Schwartz-jampel syndrome

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Pathways column key: KEGG Reactome
Disease Term Disease ID Gene Symbol Classification References Source Pathways
SCHWARTZ-JAMPEL SYNDROME
800C0036391MONDO:0009717
HSPG2 Causal
19367640
Disgenet, GenCC, Orphanet
SCHWARTZ-JAMPEL SYNDROME TYPE 1
MONDO:0100435
HSPG2 Causal
11101850 11941538
ClinGen, ClinVar, HPO
All3 Causal1 Unknown3
Related Diseases Diseases that share the most curated genes with Schwartz-jampel syndrome.
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Dyssegmental dysplasia 2 shared genesHSPG2, LDLRAD2 Related via 2 shared genes including HSPG2, LDLRAD2. Silverman-Handmaker type dyssegmental dysplasia 1 shared geneHSPG2 Related via 1 shared gene including HSPG2. Congenital hemangioma 1 shared geneGNA11 Related via 1 shared gene including GNA11. Cutis marmorata telangiectatica congenita 1 shared geneGNA11 Related via 1 shared gene including GNA11. Anastomosing haemangioma 1 shared geneGNA11 Related via 1 shared gene including GNA11.