A Deficiência Familiar de Glicocorticoide (DFG) é um grupo de problemas primários nas glândulas suprarrenais. Ela se manifesta em recém-nascidos com pele escura, baixo nível de açúcar no sangue, dificuldade para crescer e ganhar peso, e infecções que surgem com frequência. Nos exames de laboratório, a DFG é identificada pela falta de glicocorticoide, mas sem que haja falta de mineralocorticoide.
Introdução
O que você precisa saber de cara
A Deficiência Familiar de Glicocorticoide (DFG) é um grupo de problemas primários nas glândulas suprarrenais. Ela se manifesta em recém-nascidos com pele escura, baixo nível de açúcar no sangue, dificuldade para crescer e ganhar peso, e infecções que surgem com frequência. Nos exames de laboratório, a DFG é identificada pela falta de glicocorticoide, mas sem que haja falta de mineralocorticoide.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 19 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 59 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
5 genes identificados com associação a esta condição. Padrão de herança: Autosomal recessive.
Guanylyl cyclase that catalyzes synthesis of cyclic GMP (cGMP) from GTP (PubMed:11950846, PubMed:1718270, PubMed:22436048, PubMed:22521417, PubMed:23269669). Receptor for the E.coli heat-stable enterotoxin; E.coli enterotoxin markedly stimulates the accumulation of cGMP in mammalian cells expressing GUCY2C (PubMed:1680854, PubMed:1718270). Also activated by the endogenous peptides guanylin and uroguanylin (PubMed:8381596)
Cell membraneEndoplasmic reticulum membrane
Diarrhea 6
A relatively mild, early-onset chronic diarrhea that may be associated with increased susceptibility to inflammatory bowel disease, small bowel obstruction, and esophagitis.
Involved in the control of reactive oxygen species levels and the regulation of mitochondrial redox homeostasis (PubMed:24601690). Maintains thioredoxin in a reduced state. May play a role in redox-regulated cell signaling
Mitochondrion
Glucocorticoid deficiency 5
A form of glucocorticoid deficiency, a rare autosomal recessive disorder characterized by resistance to ACTH action on the adrenal cortex, adrenal insufficiency and an inability of the adrenal cortex to produce cortisol. It usually presents in the neonatal period or in early childhood with episodes of hypoglycemia and other symptoms related to cortisol deficiency, including failure to thrive, recurrent illnesses or infections, convulsions, and shock. In a small number of patients hypoglycemia can be sufficiently severe and persistent that it leads to serious long-term neurological damage or death. The diagnosis is readily confirmed with a low plasma cortisol measurement in the presence of an elevated ACTH level, and normal aldosterone and plasma renin measurements.
The transhydrogenation between NADH and NADP is coupled to respiration and ATP hydrolysis and functions as a proton pump across the membrane (By similarity). May play a role in reactive oxygen species (ROS) detoxification in the adrenal gland (PubMed:22634753)
Mitochondrion inner membrane
Glucocorticoid deficiency 4 with or without mineralocorticoid deficiency
A form of glucocorticoid deficiency, a rare autosomal recessive disorder characterized by resistance to ACTH action on the adrenal cortex, adrenal insufficiency and an inability of the adrenal cortex to produce cortisol. It usually presents in the neonatal period or in early childhood with episodes of hypoglycemia and other symptoms related to cortisol deficiency, including failure to thrive, recurrent illnesses or infections, convulsions, and shock. In a small number of patients hypoglycemia can be sufficiently severe and persistent that it leads to serious long-term neurological damage or death. The diagnosis is readily confirmed with a low plasma cortisol measurement in the presence of an elevated ACTH level, and normal aldosterone and plasma renin measurements.
G protein-coupled receptor for corticotropin/ACTH, primarily expressed in adrenal cortex where it plays a key role in the regulation of adrenocortical function (PubMed:1325670, PubMed:17596328, PubMed:36588120). Upon activation, couples to G(s) protein, stimulating adenylate cyclase and activating the cAMP-dependent signaling pathway, the MAPK cascade as well as the PKA pathway, leading to steroidogenic factor 1/NR5A1-mediated transcriptional activation (PubMed:1325670). Activation by ACTH facil
Cell membrane
Glucocorticoid deficiency 1
A form of glucocorticoid deficiency, a rare autosomal recessive disorder characterized by resistance to ACTH action on the adrenal cortex, adrenal insufficiency and an inability of the adrenal cortex to produce cortisol. It usually presents in the neonatal period or in early childhood with episodes of hypoglycemia and other symptoms related to cortisol deficiency, including failure to thrive, recurrent illnesses or infections, convulsions, and shock. In a small number of patients hypoglycemia can be sufficiently severe and persistent that it leads to serious long-term neurological damage or death. The diagnosis is readily confirmed with a low plasma cortisol measurement in the presence of an elevated ACTH level, and normal aldosterone and plasma renin measurements.
Modulator of melanocortin receptors (MC1R, MC2R, MC3R, MC4R and MC5R). Acts by increasing ligand-sensitivity of melanocortin receptors and enhancing generation of cAMP by the receptors. Required both for MC2R trafficking to the cell surface of adrenal cells and for signaling in response to corticotropin (ACTH). May be involved in the intracellular trafficking pathways in adipocyte cells
Cell membraneEndoplasmic reticulum membrane
Glucocorticoid deficiency 2
A form of glucocorticoid deficiency, a rare autosomal recessive disorder characterized by resistance to ACTH action on the adrenal cortex, adrenal insufficiency and an inability of the adrenal cortex to produce cortisol. It usually presents in the neonatal period or in early childhood with episodes of hypoglycemia and other symptoms related to cortisol deficiency, including failure to thrive, recurrent illnesses or infections, convulsions, and shock. In a small number of patients hypoglycemia can be sufficiently severe and persistent that it leads to serious long-term neurological damage or death. The diagnosis is readily confirmed with a low plasma cortisol measurement in the presence of an elevated ACTH level, and normal aldosterone and plasma renin measurements.
Variantes genéticas (ClinVar)
705 variantes patogênicas registradas no ClinVar.
Vias biológicas (Reactome)
7 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Deficiência de glicocorticoides familiar
Selecione um estado ou use sua localização para ver resultados.
Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Pesquisa e ensaios clínicos
Nenhum ensaio clínico registrado para esta condição.
Publicações mais relevantes
A rare case report of familial glucocorticoid deficiency type 4 (GCCD4) with dilated cardiomyopathy: a 3-year follow-up study.
Familial glucocorticoid deficiency type 4 (GCCD4), caused by nicotinamide nucleotide transhydrogenase (NNT) gene mutations, represents a rare multisystem disorder with poorly characterized cardiac manifestations. A 12-year-old female presented with recurrent fatigue, syncope, and severe arrhythmias. After multiple misdiagnoses [including dilated cardiomyopathy, fulminant myocarditis, and long QT syndrome (LQTS)], comprehensive evaluation revealed hypocortisolism (<1.0 µg/dL), markedly elevated adrenocorticotropic hormone (ACTH) (>1,250 pg/mL), and hypothyroidism. Genetic testing identified compound heterozygous NNT mutations (c.639_640insC/p.Val214Argfs*32 and c.2764C>T/p.Arg922*). Comprehensive whole-exome sequencing (WES) ruled out pathogenic variants in genes associated with isolated cardiomyopathy or congenital hypothyroidism. Cardiac assessment showed left ventricular dilation [left ventricular end-diastolic diameter (LVEDD) 5.14 cm], reduced left ventricular ejection fraction (LVEF) 53%, and corrected QT interval (QTc) prolongation (559 ms) with torsades de pointes. The patient was managed with hormone replacement (hydrocortisone 8.8→16.1 mg/m2/day; levothyroxine 16.7 µg/day) and cardioprotective therapy (propranolol, captopril, coenzyme Q10), resulting in significant improvement at 3-year follow-up: ejection fraction (EF) normalized to 68%, thyroid function recovered permitting levothyroxine discontinuation, hyperpigmentation resolved completely, and no arrhythmias recurred. This case underscores GCCD4 as a differential diagnosis in pediatric cardiomyopathy with arrhythmias. Multidisciplinary collaboration and early genetic testing are critical for diagnosis. Individualized glucocorticoid dosing combined with cardiac support enables favorable outcomes.
Identification of novel and recurrent mutations in nicotinamide nucleotide transhydrogenase (NNT) underlying familial glucocorticoid deficiency-type 4 in multiple Saudi families.
Familial glucocorticoid deficiency (FGD; MIM: 614736) is a genetic disease of glucocorticoid insufficiency, with autosomal recessive mode of inheritance. The FGD is genetically heterogeneous disorder that involves multiple genes related to the pathway that regulates the signaling from pituitary to the adrenal cortex, or the specific redox reactions in mitochondria. The phenotypic spectrum for FGD is also diverse with considerable variability in clinical features. Among the genetic determinants of this disease, pathogenic mutations in NNT gene results in Familial glucocorticoid deficiency type 4. Here we report three consanguineous families with single nucleotide variants in NNT that manifest as familial glucocorticoid deficiency in multiple family members. Prospective cohort of three families from different tribes were identified with clinical diagnosis of familial glucocorticoid deficiency (FGD). Whole exome sequencing (WES) done for affected family members followed by validation of discovered variant by Sanger sequencing and subsequent functional studies including quantitative PCR analysis and protein Modelling. The screening of entire coding region of the genomes of probands in each family revealed three distinct mutations, including one novel missense variant (c.1067 C > T; p.Thr356Ile), classified as variant of uncertain significance (VUS; Class-3) and two recurrent variants (c.1025 T > C; p.Val342Ala and c.98dup; p.Leu33Phefs*13), classified as pathogenic [Class-I]. Computational protein modelling of these mutations (c.98dup and c.1025 T > C) suggests atypical changes in the structure of the mutant proteins that likely disrupt the physiological role of NNT in mitochondria of adrenal cortex. The exome sequencing genetically characterized the autosomal recessive sub-type 4 of hereditary glucocorticoid deficiency in families showing the features of cortisol deficiency, including the development of hypoglycemia and adrenal crisis. This strongly supports the pathogenicity of these variants. In addition, this suggests importance of mitochondrial function in post developmental maintenance of cortisol significance in terms of cellular metabolism, carried out by NNT protein. Identifying individuals with hereditary glucocorticoid deficiency is essential to start life-saving glucocorticoid replacement.
Unmasking Isolated Glucocorticoid Deficiency: Clinical Insights From 2 Cases.
Familial glucocorticoid deficiency (FGD) is a rare autosomal recessive disorder characterized by unresponsiveness to adrenocorticotropin (ACTH) with preserved mineralocorticoid secretion. We describe 2 patients who presented with FGD. The first patient was born to a third-degree consanguineous marriage, and suffered from global developmental delay and recurrent seizures since childhood. He presented to us at age 22 years with severe hyponatremia. Laboratory investigations showed subclinical hypothyroidism, low cortisol, high ACTH, and normal plasma renin activity. After exclusion of common causes of primary adrenal insufficiency (PAI), we undertook whole-exome sequencing (WES) that revealed 2 variants-a hemizygous deletion involving exons 10 to 21 of the AFF2 gene known to cause X-linked intellectual developmental disorder-109 and a biallelic variant in the melanocortin 2 receptor gene (NM_000529.2: c.437G > A; p.Arg146His). The second patient presented at age 25 years with severe hyponatremia and seizures. Investigations revealed isolated glucocorticoid deficiency, and WES yielded compound heterozygous variants in the CYP11A1 gene (c.940G > A; p.Glu314Lys and c.359G > A; p.Arg120Gln). Both patients were put on glucocorticoid replacement and are doing well on follow-up. FGD should be suspected in young individuals with PAI and can be caused by a spectrum of genetic abnormalities.
Case report and literature review: novel TXNRD2 compound heterozygous variants in familial glucocorticoid deficiency type 5.
Familial glucocorticoid deficiency (FGD) is a rare autosomal recessive disorder characterized by isolated glucocorticoid deficiency. Mutations of MC2R, MRAP, STAR, NNT, and TXNRD2 have been implicated in FGD pathogenesis. To date, only four families with TXNRD2-associated familial Glucocorticoid Deficiency Type 5 (FGD5) have been reported worldwide. We report a patient with clinical features consistent with FGD5, increasing the total number of reported cases. Including this case, 11 probands across five independent kindreds have now been identified globally. Functional studies demonstrated that the novel compound heterozygous variants (c.1391A > G; p.H464R and c.1141C > T; p.R381W) reduce TXNRD2 protein levels in a heterologous expression system. This case expands the genetic spectrum of FGD5 and suggests a potential association between TXNRD2 variants and electrocardiographic abnormalities. Our findings underscore the importance of TXNRD2 in adrenal redox homeostasis and provide new insights for FGD5 diagnosis.
[Familial glucocorticoid deficiency type 2 caused by MRAP gene variation in 2 cases].
2例患儿以低血糖反复发作伴皮肤色素沉着、生长发育迟缓为主要表现，基因全外显子测序均为MRPA基因复合杂合变异，均诊断为家族性糖皮质激素缺乏症2型。2例患儿经口服给予氢化可的松替代治疗后皮肤色素沉着症状明显改善，低血糖和抽搐等症状均明显控制，智力发育和功能评估达到同龄儿标准。此外，根据血清电解质水平适当补充小剂量氟氢可的松可能会改善患者的生长发育情况。.
Publicações recentes
A rare case report of familial glucocorticoid deficiency type 4 (GCCD4) with dilated cardiomyopathy: a 3-year follow-up study.
Identification of novel and recurrent mutations in nicotinamide nucleotide transhydrogenase (NNT) underlying familial glucocorticoid deficiency-type 4 in multiple Saudi families.
Unmasking Isolated Glucocorticoid Deficiency: Clinical Insights From 2 Cases.
Polymorphism of Melanocortin Receptor Genes-Association with Inflammatory Traits and Diseases.
📖 RevisãoInherited, Non-CAH Primary Adrenal Insufficiency in Children: A Genetic and Clinical Profile from a Tertiary Care Centre.
🥈 Observacional📚 EuropePMC101 artigos no totalmostrando 75
A rare case report of familial glucocorticoid deficiency type 4 (GCCD4) with dilated cardiomyopathy: a 3-year follow-up study.
Translational pediatricsIdentification of novel and recurrent mutations in nicotinamide nucleotide transhydrogenase (NNT) underlying familial glucocorticoid deficiency-type 4 in multiple Saudi families.
Journal of clinical & translational endocrinologyUnmasking Isolated Glucocorticoid Deficiency: Clinical Insights From 2 Cases.
JCEM case reportsPolymorphism of Melanocortin Receptor Genes-Association with Inflammatory Traits and Diseases.
Diseases (Basel, Switzerland)Inherited, Non-CAH Primary Adrenal Insufficiency in Children: A Genetic and Clinical Profile from a Tertiary Care Centre.
Indian journal of endocrinology and metabolismUniparental disomy leads to a novel cause of MC2R-related familial glucocorticoid deficiency type 1.
European journal of endocrinologyCase report and literature review: novel TXNRD2 compound heterozygous variants in familial glucocorticoid deficiency type 5.
Frontiers in pediatrics[Familial glucocorticoid deficiency type 2 caused by MRAP gene variation in 2 cases].
Zhonghua er ke za zhi = Chinese journal of pediatricsAntenatal diagnosis and early postnatal management of a neonate with type 1 familial glucocorticoid deficiency.
BMJ case reportsFamilial glucocorticoid deficiency: genetic insights and treatment strategies in resource-limited settings.
BMJ case reportsFamilial Glucocorticoid Deficiency Type 4 Caused by a Novel Mutation in the Nicotinamide Nucleotide Transhydrogenase (NNT) Gene: A Clinical Report of Two Siblings.
CureusPrimary adrenal insufficiency in children excluding congenital adrenal hyperplasia: insights from 33-year single-center experience in Tunisia.
Archives de pediatrie : organe officiel de la Societe francaise de pediatriePurification and characterization of recombinant human mitochondrial proton-pumping nicotinamide nucleotide transhydrogenase.
Biochimica et biophysica acta. BioenergeticsFamilial Glucocorticoid Deficiency in Twins: A Novel Mutation and Impact on Social Determinants of Health Outcome.
JCEM case reportsClinical and Genetic Mechanisms in Patients with <italic>MC2R</italic> Deficiency Presenting with Early Puberty.
Hormone research in paediatricsExpanding the Phenotype of Congenital Glucocorticoid Deficiency: An Iranian Patient with Cholestasis due to Pathogenic Variants in the MC2R Gene.
International journal of endocrinologyEstablishment of human induced pluripotent stem cell line SDQLCHi029-A from one Type 1 familial glucocorticoid deficiency patient carrying compound heterozygote mutations in MC2R gene.
Stem cell researchFollow up of a rare case of adrenal insufficiency due to NNT mutation.
BMJ case reportsA Rare Presentation of Homozygous Pathogenic Variant in MC2R Gene with Salt-Wasting Crisis in a Neonate.
Molecular syndromologyFamilial Glucocorticoid Deficiency: the changing landscape of an eponymous syndrome.
Frontiers in endocrinologyThioredoxin Reductase 2 Variant as a Cause of Micropenis, Undescended Testis, and Selective Glucocorticoid Deficiency.
Hormone research in paediatrics[Clinical characteristics and genetic analysis of two children with Familial glucocorticoid deficiency type 1 due to variants of MC2R gene].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsA novel mutation in the NNT gene causing familial glucocorticoid deficiency, with a literature review.
Annales d'endocrinologieSCARB1 downregulation in adrenal insufficiency with Allgrove syndrome.
Orphanet journal of rare diseasesA rare homozygous variant of MC2R gene identified in a Chinese family with familial glucocorticoid deficiency type 1: A case report.
Frontiers in endocrinologyFamilial Glucocorticoid Deficiency Presenting with Tonic-Clonic Seizure: A Case Report.
Children (Basel, Switzerland)A Novel Mutation in Melanocortin Receptor 2 and a Reported Mutation in Melanocortin Receptor 2 Accessory Protein: Three Chinese Cases with Familial Glucocorticoid Deficiency.
Molecular syndromologyRare forms of genetic paediatric adrenal insufficiency: Excluding congenital adrenal hyperplasia.
Reviews in endocrine & metabolic disordersAdrenal Dysfunction in Mitochondrial Diseases.
International journal of molecular sciencesTwo siblings with non-classic P450scc deficiency resulted from a novel mutation in CYP11A1 gene misdiagnosed as familial glucocorticoid deficiency.
BMJ case reportsNicotinamide Nucleotide Transhydrogenase Is Essential for Adrenal Steroidogenesis: Clinical and In Vitro Lessons.
The Journal of clinical endocrinology and metabolismGrowth alterations in rare forms of primary adrenal insufficiency: a neglected issue in paediatric endocrinology.
Endocrine50 Years Ago in TheJournalofPediatrics: Isolated Cortisol Deficiency due to ACTH Resistance: An Early Description of Familial Glucocorticoid Deficiency.
The Journal of pediatricsA Novel Homozygous MC2R Variant Leading to Type-1 Familial Glucocorticoid Deficiency.
Journal of the Endocrine SocietyNovel Melano-Cortin-2-Receptor Gene Mutation Presenting With Infantile Cholestasis: A Case Report.
Clinical medicine insights. Case reportsCase Report: Neonatal Cholestasis as Early Manifestation of Primary Adrenal Insufficiency.
Frontiers in pediatricsMisfolded G Protein-Coupled Receptors and Endocrine Disease. Molecular Mechanisms and Therapeutic Prospects.
International journal of molecular sciencesHormone resistance in children: what primary care physicians need to know.
Acta bio-medica : Atenei ParmensisA rare and preventable aetiology of neurodevelopmental delay and epilepsy: familial glucocorticoid deficiency.
Journal of pediatric endocrinology & metabolism : JPEMAdrenal cortex development and related disorders leading to adrenal insufficiency.
Molecular and cellular endocrinologyA Chinese child with hyperpigmentation diagnosed with familial glucocorticoid deficiency type 1 using whole-exome sequencing.
Pediatrics and neonatologyPrimary Adrenal Insufficiency in Childhood: Data From a Large Nationwide Cohort.
The Journal of clinical endocrinology and metabolismBone phenotype in melanocortin 2 receptor-deficient mice.
Bone reportsThe Genetic Perspective of Familial Glucocorticoid Deficiency: In Silico Analysis of Two Novel Variants.
International journal of endocrinologyPediatric Primary Adrenal Insufficiency: A 21-year Single Center Experience.
Journal of clinical research in pediatric endocrinologyPrimary Adrenocortical Insufficiency Case Series in the Neonatal Period: Genetic Etiologies Are More Common Than Expected.
Frontiers in pediatricsEmerging roles of melanocortin receptor accessory proteins (MRAP and MRAP2) in physiology and pathophysiology.
GeneSTAR mutations causing non‑classical lipoid adrenal hyperplasia manifested as familial glucocorticoid deficiency.
Molecular medicine reportsFamilial glucocorticoid deficiency presenting with hyperpigmentation, gigantism, and motor development delay: a case report.
Journal of medical case reportsStructure and mechanism of mitochondrial proton-translocating transhydrogenase.
NatureNovel Melanocortin 2 Receptor Variant in a Chinese Infant With Familial Glucocorticoid Deficiency Type 1, Case Report and Review of Literature.
Frontiers in endocrinologyACTH signalling and adrenal development: lessons from mouse models.
Endocrine connectionsIsolated glucocorticoid deficiency: Genetic causes and animal models.
The Journal of steroid biochemistry and molecular biologyACTH Resistance Syndrome: An Experience of Three Cases.
Indian journal of endocrinology and metabolismCortisol deficiency as a rare cause of neonatal cholestasis.
Developmental period medicineMRAP deficiency impairs adrenal progenitor cell differentiation and gland zonation.
FASEB journal : official publication of the Federation of American Societies for Experimental BiologyConsequences of mutations and inborn errors of selenoprotein biosynthesis and functions.
Free radical biology & medicinePathophysiology of melanocortin receptors and their accessory proteins.
Best practice & research. Clinical endocrinology & metabolismA rare cause of primary adrenal insufficiency due to a homozygous Arg188Cys mutation in the STAR gene.
Endocrinology, diabetes & metabolism case reportsRare monogenic causes of primary adrenal insufficiency.
Current opinion in endocrinology, diabetes, and obesityEarly diagnosis in familial glucocorticoid deficiency.
Dermato-endocrinologyMECHANISMS IN ENDOCRINOLOGY: Update on pathogenesis of primary adrenal insufficiency: beyond steroid enzyme deficiency and autoimmune adrenal destruction.
European journal of endocrinologyA Pilot Study Evaluating Therapeutic Response of Different Dosage of Oral Glucocorticoid in Two Children with Familial Glucocorticoid Deficiency Presenting with Diffuse Mucocutaneous Hyperpigmentation.
Indian journal of dermatologyWhy 21? The significance of selenoproteins for human health revealed by inborn errors of metabolism.
FASEB journal : official publication of the Federation of American Societies for Experimental BiologyNeonatal presentation of familial glucocorticoid deficiency with a MRAP mutation: A case report.
Molecular genetics and metabolism reportsCongenital primary adrenal insufficiency and selective aldosterone defects presenting as salt-wasting in infancy: a single center 10-year experience.
Italian journal of pediatricsThree-Dimensional Model of Human Nicotinamide Nucleotide Transhydrogenase (NNT) and Sequence-Structure Analysis of its Disease-Causing Variations.
Human mutationPrimary Adrenocortical Insufficiency Case Series: Genetic Etiologies More Common than Expected.
Hormone research in paediatricsA novel homozygous insertion and review of published mutations in the NNT gene causing familial glucocorticoid deficiency (FGD).
European journal of medical geneticsImpact of a novel homozygous mutation in nicotinamide nucleotide transhydrogenase on mitochondrial DNA integrity in a case of familial glucocorticoid deficiency.
BBA clinicalWhole-Exome Sequencing in the Differential Diagnosis of Primary Adrenal Insufficiency in Children.
Frontiers in endocrinologyMelanocortin receptor accessory proteins in adrenal disease and obesity.
Frontiers in neuroscienceCombined mineralocorticoid and glucocorticoid deficiency is caused by a novel founder nicotinamide nucleotide transhydrogenase mutation that alters mitochondrial morphology and increases oxidative stress.
Journal of medical geneticsCombined adrenal failure and testicular adrenal rest tumor in a patient with nicotinamide nucleotide transhydrogenase deficiency.
Journal of pediatric endocrinology & metabolism : JPEMGenetic forms of adrenal insufficiency.
Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical EndocrinologistsAssociações
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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.
- A rare case report of familial glucocorticoid deficiency type 4 (GCCD4) with dilated cardiomyopathy: a 3-year follow-up study.
- Identification of novel and recurrent mutations in nicotinamide nucleotide transhydrogenase (NNT) underlying familial glucocorticoid deficiency-type 4 in multiple Saudi families.
- Unmasking Isolated Glucocorticoid Deficiency: Clinical Insights From 2 Cases.
- Case report and literature review: novel TXNRD2 compound heterozygous variants in familial glucocorticoid deficiency type 5.
- [Familial glucocorticoid deficiency type 2 caused by MRAP gene variation in 2 cases].
- Polymorphism of Melanocortin Receptor Genes-Association with Inflammatory Traits and Diseases.
- Inherited, Non-CAH Primary Adrenal Insufficiency in Children: A Genetic and Clinical Profile from a Tertiary Care Centre.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:361(Orphanet)
- MONDO:0008733(MONDO)
- GARD:2498(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q5572316(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