General Information of Disease (ID: DISA2X25)

Disease Name Acroosteolysis-keloid-like lesions-premature aging syndrome
Synonyms
Penttinen-aula syndrome; premature aging syndrome Penttinen type; progeroid syndrome, Penttinen type; prematurely aged appearance, delayed bone maturation, acro-osteolysis, and brachydactyly; PENTT; premature ageing syndrome Penttinen type; premature ageing syndrome, Penttinen type; premature aging syndrome, Penttinen type
Disease Hierarchy
DISYKSRF: Genetic disease
DIS51AGT: Premature aging syndrome
DISA2X25: Acroosteolysis-keloid-like lesions-premature aging syndrome
Disease Identifiers
MONDO ID
MONDO_0011150
MESH ID
C536653
UMLS CUI
C1866182
OMIM ID
601812
MedGen ID
400936
Orphanet ID
363665
SNOMED CT ID
776417008

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 Biomarker [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 A Point Mutation in PDGFRB Causes Autosomal-Dominant Penttinen Syndrome. Am J Hum Genet. 2015 Sep 3;97(3):465-74. doi: 10.1016/j.ajhg.2015.07.009. Epub 2015 Aug 13.