Meckel syndrome, type 2

General Information (adopted from Orphanet):

Synonyms, Signs: MKS2
Meckel-Gruber syndrome, type 2
Number of Symptoms 17
OrphanetNr:
OMIM Id: 603194
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
20512146 [IBIS]
Age of onset: Antenatal
20512146 [IBIS]

Disease classification (adopted from Orphanet):

Parent Diseases: Meckel syndrome
 -Rare abdominal surgical disease
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare eye disease
 -Rare genetic disease
 -Rare maxillo-facial surgical disease
 -Rare neurologic disease
 -Rare otorhinolaryngologic disease
 -Rare renal disease

Comment:

Joubert syndrome (JBTS), related disorders (JSRDs) and Meckel syndrome (MKS) are ciliopathies. MKS2 and CORS2 (JBTS2) loci are allelic and caused by mutations in TMEM216, which encodes an uncharacterized tetraspan transmembrane protein (PMID:20512146).

Symptom Information: Sort by abundance 

1
 (HPO:0003826) Stillbirth 20512146 IBIS 40 / 7739
2
 (HPO:0001539) Omphalocele 20512146 IBIS 102 / 7739
3
 (HPO:0000476) Cystic hygroma 20512146 IBIS 22 / 7739
4
 (HPO:0002566) Intestinal malrotation 20512146 IBIS 89 / 7739
5
 (HPO:0001629) Ventricular septal defect 20512146 IBIS 316 / 7739
6
 (HPO:0000107) Renal cyst 20512146 IBIS 126 / 7739
7
 (HPO:0000568) Microphthalmia rare [HPO:skoehler] 20512146 IBIS 183 / 7739
8
 (HPO:0002084) Encephalocele 20512146 IBIS 70 / 7739
9
 (HPO:0001305) Dandy-Walker malformation rare [HPO:skoehler] 20512146 IBIS 79 / 7739
10
 (HPO:0002323) Anencephaly 20512146 IBIS 28 / 7739
11
 (HPO:0000175) Cleft palate 20512146 IBIS 349 / 7739
12
 (HPO:0006487) Bowing of the long bones 20512146 IBIS 95 / 7739
13
 (HPO:0001162) Postaxial hand polydactyly 119 / 7739
14
 (HPO:0002435) Meningocele 20512146 IBIS 23 / 7739
15
 (HPO:0010442) Polydactyly 20512146 IBIS 69 / 7739
16
 (HPO:0001408) Bile duct proliferation 20512146 IBIS 22 / 7739
17
 (HPO:0001511) Intrauterine growth retardation 20512146 IBIS 358 / 7739

Associated genes:

TMEM216;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Meckel syndrome is a rare autosomal recessive lethal condition characterized by an occipital meningoencephalocele, enlarged kidneys with multicystic dysplasia and fibrotic changes in the portal area of the liver and with ductal proliferation, and postaxial polydactyly. For a ...
Clinical Description OMIM Valente et al. (2010) reported 3 fetuses from 2 Tunisian families with Meckel syndrome-2. Common clinical features included cystic kidneys, polydactyly, bile duct proliferation, and bowing of the long bones. Two had meningocele, 1 had anencephaly, and 2 ...
Molecular genetics OMIM In 3 fetuses from 2 Tunisian families with Meckel syndrome-2, Valente et al. (2010) identified a homozygous 341T-G mutation in the TMEM216 gene (L114R; 613277.0003). Haplotype analysis indicated a common founder for the 2 families. Six affected fetuses ...