Details of Disease | DrugMAP

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.