JDSCD
MCID: MLT162
MIFTS: 42
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Multiple Joint Dislocations, Short Stature, and Craniofacial Dysmorphism with or Without Congenital Heart Defects (JDSCD)
Categories:
Bone diseases, Cardiovascular diseases, Fetal diseases, Genetic diseases, Metabolic diseases, Rare diseases
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Aliases & Classifications for Multiple Joint Dislocations, Short Stature, and Craniofacial...
MalaCards integrated aliases for Multiple Joint Dislocations, Short Stature, and Craniofacial Dysmorphism with or Without Congenital Heart Defects:
Name: Multiple Joint Dislocations, Short Stature, and Craniofacial Dysmorphism with or Without Congenital Heart Defects
56
73
Characteristics:Orphanet epidemiological data:58
larsen-like syndrome, b3gat3 type
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal; HPO:31
multiple joint dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defects:
Inheritance autosomal recessive inheritance Classifications:
MalaCards categories:
Global: Genetic diseases Metabolic diseases Fetal diseases Rare diseases Anatomical: Cardiovascular diseases Bone diseases
ICD10:
33
Orphanet: 58
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KEGG :
36
Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects (JDSSDHD), also termed Larsen-like syndrome, is an autosomal recessive disease that is caused by the mutations in the B3GAT3. B3GAT3 encodes key enzyme involving in glycosaminoglycan biosynthses. The mutation results in decreased levels of dermatan sulfate, chondroitin sulfate, and heparan sulfate proteoglycans. The affected individuals showed dysmorphic faces, bilateral dislocations of the elbows, hips, and knees, and short stature, as well as cardiovascular defects.
MalaCards based summary : Multiple Joint Dislocations, Short Stature, and Craniofacial Dysmorphism with or Without Congenital Heart Defects, also known as multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects, is related to larsen-like syndrome b3gat3 type and larsen syndrome. An important gene associated with Multiple Joint Dislocations, Short Stature, and Craniofacial Dysmorphism with or Without Congenital Heart Defects is B3GAT3 (Beta-1,3-Glucuronyltransferase 3), and among its related pathways/superpathways are Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate and Glycosaminoglycan biosynthesis - heparan sulfate / heparin. Affiliated tissues include heart, bone and skin, and related phenotypes are delayed skeletal maturation and inguinal hernia UniProtKB/Swiss-Prot : 73 Multiple joint dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defects: An autosomal recessive disease characterized by dysmorphic facies, bilateral dislocations of the elbows, hips, and knees, clubfeet, and short stature, as well as cardiovascular defects.
More information from OMIM:
245600
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Human phenotypes related to Multiple Joint Dislocations, Short Stature, and Craniofacial Dysmorphism with or Without Congenital Heart Defects:31 (show top 50) (show all 71)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:245600GenomeRNAi Phenotypes related to Multiple Joint Dislocations, Short Stature, and Craniofacial Dysmorphism with or Without Congenital Heart Defects according to GeneCards Suite gene sharing:26 (show all 11)
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MalaCards organs/tissues related to Multiple Joint Dislocations, Short Stature, and Craniofacial Dysmorphism with or Without Congenital Heart Defects:40
Heart,
Bone,
Skin,
Eye,
Lung
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Articles related to Multiple Joint Dislocations, Short Stature, and Craniofacial Dysmorphism with or Without Congenital Heart Defects:(show all 12)
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ClinVar genetic disease variations for Multiple Joint Dislocations, Short Stature, and Craniofacial Dysmorphism with or Without Congenital Heart Defects:6 (show all 20)
UniProtKB/Swiss-Prot genetic disease variations for Multiple Joint Dislocations, Short Stature, and Craniofacial Dysmorphism with or Without Congenital Heart Defects:73
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Search
GEO
for disease gene expression data for Multiple Joint Dislocations, Short Stature, and Craniofacial Dysmorphism with or Without Congenital Heart Defects.
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Pathways related to Multiple Joint Dislocations, Short Stature, and Craniofacial Dysmorphism with or Without Congenital Heart Defects according to KEGG:36
Pathways related to Multiple Joint Dislocations, Short Stature, and Craniofacial Dysmorphism with or Without Congenital Heart Defects according to GeneCards Suite gene sharing:
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Cellular components related to Multiple Joint Dislocations, Short Stature, and Craniofacial Dysmorphism with or Without Congenital Heart Defects according to GeneCards Suite gene sharing:
Biological processes related to Multiple Joint Dislocations, Short Stature, and Craniofacial Dysmorphism with or Without Congenital Heart Defects according to GeneCards Suite gene sharing:
Molecular functions related to Multiple Joint Dislocations, Short Stature, and Craniofacial Dysmorphism with or Without Congenital Heart Defects according to GeneCards Suite gene sharing:
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