SEMDK
MCID: SPN425
MIFTS: 24
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Spondyloepimetaphyseal Dysplasia, Krakow Type (SEMDK)
Categories:
Bone diseases, Genetic diseases, Immune diseases, Mental diseases
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MalaCards integrated aliases for Spondyloepimetaphyseal Dysplasia, Krakow Type:Characteristics:Inheritance:
Autosomal recessive 57
OMIM®:57 (Updated 08-Dec-2022)
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:
MalaCards categories:
Global: Genetic diseases Anatomical: Bone diseases Immune diseases Mental diseases |
UniProtKB/Swiss-Prot: 73 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 pancreas, colon and bone, and related phenotypes are seizure and frontal bossing OMIM®: 57 Krakow-type spondyloepimetaphyseal dysplasia is characterized by severe skeletal dysplasia, severe immunodeficiency, and developmental delay (Csukasi et al., 2018). (618162) (Updated 08-Dec-2022) |
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Human phenotypes related to Spondyloepimetaphyseal Dysplasia, Krakow Type:30 (show all 28)
Symptoms via clinical synopsis from OMIM®:57 (Updated 08-Dec-2022)Clinical features from OMIM®:618162 (Updated 08-Dec-2022) |
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Organs/tissues related to Spondyloepimetaphyseal Dysplasia, Krakow Type:
MalaCards :
Pancreas,
Colon,
Bone
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Articles related to Spondyloepimetaphyseal Dysplasia, Krakow Type:
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ClinVar genetic disease variations for Spondyloepimetaphyseal Dysplasia, Krakow Type:5
UniProtKB/Swiss-Prot genetic disease variations for Spondyloepimetaphyseal Dysplasia, Krakow Type:73
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Search
GEO
for disease gene expression data for Spondyloepimetaphyseal Dysplasia, Krakow Type.
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