Meckel syndrome, type 1

General Information (adopted from Orphanet):

Synonyms, Signs: MECKEL-GRUBER SYNDROME, TYPE 1
DYSENCEPHALIA SPLANCHNOCYSTICA
GRUBER SYNDROME
MECKEL SYNDROME
MECKEL-GRUBER SYNDROME
MES
MKS1
MKS
Number of Symptoms 60
OrphanetNr:
OMIM Id: 249000
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:0000028) Cryptorchidism 347 / 7739
2
 (HPO:0000104) Renal agenesis 68 / 7739
3
 (HPO:0005343) Hypoplasia of the bladder 4 / 7739
4
 (HPO:0000062) Ambiguous genitalia 74 / 7739
5
 (HPO:0003241) External genital hypoplasia 25 / 7739
6
 (HPO:0000130) Abnormality of the uterus 86 / 7739
7
 (HPO:0000113) Polycystic kidney dysplasia 75 / 7739
8
 (HPO:0002085) Occipital encephalocele 20 / 7739
9
 (HPO:0000568) Microphthalmia 183 / 7739
10
 (HPO:0000252) Microcephaly 832 / 7739
11
 (HPO:0000465) Webbed neck 81 / 7739
12
 (HPO:0000695) Natal tooth 42 / 7739
13
 (HPO:0001305) Dandy-Walker malformation 79 / 7739
14
 (HPO:0000316) Hypertelorism 644 / 7739
15
 (HPO:0000347) Micrognathia 426 / 7739
16
 (HPO:0000601) Hypotelorism 83 / 7739
17
 (HPO:0000175) Cleft palate 349 / 7739
18
 (HPO:0000470) Short neck 345 / 7739
19
 (HPO:0000180) Lobulated tongue 8 / 7739
20
 (HPO:0000204) Cleft upper lip 193 / 7739
21
 (HPO:0000154) Wide mouth 137 / 7739
22
 (HPO:0000340) Sloping forehead 86 / 7739
23
 (HPO:0000612) Iris coloboma 116 / 7739
24
 (HPO:0000369) Low-set ears 372 / 7739
25
 (HPO:0000835) Adrenal hypoplasia 23 / 7739
26
 (HPO:0001159) Syndactyly 140 / 7739
27
 (HPO:0100259) Postaxial polydactyly 85 / 7739
28
 (HPO:0006487) Bowing of the long bones 95 / 7739
29
 (HPO:0001883) Talipes 12 / 7739
30
 (HPO:0010442) Polydactyly 69 / 7739
31
 (HPO:0001195) Single umbilical artery 23 / 7739
32
 (HPO:0001562) Oligohydramnios 75 / 7739
33
 (HPO:0001744) Splenomegaly 337 / 7739
34
 (HPO:0002023) Anal atresia 135 / 7739
35
 (HPO:0002566) Intestinal malrotation 89 / 7739
36
 (HPO:0001539) Omphalocele 102 / 7739
37
 (HPO:0001408) Bile duct proliferation 22 / 7739
38
 (HPO:0001746) Asplenia 19 / 7739
39
 (HPO:0001747) Accessory spleen 8 / 7739
40
 (HPO:0001671) Abnormality of the cardiac septa 55 / 7739
41
 (HPO:0001643) Patent ductus arteriosus 228 / 7739
42
 (HPO:0001680) Coarctation of aorta 57 / 7739
43
 (HPO:0002089) Pulmonary hypoplasia 80 / 7739
44
 (HPO:0002323) Anencephaly 28 / 7739
45
 (OMIM) Elevated amniotic alpha-fetoprotein in affected fetuses with encephalocele 1 / 7739
46
 (HPO:0006872) Cerebral hypoplasia 7 / 7739
47
 (OMIM) 'Potter-like' facies 2 / 7739
48
 (OMIM) Variable prenatal growth deficiency 1 / 7739
49
 (OMIM) Optic tract agenesis 1 / 7739
50
 (OMIM) Duplicated ureter 2 / 7739
51
 (HPO:0002308) Arnold-Chiari malformation 42 / 7739
52
 (OMIM) Bile duct dilatation 2 / 7739
53
 (HPO:0000238) Hydrocephalus 278 / 7739
54
 (OMIM) Separated vagina 1 / 7739
55
 (HPO:0001321) Cerebellar hypoplasia 114 / 7739
56
 (MedDRA:10058668) Clinodactyly 91 / 7739
57
 (HPO:0001274) Agenesis of corpus callosum 142 / 7739
58
 (OMIM) Prenatal diagnosis by ultrasound 5 / 7739
59
 (OMIM) Cleft epiglottis 1 / 7739
60
 (HPO:0001341) Olfactory lobe agenesis 5 / 7739

Associated genes:

MKS1;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Meckel syndrome, also known as Meckel-Gruber syndrome, is a severe pleiotropic autosomal recessive developmental disorder caused by dysfunction of primary cilia during early embryogenesis. There is extensive clinical variability and controversy as to the minimum diagnostic criteria. Early ...
Clinical Description OMIM A great variety of malformations have been observed in Meckel syndrome. A frequent and particularly memorable combination is sloping forehead, posterior encephalocele, polydactyly, and polycystic kidneys. Fraser and Lytwyn (1981) concluded that cystic dysplasia of the kidneys is ...
Molecular genetics OMIM Kyttala et al. (2006) identified a gene, which they designated MKS1 (609883), that was mutated in Meckel syndrome families linked to 17q. Expression of the Mks1 gene in mouse embryos, as determined by in situ hybridization, agreed well ...
Population genetics OMIM In Finland, Salonen and Norio (1984) found that Meckel syndrome has a birth prevalence of 1:9,000 and a disease gene frequency of 0.01, which is of the same order of magnitude as that of the most common recessive ...