Meckel syndrome type 3

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Meckel syndrome type 3

An autosomal recessive disorder (OMIM:607361) characterised by renal cysts and variably associated features, including developmental anomalies of the CNS (typically encephalocele, hepatic duct dysplasia and cysts) and polydactyly.

Molecular pathology
Caused by defects TMEM67, which encodes meckelin, a key ciliary protein.
References in periodicals archive ?
MKS1 mapped on Ch17q21-q24 [Finnish population] and MKS3 [Pakistan and Oman] on Ch8q24 are the important ones.
1 per 10 000 live births VATER association 16 per 100 000 live births Renal-coloboma 10% of patients with renal syndrome dysplasia Herlyn-Werner- 15%-20% of uterine/vaginal Wunderlich anomalies syndrome Prune belly 1 per 40 000 live births syndrome Branchio-oto-renal 9 cases reported dysplasia Renal-hepatic- Undetermined; fatal at birth pancreatic dysplasia Multiple endocrine One case reported neoplasia type 2A Associated Syndromes Genetics Meckel syndrome Autosomal recessive trait; MKS3 mutation VATER association .
The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome.