MKS12
MCID: MCK026
MIFTS: 24
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Meckel Syndrome 12 (MKS12)
Categories:
Bone diseases, Endocrine diseases, Eye diseases, Fetal diseases, Genetic diseases, Liver diseases, Nephrological diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Meckel Syndrome 12:
Characteristics:Orphanet epidemiological data:58
lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal; Age of death: embryofetal; OMIM®:57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive
Miscellaneous:
two fetuses from terminated pregnancies in 1 family have been reported (last curated march 2015) HPO:31Classifications:
MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases Anatomical: Neuronal diseases Nephrological diseases Eye diseases Liver diseases Bone diseases Endocrine diseases
Orphanet: 58
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UniProtKB/Swiss-Prot :
73
Meckel syndrome 12: A form of Meckel syndrome, a disorder characterized by a combination of renal cysts and variably associated features including developmental anomalies of the central nervous system (typically encephalocele), hepatic ductal dysplasia and cysts, and polydactyly.
MalaCards based summary : Meckel Syndrome 12, is also known as mks12. An important gene associated with Meckel Syndrome 12 is KIF14 (Kinesin Family Member 14). Affiliated tissues include brain, and related phenotypes are wide nasal bridge and anteverted nares |
Human phenotypes related to Meckel Syndrome 12:31 (show all 18)
Symptoms via clinical synopsis from OMIM®:57 (Updated 05-Mar-2021)Clinical features from OMIM®:616258 (Updated 05-Mar-2021) |
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MalaCards organs/tissues related to Meckel Syndrome 12:40
Brain
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Articles related to Meckel Syndrome 12:
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ClinVar genetic disease variations for Meckel Syndrome 12:6
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Search
GEO
for disease gene expression data for Meckel Syndrome 12.
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