MCID: CQR001
MIFTS: 8

Coq-Responsive Oxphos Deficiency

Categories: Rare diseases

Aliases & Classifications for Coq-Responsive Oxphos Deficiency

MalaCards integrated aliases for Coq-Responsive Oxphos Deficiency:

Name: Coq-Responsive Oxphos Deficiency 58 54 74

Classifications:



External Ids:

OMIM 58 608158
MedGen 43 C1842463
UMLS 74 C1842463

Summaries for Coq-Responsive Oxphos Deficiency

MalaCards based summary : Coq-Responsive Oxphos Deficiency is related to leigh syndrome and infantile liver failure syndrome 1. Affiliated tissues include liver.

Description from OMIM: 608158

Related Diseases for Coq-Responsive Oxphos Deficiency

Diseases related to Coq-Responsive Oxphos Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 leigh syndrome 10.3
2 infantile liver failure syndrome 1 10.3

Symptoms & Phenotypes for Coq-Responsive Oxphos Deficiency

Clinical features from OMIM:

608158

Drugs & Therapeutics for Coq-Responsive Oxphos Deficiency

Search Clinical Trials , NIH Clinical Center for Coq-Responsive Oxphos Deficiency

Genetic Tests for Coq-Responsive Oxphos Deficiency

Anatomical Context for Coq-Responsive Oxphos Deficiency

MalaCards organs/tissues related to Coq-Responsive Oxphos Deficiency:

42
Liver

Publications for Coq-Responsive Oxphos Deficiency

Articles related to Coq-Responsive Oxphos Deficiency:

# Title Authors Year
1
Neonatal liver failure and Leigh syndrome possibly due to CoQ-responsive OXPHOS deficiency. ( 12948744 )
2003

Variations for Coq-Responsive Oxphos Deficiency

Expression for Coq-Responsive Oxphos Deficiency

Search GEO for disease gene expression data for Coq-Responsive Oxphos Deficiency.

Pathways for Coq-Responsive Oxphos Deficiency

GO Terms for Coq-Responsive Oxphos Deficiency

Sources for Coq-Responsive Oxphos Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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