Details of Disease | DrugMAP

General Information of Disease (ID: DISJY5E9)

Disease Name	Acromesomelic dysplasia 4
Synonyms	AMD4
Disease Hierarchy	DISR3TMZ: Acromesomelic dysplasia DISJY5E9: Acromesomelic dysplasia 4
Disease Identifiers	MONDO ID MONDO_0030553 UMLS CUI C5562028 OMIM ID 619636 MedGen ID 1794238

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
PRKG2	TTDWFCQ	Strong	Autosomal recessive	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
PRKG2	OTKJSIKC	Strong	Autosomal recessive	[1]
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References

1	Biallelic cGMP-dependent type II protein kinase gene (PRKG2) variants cause a novel acromesomelic dysplasia. J Med Genet. 2022 Jan;59(1):28-38. doi: 10.1136/jmedgenet-2020-107177. Epub 2020 Oct 26.