MCID: CQR001
MIFTS: 9

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 57 53 73

Classifications:



External Ids:

OMIM 57 608158
MedGen 42 C1842463
UMLS 73 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:

41
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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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