COQ10D8
MCID: CNZ011
MIFTS: 25

Coenzyme Q10 Deficiency, Primary, 8 (COQ10D8)

Categories: Genetic diseases, Metabolic diseases, Nephrological diseases

Aliases & Classifications for Coenzyme Q10 Deficiency, Primary, 8

MalaCards integrated aliases for Coenzyme Q10 Deficiency, Primary, 8:

Name: Coenzyme Q10 Deficiency, Primary, 8 57 12 72 29 6
Coq10d8 57 12 72
Primary Coenzyme Q10 Deficiency 8 12

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset at birth
renal dysfunction normalizes in the first year of life
cardiac and pulmonary dysfunction normalize in the first year of life
treatment with coq10 may result in some clinical improvement
one patient has been reported (last curated january 2015)


HPO:

31
coenzyme q10 deficiency, primary, 8:
Inheritance autosomal recessive inheritance
Onset and clinical course congenital onset


Classifications:



Summaries for Coenzyme Q10 Deficiency, Primary, 8

UniProtKB/Swiss-Prot : 72 Coenzyme Q10 deficiency, primary, 8: An autosomal recessive disorder resulting from mitochondrial dysfunction and characterized by decreased levels of coenzyme Q10. Patients manifest neonatal lung hypoplasia, contractures, early infantile hypertension and cardiac hypertrophy, secondary to prenatal kidney dysplasia, with neonatal and infantile renal dysfunction. Clinical features also include progressive peripheral neuropathy, muscular hypotonia and atrophy, and mild psychomotor delay with hearing and visual impairment.

MalaCards based summary : Coenzyme Q10 Deficiency, Primary, 8, is also known as coq10d8. An important gene associated with Coenzyme Q10 Deficiency, Primary, 8 is COQ7 (Coenzyme Q7, Hydroxylase). Affiliated tissues include skeletal muscle, fetal lung and lung, and related phenotypes are hypertension and muscle weakness

Disease Ontology : 12 A primary coenzyme Q10 deficiency that has material basis in an autosomal recessive mutation of COQ7 on chromosome 16p12.3.

More information from OMIM: 616733 PS607426

Related Diseases for Coenzyme Q10 Deficiency, Primary, 8

Symptoms & Phenotypes for Coenzyme Q10 Deficiency, Primary, 8

Human phenotypes related to Coenzyme Q10 Deficiency, Primary, 8:

31 (show all 23)
# Description HPO Frequency HPO Source Accession
1 hypertension 31 HP:0000822
2 muscle weakness 31 HP:0001324
3 hearing impairment 31 HP:0000365
4 global developmental delay 31 HP:0001263
5 visual impairment 31 HP:0000505
6 flexion contracture 31 HP:0001371
7 intrauterine growth retardation 31 HP:0001511
8 postnatal growth retardation 31 HP:0008897
9 motor delay 31 HP:0001270
10 left ventricular hypertrophy 31 HP:0001712
11 oligohydramnios 31 HP:0001562
12 feeding difficulties 31 HP:0011968
13 respiratory distress 31 HP:0002098
14 pulmonary hypoplasia 31 HP:0002089
15 polyneuropathy 31 HP:0001271
16 small for gestational age 31 HP:0001518
17 generalized hypotonia 31 HP:0001290
18 renal dysplasia 31 HP:0000110
19 pain 31 HP:0012531
20 elevated serum creatinine 31 HP:0003259
21 peripheral demyelination 31 HP:0011096
22 hypotonia 31 HP:0001252
23 abnormal renal corticomedullary differentiation 31 HP:0005932

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Eyes:
visual impairment

Prenatal Manifestations Amniotic Fluid:
oligohydramnios

Muscle Soft Tissue:
hypotonia
thin musculature

Skeletal:
joint contractures

Head And Neck Ears:
hearing impairment, sensorineural and conductive

Cardiovascular Vascular:
hypertension secondary renal dysfunction

Neurologic Peripheral Nervous System:
sensorimotor axonal and demyelinating polyneuropathy

Growth Other:
intrauterine growth retardation
postnatal growth retardation

Abdomen Gastrointestinal:
feeding difficulties

Neurologic Central Nervous System:
delayed motor development
learning disability, mild
inability to sit, stand, or walk independently

Respiratory Lung:
persistent pulmonary hypertension of the newborn
fetal lung hypoplasia
respiratory distress, neonatal period

Cardiovascular Heart:
left ventricular hypertrophy secondary to renal dysfunction and hypertension

Genitourinary Kidneys:
renal dysfunction, neonatal and infantile
small dysplastic kidneys

Laboratory Abnormalities:
increased serum and cerebrospinal fluid lactate, mild
increased urinary fumarate and malate
combined mitochondrial respiratory enzyme deficiency in skeletal muscle and fibroblasts
decreased coq10 levels in skeletal muscle and fibroblasts

Clinical features from OMIM®:

616733 (Updated 20-May-2021)

Drugs & Therapeutics for Coenzyme Q10 Deficiency, Primary, 8

Search Clinical Trials , NIH Clinical Center for Coenzyme Q10 Deficiency, Primary, 8

Genetic Tests for Coenzyme Q10 Deficiency, Primary, 8

Genetic tests related to Coenzyme Q10 Deficiency, Primary, 8:

# Genetic test Affiliating Genes
1 Coenzyme Q10 Deficiency, Primary, 8 29 COQ7

Anatomical Context for Coenzyme Q10 Deficiency, Primary, 8

MalaCards organs/tissues related to Coenzyme Q10 Deficiency, Primary, 8:

40
Skeletal Muscle, Fetal Lung, Lung

Publications for Coenzyme Q10 Deficiency, Primary, 8

Articles related to Coenzyme Q10 Deficiency, Primary, 8:

# Title Authors PMID Year
1
Rescue of primary ubiquinone deficiency due to a novel COQ7 defect using 2,4-dihydroxybensoic acid. 6 57
26084283 2015
2
A three-year follow-up study evaluating clinical utility of exome sequencing and diagnostic potential of reanalysis. 6
32963807 2020
3
A fatal case of COQ7-associated primary coenzyme Q10 deficiency. 6
31240163 2019

Variations for Coenzyme Q10 Deficiency, Primary, 8

ClinVar genetic disease variations for Coenzyme Q10 Deficiency, Primary, 8:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 COQ7 NM_016138.5(COQ7):c.422T>A (p.Val141Glu) SNV Pathogenic 219119 rs864321686 GRCh37: 16:19087097-19087097
GRCh38: 16:19075775-19075775
2 COQ7 NM_016138.5(COQ7):c.599_600delinsTAATGCATC (p.Lys200fs) Indel Likely pathogenic 929474 GRCh37: 16:19089425-19089426
GRCh38: 16:19078103-19078104
3 COQ7 NM_016138.5(COQ7):c.319C>T (p.Arg107Trp) SNV Uncertain significance 929475 GRCh37: 16:19085309-19085309
GRCh38: 16:19073987-19073987
4 COQ7-DT , COQ7 NM_016138.5(COQ7):c.9C>A (p.Cys3Ter) SNV Uncertain significance 587429 rs369616615 GRCh37: 16:19078995-19078995
GRCh38: 16:19067673-19067673
5 COQ7 NM_016138.5(COQ7):c.161G>A (p.Arg54Gln) SNV Uncertain significance 587428 rs770654508 GRCh37: 16:19083337-19083337
GRCh38: 16:19072015-19072015

UniProtKB/Swiss-Prot genetic disease variations for Coenzyme Q10 Deficiency, Primary, 8:

72
# Symbol AA change Variation ID SNP ID
1 COQ7 p.Val141Glu VAR_076370 rs864321686

Expression for Coenzyme Q10 Deficiency, Primary, 8

Search GEO for disease gene expression data for Coenzyme Q10 Deficiency, Primary, 8.

Pathways for Coenzyme Q10 Deficiency, Primary, 8

GO Terms for Coenzyme Q10 Deficiency, Primary, 8

Sources for Coenzyme Q10 Deficiency, Primary, 8

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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