SEMDFA
MCID: SPN368
MIFTS: 27
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Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type (SEMDFA)
Categories:
Bone diseases, Fetal diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type:
Characteristics:Orphanet epidemiological data:58
progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; HPO:31Classifications:
MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases Anatomical: Neuronal diseases Bone diseases Mental diseases
Orphanet: 58
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UniProtKB/Swiss-Prot :
73
Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type: An autosomal recessive skeletal disorder characterized by spondyloepimetaphyseal dysplasia, short stature, facial dysmorphism, short fourth metatarsals, and intellectual disability.
MalaCards based summary : Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type, also known as spondyloepimetaphyseal dysplasia, progressive, with short stature, facial dysmorphism, short fourth metatarsals, and mental retardation, with or without craniosynostosis, is related to coxa vara and spondyloepimetaphyseal dysplasia, matrilin-3 related. An important gene associated with Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type is RSPRY1 (Ring Finger And SPRY Domain Containing 1). Affiliated tissues include bone, and related phenotypes are delayed skeletal maturation and depressed nasal bridge
More information from OMIM:
616723
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Diseases related to Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type via text searches within MalaCards or GeneCards Suite gene sharing:
Graphical network of the top 20 diseases related to Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type:![]() |
Human phenotypes related to Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type:58 31 (show top 50) (show all 78)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:616723 |
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MalaCards organs/tissues related to Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type:40
Bone
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Articles related to Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type:
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ClinVar genetic disease variations for Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type:6
UniProtKB/Swiss-Prot genetic disease variations for Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type:73
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Search
GEO
for disease gene expression data for Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type.
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