Microphthalmia, syndromic 3

Preferred Label : Microphthalmia, syndromic 3;

Symbol : MCOPS3;

CISMeF acronym : MCOPS3;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Microphthalmia and esophageal atresia syndrome; Anophthalmia, clinical, with associated anomalies; Anophthalmia-esophageal-genital syndrome; Aeg syndrome;

Included titles and symbols : Optic nerve hypoplasia and abnormalities of the central nervous system;

Description : Syndromic microphthalmia-3 (MCOPS3) is characterized by clinical anophthalmia or microphthalmia with or without defects of the optic nerve, optic chiasm, and optic tract. Extraocular abnormalities include brain anomalies, seizures, motor disability, neurocognitive delays, sensorineural hearing loss, and esophageal atresia. Hypoplasia of the anterior pituitary is another major complication, which frequently results in growth hormone deficiency; however, gonadotropin deficiency is likely to be the most consistent endocrinopathy in patients with SOX2 mutation (summary by Numakura et al., 2010).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the SRY (sex determining region Y)-box 2 gene (SOX2, 184427.0001);

Prefixed ID : #206900;

Details

Origin ID

206900;

UMLS CUI

C1859773;

Automatic exact mappings (from CISMeF team)
- Anophthalmia or microphthalmia - oesophageal atresia [ICD-11 More detail]
- optic nerve hypoplasia and abnormalities of the central nervous system [MeSH Supplementary Concept]
- optic nerve hypoplasia and abnormalities of the central nervous system [MeSH concept]
- syndromic microphthalmia 3 [DO Concept]
Currated CISMeF NLP mapping
- Anophthalmia/microphthalmia-esophageal atresia syndrome [ORDO Disease]
- SOX2 anophthalmia syndrome (disorder) [SNOMED CT concept]
- microphthalmia, syndromic 3 [MeSH concept]
- microphthalmia, syndromic 3 [MeSH Supplementary Concept]
DO Cross reference
- syndromic microphthalmia 3 [DO Concept]
False automatic mappings
- Anophthalmia-esophageal-genital syndrome syndrome [ORDO Disease]
Genes related to phenotype
- Sry-box 2 [OMIM gene]
HPO term(s)
- Agenesis of corpus callosum [HPO term]
- Anophthalmia [HPO term]
- Anophthalmia, clinical [HPO term]
- Anterior pituitary hypoplasia [HPO term]
- Anterior pituitary hypoplasia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bilateral sensorineural hearing impairment [HPO term]
- Butterfly vertebrae [HPO term]
- Cataract [HPO term]
- Coloboma [HPO term]
- Congenital onset [HPO term]
- Cryptorchidism [HPO term]
- Esophageal atresia [HPO term]
- Frontal bossing [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Growth failure [HPO term]
- Hemivertebrae [HPO term]
- Hypogonadotropic hypogonadism [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Hypospadias [HPO term]
- Hypothalamic hamartoma [HPO term]
- Hypotonia [HPO term]
- Microcephaly [HPO term]
- Micropenis [HPO term]
- Microphthalmia [HPO term]
- Missing ribs [HPO term]
- Optic nerve aplasia [HPO term]
- Optic nerve hypoplasia [HPO term]
- Patent ductus arteriosus [HPO term]
- Postnatal growth retardation [HPO term]
- Rib fusion [HPO term]
- Sclerocornea [HPO term]
- Sensorineural hearing impairment [HPO term]
- Short stature [HPO term]
- Spastic diplegia [HPO term]
- Spastic tetraplegia [HPO term]
- Specific learning disability [HPO term]
- Supernumerary ribs [HPO term]
- Ventricular septal defect [HPO term]
- Vertebral fusion [HPO term]
- Vertebral hypoplasia [HPO term]
ORDO concept(s)
- Anophthalmia/microphthalmia-esophageal atresia syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Anophthalmia-esophageal-genital syndrome syndrome [ORDO Disease]
- Anophthalmia/microphthalmia-esophageal atresia syndrome [ORDO Disease]
- SOX2 anophthalmia syndrome (disorder) [SNOMED CT concept]
- microphthalmia, syndromic 3 [MeSH Supplementary Concept]
- microphthalmia, syndromic 3 [MeSH concept]
- syndromic microphthalmia 3 [DO Concept]

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