Details of Disease | DrugMAP

General Information of Disease (ID: DISR9P09)

Disease Name	RAB23-related Carpenter syndrome
Synonyms	CRPT1; CARPENTER syndrome 1; Carpenter syndrome; acrocephalopolysyndactyly type 2; ACPS 2; Carpenter syndrome type 1; RAB23 Carpenter syndrome; Carpenter syndrome 1; RAB23-related Carpenter syndrome; Carpenter syndrome caused by mutation in RAB23
Definition	Any Carpenter syndrome in which the cause of the disease is a mutation in the RAB23 gene.
Disease Hierarchy	DISU690E: Carpenter syndrome DISR9P09: RAB23-related Carpenter syndrome
Disease Identifiers	MONDO ID MONDO_0008710 UMLS CUI C4551510 OMIM ID 201000 MedGen ID 1644017

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
MEGF8	OT5G38CH	Definitive	Autosomal recessive	[1]
RAB23	OTBAKFBR	Definitive	Autosomal recessive	[2]
------------------------------------------------------------------------------------

References

1	Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP. Nat Commun. 2019 May 30;10(1):2373. doi: 10.1038/s41467-019-10016-3.
2	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.