Meckel syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: Meckel-Gruber syndrome
Number of Symptoms 95
OrphanetNr: 564
OMIM Id: 249000
603194
607361
611134
611561
612284
613885
614175
614209
615397
ICD-10: Q61.9
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 0.2 [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Antenatal
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Cerebral disease with cataract
 -Rare eye disease
 -Rare genetic disease
Familial cystic renal disease
 -Rare genetic disease
 -Rare renal disease
Genetic multiple congenital anomalies/dysmorphic syndrome
 -Rare genetic disease
Genetic syndrome with a central nervous system malformation as major feature
 -Rare genetic disease
Lens shape anomaly
 -Rare eye disease
 -Rare genetic disease
Multiple congenital anomalies/dysmorphic syndrome
 -Rare developmental defect during embryogenesis
Orofacial clefting syndrome
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare maxillo-facial surgical disease
 -Rare otorhinolaryngologic disease
Other syndrome with a central nervous system malformation as major feature
 -Rare developmental defect during embryogenesis
 -Rare neurologic disease
Rare disease with glaucoma as a major feature
 -Rare eye disease
 -Rare genetic disease
Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy
 -Rare bone disease
 -Rare developmental defect during embryogenesis
Syndromic developmental defect of the eye
 -Rare developmental defect during embryogenesis
 -Rare eye disease
 -Rare genetic disease
Syndromic renal or urinary tract malformation
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare renal disease
Syndromic visceral malformation
 -Rare abdominal surgical disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000113) Polycystic kidney dysplasia 75 / 7739
2
 (HPO:0010459) True hermaphroditism Occasional [Orphanet] 5 / 7739
3
 (HPO:0000795) Abnormality of the urethra Occasional [Orphanet] 38 / 7739
4
 (HPO:0000028) Cryptorchidism 347 / 7739
5
 (HPO:0000069) Abnormality of the ureter 47 / 7739
6
 (HPO:0000037) Male pseudohermaphroditism Occasional [Orphanet] 25 / 7739
7
 (HPO:0000033) Ambiguous genitalia, male 9 / 7739
8
 (HPO:0003241) External genital hypoplasia 25 / 7739
9
 (HPO:0000062) Ambiguous genitalia Frequent [Orphanet] 74 / 7739
10
 (HPO:0005343) Hypoplasia of the bladder 4 / 7739
11
 (HPO:0000061) Ambiguous genitalia, female 8 / 7739
12
 (HPO:0000107) Renal cyst Very frequent [Orphanet] 126 / 7739
13
 (HPO:0000072) Hydroureter Occasional [Orphanet] 146 / 7739
14
 (HPO:0000104) Renal agenesis 68 / 7739
15
 (HPO:0000130) Abnormality of the uterus 86 / 7739
16
 (HPO:0000035) Abnormality of the testis Frequent [Orphanet] 296 / 7739
17
 (HPO:0001305) Dandy-Walker malformation Occasional [Orphanet] 79 / 7739
18
 (HPO:0000347) Micrognathia 426 / 7739
19
 (HPO:0000180) Lobulated tongue 8 / 7739
20
 (HPO:0000221) Furrowed tongue Occasional [Orphanet] 24 / 7739
21
 (HPO:0000465) Webbed neck 81 / 7739
22
 (HPO:0000252) Microcephaly Very frequent [Orphanet] 832 / 7739
23
 (HPO:0000171) Microglossia Occasional [Orphanet] 27 / 7739
24
 (HPO:0000277) Abnormality of the mandible Frequent [Orphanet] 394 / 7739
25
 (HPO:0000470) Short neck 345 / 7739
26
 (HPO:0000154) Wide mouth 137 / 7739
27
 (HPO:0000340) Sloping forehead Frequent [Orphanet] 86 / 7739
28
 (HPO:0002085) Occipital encephalocele 20 / 7739
29
 (HPO:0000457) Depressed nasal ridge Frequent [Orphanet] 85 / 7739
30
 (HPO:0002084) Encephalocele Very frequent [Orphanet] 70 / 7739
31
 (HPO:0000601) Hypotelorism 83 / 7739
32
 (HPO:0000316) Hypertelorism Frequent [Orphanet] 644 / 7739
33
 (HPO:0000174) Abnormality of the palate Frequent [Orphanet] 298 / 7739
34
 (HPO:0000204) Cleft upper lip 193 / 7739
35
 (HPO:0000568) Microphthalmia 183 / 7739
36
 (HPO:0000293) Full cheeks Frequent [Orphanet] 85 / 7739
37
 (HPO:0000175) Cleft palate 349 / 7739
38
 (HPO:0000695) Natal tooth 42 / 7739
39
 (HPO:0000612) Iris coloboma 116 / 7739
40
 (HPO:0000518) Cataract Frequent [Orphanet] 454 / 7739
41
 (HPO:0000479) Abnormality of the retina Frequent [Orphanet] 74 / 7739
42
 (HPO:0008053) Aplasia/Hypoplasia of the iris Frequent [Orphanet] 38 / 7739
43
 (HPO:0000482) Microcornea Frequent [Orphanet] 102 / 7739
44
 (HPO:0008056) Aplasia/Hypoplasia affecting the eye Frequent [Orphanet] 142 / 7739
45
 (HPO:0000647) Sclerocornea Frequent [Orphanet] 25 / 7739
46
 (HPO:0000369) Low-set ears 372 / 7739
47
 (HPO:0000357) Abnormal location of ears Frequent [Orphanet] 328 / 7739
48
 (HPO:0000835) Adrenal hypoplasia 23 / 7739
49
 (HPO:0001883) Talipes 12 / 7739
50
 (HPO:0006487) Bowing of the long bones Occasional [Orphanet] 95 / 7739
51
 (HPO:0009466) Radial deviation of finger 101 / 7739
52
 (HPO:0001762) Talipes equinovarus Frequent [Orphanet] 309 / 7739
53
 (HPO:0001829) Foot polydactyly 41 / 7739
54
 (HPO:0001830) Postaxial foot polydactyly Very frequent [Orphanet] 37 / 7739
55
 (HPO:0001162) Postaxial hand polydactyly Very frequent [Orphanet] 119 / 7739
56
 (HPO:0001159) Syndactyly 140 / 7739
57
 (HPO:0001177) Preaxial hand polydactyly Occasional [Orphanet] 59 / 7739
58
 (HPO:0006267) Large placenta 3 / 7739
59
 (HPO:0001195) Single umbilical artery 23 / 7739
60
 (HPO:0001623) Breech presentation 16 / 7739
61
 (HPO:0001562) Oligohydramnios Frequent [Orphanet] 75 / 7739
62
 (HPO:0001744) Splenomegaly 337 / 7739
63
 (HPO:0006706) Cystic liver disease Occasional [Orphanet] 8 / 7739
64
 (HPO:0002612) Congenital hepatic fibrosis Very frequent [Orphanet] 16 / 7739
65
 (HPO:0001539) Omphalocele 102 / 7739
66
 (HPO:0002023) Anal atresia 135 / 7739
67
 (HPO:0001746) Asplenia 19 / 7739
68
 (HPO:0001737) Pancreatic cysts Occasional [Orphanet] 15 / 7739
69
 (HPO:0100732) Pancreatic fibrosis Occasional [Orphanet] 12 / 7739
70
 (HPO:0002566) Intestinal malrotation 89 / 7739
71
 (HPO:0001743) Abnormality of the spleen Occasional [Orphanet] 37 / 7739
72
 (HPO:0001747) Accessory spleen 8 / 7739
73
 (HPO:0001408) Bile duct proliferation 22 / 7739
74
 (HPO:0001511) Intrauterine growth retardation 358 / 7739
75
 (HPO:0030680) Abnormality of cardiovascular system morphology Occasional [Orphanet] 355 / 7739
76
 (HPO:0001671) Abnormality of the cardiac septa 55 / 7739
77
 (HPO:0001680) Coarctation of aorta 57 / 7739
78
 (HPO:0001651) Dextrocardia Occasional [Orphanet] 38 / 7739
79
 (HPO:0001643) Patent ductus arteriosus 228 / 7739
80
 (HPO:0004639) Elevated amniotic fluid alpha-fetoprotein 2 / 7739
81
 (HPO:0002089) Pulmonary hypoplasia 80 / 7739
82
 (HPO:0001600) Abnormality of the larynx 15 / 7739
83
 (HPO:0012443) Abnormality of brain morphology Frequent [Orphanet] 45 / 7739
84
 (HPO:0002323) Anencephaly Occasional [Orphanet] 28 / 7739
85
 (HPO:0000238) Hydrocephalus Occasional [Orphanet] 278 / 7739
86
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
87
 (HPO:0001321) Cerebellar hypoplasia 114 / 7739
88
 (HPO:0001341) Olfactory lobe agenesis 5 / 7739
89
 (HPO:0006872) Cerebral hypoplasia 7 / 7739
90
 (HPO:0007370) Aplasia/Hypoplasia of the corpus callosum Occasional [Orphanet] 180 / 7739
91
 (HPO:0001274) Agenesis of corpus callosum 142 / 7739
92
 (HPO:0011420) Death Very frequent [Orphanet] 184 / 7739
93
 (HPO:0030084) Clinodactyly 90 / 7739
94
 (HPO:0002308) Arnold-Chiari malformation 42 / 7739
95
 (HPO:0012795) Abnormality of the optic disc Frequent [Orphanet] 187 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: