MCID: CNZ011
MIFTS: 18

Coenzyme Q10 Deficiency, Primary, 8

Categories: Genetic 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 75 6
Coq10d8 57 75

Characteristics:

OMIM:

57
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:

32
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 : 75 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 renal dysplasia and hearing impairment

Description from OMIM: 616733

Related Diseases for Coenzyme Q10 Deficiency, Primary, 8

Symptoms & Phenotypes for Coenzyme Q10 Deficiency, Primary, 8

Symptoms via clinical synopsis from OMIM:

57
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
inability to sit, stand, or walk independently
learning disability, mild

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

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

32 (show all 21)
# Description HPO Frequency HPO Source Accession
1 renal dysplasia 32 HP:0000110
2 hearing impairment 32 HP:0000365
3 visual impairment 32 HP:0000505
4 muscular hypotonia 32 HP:0001252
5 global developmental delay 32 HP:0001263
6 motor delay 32 HP:0001270
7 polyneuropathy 32 HP:0001271
8 generalized hypotonia 32 HP:0001290
9 muscle weakness 32 HP:0001324
10 flexion contracture 32 HP:0001371
11 intrauterine growth retardation 32 HP:0001511
12 small for gestational age 32 HP:0001518
13 oligohydramnios 32 HP:0001562
14 pulmonary hypoplasia 32 HP:0002089
15 respiratory distress 32 HP:0002098
16 elevated serum creatinine 32 HP:0003259
17 abnormal renal corticomedullary differentiation 32 HP:0005932
18 postnatal growth retardation 32 HP:0008897
19 peripheral demyelination 32 HP:0011096
20 feeding difficulties 32 HP:0011968
21 pain 32 HP:0012531

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

Anatomical Context for Coenzyme Q10 Deficiency, Primary, 8

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

41
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:

75
# 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

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 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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