Details of Disease

General Information of Disease (ID: DIS87WLW)

Disease Name Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome
Synonyms skeletal overgrowth with Facial Dysmorphism, hyperelastic skin, White matter lesions, and neurologic deterioration; KOGS; Kosaki overgrowth syndrome
Disease Hierarchy
DIS5Z8U6: Skeletal dysplasia
DIS87WLW: Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome
Disease Identifiers
MONDO ID
MONDO_0014704
UMLS CUI
C4225270
OMIM ID
616592
MedGen ID
896409
Orphanet ID
477831
SNOMED CT ID
1172898008

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
PDGFRB TTI7421 Strong Genetic Variation [1]
PDGFRB TTI7421 Definitive Autosomal dominant [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
PDGFRB OTYSNK9Q Definitive Autosomal dominant [2]
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References

1 Kosaki overgrowth syndrome: A newly identified entity caused by pathogenic variants in platelet-derived growth factor receptor-beta.Am J Med Genet C Semin Med Genet. 2019 Dec;181(4):650-657. doi: 10.1002/ajmg.c.31755. Epub 2019 Nov 11.
2 Constitutive activation of the PI3K-AKT pathway and cardiovascular abnormalities in an individual with Kosaki overgrowth syndrome. Am J Med Genet A. 2019 Jun;179(6):1047-1052. doi: 10.1002/ajmg.a.61145. Epub 2019 Apr 2.