Meckel syndrome, type 3

General Information (adopted from Orphanet):

Synonyms, Signs: MECKEL-GRUBER SYNDROME, TYPE 3
MKS3
Number of Symptoms 10
OrphanetNr:
OMIM Id: 607361
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000003) Multicystic kidney dysplasia 17 / 7739
2
(HPO:0002084) Encephalocele 70 / 7739
3
(HPO:0001305) Dandy-Walker malformation rare [HPO:skoehler] 79 / 7739
4
(HPO:0000175) Cleft palate rare [HPO:skoehler] 349 / 7739
5
(HPO:0010442) Polydactyly 69 / 7739
6
(HPO:0001162) Postaxial hand polydactyly 119 / 7739
7
(HPO:0001408) Bile duct proliferation 22 / 7739
8
(HPO:0001395) Hepatic fibrosis 67 / 7739
9
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
10
(HPO:0000238) Hydrocephalus rare [HPO:skoehler] 278 / 7739

Associated genes:

TMEM67;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Meckel syndrome is an autosomal recessive disorder characterized by a combination of renal cysts and variably associated features including developmental anomalies of the central nervous system (typically encephalocele), hepatic ductal dysplasia and cysts, and polydactyly. For a more ...
Molecular genetics OMIM Smith et al. (2006) sequenced the human ortholog of rat Wpk, TMEM67 (609884), and found different pathogenic mutations in 5 MKS3 families. Consistent with the consanguineous nature of these families, all the mutations were homozygous.

Consugar ...