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Anophthalmia/microphthalmia - esophageal atresia
1 OMIM reference -
1 associated gene
116 connected diseases
19 signs/symptoms
Disease Type of connection
Colobomatous microphthalmia
Isolated anophthalmia - microphthalmia
Septo-optic dysplasia
Precursor B-cell acute lymphoblastic leukemia
Coffin-Siris syndrome
Peters anomaly
Isolated brachycephaly
Isolated scaphocephaly
46,XY complete gonadal dysgenesis
Atypical teratoid tumor
CHARGE syndrome
Familial multiple meningioma
Familial rhabdoid tumor
Kallmann syndrome
Neurofibromatosis type 3
Normosmic congenital hypogonadotropic hypogonadism
Omenn syndrome
Aniridia - cerebellar ataxia - intellectual deficit
Autosomal dominant keratitis
Foveal hypoplasia - presenile cataract
Isolated aniridia
Isolated optic nerve hypoplasia
Morning glory syndrome
WAGR syndrome
12p12.1 microdeletion syndrome
3M syndrome
Acrocallosal syndrome
Acrodysostosis with multiple hormone resistance
Acute myeloid leukemia with t(8;21)(q22;q22) translocation
Anauxetic dysplasia
Atypical Rett syndrome
Autosomal agammaglobulinemia
Autosomal dominant Charcot-Marie-Tooth disease type 2F
Autosomal dominant aplasia and myelodysplasia
Autosomal dominant limb-girdle muscular dystrophy type 1D
Autosomal dominant limb-girdle muscular dystrophy type 1F
Autosomal dominant nonsyndromic intellectual deficit
Autosomal recessive primary microcephaly
Axenfeld anomaly
Axenfeld-Rieger syndrome
Carney complex
Chronic myeloid leukemia
Chronic myelomonocytic leukemia
Congenital fibrosis of extraocular muscles
Congenital mesoblastic nephroma
Cornelia de Lange syndrome
Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
Desmoid tumor
Developmental and speech delay due to SOX5 deficiency
Distal hereditary motor neuropathy type 2
Distal myopathy, Welander type
Essential thrombocythemia
Extraskeletal Ewing sarcoma
Extraskeletal myxoid chondrosarcoma
Familial atrial myxoma
Familial isolated dilated cardiomyopathy
Familial isolated hyperparathyroidism
Familial parathyroid adenoma
Familial platelet syndrome with predisposition to acute myelogenous leukemia
Frontonasal dysplasia with alopecia and genital anomaly
Fuchs endothelial corneal dystrophy
Greig cephalopolysyndactyly syndrome
HSD10 disease, atypical type
HSD10 disease, infantile type
HSD10 disease, neonatal type
Helicoid peripapillary chorioretinal degeneration
Hepatocellular carcinoma, childhood-onset
Hyperparathyroidism - jaw tumor syndrome
Hypotonia with lactic acidemia and hyperammonemia
Intellectual deficit - sparse hair - brachydactyly
Intellectual deficit, X-linked - psychosis - macroorchidism
Isolated ATP synthase deficiency
Isolated delta-storage pool disease
Isolated plagiocephaly
Lethal encephalopathy due to mitochondrial and peroxisomal fission defect
Lissencephaly due to TUBA1A mutation
Mowat-Wilson syndrome due to a point mutation
Mowat-Wilson syndrome due to monosomy 2q22
Muscular dystrophy, Selcen type
Myelodysplastic syndromes
Myelofibrosis with myeloid metaplasia
Neonatal diabetes - congenital hypothyroidism - congenital glaucoma - hepatic fibrosis - polycystic kidneys
Pallister-Hall syndrome
Papillary or follicular thyroid carcinoma
Parathyroid carcinoma
Parietal foramina
Polysyndactyly, bilateral
Polysyndactyly, unilateral
Pontocerebellar hypoplasia type 2
Postaxial polydactyly type A, bilateral
Postaxial polydactyly type A, unilateral
Postaxial polydactyly type B, bilateral
Postaxial polydactyly type B, unilateral
Posterior polymorphous corneal dystrophy
Potocki-Shaffer syndrome
Precursor T-cell acute lymphoblastic leukemia
Primary biliary cirrhosis
Primary pigmented nodular adrenocortical disease
Progressive cerebello-cerebral atrophy
Rett syndrome
Rieger anomaly
Saethre-Chotzen syndrome
Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
Severe neonatal-onset encephalopathy with microcephaly
Simpson-Golabi-Behmel syndrome
Sudden infant death - dysgenesis of the testes
Townes-Brocks syndrome
Trisomy Xq28
Ulnar-mammary syndrome
X-linked non-syndromic intellectual deficit
46,XX gonadal dysgenesis
46,XY partial gonadal dysgenesis
- Syndromic microphthalmia type 3

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

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
External references:
1 OMIM reference -
No MeSH references

Gene symbol UniProt reference OMIM reference
SOX2 P48431184429
Very frequent
- Anophthalmos / anophthalmia / microphthalmos / microphthalmia
- Autosomal dominant inheritance
- Tracheo-esophageal fistula / esophageal atresia / stenosis

- Abnormal vertebral size / shape
- Corpus callosum / septum pellucidum total / partial agenesis
- External ear anomalies
- Undescended / ectopic testes / cryptorchidia / unfixed testes
- Visual loss / blindness / amblyopia

- 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