A síndrome Triplo A é uma doença multissistêmica muito rara, caracterizada por insuficiência adrenal com deficiência isolada de glicocorticóides, acalasia, alacrima, disfunção autonômica e neurodegeneração.
Introdução
O que você precisa saber de cara
A síndrome Triplo A é uma doença multissistêmica muito rara, caracterizada por insuficiência adrenal com deficiência isolada de glicocorticóides, acalasia, alacrima, disfunção autonômica e neurodegeneração.
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
+ 20 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 51 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
3 genes identificados com associação a esta condição. Padrão de herança: Autosomal recessive.
Plays a role in the normal development of the peripheral and central nervous system (PubMed:11062474, PubMed:11159947, PubMed:16022285). Required for the correct localization of aurora kinase AURKA and the microtubule minus end-binding protein NUMA1 as well as a subset of AURKA targets which ensures proper spindle formation and timely chromosome alignment (PubMed:26246606)
Nucleus, nuclear pore complexCytoplasm, cytoskeleton, spindle poleNucleus envelope
Achalasia-addisonianism-alacrima syndrome
An autosomal recessive disorder characterized by adreno-corticotropic hormone (ACTH)-resistant adrenal failure, achalasia of the esophageal cardia and alacrima. The syndrome is associated with variable and progressive neurological impairment involving the central, peripheral, and autonomic nervous system. Other features such as palmoplantar hyperkeratosis, short stature, facial dysmorphy and osteoporosis may also be present.
Involved in endoplasmic reticulum to Golgi apparatus trafficking at a very early stage
Golgi apparatusGolgi apparatus, cis-Golgi network
Muscular dystrophy, limb-girdle, autosomal recessive 18
A form of limb-girdle muscular dystrophy characterized by proximal muscle weakness with childhood onset, resulting in gait abnormalities and scapular winging. Serum creatine kinase is increased. A subset of patients may show a hyperkinetic movement disorder with chorea, ataxia, or dystonia and global developmental delay.
Regulatory subunit of the GMPPA-GMPPB mannose-1-phosphate guanylyltransferase complex; reduces the catalytic activity of GMPPB when part of the complex (PubMed:24035193, PubMed:33986552). Mediates allosteric feedback inhibition of GMPPB catalytic activity upon binding GDP-alpha-D-mannose (PubMed:24035193, PubMed:33986552). Together with GMPPB regulates GDP-alpha-D-mannose levels (PubMed:33986552)
Cytoplasm
Alacrima, achalasia, and impaired intellectual development syndrome
An autosomal recessive disorder characterized by onset of alacrima, achalasia, and intellectual disability at birth or in early infancy. More variable features include hypotonia, gait abnormalities, anisocoria, and visual or hearing deficits. The disorder shows similarity to the triple A syndrome, but patients with AAMR do not have adrenal insufficiency.
Variantes genéticas (ClinVar)
423 variantes patogênicas registradas no ClinVar.
Vias biológicas (Reactome)
30 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 — Síndrome triplo A
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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
Allgrove syndrome with early neurodegeneration in a child: A case report from Syria.
Allgrove syndrome (AS), or "Triple A" syndrome, is a rare autosomal recessive disorder first described in 1978. It affects approximately 1 in a million individuals and is caused by mutations in the AAAS gene on chromosome 12q13. This gene encodes the ALADIN protein, essential for cellular function in various tissues. The syndrome is defined by a triad of clinical features: alacrima (absence of tears), achalasia (esophageal dysfunction), and adrenocorticotropic hormone-resistant adrenal insufficiency. Neurological involvement, including autonomic and peripheral neuropathies, is more commonly observed later in life, making early diagnosis challenging. A 4-year-old girl presented with vomiting, dysphagia, generalized weakness, alacrima, and skin hyperpigmentation. Addison disease was confirmed by elevated adrenocorticotropic hormone levels, and achalasia was diagnosed via a barium swallow test showing a bird's beak sign. Although treatment was initiated, surgery was initially delayed due to the patient's condition. Later, she developed seizures and neurological deterioration. Magnetic resonance imaging revealed cerebral atrophy, confirming the diagnosis of AS with neurological involvement. Treatment included medications targeting adrenal insufficiency and symptom management; however, there was no significant improvement in neurological symptoms or oral intake. Surgical intervention with Heller myotomy and gastrostomy led to improved feeding. AS can lead to serious complications, including life-threatening adrenal crises if undiagnosed. Early identification of glucocorticoid deficiency is vital to prevent mortality and long-term morbidity. Timely recognition and a multidisciplinary approach are essential. Regular follow-ups are necessary to manage neurological progression and support normal development in affected children.
Neurological manifestations of Allgrove syndrome in patients carrying a potentially founder p.Ser263Pro variant in the AAAS gene.
Allgrove syndrome (AS) is a rare, multisystem, autosomal recessive disorder characterized by the triad of symptoms: achalasia, alacrimia and ACTH-resistant adrenal insufficiency. Various and nonspecific neurological symptoms can also develop over time, "blurring" the typical course of this underdiagnosed condition. The incidence of Allgrove syndrome is unknown. Orphanet database reports fewer than 100 published cases, but according to the literature review, at least 206 patients have already been described. The pathogenic variant p.Ser263Pro is one of the most recurrent aberrations affecting the AAAS gene and has been reported in several families of Slavic origin. We investigated genotype-phenotype correlation in 206 patients with AS described in literature (including two novel Polish siblings carrying a homozygous p.Ser263Pro variant in the AAAS gene) and found that neurological symptoms were significantly more common among carriers of p.Ser263Pro variant (33 out of 34, 97.1%) as compared to other AAAS variant carriers (133 out of 172, 77.3%, p = 0.006). While the incidence of the classical clinical triad of AS was similar and observed in 110 out of 206 AS patients (53.4%) and in 18 out of 34 (52.9%) among p.Ser263Pro variant carriers. Furthermore, our report supports the hypothesis of a founder origin of the p.Ser263Pro variant in AAAS gene in a European Caucasian population. Slavic origin was found in 25 out of 36 reported variant carriers (69.4%) and 17 out of 23 (73.9%) who were homozygous for p.Ser263Pro variant. Summarizing, neurological manifestations of AS predominate in patients carrying a potentially founder p.Ser263Pro variant within the AAAS gene.
A Novel AAAS Gene Mutation in Allgrove Syndrome: Case Report and Genetic Insights from a Chinese Xinjiang Girl.
Allgrove Syndrome (AS), also known as Triple A syndrome (AAAS) is a rare autosomal recessive disorder characterized by a triad of alacrima, achalasia of the cardia, and ACTH-resistant adrenocortical insufficiency. The study aimed to broaden the understanding of AS's pathogenesis and clinical presentations within the Chinese population by identifying a novel mutation in the AAAS gene through genetic analysis. A four-year-old girl presented with short stature and recurrent vomiting for over two years. She had never been able to produce tears. Her physical examination showed short stature, undernourishment, dark pigmented dry skin, and reduced subcutaneous fat. The absence of lacrimal gland function was confirmed, and a barium meal test indicated a diagnosis of cardia achalasia. The patient was diagnosed with AS after genetic testing revealed a homozygous mutation, c.904_905delinsG, in exon 9 of the AAAS gene. Both parents were identified as carriers of the mutation, each presenting as heterozygous. Symptomatic supportive care was provided, including anti-inflammatory, hemostatic, acid-suppressive, antispasmodic, and rehydration therapies. A laparoscopic Heller myotomy was performed, which involved incising the muscular layer of the cardia and a gastric fundoplication. Postoperatively, the patient showed smooth feeding, upper gastrointestinal contrast barium passed without obstruction. The patient showed significant improvement and was discharged. The proband's sister was diagnosed with adrenal insufficiency based on hormonal levels and imaging. Genetic testing is instrumental in diagnosing AS, and prompt diagnosis can significantly enhance the quality of life for affected children. The study documented a novel mutation in AS, extending the diversity of known genetic variants. For patients with esophageal achalasia, the choice between balloon dilation and laparoscopic Heller's surgery should be individualized. Early identification and management of AS can significantly benefit affected children.
Allgrove Syndrome in Adults: A Case of an Atypical Presentation.
Allgrove syndrome, or "Triple A" syndrome, is a rare autosomal recessive disorder characterized by achalasia, alacrima, and adrenal insufficiency. Typically diagnosed in childhood or adolescence, its adult presentation remains under-recognized and challenging. We report the case of a 29-year-old Moroccan woman with chronic dysphagia, who was ultimately diagnosed with Allgrove syndrome following the discovery of type 1 achalasia, primary adrenal insufficiency, and alacrima. The diagnosis was delayed, and symptoms had persisted for over a decade before appropriate evaluation. Clinical, endoscopic, radiologic, and manometric findings confirmed the diagnosis. Therapeutic management included corticosteroids and pneumatic dilation, with a favorable outcome. This case highlights the importance of considering Allgrove syndrome in adults with unexplained dysphagia and systemic symptoms.
Endoscopic Controlled Radial Expansion Balloon Dilatation in Infantile Achalasia: A Case Series of Four Infants.
Achalasia cardia is an uncommon esophageal motility disorder that is often misdiagnosed as gastroesophageal reflux disease (GERD). Although rare in infancy, it presents unique diagnostic and therapeutic challenges compared to adults. We describe four infants who presented with early-onset vomiting and feeding difficulties and were diagnosed with achalasia cardia based on characteristic findings on timed barium esophagogram (TBE). None of our patients had features of Allgrove (Triple-A) syndrome, which is characterized by achalasia, alacrimia, and adrenal insufficiency. Serial controlled radial expansion (CRE) balloon dilatation was performed under direct endoscopic vision to relieve lower esophageal sphincter (LES) obstruction. The procedure was uneventful, and three (75%) infants showed marked clinical improvement, remaining symptom-free at a median follow-up of 4.5 months. Congenital esophageal stenosis, an important differential diagnosis in this age group, was carefully excluded based on characteristic endoscopic and radiologic findings. Infantile achalasia is diagnostically challenging because of symptom overlap with GERD and difficulty in performing manometry, limited cooperation for functional studies, and the requirement for specialized pediatric endoscopic equipment due to the small caliber of the esophagus. Timed barium esophagogram remains the most useful diagnostic tool, while CRE balloon dilatation provides a safe and minimally invasive alternative to surgery. Endoscopic CRE balloon dilatation appears to be an effective treatment option for infantile achalasia, with sustained symptom remission and nutritional recovery highlighting its feasibility and clinical value.
Publicações recentes
Allgrove syndrome with early neurodegeneration in a child: A case report from Syria.
Allgrove Syndrome in Adults: A Case of an Atypical Presentation.
Neurological manifestations of Allgrove syndrome in patients carrying a potentially founder p.Ser263Pro variant in the AAAS gene.
Endoscopic Controlled Radial Expansion Balloon Dilatation in Infantile Achalasia: A Case Series of Four Infants.
Gonadal Function and Reproductive Health Challenges in Triple a Syndrome: A Narrative Review.
📚 EuropePMC232 artigos no totalmostrando 101
Allgrove syndrome with early neurodegeneration in a child: A case report from Syria.
MedicineAllgrove Syndrome in Adults: A Case of an Atypical Presentation.
CureusNeurological manifestations of Allgrove syndrome in patients carrying a potentially founder p.Ser263Pro variant in the AAAS gene.
NeurogeneticsEndoscopic Controlled Radial Expansion Balloon Dilatation in Infantile Achalasia: A Case Series of Four Infants.
CureusGonadal Function and Reproductive Health Challenges in Triple a Syndrome: A Narrative Review.
Medicina (Kaunas, Lithuania)Peroral endoscopic myotomy in pediatric achalasia ‒ A two-center retrospective cohort study with early feeding and early discharge.
Revista espanola de enfermedades digestivasPeroral endoscopic myotomy in pediatric triple A syndrome: report of three cases.
Revista espanola de enfermedades digestivasA Novel AAAS Gene Mutation in Allgrove Syndrome: Case Report and Genetic Insights from a Chinese Xinjiang Girl.
Annals of clinical and laboratory scienceInsights into genetic and clinical profiles of triple A syndrome in Sudanese children.
Frontiers in endocrinologyCorneal parameters in pediatric triple a syndrome patients with alacrima.
Ophthalmic geneticsA triple A syndrome with neurological findings; c464G>A mutation in the AAAS gene.
Ideggyogyaszati szemleTriple A Syndrome-A Rare Hereditary Cause of Achalasia.
ACG case reports journalNovel recurrent mutations and genetic diversity in Sudanese children with adrenal insufficiency.
European journal of endocrinologyTwo siblings with triple A syndrome.
BMJ case reportsVery early and severe presentation of Triple A syndrome - case report and review of the literature.
Frontiers in endocrinologyBiallelic NDC1 variants that interfere with ALADIN binding are associated with neuropathy and triple A-like syndrome.
HGG advancesTriple-A Syndrome in Morocco: Founder Effect, Age Estimation of the AAAS c.1331+1G>A Variant, and Implications for Genetic Diagnosis.
Molecular syndromologyFertility and sexual activity in patients with Triple A syndrome.
Frontiers in endocrinologyA 16-year-old boy presented with triple-A syndrome associated with neuromuscular disorders: a case report.
Annals of medicine and surgery (2012)Generation of glucocorticoid-producing cells derived from human pluripotent stem cells.
Cell reports methodsTriple A syndrome: An unusual association with plurihormonal pituitary neuroendocrine tumour.
Clinical neurology and neurosurgeryThe role of WD40 repeat-containing proteins in endocrine (dys)function.
Journal of molecular endocrinologyAlacrimia in a case of suspected achalasia: A phenotypic variation of triple A syndrome?
Indian journal of ophthalmologyThe evaluation of thiol-disulfide homeostasis in children with Triple-A syndrome.
European review for medical and pharmacological sciencesRare forms of genetic paediatric adrenal insufficiency: Excluding congenital adrenal hyperplasia.
Reviews in endocrine & metabolic disordersAllgrove syndrome: a case report.
Oxford medical case reportsThe clinical and laboratory features of patients with triple A syndrome: a single-center experience in Turkey.
EndocrineA rare case of Allgrove Syndrome associated with growth hormone deficiency in an 8-year-Old child: A case report.
Annals of medicine and surgery (2012)[A case of triple A syndrome with c.463C>T mutation in the AAAS gene].
Rinsho shinkeigaku = Clinical neurologyTriple A syndrome-related achalasia treated by per-oral endoscopic myotomy: Three case reports.
World journal of clinical casesRecurrent pulmonary infection leads to the diagnosis of triple A syndrome: a case report.
Journal of medical case reportsA rare cause of infantile achalasia: GMPPA-congenital disorder of glycosylation with two novel compound heterozygous variants.
American journal of medical genetics. Part AAAMR syndrome in a 22-month-old and literature review.
Ophthalmic geneticsFunctional validation of a novel AAAS variant in an atypical presentation of Allgrove syndrome.
Molecular genetics & genomic medicineUnusual clinical presentation and new mutation in a case of triple A syndrome.
Endocrinologia, diabetes y nutricionA Novel Variant in Triple A Syndrome.
Acta endocrinologica (Bucharest, Romania : 2005)Mineralocorticoid Deficiency as an Early Presenting Symptom of Allgrove Syndrome With Novel Mutation: A Case Report.
CureusThe Retina in Patients With Triple A Syndrome: A Window Into Neurodegeneration?
Frontiers in endocrinologyBilateral Recurrent Laryngeal Nerve Palsy following Total Thyroidectomy in Triple A Syndrome, an Unexpected but Critical Complication.
Case reports in otolaryngologyAllgrove syndrome: Case report of 18 years old male:the first case report from Syria.
Annals of medicine and surgery (2012)Neurophysiological Characteristics of Allgrove (Triple A) Syndrome: Case Report and Literature Review.
Child neurology openTriple A Multisystem Disorder: Allgrove Syndrome.
CureusMutation of the nuclear pore complex component, aladin1, disrupts asymmetric cell division in Zea mays (maize).
G3 (Bethesda, Md.)Genetic aetiology of primary adrenal insufficiency in Chinese children.
BMC medical genomicsProtein signature of human skin fibroblasts allows the study of the molecular etiology of rare neurological diseases.
Orphanet journal of rare diseasesSpectral Domain - Optical Coherence Tomography findings in Triple-A Syndrome - A case series from Pakistan.
Pakistan journal of medical sciencesSpectrum of Addison's Disease in Children.
Journal of the College of Physicians and Surgeons--Pakistan : JCPSPTriple A syndrome: a case report.
Tropical doctorPediatric Primary Adrenal Insufficiency: A 21-year Single Center Experience.
Journal of clinical research in pediatric endocrinologyTriple-A Syndrome: A rare cause of pediatric achalasia.
Digestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the LiverTriple A syndrome (Allgrove syndrome) - A journey from clinical symptoms to a syndrome.
Journal of family medicine and primary careTriple A (Allgrove) syndrome due to AAAS gene mutation with a rare association of amyotrophy.
Hormones (Athens, Greece)The use of topical cyclosporine A 0.05% as treatment for primary alacrimia in Allgrove syndrome.
European journal of ophthalmology4th A in a triple A syndrome - A rare case report.
Journal of basic and clinical physiology and pharmacologyTriple-A Syndrome (TAS): An In-Depth Overview on Genetic and Phenotype Heterogeneity.
Protein and peptide lettersPeroral endoscopic myotomy in a child with Triple A syndrome (Allgrove syndrome).
VideoGIE : an official video journal of the American Society for Gastrointestinal EndoscopyCase report of a familial triple: a syndrome and review of the literature.
MedicineCLINICAL COURSE OF A UNIQUE CASE OF ALLGROVE SYNDROME AND CHALLENGES OF HYPOGLYCEMIA MANAGEMENT.
AACE clinical case reportsTwo novel truncating variants of the AAAS gene causative of the triple A syndrome.
Journal of endocrinological investigationEvidence of GMPPA founder mutation in indigenous Guatemalan population associated with alacrima, achalasia, and mental retardation syndrome.
American journal of medical genetics. Part ATriple A syndrome (Allgrove syndrome): improving outcomes with a multidisciplinary approach.
Pediatric health, medicine and therapeuticsA broad range of symptoms in allgrove syndrome: single center experience in Southeast Anatolia.
Journal of endocrinological investigationA Child with Weight Loss and Alacrimation: Triple A Syndrome.
Journal of the College of Physicians and Surgeons--Pakistan : JCPSPEtiology of primary adrenal insufficiency in children: a 29-year single-center experience.
Journal of pediatric endocrinology & metabolism : JPEMHomozygous deletion of the entire AAAS gene in a triple A syndrome patient.
European journal of medical geneticsIsolated 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 metabolismTriple A syndrome: two siblings with a novel mutation in the AAAS gene.
Hormones (Athens, Greece)SGPL1 Deficiency: A Rare Cause of Primary Adrenal Insufficiency.
The Journal of clinical endocrinology and metabolismTriple A patient cells suffering from mitotic defects fail to localize PGRMC1 to mitotic kinetochore fibers.
Cell divisionTriple A syndrome presenting as complicated hereditary spastic paraplegia.
Molecular genetics & genomic medicineAllgrove syndrome and motor neuron disease.
Neurology internationalClinical heterogeneity and molecular profile of triple A syndrome: a study of seven cases.
Journal of pediatric endocrinology & metabolism : JPEMAAA Syndrome, Case Report of a Rare Disease.
Pakistan journal of medical sciencesPer-oral endoscopic myotomy for esophageal achalasia in a case of Allgrove syndrome.
Clinical journal of gastroenterologyCompensation for chronic oxidative stress in ALADIN null mice.
Biology open"Crying without tears" as an early diagnostic sign-post of triple A (Allgrove) syndrome: two case reports.
BMC pediatricsClinical and genetic characterisation of a series of patients with triple A syndrome.
European journal of pediatricsTriple-A syndrome: a wide spectrum of adrenal dysfunction.
European journal of endocrinologyPhenotype-genotype spectrum of AAA syndrome from Western India and systematic review of literature.
Endocrine connectionsA novel mutation in GMPPA in siblings with apparent intellectual disability, epilepsy, dysmorphism, and autonomic dysfunction.
American journal of medical genetics. Part ATriple A Syndrome: Preliminary Response to the Antioxidant N-Acetylcysteine Treatment in a Child.
Hormone research in paediatricsMuscle Pathology as a Diagnostic Clue to Allgrove Syndrome.
Journal of neuropathology and experimental neurologyEdentulous child with Allgrove syndrome: a rare case report.
Korean journal of pediatricsIdentification of a novel putative interaction partner of the nucleoporin ALADIN.
Biology openA novel TRAPPC11 mutation in two Turkish families associated with cerebral atrophy, global retardation, scoliosis, achalasia and alacrima.
Journal of medical geneticsAlacrima as a Harbinger of Adrenal Insufficiency in a Child with Allgrove (AAA) Syndrome.
The American journal of case reportsSevere malnutrition causing superior mesenteric artery syndrome in an adolescent with Triple A syndrome.
Journal of pediatric endocrinology & metabolism : JPEMTriple A to triple S: From diagnosis, to anesthetic management of Allgrove syndrome.
Journal of clinical anesthesiaAchalasia: Outcome in children.
Journal of gastroenterology and hepatologyThree cases of triple A syndrome (Allgrove syndrome) in pediatric surgeons' view.
Acta chirurgica BelgicaPulmonary Mycobacterium abscessus Infection in a Patient with Triple A Syndrome.
Journal of tropical pediatricsNovel Mutations in a Patient with Triple A Syndrome.
Indian pediatricsTransport of glutathione into the nucleus.
Free radical biology & medicineAllgrove (Triple A) Syndrome: A Case Report from the Kashmir Valley.
Endocrinology and metabolism (Seoul, Korea)The nucleoporin ALADIN regulates Aurora A localization to ensure robust mitotic spindle formation.
Molecular biology of the cellLow bone mineral density for age/osteoporosis in triple A syndrome-an overlooked symptom of unexplained etiology.
Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA[Bronchiectasis revealing triple A syndrome].
Archives de pediatrie : organe officiel de la Societe francaise de pediatrieOrgan-specific Neurodegeneration in Triple A syndrome-related Achalasia.
The American journal of medicineRole of ALADIN in human adrenocortical cells for oxidative stress response and steroidogenesis.
PloS oneTriple A syndrome with a novel indel mutation in the AAAS gene and delayed puberty.
Journal of pediatric endocrinology & metabolism : JPEMAssociações
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Comunidades
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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.
- Allgrove syndrome with early neurodegeneration in a child: A case report from Syria.
- Neurological manifestations of Allgrove syndrome in patients carrying a potentially founder p.Ser263Pro variant in the AAAS gene.
- A Novel AAAS Gene Mutation in Allgrove Syndrome: Case Report and Genetic Insights from a Chinese Xinjiang Girl.
- Allgrove Syndrome in Adults: A Case of an Atypical Presentation.
- Endoscopic Controlled Radial Expansion Balloon Dilatation in Infantile Achalasia: A Case Series of Four Infants.
- Gonadal Function and Reproductive Health Challenges in Triple a Syndrome: A Narrative Review.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:869(Orphanet)
- OMIM OMIM:231550(OMIM)
- MONDO:0009279(MONDO)
- GARD:457(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q7843329(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
