Meckel syndrome, type 5

General Information (adopted from Orphanet):

Synonyms, Signs: MKS5
Number of Symptoms 14
OrphanetNr:
OMIM Id: 611561
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:0000079) Abnormality of the urinary system 88 / 7739
2
 (HPO:0002085) Occipital encephalocele 20 / 7739
3
 (HPO:0000204) Cleft upper lip 193 / 7739
4
 (HPO:0000175) Cleft palate 349 / 7739
5
 (HPO:0000568) Microphthalmia 183 / 7739
6
 (HPO:0001162) Postaxial hand polydactyly 119 / 7739
7
 (HPO:0001830) Postaxial foot polydactyly 37 / 7739
8
 (HPO:0100259) Postaxial polydactyly 85 / 7739
9
 (HPO:0006487) Bowing of the long bones 95 / 7739
10
 (HPO:0001408) Bile duct proliferation 22 / 7739
11
 (HPO:0002323) Anencephaly 28 / 7739
12
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
13
 (OMIM) Cystic renal disease 1 / 7739
14
 (HPO:0001425) Heterogeneous 132 / 7739

Associated genes:

RPGRIP1L;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Delous et al. (2007) reported 3 fetuses with Meckel syndrome diagnosed at 15 to 16 weeks' gestation by ultrasound. Two were sibs of Moroccan origin. Ultrasound and post-termination examination showed anencephaly, occipital encephalocele, postaxial polydactyly, cleft lip and ...
Molecular genetics OMIM In 3 fetuses with Meckel syndrome type 5, Delous et al. (2007) identified homozygous or compound heterozygous truncating mutations in the RPGRIP1L gene (610937.0005-610937.0007) that all resulted in complete loss of protein function.