Details of Disease | DrugMAP

General Information of Disease (ID: DISPXQ3Q)

Disease Name	Huppke-Brendel syndrome
Synonyms	CCHLND; congenital cataract-deafness-severe developmental delay syndrome; Huppke-Brendel syndrome; congenital cataracts, hearing loss, and neurodegeneration; lethal neurodegenerative disorder due to copper transport defect; acetyl CoA transporter deficiency
Disease Hierarchy	DISYKSRF: Genetic disease DISPXQ3Q: Huppke-Brendel syndrome
Disease Identifiers	MONDO ID MONDO_0013772 UMLS CUI C3280965 OMIM ID 614482 MedGen ID 482595 Orphanet ID 300313

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
SLC33A1	TTL69WB	Limited	Biomarker	[1]
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This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC33A1	DTDEWVR	Definitive	Autosomal recessive	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SLC33A1	OTZ01UJZ	Definitive	Autosomal recessive	[2]
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References

1	Mitochondrial medicine in the omics era.Lancet. 2018 Jun 23;391(10139):2560-2574. doi: 10.1016/S0140-6736(18)30727-X. Epub 2018 Jun 18.
2	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.