Meckel syndrome, type 10

General Information (adopted from Orphanet):

Synonyms, Signs: MKS10
Number of Symptoms 8
OrphanetNr:
OMIM Id: 614175
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:0000107) Renal cyst 126 / 7739
2
 (HPO:0002085) Occipital encephalocele 20 / 7739
3
 (HPO:0100259) Postaxial polydactyly 85 / 7739
4
 (HPO:0000960) Sacral dimple 29 / 7739
5
 (OMIM) Ductal plate malformation 5 / 7739
6
 (HPO:0002323) Anencephaly rare [HPO:skoehler] 28 / 7739
7
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
8
 (OMIM) Persistent of bile duct remnants 1 / 7739

Associated genes:

B9D2;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Dowdle et al. (2011) reported 2 fetuses with Meckel syndrome who were born in a consanguineous family from Surinam with an Indian-Pakistani background. They were terminated at 17 and 29 weeks' gestation, respectively. Clinical features included occipital encephalocele, ...
Molecular genetics OMIM In 2 fetuses with MKS10, Dowdle et al. (2011) identified a homozygous mutation in the B9D2 gene (S101R; 611951.0001). The proband was from a larger cohort of 96 unrelated MKS patients. Immunoprecipitation studies showed that the mutant S101R ...