SQORD
MCID: SLF020
MIFTS: 14

Sulfide:quinone Oxidoreductase Deficiency (SQORD)

Categories: Genetic diseases

Aliases & Classifications for Sulfide:quinone Oxidoreductase Deficiency

MalaCards integrated aliases for Sulfide:quinone Oxidoreductase Deficiency:

Name: Sulfide:quinone Oxidoreductase Deficiency 57 6
Sqord 57

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
encephalopathic episodes triggered by fasting and illness


Classifications:



External Ids:

OMIM® 57 619221

Summaries for Sulfide:quinone Oxidoreductase Deficiency

OMIM® : 57 Sulfide:quinone oxidoreductase-deficiency (SQORD) is characterized by a variable phenotype ranging from no clinical symptoms to episodes of encephalopathy and Leigh syndrome-like (see 256000) brain lesions, with acute symptoms triggered by infections and fasting. Other features may include lactic acidosis and decreased mitochondrial respiratory chain complex IV activity in tissues. Most affected individuals are asymptomatic. Patients with encephalopathy may recover or die in childhood (Friederich et al., 2020). (619221) (Updated 05-Apr-2021)

MalaCards based summary : Sulfide:quinone Oxidoreductase Deficiency, is also known as sqord. An important gene associated with Sulfide:quinone Oxidoreductase Deficiency is SQOR (Sulfide Quinone Oxidoreductase). Affiliated tissues include liver and globus pallidus.

Related Diseases for Sulfide:quinone Oxidoreductase Deficiency

Symptoms & Phenotypes for Sulfide:quinone Oxidoreductase Deficiency

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
seizures
coma
episodic encephalopathy
migraine (1 patient)
leigh syndrome-like lesions seen on mri
more
Laboratory Abnormalities:
elevated creatine kinase
elevated blood lactate
elevated anion gap

Abdomen Liver:
liver failure

Clinical features from OMIM®:

619221 (Updated 05-Apr-2021)

Drugs & Therapeutics for Sulfide:quinone Oxidoreductase Deficiency

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Randomized Web-Based Physical Activity Intervention Among Children and Adolescents With Cancer Active, not recruiting NCT03223753 Phase 3

Search NIH Clinical Center for Sulfide:quinone Oxidoreductase Deficiency

Genetic Tests for Sulfide:quinone Oxidoreductase Deficiency

Anatomical Context for Sulfide:quinone Oxidoreductase Deficiency

MalaCards organs/tissues related to Sulfide:quinone Oxidoreductase Deficiency:

40
Liver, Globus Pallidus

Publications for Sulfide:quinone Oxidoreductase Deficiency

Articles related to Sulfide:quinone Oxidoreductase Deficiency:

# Title Authors PMID Year
1
Pathogenic variants in SQOR encoding sulfide:quinone oxidoreductase are a potentially treatable cause of Leigh disease. 6 57
32160317 2020
2
Youth Oriented Activity Trackers: Comprehensive Laboratory- and Field-Based Validation. 61
28724509 2017
3
The Physical Activity Tracker Testing in Youth (P.A.T.T.Y.) Study: Content Analysis and Children's Perceptions. 61
28455278 2017

Variations for Sulfide:quinone Oxidoreductase Deficiency

ClinVar genetic disease variations for Sulfide:quinone Oxidoreductase Deficiency:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SQOR NM_021199.4(SQOR):c.637G>A (p.Glu213Lys) SNV Pathogenic 1012234 GRCh37: 15:45965982-45965982
GRCh38: 15:45673784-45673784
2 SQOR NM_021199.4(SQOR):c.446del (p.Leu149fs) Deletion Pathogenic 1012235 GRCh37: 15:45962166-45962166
GRCh38: 15:45669968-45669968

Expression for Sulfide:quinone Oxidoreductase Deficiency

Search GEO for disease gene expression data for Sulfide:quinone Oxidoreductase Deficiency.

Pathways for Sulfide:quinone Oxidoreductase Deficiency

GO Terms for Sulfide:quinone Oxidoreductase Deficiency

Sources for Sulfide:quinone Oxidoreductase Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....