Statements (53)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
autosomal recessive disease |
| gptkbp:affects |
central nervous system
liver limbs kidneys |
| gptkbp:alsoKnownAs |
Meckel–Gruber syndrome
|
| gptkbp:category |
genetic disorder
ciliopathy multisystem disorder |
| gptkbp:diagnosedBy |
genetic testing
prenatal ultrasound |
| gptkbp:firstDescribed |
1822
Johann Friedrich Meckel |
| gptkbp:frequency |
rare
|
| gptkbp:hasNoCure |
true
|
| https://www.w3.org/2000/01/rdf-schema#label |
Meckel syndrome
|
| gptkbp:ICD-10_code |
Q61.8
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:mortalityRate |
usually perinatal
|
| gptkbp:mutationAssociatedWith |
gptkb:CEP290_gene
B9D1 gene B9D2 gene CC2D2A gene MKS1 gene MKS10 gene MKS11 gene MKS12 gene MKS3 gene MKS6 gene MKS9 gene RPGRIP1L gene TCTN1 gene TCTN2 gene TCTN3 gene TMEM138 gene TMEM216 gene TMEM231 gene TMEM237 gene TMEM67 gene |
| gptkbp:OMIM |
249000
|
| gptkbp:symptom |
polydactyly
microcephaly cleft lip cleft palate central nervous system malformations hepatic fibrosis occipital encephalocele renal cystic dysplasia |
| gptkbp:treatment |
supportive care
|
| gptkbp:bfsParent |
gptkb:CEP290
gptkb:CEP290_gene |
| gptkbp:bfsLayer |
7
|