ODCs

Click node...

Anophthalmia/microphthalmia - esophageal atresia

1 OMIM reference -
1 associated gene
19 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 2

3M syndrome

3 OMIM references -
3 associated genes
40 signs/symptoms

Anophthalmia/microphthalmia - esophageal atresia

3M syndrome

SOX2	(UniProt - OMIM)	CCDC8	(UniProt - OMIM)
		CUL7	(UniProt - OMIM)
		OBSL1	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	SOX2	(0.63)	CUL7

Citations in the biomedical literature:

Anophthalmia/microphthalmia - esophageal atresia		3M syndrome
	Synonym(s): - MCOPS3 - Syndromic microphthalmia type 3		Synonym(s): - 3-M syndrome - Dolichospondylic dysplasia - Gloomy face syndrome - Le Merrer syndrome - Yakut short stature syndrome

	Classification (Orphanet): - Rare abdominal surgical disease - Rare developmental defect during embryogenesis - Rare endocrine disease - Rare eye disease - Rare genetic disease		Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic 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: normal Type of inheritance: autosomal recessive

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


COMMON SIGNS	- Abnormal vertebral size / shape - Hypospadias / epispadias / bent penis

Anophthalmia/microphthalmia - esophageal atresia		3M syndrome
	Very frequent - Anophthalmos / anophthalmia / microphthalmos / microphthalmia - Autosomal dominant inheritance - Tracheo-esophageal fistula / esophageal atresia / stenosis Frequent - 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 - 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 - Anteverted nares / nostrils - Autosomal recessive inheritance - Broad forehead - Delayed bone age - Frontal bossing / prominent forehead - Intrauterine growth retardation - Long / large / bulbous nose - Metaphyseal anomaly - Mid-facial hypoplasia / short / small midface - Narrowed / gracile diaphysis / diaphyses / long bones / dolichostenomelia - Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality - Pes talus - Protruding lips - Scapula structural / position anomaly / congenital elevation / Sprengel anomaly - Short neck - Short stature / dwarfism / nanism - Thick / bushy eyebrows - Triangular face Frequent - Delayed dentition / eruption of teeth / lack of eruption of teeth - Dolichocephaly / scaphocephaly - Elbow anomalies(excluding luxation) - Enamel anomaly - Hyperextensible joints / articular hyperlaxity - Long philtrum - Lordosis - Pointed chin - Prominent / bat ears - Rib structure anomalies - Short limbs / micromelia / brachymelia - Short rib cage / thorax - Ulnar / cubital anomaly / absence / agenesis / hypoplasia / abnormal ulnar / cubital ray - Wide rib cage / thorax Occasional - Cerebral vascular anomalies - Clinodactyly of fifth finger - Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana - Kyphosis - Scoliosis - Sterility / hypofertility