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2 OMIM references -
6 associated genes
80 connected diseases
14 signs/symptoms
Disease Type of connection
Thyroid hypoplasia
Papillary or follicular thyroid carcinoma
Atrial septal defect, ostium secundum type
Familial atrial fibrillation
Tetralogy of Fallot
Single ventricular septal defect
Benign familial chorea
Brain-lung-thyroid syndrome
Atrial septal defect - atrioventricular conduction defects
Autosomal recessive nonsyndromic sensorineural deafness type DFNB
Bamforth syndrome
Familial gestational hyperthyroidism
Familial hyperthyroidism due to mutations in TSH receptor
Familial isolated congenital asplenia
Familial progressive cardiac conduction defect
Hypoplastic left heart syndrome
Hypothyroidism due to TSH receptor mutations
Pendred syndrome
Essential thrombocythemia
Myelofibrosis with myeloid metaplasia
Complete atrioventricular canal - ventricle hypoplasia
46,XY partial gonadal dysgenesis
8p23.1 microdeletion syndrome
Complete atrioventricular canal - Fallot tetralogy
Complete atrioventricular canal - left heart obstruction
Partial atrioventricular canal
Holt-Oram syndrome
Autosomal dominant hyper-IgE syndrome
Acute myeloid leukemia with t(8;16)(p11;p13) translocation
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
Rubinstein-Taybi syndrome due to CREBBP mutations
Acute promyelocytic leukemia
Fibronectin glomerulopathy
Generalized congenital lipodystrophy with myopathy
Anaplastic ependymoma
Budd-Chiari syndrome
Familial thrombocytosis
Polycythemia vera
Congenital diaphragmatic hernia
Kabuki syndrome
Pancreatic hypoplasia - diabetes - congenital heart disease
Atelosteogenesis type I
Atelosteogenesis type III
Autosomal dominant Larsen syndrome
Boomerang dysplasia
Spondylocarpotarsal synostosis
Chronic myeloid leukemia
Familial pancreatic carcinoma
Familial retinoblastoma
Generalized juvenile polyposis / juvenile polyposis coli
Hereditary hemorrhagic telangiectasia
Monosomy 13q14
Myhre syndrome
Precursor B-cell acute lymphoblastic leukemia
Precursor T-cell acute lymphoblastic leukemia
Primary biliary cirrhosis
Unilateral retinoblastoma
Distal 22q11.2 microdeletion syndrome
17q23.1q23.2 microdeletion syndrome
Alobar holoprosencephaly
Lobar holoprosencephaly
Microform holoprosencephaly
Midline interhemispheric variant of holoprosencephaly
Semilobar holoprosencephaly
Septopreoptic holoprosencephaly
Aneurysm - osteoarthritis syndrome
Familial thoracic aortic aneurysm and aortic dissection
Auriculocondylar syndrome
Autosomal agammaglobulinemia
Autosomal dominant hypocalcemia
Early infantile epileptic encephalopathy
Familial hypocalciuric hypercalcemia type 2
Familial male-limited precocious puberty
Familial multiple nevi flammei
Isolated thyroid-stimulating hormone deficiency
Leydig cell hypoplasia due to complete LH resistance
Leydig cell hypoplasia due to partial LH resistance
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
SHORT syndrome
Sturge-Weber syndrome
(no synonyms)

Classification (Orphanet):
- Rare endocrine disease
- Rare genetic disease

Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -

Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant
External references:
2 OMIM references -
No MeSH references

Very frequent
- Absent / hypotonic / flaccid abdominal wall muscles
- Asthenia / fatigue / weakness
- Coarse face
- Constipation
- Ectopic / agenesis / dysgenesis / hypoplastic thyroid
- Face / facial anomalies
- Hypothyroidy
- Hypotonia
- Large fontanelle / delayed fontanelle closure
- Macroglossia / tongue protrusion / proeminent / hypertrophic
- Muscle weakness / flaccidity
- Sleep and vigilance disorders

- Intellectual deficit / mental / psychomotor retardation / learning disability
- Short stature / dwarfism / nanism