COQ10D8
MCID: CNZ011
MIFTS: 21

Coenzyme Q10 Deficiency, Primary, 8 (COQ10D8)

Categories: Genetic diseases, Metabolic diseases

Aliases & Classifications for Coenzyme Q10 Deficiency, Primary, 8

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

Name: Coenzyme Q10 Deficiency, Primary, 8 58 12 76 30 6
Coq10d8 58 12 76
Primary Coenzyme Q10 Deficiency 8 12

Characteristics:

OMIM:

58
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:

33
coenzyme q10 deficiency, primary, 8:
Onset and clinical course congenital onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Coenzyme Q10 Deficiency, Primary, 8

UniProtKB/Swiss-Prot : 76 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 lung, kidney and skeletal muscle, and related phenotypes are hypertension and muscular hypotonia

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

Description from OMIM: 616733

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:

33 (show all 22)
# Description HPO Frequency HPO Source Accession
1 hypertension 33 HP:0000822
2 muscular hypotonia 33 HP:0001252
3 muscle weakness 33 HP:0001324
4 hearing impairment 33 HP:0000365
5 global developmental delay 33 HP:0001263
6 visual impairment 33 HP:0000505
7 flexion contracture 33 HP:0001371
8 feeding difficulties 33 HP:0011968
9 respiratory distress 33 HP:0002098
10 intrauterine growth retardation 33 HP:0001511
11 postnatal growth retardation 33 HP:0008897
12 motor delay 33 HP:0001270
13 pain 33 HP:0012531
14 elevated serum creatinine 33 HP:0003259
15 oligohydramnios 33 HP:0001562
16 pulmonary hypoplasia 33 HP:0002089
17 generalized hypotonia 33 HP:0001290
18 peripheral demyelination 33 HP:0011096
19 polyneuropathy 33 HP:0001271
20 small for gestational age 33 HP:0001518
21 renal dysplasia 33 HP:0000110
22 abnormal renal corticomedullary differentiation 33 HP:0005932

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
visual impairment

Growth Other:
intrauterine growth retardation
postnatal growth retardation

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

Abdomen Gastrointestinal:
feeding difficulties

Prenatal Manifestations Amniotic Fluid:
oligohydramnios

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

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 30 COQ7

Anatomical Context for Coenzyme Q10 Deficiency, Primary, 8

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

42
Lung, Kidney, Skeletal Muscle, Fetal Lung

Publications for Coenzyme Q10 Deficiency, Primary, 8

Variations for Coenzyme Q10 Deficiency, Primary, 8

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

76
# Symbol AA change Variation ID SNP ID
1 COQ7 p.Val141Glu VAR_076370 rs864321686

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 COQ7 NM_016138.4(COQ7): c.422T> A (p.Val141Glu) single nucleotide variant Pathogenic rs864321686 GRCh38 Chromosome 16, 19075775: 19075775
2 COQ7 NM_016138.4(COQ7): c.422T> A (p.Val141Glu) single nucleotide variant Pathogenic rs864321686 GRCh37 Chromosome 16, 19087097: 19087097
3 COQ7 NM_016138.4(COQ7): c.9C> A (p.Cys3Ter) single nucleotide variant Uncertain significance GRCh37 Chromosome 16, 19078995: 19078995
4 COQ7 NM_016138.4(COQ7): c.9C> A (p.Cys3Ter) single nucleotide variant Uncertain significance GRCh38 Chromosome 16, 19067673: 19067673
5 COQ7 NM_016138.4(COQ7): c.161G> A (p.Arg54Gln) single nucleotide variant Uncertain significance GRCh37 Chromosome 16, 19083337: 19083337
6 COQ7 NM_016138.4(COQ7): c.161G> A (p.Arg54Gln) single nucleotide variant Uncertain significance GRCh38 Chromosome 16, 19072015: 19072015

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

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10 dbSNP
11 DGIdb
17 EFO
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20 FMA
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31 HGMD
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50 NCI
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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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