Details of Disease | DrugMAP

General Information of Disease (ID: DISX2MMO)

Disease Name	Smith-McCort dysplasia 2
Synonyms	SMITH-McCort dysplasia 2; Smc2; Smith-McCort dysplasia caused by mutation in RAB33B; Smith-McCort dysplasia 2; RAB33B Smith-McCort dysplasia; Smith-McCort dysplasia type 2
Definition	Any Smith-McCort dysplasia in which the cause of the disease is a mutation in the RAB33B gene.
Disease Hierarchy	DIS18P12: Smith-McCort dysplasia DISX2MMO: Smith-McCort dysplasia 2
Disease Identifiers	MONDO ID MONDO_0014087 UMLS CUI C3714896 OMIM ID 615222 MedGen ID 811489

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
RAB33B	OTPZ3EJL	Strong	Autosomal recessive	[1]
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References

1	Mutation in RAB33B, which encodes a regulator of retrograde Golgi transport, defines a second Dyggve--Melchior--Clausen locus. J Med Genet. 2012 Jul;49(7):455-61. doi: 10.1136/jmedgenet-2011-100666. Epub 2012 May 31.