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Posterior polar cataract

7 OMIM references -
5 associated genes
No signs/symptoms info

PROTEIN INTERACTIONS: 1

Metachondromatosis

1 OMIM reference -
1 associated gene
10 signs/symptoms

Posterior polar cataract

Metachondromatosis

CHMP4B	(UniProt - OMIM)		PTPN11	(UniProt - OMIM)
CRYAB	(UniProt - OMIM)
EPHA2	(UniProt - OMIM)
GJA3	(UniProt - OMIM)
PITX3	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	EPHA2	(0.77)	PTPN11

Citations in the biomedical literature:

Posterior polar cataract		Metachondromatosis
	Synonym(s): - Posterior subcapsular cataract		Synonym(s): (no synonyms)

	Classification (Orphanet): - Rare developmental defect during embryogenesis - 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: (no data available)		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: childhood Average age of death: normal Type of inheritance: autosomal dominant

	External references: 7 OMIM references - No MeSH references		External references: 1 OMIM reference - No MeSH references

Metachondromatosis
	Very frequent - Autosomal dominant inheritance - Bone pain - Cranial nerves palsy - Enchondroses - Epiphyseal anomaly - Exostoses - Metaphyseal anomaly - Osteonecrosis / bone infarction - Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality - Periarticular tissue anomaly / extraarticular calcifications
Posterior polar cataract
(no data available)