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Anophthalmia/microphthalmia - esophageal atresia
1 OMIM reference -
1 associated gene
19 signs/symptoms
PROTEIN INTERACTIONS: 2
46,XY complete gonadal dysgenesis
7 OMIM references -
8 associated genes
5 signs/symptoms
Anophthalmia/microphthalmia - esophageal atresia
46,XY complete gonadal dysgenesis

SOX2
(UniProt - OMIM)
 CBX2
(UniProt - OMIM)
DHH
(UniProt - OMIM)
DMRT1
(UniProt - OMIM)
DMRT2
(UniProt - OMIM)
MAP3K1
(UniProt - OMIM)
NR0B1
(UniProt - OMIM)
NR5A1
(UniProt - OMIM)
SRY
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
SOX2
SOX2
(0.63)
(0.52)
CBX2
NR5A1


Citations in the biomedical literature:


Anophthalmia/microphthalmia - esophageal atresia
SOX2
46,XY complete gonadal dysgenesis
CBX2 DHH DMRT1 DMRT2 MAP3K1 NR0B1
NR5A1 SRY



Anophthalmia/microphthalmia - esophageal atresia
46,XY complete gonadal dysgenesis

Synonym(s):
- MCOPS3
- Syndromic microphthalmia type 3
Synonym(s):
- 46,XY CGD
- 46,XY pure gonadal dysgenesis
- Swyer syndrome
Classification (Orphanet):
- Rare abdominal surgical disease
- Rare developmental defect during embryogenesis
- Rare endocrine disease
- Rare eye disease
- Rare genetic disease
Classification (Orphanet):
- Rare cardiac disease
- Rare circulatory system disease
- Rare developmental defect during embryogenesis
- Rare endocrine disease
- Rare genetic disease
- Rare gynecologic or obstetric disease
- Rare skin disease
- Rare urogenital disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
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: unknown
Average age onset: adolescence / young
Average age of death: normal
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
No MeSH references
External references:
7 OMIM references -
No MeSH references
Anophthalmia/microphthalmia - esophageal atresia
46,XY complete gonadal dysgenesis

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
- Abnormal / polycystic ovaries
- Late puberty / hypogonadism / hypogenitalism
- Male pseudohermaphrodism / lack of virilisation
- Small / atrophic / hypoplastic testes / monorchism / microorchidism / anorchia
- X-linked recessive inheritance