ODCs

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Anophthalmia/microphthalmia - esophageal atresia

1 OMIM reference -
1 associated gene
19 signs/symptoms

PROTEIN INTERACTIONS: 1

Primary pigmented nodular adrenocortical disease

3 OMIM references -
3 associated genes
15 signs/symptoms

Anophthalmia/microphthalmia - esophageal atresia

Primary pigmented nodular adrenocortical disease

SOX2	(UniProt - OMIM)	PDE11A	(UniProt - OMIM)
		PDE8B	(UniProt - OMIM)
		PRKAR1A	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	SOX2	(0.63)	PRKAR1A

Citations in the biomedical literature:

Anophthalmia/microphthalmia - esophageal atresia		Primary pigmented nodular adrenocortical disease
	Synonym(s): - MCOPS3 - Syndromic microphthalmia type 3		Synonym(s): - PPNAD

	Classification (Orphanet): - Rare abdominal surgical disease - Rare developmental defect during embryogenesis - Rare endocrine disease - Rare eye disease - Rare genetic disease		Classification (Orphanet): - Rare endocrine disease - Rare genetic disease - Rare infertility

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Endocrine, nutritional and metabolic diseases -

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: no data available Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: variable Average age of death: any age Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - No MeSH references		External references: 3 OMIM references - No MeSH references

Anophthalmia/microphthalmia - esophageal atresia		Primary pigmented nodular adrenocortical disease
	Very frequent - Anophthalmos / anophthalmia / microphthalmos / microphthalmia - Autosomal dominant inheritance - Tracheo-esophageal fistula / esophageal atresia / stenosis Frequent - Abnormal vertebral size / shape - Corpus callosum / septum pellucidum total / partial agenesis - External ear anomalies - Undescended / ectopic testes / cryptorchidia / unfixed testes - Visual loss / blindness / amblyopia Occasional - Coloboma of iris - Failure to thrive / difficulties for feeding in infancy / growth delay - Holoprosencephaly / arhinencephaly / unique lateral ventricle - Hydrocephaly - Hypospadias / epispadias / bent penis - Intellectual deficit / mental / psychomotor retardation / learning disability - Micropenis / small penis / agenesis - Patent ductus arteriosus - Rib number anomalies - Sclerocornea - Ventricular septal defect / interventricular communication		Very frequent - Adrenal glands anomalies - Cortico-adrenal hyperplasia / hypersecretion Frequent - Asthenia / fatigue / weakness - Chronic arterial hypertension - Diabetes mellitus - Late puberty / hypogonadism / hypogenitalism - Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy - Muscle weakness / flaccidity - Mutiple fractures / bone fragility - Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets - Short stature / dwarfism / nanism - Striae - Thin skin - Truncal obesity Occasional - Myopathy