ODCs

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Anophthalmia/microphthalmia - esophageal atresia

1 OMIM reference -
1 associated gene
19 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 4

Ulnar-mammary syndrome

1 OMIM reference -
1 associated gene
38 signs/symptoms

Anophthalmia/microphthalmia - esophageal atresia

Ulnar-mammary syndrome

SOX2

(UniProt - OMIM)

TBX3

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	SOX2	(0.63)	TBX3

Citations in the biomedical literature:

Anophthalmia/microphthalmia - esophageal atresia		Ulnar-mammary syndrome
	Synonym(s): - MCOPS3 - Syndromic microphthalmia type 3		Synonym(s): - Schinzel syndrome - UMS - Ulnar-mammary syndrome of Pallister

	Classification (Orphanet): - Rare abdominal surgical disease - Rare developmental defect during embryogenesis - Rare endocrine disease - Rare eye disease - Rare genetic disease		Classification (Orphanet): - Rare abdominal surgical disease - Rare bone disease - Rare developmental defect during embryogenesis - Rare endocrine disease - Rare genetic disease - Rare gynecologic or obstetric 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: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: C536937


COMMON SIGNS	- Autosomal dominant inheritance - Micropenis / small penis / agenesis - Undescended / ectopic testes / cryptorchidia / unfixed testes - Ventricular septal defect / interventricular communication

Anophthalmia/microphthalmia - esophageal atresia		Ulnar-mammary syndrome
	Very frequent - Anophthalmos / anophthalmia / microphthalmos / microphthalmia - Tracheo-esophageal fistula / esophageal atresia / stenosis Frequent - Abnormal vertebral size / shape - Corpus callosum / septum pellucidum total / partial agenesis - External ear anomalies - 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 - Patent ductus arteriosus - Rib number anomalies - Sclerocornea		Very frequent - Decreased body hair / axillar / pubic hairlessness - Hypohidrosis / decreased sweating / thermoregulation disorder / heat intolerance - Oligodactyly / ectrodactyly of fingers - Thin / hypoplastic / hyperconvex fingernails - Ulnar / cubital anomaly / absence / agenesis / hypoplasia / abnormal ulnar / cubital ray Frequent - Generalized obesity - Hypoplastic / absent nipples - Late puberty / hypogonadism / hypogenitalism - Short stature / dwarfism / nanism - Sterility / hypofertility - Uterine / uterus / Fallopian tubes anomalies - Wrist / carpal anomalies Occasional - Abnormal dentition / dental position / implantation / unerupted / dental ankylosis - Absent pectoral muscles - Agenesis / hypoplasia / aplasia of kidneys - Anodontia / oligodontia / hypodontia - Anus ectopia / anteposition / malposition - Breast tissue / mammary gland absence / aplasia - Camptodactyly of some fingers - Cardiac conduction defect / sinoauricular / heart / auriculoventricular / branch block - Clavicle absent / abnormal - Gastric / pyloric stenosis - Hand agenesis / absence - Humerus anomaly / absence / agenesis / hypoplasia / congenital humerus varus - Imperforate anus / rectum atresia / agenesis / recto-vaginal / vesical / perineal fistula - Inguinal / inguinoscrotal / crural hernia - Laryngomalacia - Metacarpal anomalies / Archibald's sign - Pectus carinatum - Postaxial polydactyly (hand) - Radius anomaly / absence / agenesis / hypoplasia / abnormal radial ray - Scapula structural / position anomaly / congenital elevation / Sprengel anomaly - Terminal / third phalangeal bone of fingers hypoplasia - Thin / hypoplastic toenails