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SEMDK
MCID: SPN425
MIFTS: 17
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Spondyloepimetaphyseal Dysplasia, Krakow Type (SEMDK)
Categories:
Bone diseases, Genetic diseases, Immune diseases
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MalaCards integrated aliases for Spondyloepimetaphyseal Dysplasia, Krakow Type:Characteristics:OMIM:58
Inheritance:
autosomal recessive
Miscellaneous:
based on report of 2 sibs (last curated october 2018) patients were wheelchair bound and never walked one sib died at age 10 years of epstein-barr virus-induced small-muscle cancer Classifications: |
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UniProtKB/Swiss-Prot
:
76
Spondyloepimetaphyseal dysplasia, Krakow type: An autosomal recessive skeletal disorder characterized by severe spondyloepimetaphyseal dysplasia, rhizomelia, mesomelia with significant anterior bowing of all limbs, severe immunodeficiency, and developmental delay.
MalaCards based summary : Spondyloepimetaphyseal Dysplasia, Krakow Type, is also known as immunoosseous dysplasia, krakow type. An important gene associated with Spondyloepimetaphyseal Dysplasia, Krakow Type is SIK3 (SIK Family Kinase 3). Affiliated tissues include bone, t cells and colon. OMIM : 58 Krakow-type spondyloepimetaphyseal dysplasia is characterized by severe skeletal dysplasia, severe immunodeficiency, and developmental delay (Csukasi et al., 2018). (618162) |
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Symptoms via clinical synopsis from OMIM:58Clinical features from OMIM:618162 |
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MalaCards organs/tissues related to Spondyloepimetaphyseal Dysplasia, Krakow Type:42
Bone,
T Cells,
Colon,
Pancreas
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ClinVar genetic disease variations for Spondyloepimetaphyseal Dysplasia, Krakow Type:6
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Search
GEO
for disease gene expression data for Spondyloepimetaphyseal Dysplasia, Krakow Type.
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