Raras
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Dissomia uniparental de origem materna, cromossomo 14
ORPHA:96184CID-10 · Q99.8CID-11 · LD2YDOENÇA RARA

A dissomia uniparental materna do cromossomo 14 é uma anomalia cromossômica rara caracterizada por retardo de crescimento pré-natal e pós-natal, hipotonia, atraso motor, puberdade precoce, obesidade, baixa estatura adulta, mãos e pés pequenos, deficiência intelectual leve e características faciais dismórficas leves (protuberância frontal, nariz curto com ponta nasal larga, micrognatia, palato alto, filtro curto).

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Introdução

O que você precisa saber de cara

📋

A dissomia uniparental materna do cromossomo 14 é uma anomalia cromossômica rara caracterizada por retardo de crescimento pré-natal e pós-natal, hipotonia, atraso motor, puberdade precoce, obesidade, baixa estatura adulta, mãos e pés pequenos, deficiência intelectual leve e características faciais dismórficas leves (protuberância frontal, nariz curto com ponta nasal larga, micrognatia, palato alto, filtro curto).

Publicações científicas
33 artigos
Último publicado: 2024 Dec 12

Escala de raridade

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
<1 / 1 000 000
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
0.0
Worldwide
Casos conhecidos
64
pacientes catalogados
Início
Antenatal
+ neonatal
🏥
SUS: Cobertura mínimaScore: 35%
Centros em: SP, PR, SC, RS, ES +10CID-10: Q99.8
🇧🇷Dados SUS / DATASUS
PROCEDIMENTOS SIGTAP (5)
0202010503
Cariótipo — bandas G, Q ou Rgenetic_test
0202010600
Pesquisa de microdeleções/microduplicações por FISHlab_test
0202010694
Sequenciamento completo do exoma (WES)rehabilitation
0202010260
Dosagem de alfa-fetoproteína
0301070040
Atendimento em reabilitação — doenças raras
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Entender a doença

Do básico ao detalhe, leia no seu ritmo

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Sinais e sintomas

O que aparece no corpo e com que frequência cada sintoma acontece

Partes do corpo afetadas

📏
Crescimento
7 sintomas
😀
Face
7 sintomas
🦴
Ossos e articulações
4 sintomas
🧠
Neurológico
2 sintomas

+ 15 sintomas em outras categorias

Características mais comuns

90%prev.
Mão pequena
Muito frequente (99-80%)
90%prev.
Hipotonia
Muito frequente (99-80%)
90%prev.
Puberdade precoce
Muito frequente (99-80%)
90%prev.
Pé curto
Muito frequente (99-80%)
90%prev.
Retardo do crescimento pós-natal
Muito frequente (99-80%)
90%prev.
Atraso motor
Muito frequente (99-80%)
35sintomas
Muito frequente (6)
Frequente (9)
Ocasional (20)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 35 características clínicas mais associadas, ordenadas por frequência.

Mão pequenaSmall hand
Muito frequente (99-80%)90%
HipotoniaHypotonia
Muito frequente (99-80%)90%
Puberdade precocePrecocious puberty
Muito frequente (99-80%)90%
Pé curtoShort foot
Muito frequente (99-80%)90%
Retardo do crescimento pós-natalPostnatal growth retardation
Muito frequente (99-80%)90%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2025
Total histórico33PubMed
Últimos 10 anos80publicações
Pico202512 papers
Linha do tempo
2025Hoje · 2026
Publicações por ano (últimos 10 anos)

Encontrou um erro ou informação desatualizada? Sugira uma correção →

Genética e causas

O que está alterado no DNA e como passa nas famílias

Genes associados

3 genes identificados com associação a esta condição.

DLK1Protein delta homolog 1Role in the phenotype ofAltamente restrito
FUNÇÃO

May have a role in neuroendocrine differentiation

LOCALIZAÇÃO

MembraneCytoplasm

VIAS BIOLÓGICAS (1)
Activated NOTCH1 Transmits Signal to the Nucleus
EXPRESSÃO TECIDUAL(Tecido-específico)
Glândula adrenal
604.0 TPM
Pituitária
516.2 TPM
Ovário
147.9 TPM
Testículo
23.3 TPM
Hipotálamo
20.7 TPM
OUTRAS DOENÇAS (8)
genetic central precocious puberty in femalegenetic central precocious puberty in malepaternal uniparental disomy of chromosome 14paternal 14q32.2 microdeletion syndrome
HGNC:2907UniProt:P80370
MEG3Role in the phenotype ofDesconhecido
LOCALIZAÇÃO

VIAS BIOLÓGICAS (2)
Respiratory syncytial virus (RSV) attachment and entryRSV-host interactions
OUTRAS DOENÇAS (6)
paternal uniparental disomy of chromosome 14maternal 14q32.2 hypermethylation syndromepaternal 14q32.2 microdeletion syndromepaternal 14q32.2 hypomethylation syndrome
HGNC:14575
RTL1Retrotransposon-like protein 1Role in the phenotype ofDesconhecido
FUNÇÃO

Plays an essential role in capillaries endothelial cells for the maintenance of feto-maternal interface and for development of the placenta

LOCALIZAÇÃO

Membrane

EXPRESSÃO TECIDUAL(Baixa expressão)
Hipotálamo
3.2 TPM
Ovário
1.2 TPM
Pituitária
0.5 TPM
Substância negra
0.5 TPM
Cérebro - Hemisfério cerebelar
0.4 TPM
INTERAÇÕES PROTEICAS (2)
OUTRAS DOENÇAS (6)
maternal 14q32.2 hypermethylation syndromepaternal 14q32.2 hypomethylation syndromematernal 14q32.2 microdeletion syndromematernal uniparental disomy of chromosome 14
HGNC:14665UniProt:A6NKG5

Variantes genéticas (ClinVar)

129 variantes patogênicas registradas no ClinVar.

🧬 RTL1: GRCh37/hg19 14q32.2-32.33(chr14:97521552-107285437)x3 ()
🧬 RTL1: GRCh37/hg19 14q32.2-32.33(chr14:101180490-106329074)x1 ()
🧬 RTL1: GRCh37/hg19 14q32.2-32.31(chr14:100419086-101506214)x1 ()
🧬 RTL1: GRCh37/hg19 14q32.2-32.31(chr14:101319804-101477345)x1 ()
🧬 RTL1: GRCh37/hg19 14q32.2-32.33(chr14:101024609-107285437)x1 ()
Ver todas no ClinVar

Vias biológicas (Reactome)

2 vias biológicas associadas aos genes desta condição.

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

Carregando...

Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Pipeline de tratamentos
Pipeline regulatório — de medicamentos já aprovados a drogas em pesquisa exploratória.
·Pré-clínico2
Medicamentos catalogadosEnsaios clínicos· 0 medicamentos · 2 ensaios
Carregando informações de tratamento...

Onde tratar no SUS

Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)

🇧🇷 Atendimento SUS — Dissomia uniparental de origem materna, cromossomo 14

Centros de Referência SUS

24 centros habilitados pelo SUS para Dissomia uniparental de origem materna, cromossomo 14

Centros para Dissomia uniparental de origem materna, cromossomo 14

Detalhes dos centros

Hospital Universitário Prof. Edgard Santos (HUPES)

R. Dr. Augusto Viana, s/n - Canela, Salvador - BA, 40110-060 · CNES 0003808

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo

Hospital Infantil Albert Sabin

R. Tertuliano Sales, 544 - Vila União, Fortaleza - CE, 60410-794 · CNES 2407876

Serviço de Referência

Rota
Anomalias CongênitasDeficiência Intelectual

Hospital de Apoio de Brasília (HAB)

AENW 3 Lote A Setor Noroeste - Plano Piloto, Brasília - DF, 70684-831 · CNES 0010456

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Estadual Infantil e Maternidade Alzir Bernardino Alves (HIABA)

Av. Min. Salgado Filho, 918 - Soteco, Vila Velha - ES, 29106-010 · CNES 6631207

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital das Clínicas da UFG

Rua 235 QD. 68 Lote Área, Nº 285, s/nº - Setor Leste Universitário, Goiânia - GO, 74605-050 · CNES 2338424

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo

Hospital Universitário da UFJF

R. Catulo Breviglieri, Bairro - s/n - Santa Catarina, Juiz de Fora - MG, 36036-110 · CNES 2297442

Atenção Especializada

Rota
Anomalias Congênitas

Hospital das Clínicas da UFMG

Av. Prof. Alfredo Balena, 110 - Santa Efigênia, Belo Horizonte - MG, 30130-100 · CNES 2280167

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Universitário Julio Müller (HUJM)

R. Luis Philippe Pereira Leite, s/n - Alvorada, Cuiabá - MT, 78048-902 · CNES 2726092

Atenção Especializada

Rota
Anomalias Congênitas

Hospital Universitário João de Barros Barreto

R. dos Mundurucus, 4487 - Guamá, Belém - PA, 66073-000 · CNES 2337878

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Universitário Lauro Wanderley (HULW)

R. Tabeliao Estanislau Eloy, 585 - Castelo Branco, João Pessoa - PB, 58050-585 · CNES 0002470

Atenção Especializada

Rota
Anomalias Congênitas

Instituto de Medicina Integral Prof. Fernando Figueira (IMIP)

R. dos Coelhos, 300 - Boa Vista, Recife - PE, 50070-902 · CNES 0000647

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Pequeno Príncipe

R. Des. Motta, 1070 - Água Verde, Curitiba - PR, 80250-060 · CNES 3143805

Serviço de Referência

Rota
Anomalias CongênitasDeficiência Intelectual

Hospital Universitário Regional de Maringá (HUM)

Av. Mandacaru, 1590 - Parque das Laranjeiras, Maringá - PR, 87083-240 · CNES 2216108

Atenção Especializada

Rota
Anomalias Congênitas

Hospital de Clínicas da UFPR

R. Gen. Carneiro, 181 - Alto da Glória, Curitiba - PR, 80060-900 · CNES 2364980

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Universitário Pedro Ernesto (HUPE-UERJ)

Blvd. 28 de Setembro, 77 - Vila Isabel, Rio de Janeiro - RJ, 20551-030 · CNES 2280221

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo

Instituto Nacional de Saúde da Mulher, da Criança e do Adolescente Fernandes Figueira (IFF/Fiocruz)

Av. Rui Barbosa, 716 - Flamengo, Rio de Janeiro - RJ, 22250-020 · CNES 2269988

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital São Lucas da PUCRS

Av. Ipiranga, 6690 - Jardim Botânico, Porto Alegre - RS, 90610-000 · CNES 2232928

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo

Hospital de Clínicas de Porto Alegre (HCPA)

Rua Ramiro Barcelos, 2350 Bloco A - Av. Protásio Alves, 211 - Bloco B e C - Santa Cecília, Porto Alegre - RS, 90035-903 · CNES 2237601

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Universitário da UFSC (HU-UFSC)

R. Profa. Maria Flora Pausewang - Trindade, Florianópolis - SC, 88036-800 · CNES 2560356

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo

Hospital das Clínicas da FMUSP

R. Dr. Ovídio Pires de Campos, 225 - Cerqueira César, São Paulo - SP, 05403-010 · CNES 2077485

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital de Base de São José do Rio Preto

Av. Brg. Faria Lima, 5544 - Vila Sao Jose, São José do Rio Preto - SP, 15090-000 · CNES 2079798

Atenção Especializada

Rota
Anomalias Congênitas

Hospital de Clínicas da UNICAMP

R. Vital Brasil, 251 - Cidade Universitária, Campinas - SP, 13083-888 · CNES 2748223

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital de Clínicas de Ribeirão Preto (HCRP-USP)

R. Ten. Catão Roxo, 3900 - Vila Monte Alegre, Ribeirão Preto - SP, 14015-010 · CNES 2082187

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

UNIFESP / Hospital São Paulo

R. Napoleão de Barros, 715 - Vila Clementino, São Paulo - SP, 04024-002 · CNES 2688689

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo
Sobre os centros SUS: Estes centros são habilitados pelo Ministério da Saúde como Serviços de Referência em Doenças Raras ou Serviços de Atenção Especializada. O atendimento é pelo SUS, com encaminhamento da rede de atenção básica.

Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.

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Publicações mais relevantes

Timeline de publicações
19 papers (10 anos)
#1

Blended phenotype of TECPR2-associated hereditary sensory-autonomic neuropathy and Temple syndrome.

Annals of clinical and translational neurology2025 Feb

Uniparental isodisomy (UPiD) can cause mixed phenotypes of imprinting disorders and autosomal-recessive diseases. We present the case of a 3-year-old male with a blended phenotype of TECPR2-related hereditary sensory and autonomic neuropathy (HSAN9) and Temple syndrome (TS14) due to maternal UPiD of chromosome 14, which includes a loss-of-function founder variant in the TECPR2 gene [NM_014844.5: c.1319del, p.Leu440Argfs*19]. This case illustrates challenges associated with a mixed phenotype of ultra-rare disorders and underscores the importance of investigating recessive conditions in homozygosity regions when atypical clinical features occur in patients with well-characterized imprinting disorders.

#2

Concomitant Upd(14)mat and Trisomy 14 Mosaicism in a Newborn Detected by Whole Genome Sequencing.

Clinical genetics2025 May

Maternal uniparental disomy of chromosome 14, upd(14)mat, leads to Temple syndrome (TS), an imprinting disorder characterized by pre- and postnatal growth retardation, hypotonia, motor delay, joint laxity, and precocious puberty. The occurrence of upd(14)mat is rare, and it may, in even rarer cases, co-occur with trisomy 14 mosaicism. To date, only 11 live-born cases have been reported in the literature. We present a newborn girl with severe hypotonia, global developmental delay, feeding difficulties, dysmorphic features, and cardiac malformations. Using trio whole genome sequencing (WGS) no causative sequence or structural variants were detected. As a chromosomal disorder was suspected the data was further analyzed with a pipeline including analysis of UPD and low-level mosaicism, which revealed upd(14)mat and low level trisomy 14 mosaicism. This study underscores the significance of advanced genetic testing techniques, thorough data interpretation, and expert clinical evaluation in diagnosing rare disorders with complex molecular mechanisms.

#3

Rare Causes and Differential Diagnosis in Patients With Silver-Russell Syndrome.

Clinical genetics2025 Apr

Silver-Russell syndrome (SRS) is an imprinting disorder mainly characterized by pre- and postnatal growth restriction. Most SRS cases are due to 11p15.5 loss of methylation (11p15.5 LOM) or maternal uniparental disomy of chromosome 7 [UPD(7)mat], but several patients remain molecularly undiagnosed. This study describes the molecular investigation of children with a clinical diagnosis or suspicion of SRS at a tertiary center specialized in growth disorders. Thirty-nine patients were evaluated with multiplex ligation-dependent probe amplification, chromosomal microarray and/or massively parallel sequencing. The most common result was 11p15.5 LOM (n = 17; 43.5%), followed by UPD(7)mat (n = 2; 5.1%). Additionally, we found maternal duplications of the imprinting centers in 11p15.5 (n = 2; 5.1%), and genetic defects in SRS-causing genes (IGF2 and HMGA2) (n = 3; 7.7%; two mutations and one deletion). Alternative molecular diagnoses included UPD(14)mat (n = 1; 2,6%), UPD(20)mat (n = 1;2,6%), copy number variants (n = 2; 5.1%), and mutations in genes associated with other growth disorders (n = 4; 10.3%), leading to diagnoses of Temple syndrome, Mulchandani-Bhoj-Conlin syndrome, IGF-1 resistance (IGF1R), Bloom syndrome (BLM), Gabriele-De Vries syndrome (YY1), Intellectual developmental disorder autosomal dominant 50 with behavioral abnormalities (NAA15), and Intellectual developmental disorder 64 (ZNF292). These findings underscore the importance of establishing the molecular diagnosis of SRS and its differential diagnoses to guide appropriate management and genetic counseling.

#4

Hypomethylation of the MEG8:Int2-DMR in patients with pathogenic PLAG1 variants suggests new role of the chr14q32 imprinting cluster in Silver-Russell syndrome.

Clinical epigenetics2025 Nov 23

Silver-Russell syndrome (SRS) is a clinically and genetically heterogeneous imprinting disorder. The most common molecular defects are loss of methylation of the H19/IGF2:IG-DMR on chromosome 11p15.5, followed by maternal uniparental disomy of chromosome 7. Further molecular lesions are genetic variants in the PLAG1 oncogene, as well as in the transcription factor HMGA2 and the fetal growth factor IGF2. A phenotypic overlap exists between SRS and Temple syndrome (TS14) that is also characterized by growth restriction but associated with abnormalities in the imprinted chromosome 14q32 gene cluster. In TS14 patients, the germline MEG3/DLK1: IG-DMR is hypomethylated and the MEG8:Int2-DMR gains methylation probably as consequence of transcriptional readthrough from the MEG3 promoter on the paternal chromosome. However, the functional role of the MEG8 DMR remains unknown. We analysed the DNA methylation of 11-12 imprinted regions in 17 cases with clinical SRS features and heterozygous for a PLAG1 variant. We observed a specific loss of methylation of the MEG8:Int2-DMR in the ten cases carrying pathogenic PLAG1 variants that result in stable aberrant proteins. Normal MEG8 methylation was observed in the cases carrying variants of uncertain pathogenicity or gene deletions. Most of the PLAG1 cases are familial and both epigenetic and genetic defects co-segregated within the families. Additionally, we assessed the methylation status of the MEG8:Int2-DMR in several SRS patients with HMGA2 or IGF2 variants, H19/IGF2:IG-DMR-LoM and upd(7)mat and all of them showed normal methylation. Our results indicate that pathogenic PLAG1 variants leading to stable aberrant PLAG1 proteins and possibly acting in a dominant-negative manner influence methylation of the MEG8 locus. This study suggests a new pathogenetic mechanism of the PLAG1 gene in SRS, involving imprinted genes in the chr14q32 cluster through deregulation of the MEG8:Int2-DMR and provides an epigenetic signature that may be used to assess the damaging potential of the PLAG1 variants.

#5

Prenatal diagnosis and outcome of meso/dextrocardia: a single-center report of 29 cases.

Journal of medical ultrasonics (2001)2025 Oct 25

While meso/dextrocardia, a cardiac axis abnormality, is associated with various complications and a poor prognosis, few studies have been reported. We aimed to identify and review patients at our hospital who had been diagnosed with fetal meso/dextrocardia. The medical records of 29 patients diagnosed with fetal meso/dextrocardia between April 1, 2014 and March 31, 2024 were reviewed. We identified eight cases of mesocardia and 21 cases of dextrocardia (17 dextropositions and four dextroversions). Right lung hypoplasia (including 3q trisomy, esophageal bronchopleural fistula, and left pulmonary artery sling) was identified in three cases. Five cases of persistent left superior vena cava (PLSVC) were identified [isolated PLSVC (n = 2), VACTERL association (n = 1), trisomy 13 (n = 2)]. Dextroposition was linked to congenital pulmonary airway malformation (eight cases), left pulmonary sequestration (one case), congenital diaphragmatic hernia (six cases), right lung hypoplasia (one case), and VACTERL association with right lung aplasia and esophageal atresia (one case). Dextroversion was associated with asplenia syndrome (two cases), single-ventricle (one case), and Temple syndrome with PLSVC and bilateral hypoplastic pulmonary arteries (one case). Among 29 newborns, six (20.7%) died during the early neonatal period and seven (24.1%) required postnatal multidisciplinary treatment, highlighting a poor prognosis in many cases. While some patients, such as those with isolated PLSVC, had favorable outcomes, several cases involved severe complications requiring intensive perinatal management. When fetal meso/dextrocardia is detected, it is critical to evaluate fetal anomalies comprehensively and not limit assessment to the heart and lungs.

Publicações recentes

Ver todas no PubMed

📚 EuropePMCmostrando 79

2025

Hypomethylation of the MEG8:Int2-DMR in patients with pathogenic PLAG1 variants suggests new role of the chr14q32 imprinting cluster in Silver-Russell syndrome.

Clinical epigenetics
2025

Prenatal diagnosis and outcome of meso/dextrocardia: a single-center report of 29 cases.

Journal of medical ultrasonics (2001)
2025

Using long-read sequencing to detect and subtype a case with Temple syndrome.

Journal of medical genetics
2025

Dual genetic diagnosis of Mitchell-Riley syndrome and Temple syndrome in a neonate.

Clinical dysmorphology
2025

Prenatal diagnosis of imprinted associated chromosome abnormalities identified by noninvasive prenatal testing (NIPT).

Scientific reports
2025

Blended phenotype of TECPR2-associated hereditary sensory-autonomic neuropathy and Temple syndrome.

Annals of clinical and translational neurology
2025

Temple Syndrome: Comprehensive Clinical Study in Genetically Confirmed 60 Japanese Patients.

The Journal of clinical endocrinology and metabolism
2025

Concomitant Upd(14)mat and Trisomy 14 Mosaicism in a Newborn Detected by Whole Genome Sequencing.

Clinical genetics
2025

Rare Causes and Differential Diagnosis in Patients With Silver-Russell Syndrome.

Clinical genetics
2024

A long way to syndromic short stature.

Italian journal of pediatrics
2025

Comprehensive Study on Central Precocious Puberty: Molecular and Clinical Analyses in 90 Patients.

The Journal of clinical endocrinology and metabolism
2024

Prenatal diagnosis of recurrent Kagami-Ogata syndrome inherited from a mother affected by Temple syndrome: a case report and literature review.

BMC medical genomics
2024

The genetic etiology is a relevant cause of central precocious puberty.

European journal of endocrinology
2025

A Male Japanese Patient with Temple Syndrome Complicated by Type 2 Diabetes Mellitus.

Internal medicine (Tokyo, Japan)
2024

Novel 14q32.2 paternal deletion encompassing the whole DLK1 gene associated with Temple syndrome.

Clinical epigenetics
2023

Imprinted small nucleolar RNAs: Missing link in development and disease?

Wiley interdisciplinary reviews. RNA
2023

Genetic Obesity Disorders: Body Mass Index Trajectories and Age of Onset of Obesity Compared with Children with Obesity from the General Population.

The Journal of pediatrics
2023

Maternally inherited deletion encompassing the RTL1as and MEG8 genes of the human 14q32 imprinted region in a patient with a mild Kagami-Ogata syndrome phenotype.

American journal of medical genetics. Part A
2023

The Effects of 5 Years of Growth Hormone Treatment on Growth and Body Composition in Patients with Temple Syndrome.

Hormone research in paediatrics
2024

Long-term Follow-up of a Late Diagnosed Patient with Temple Syndrome.

Journal of clinical research in pediatric endocrinology
2022

Maintenance of methylation profile in imprinting control regions in human induced pluripotent stem cells.

Clinical epigenetics
2023

Multisuture craniosynostosis: a case report of unusual presentation of chromosome 14q32 deletion.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2022

Temple Syndrome: Clinical Findings, Body Composition and Cognition in 15 Patients.

Journal of clinical medicine
2022

Case report: Prenatal diagnosis of Kagami-Ogata syndrome in a Chinese family.

Frontiers in genetics
2022

Resting Energy Expenditure and Body Composition in Children and Adolescents With Genetic, Hypothalamic, Medication-Induced or Multifactorial Severe Obesity.

Frontiers in endocrinology
2022

First prenatal case of Kagami-Ogata syndrome associated with a small supernumerary marker chromosome derived from chromosome 15.

Taiwanese journal of obstetrics &amp; gynecology
2022

A patient with multilocus imprinting disturbance involving hypomethylation at 11p15 and 14q32, and phenotypic features of Beckwith-Wiedemann and Temple syndromes.

American journal of medical genetics. Part A
2022

The Spectrum of the Prader-Willi-like Pheno- and Genotype: A Review of the Literature.

Endocrine reviews
2022

Whole-genome analysis as a diagnostic tool for patients referred for diagnosis of Silver-Russell syndrome: a real-world study.

Journal of medical genetics
2021

ZNF445: a homozygous truncating variant in a patient with Temple syndrome and multilocus imprinting disturbance.

Clinical epigenetics
2021

Growth Restriction and Genomic Imprinting-Overlapping Phenotypes Support the Concept of an Imprinting Network.

Genes
2021

UPD(14)mat and UPD(14)mat in concomitance with mosaic small supernumerary marker chromosome 14 in two new patients with Temple syndrome.

European journal of medical genetics
2021

Temple syndrome resulting from uniparental disomy is undiagnosed by a methylation assay due to low-level mosaicism for trisomy 14.

American journal of medical genetics. Part A
2022

Preimplantation genetic testing for a chr14q32 microdeletion in a family with Kagami-Ogata syndrome and Temple syndrome.

Journal of medical genetics
2021

Insights from the genetic characterization of central precocious puberty associated with multiple anomalies.

Human reproduction (Oxford, England)
2020

Genome-wide methylation analysis in Silver-Russell syndrome, Temple syndrome, and Prader-Willi syndrome.

Clinical epigenetics
2020

Molecular characterization of temple syndrome families with 14q32 epimutations.

European journal of medical genetics
2020

Deficiency and overexpression of Rtl1 in the mouse cause distinct muscle abnormalities related to Temple and Kagami-Ogata syndromes.

Development (Cambridge, England)
2020

Screening for imprinting disorders in 58 patients with clinically diagnosed idiopathic short stature.

Journal of pediatric endocrinology &amp; metabolism : JPEM
2020

Temple syndrome and Kagami-Ogata syndrome: clinical presentations, genotypes, models and mechanisms.

Human molecular genetics
2019

DLK1, Notch Signaling and the Timing of Puberty.

Seminars in reproductive medicine
2020

Occurrence and characterization of medulloblastoma in a patient with Curry-Jones syndrome.

Clinical genetics
2019

Lysinuric protein intolerance with homozygous SLC7A7 mutation caused by maternal uniparental isodisomy of chromosome 14.

Journal of human genetics
2019

A retrospective analysis of the prevalence of imprinting disorders in Estonia from 1998 to 2016.

European journal of human genetics : EJHG
2019

Maternal uniparental disomy of the chromosome 14: need for growth hormone provocative tests also when a deficiency is not suspected.

BMJ case reports
2019

Interchromosomal template-switching as a novel molecular mechanism for imprinting perturbations associated with Temple syndrome.

Genome medicine
2019

Temple syndrome in a patient with variably methylated CpGs at the primary MEG3/DLK1:IG-DMR and severely hypomethylated CpGs at the secondary MEG3:TSS-DMR.

Clinical epigenetics
2018

Growth Hormone Improves Short-Term Growth in Patients with Temple Syndrome.

Hormone research in paediatrics
2019

Transcriptional profiling at the DLK1/MEG3 domain explains clinical overlap between imprinting disorders.

Science advances
2019

Temple syndrome diagnosed in an adult patient with clinical autism spectrum disorder.

Clinical case reports
2018

The origin of imprinting defects in Temple syndrome and comparison with other imprinting disorders.

Epigenetics
2018

A New Case of a Rare Combination of Temple Syndrome and Mosaic Trisomy 14 and a Literature Review.

Molecular syndromology
2018

Chromosome 14q32.2 Imprinted Region Disruption as an Alternative Molecular Diagnosis of Silver-Russell Syndrome.

The Journal of clinical endocrinology and metabolism
2018

Molecular and clinical studies in 8 patients with Temple syndrome.

Clinical genetics
2018

A Postzygotic SMO Mutation Caused the Original Case of Happle-Tinschert Syndrome.

Acta dermato-venereologica
2018

Temple syndrome as a differential diagnosis to Prader-Willi syndrome: Identifying three new patients.

American journal of medical genetics. Part A
2017

Overexpression of microRNAs from the Gtl2-Rian locus contributes to postnatal death in mice.

Human molecular genetics
2017

DLK1-DIO3 imprinted locus deregulation in development, respiratory disease, and cancer.

Expert review of respiratory medicine
2017

Temple syndrome: comprehensive molecular and clinical findings in 32 Japanese patients.

Genetics in medicine : official journal of the American College of Medical Genetics
2017

New insights into the imprinted MEG8-DMR in 14q32 and clinical and molecular description of novel patients with Temple syndrome.

European journal of human genetics : EJHG
2017

Maternal Uniparental Disomy 14 (Temple Syndrome) as a Result of a Robertsonian Translocation.

Molecular syndromology
2017

Gastrointestinal disorders in Curry-Jones syndrome: Clinical and molecular insights from an affected newborn.

American journal of medical genetics. Part A
2017

Paternally Inherited DLK1 Deletion Associated With Familial Central Precocious Puberty.

The Journal of clinical endocrinology and metabolism
2016

Happle-Tinschert syndrome can be caused by a mosaic SMO mutation and is suggested to be a variant of Curry-Jones syndrome: reply from the authors.

The British journal of dermatology
2016

Happle-Tinschert syndrome can be caused by a mosaic SMO mutation and is suggested to be a variant of Curry-Jones syndrome.

The British journal of dermatology
2017

Genome-wide multilocus imprinting disturbance analysis in Temple syndrome and Kagami-Ogata syndrome.

Genetics in medicine : official journal of the American College of Medical Genetics
2017

A rare cause of temple syndrome.

Clinical dysmorphology
2016

A patient with Temple syndrome satisfying the clinical diagnostic criteria of Silver-Russell syndrome.

American journal of medical genetics. Part A
2016

Phenotypic spectrum and extent of DNA methylation defects associated with multilocus imprinting disturbances.

Epigenomics
2016

A Recurrent Mosaic Mutation in SMO, Encoding the Hedgehog Signal Transducer Smoothened, Is the Major Cause of Curry-Jones Syndrome.

American journal of human genetics
2017

NSD1 duplication in Silver-Russell syndrome (SRS): molecular karyotyping in patients with SRS features.

Clinical genetics
2016

Examinations of maternal uniparental disomy and epimutations for chromosomes 6, 14, 16 and 20 in Silver-Russell syndrome-like phenotypes.

BMC medical genetics
2016

Temple syndrome: A patient with maternal hetero-UPD14, mixed iso- and hetero-disomy detected by SNP microarray typing of patient-father duos.

Brain &amp; development
2016

Temple syndrome misdiagnosed as Silver-Russell syndrome.

Clinical dysmorphology
2015

The differentially methylated region of MEG8 is hypermethylated in patients with Temple syndrome.

Epigenomics
2016

Temple syndrome as a result of isolated hypomethylation of the 14q32 imprinted DLK1/MEG3 region.

American journal of medical genetics. Part A
2016

New patients with Temple syndrome caused by 14q32 deletion: Genotype-phenotype correlations and risk of thyroid cancer.

American journal of medical genetics. Part A
2015

Array-based DNA methylation analysis in individuals with developmental delay/intellectual disability and normal molecular karyotype.

European journal of medical genetics
2015

Clinical features associated with copy number variations of the 14q32 imprinted gene cluster.

American journal of medical genetics. Part A

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Doenças relacionadas

Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico

Ordenadas pelo número de sintomas em comum.

Referências e fontes

Bases de dados externas citadas neste artigo

Publicações científicas

Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.

  1. Blended phenotype of TECPR2-associated hereditary sensory-autonomic neuropathy and Temple syndrome.
    Annals of clinical and translational neurology· 2025· PMID 39807687mais citado
  2. Concomitant Upd(14)mat and Trisomy 14 Mosaicism in a Newborn Detected by Whole Genome Sequencing.
    Clinical genetics· 2025· PMID 39667803mais citado
  3. Rare Causes and Differential Diagnosis in Patients With Silver-Russell Syndrome.
    Clinical genetics· 2025· PMID 39586716mais citado
  4. Hypomethylation of the MEG8:Int2-DMR in patients with pathogenic PLAG1 variants suggests new role of the chr14q32 imprinting cluster in Silver-Russell syndrome.
    Clinical epigenetics· 2025· PMID 41276848mais citado
  5. Prenatal diagnosis and outcome of meso/dextrocardia: a single-center report of 29 cases.
    Journal of medical ultrasonics (2001)· 2025· PMID 41137976mais citado
  6. Retinal Dystrophy Associated with Homozygous Variants in NRL.
    Genes (Basel)· 2024· PMID 39766861recente
  7. A Male Japanese Patient with Temple Syndrome Complicated by Type 2 Diabetes Mellitus.
    Intern Med· 2025· PMID 38749734recente
  8. The Effects of 5 Years of Growth Hormone Treatment on Growth and Body Composition in Patients with Temple Syndrome.
    Horm Res Paediatr· 2023· PMID 36977395recente
  9. Temple Syndrome: Clinical Findings, Body Composition and Cognition in 15 Patients.
    J Clin Med· 2022· PMID 36362517recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:96184(Orphanet)
  2. MONDO:0019915(MONDO)
  3. GARD:16848(GARD (NIH))
  4. Variantes catalogadas(ClinVar)
  5. Busca completa no PubMed(PubMed)
  6. Q16557389(Wikidata)

Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.

Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar

Dissomia uniparental de origem materna, cromossomo 14
Compêndio · Raras BR

Dissomia uniparental de origem materna, cromossomo 14

ORPHA:96184 · MONDO:0019915
Prevalência
<1 / 1 000 000
Casos
64 casos conhecidos
CID-10
Q99.8 · Outras anomalias cromossômicas especificadas
CID-11
Início
Antenatal, Neonatal
Prevalência
0.0 (Worldwide)
MedGen
UMLS
C0795850
Wikidata
Papers 10a
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