SEMDSH
MCID: SPN359
MIFTS: 25
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Spondyloepimetaphyseal Dysplasia, Shohat Type (SEMDSH)
Categories:
Bone diseases, Fetal diseases, Genetic diseases, Liver diseases, Rare diseases
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MalaCards integrated aliases for Spondyloepimetaphyseal Dysplasia, Shohat Type:
Characteristics:Orphanet epidemiological data:59
spondyloepimetaphyseal dysplasia, shohat type
Prevalence: <1/1000000 (Worldwide); OMIM:57
Inheritance:
autosomal recessive
Miscellaneous:
waddling gate tracheal narrowing may result in fatal upper airway obstruction HPO:32Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Bone diseases Liver diseases
ICD10:
34
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NIH Rare Diseases
:
53
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 93352Disease definitionSpondyloepimetaphyseal dysplasia congenita, Shohat type is characterized by severely disproportionate short stature, short limbs, small chest, short neck, thin lips, severe lumbar lordosis, marked genu varum, joint laxity, distended abdomen, mild hepatomegaly and splenomegaly.EpidemiologyThe syndrome has been described in three members of a Jewish family of Iraqi origin and one Mexican boy.Clinical descriptionThe long bone changes in adolescence show general metaphyseal irregularities and significant epiphyseal ossification delay.EtiologyAutosomal recessive inheritance has been suggested, but the causative gene has not yet been identified.Visit the Orphanet disease page for more resources.
MalaCards based summary : Spondyloepimetaphyseal Dysplasia, Shohat Type, also known as semd, shohat type, is related to spondyloepimetaphyseal dysplasia, matrilin-3 related. An important gene associated with Spondyloepimetaphyseal Dysplasia, Shohat Type is DDRGK1 (DDRGK Domain Containing 1). Affiliated tissues include bone and liver, and related phenotypes are short neck and abnormality of epiphysis morphology OMIM : 57 Shohat-type spondyloepimetaphyseal dysplasia (SEMDSH) is a chondrodysplasia characterized by vertebral, epiphyseal, and metaphyseal abnormalities, including scoliosis with vertebral compression fractures, flattened vertebral bodies, and hypomineralization of long bones. Affected individuals may exhibit a small trunk, short neck, small limbs, joint laxity, bowlegs, and/or abdominal distension with hepatosplenomegaly (summary by Egunsola et al., 2017). (602557) UniProtKB/Swiss-Prot : 75 Spondyloepimetaphyseal dysplasia, Shohat type: An autosomal recessive skeletal dysplasia that affects cartilage development. It is characterized by vertebral, epiphyseal, and metaphyseal abnormalities, including scoliosis with vertebral compression fractures, flattened vertebral bodies, and hypomineralization of long bones. Affected individuals may exhibit a small trunk, short neck, small limbs, joint laxity, bowlegs, and/or abdominal distension with hepatosplenomegaly. |
Diseases related to Spondyloepimetaphyseal Dysplasia, Shohat Type via text searches within MalaCards or GeneCards Suite gene sharing:
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Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:602557Human phenotypes related to Spondyloepimetaphyseal Dysplasia, Shohat Type:59 32 (show all 40)
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MalaCards organs/tissues related to Spondyloepimetaphyseal Dysplasia, Shohat Type:41
Bone,
Liver
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Articles related to Spondyloepimetaphyseal Dysplasia, Shohat Type:
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ClinVar genetic disease variations for Spondyloepimetaphyseal Dysplasia, Shohat Type:6
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Search
GEO
for disease gene expression data for Spondyloepimetaphyseal Dysplasia, Shohat Type.
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