Meckel syndrome, type 6

General Information (adopted from Orphanet):

Synonyms, Signs: MKS6
Number of Symptoms 13
OrphanetNr:
OMIM Id: 612284
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0000812) Abnormal internal genitalia rare [HPO:skoehler] 5 / 7739
2
 (HPO:0000107) Renal cyst obligate [HPO:skoehler] 126 / 7739
3
 (HPO:0002085) Occipital encephalocele obligate [HPO:skoehler] 20 / 7739
4
 (HPO:0000175) Cleft palate rare [HPO:skoehler] 349 / 7739
5
 (HPO:0000204) Cleft upper lip rare [HPO:skoehler] 193 / 7739
6
 (HPO:0001762) Talipes equinovarus hallmark [HPO:skoehler] 309 / 7739
7
 (HPO:0001162) Postaxial hand polydactyly 119 / 7739
8
 (HPO:0001395) Hepatic fibrosis 67 / 7739
9
 (HPO:0006706) Cystic liver disease hallmark [HPO:skoehler] 8 / 7739
10
 (HPO:0001408) Bile duct proliferation 22 / 7739
11
 (HPO:0002089) Pulmonary hypoplasia 80 / 7739
12
 (HPO:0000238) Hydrocephalus rare [HPO:skoehler] 278 / 7739
13
 (HPO:0002323) Anencephaly rare [HPO:skoehler] 28 / 7739

Associated genes:

CC2D2A;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Tallila et al. (2008) reported the clinical features of probands from 11 Finnish families with Meckel syndrome. All fetuses had occipital encephalocele and large cystic kidneys. Most also had polydactyly of the hands and feet, clubfeet, fibrotic or ...
Molecular genetics OMIM Tallila et al. (2008) selected the CC2D2A gene as a candidate for Meckel syndrome on chromosome 4p15 by searching a ciliary proteome database. Genetic analysis identified a homozygous nonsense mutation in this gene (612013.0002) in affected fetuses from ...