MCID: MTC137
MIFTS: 21

Mitochondrial Complex V Deficiency, Nuclear Type 4

Categories: Genetic diseases, Metabolic diseases

Aliases & Classifications for Mitochondrial Complex V Deficiency, Nuclear Type 4

MalaCards integrated aliases for Mitochondrial Complex V Deficiency, Nuclear Type 4:

Name: Mitochondrial Complex V Deficiency, Nuclear Type 4 57 29 6 73
Mc5dn4 57 12 75
Mitochondrial Complex Deficiency, Nuclear Type 4 57 13
Mitochondrial Complex V Deficiency, Nuclear, Type 4 40
Mitochondrial Complex V Deficiency Nuclear Type 4 12
Mitochondrial Complex V Deficiency, Atp5a1 Type 57
Mitochondrial Complex V Deficiency Atp5a1 Type 75
Mitochondrial Complex V Deficiency, Nuclear 4 75
Mitochondrial Complex V Deficiency Type 4 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset at birth
death in first weeks of life
two sibs have been reported (last curated may 2013)


HPO:

32
mitochondrial complex v deficiency, nuclear type 4:
Onset and clinical course congenital onset
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 615228
Disease Ontology 12 DOID:0060333
ICD10 33 E88.8
MeSH 44 D017237
UMLS 73 C3808899

Summaries for Mitochondrial Complex V Deficiency, Nuclear Type 4

UniProtKB/Swiss-Prot : 75 Mitochondrial complex V deficiency, nuclear 4: A mitochondrial disorder with heterogeneous clinical manifestations including dysmorphic features, psychomotor retardation, hypotonia, growth retardation, cardiomyopathy, enlarged liver, hypoplastic kidneys and elevated lactate levels in urine, plasma and cerebrospinal fluid.

MalaCards based summary : Mitochondrial Complex V Deficiency, Nuclear Type 4, is also known as mc5dn4, and has symptoms including apnea An important gene associated with Mitochondrial Complex V Deficiency, Nuclear Type 4 is ATP5F1A (ATP Synthase F1 Subunit Alpha). Affiliated tissues include liver, kidney and pons, and related phenotypes are nystagmus and irritability

Disease Ontology : 12 A mitochondrial complex V (ATP synthase) deficiency that has material basis in mutation in the ATP5A1 gene on chromosome 18q.

Description from OMIM: 615228

Related Diseases for Mitochondrial Complex V Deficiency, Nuclear Type 4

Symptoms & Phenotypes for Mitochondrial Complex V Deficiency, Nuclear Type 4

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
nystagmus

Voice:
high-pitched cry

Genitourinary Kidneys:
small renal cysts

Laboratory Abnormalities:
fibroblasts show decreased mitochondrial complex v activity
decreased mitochondrial complex v assembly

Neurologic Central Nervous System:
irritability
encephalopathy, progressive
thalamic lesions
seizures, intractable
small cerebellum
more
Respiratory:
apneic episodes

Muscle Soft Tissue:
lipid droplets seen on muscle biopsy


Clinical features from OMIM:

615228

Human phenotypes related to Mitochondrial Complex V Deficiency, Nuclear Type 4:

32 (show all 7)
# Description HPO Frequency HPO Source Accession
1 nystagmus 32 HP:0000639
2 irritability 32 HP:0000737
3 encephalopathy 32 HP:0001298
4 cerebellar hypoplasia 32 HP:0001321
5 pulmonary hypoplasia 32 HP:0002089
6 apnea 32 HP:0002104
7 high-pitched cry 32 HP:0025430

UMLS symptoms related to Mitochondrial Complex V Deficiency, Nuclear Type 4:


apnea

Drugs & Therapeutics for Mitochondrial Complex V Deficiency, Nuclear Type 4

Search Clinical Trials , NIH Clinical Center for Mitochondrial Complex V Deficiency, Nuclear Type 4

Genetic Tests for Mitochondrial Complex V Deficiency, Nuclear Type 4

Genetic tests related to Mitochondrial Complex V Deficiency, Nuclear Type 4:

# Genetic test Affiliating Genes
1 Mitochondrial Complex V (atp Synthase) Deficiency, Nuclear Type 4 29 ATP5F1A

Anatomical Context for Mitochondrial Complex V Deficiency, Nuclear Type 4

MalaCards organs/tissues related to Mitochondrial Complex V Deficiency, Nuclear Type 4:

41
Liver, Kidney, Pons, Cerebellum

Publications for Mitochondrial Complex V Deficiency, Nuclear Type 4

Variations for Mitochondrial Complex V Deficiency, Nuclear Type 4

UniProtKB/Swiss-Prot genetic disease variations for Mitochondrial Complex V Deficiency, Nuclear Type 4:

75
# Symbol AA change Variation ID SNP ID
1 ATP5F1A p.Arg329Cys VAR_069769 rs587776960

ClinVar genetic disease variations for Mitochondrial Complex V Deficiency, Nuclear Type 4:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ATP5F1A NM_001001937.1(ATP5F1A): c.985C> T (p.Arg329Cys) single nucleotide variant Pathogenic rs587776960 GRCh37 Chromosome 18, 43667165: 43667165
2 ATP5F1A NM_001001937.1(ATP5F1A): c.985C> T (p.Arg329Cys) single nucleotide variant Pathogenic rs587776960 GRCh38 Chromosome 18, 46087199: 46087199

Expression for Mitochondrial Complex V Deficiency, Nuclear Type 4

Search GEO for disease gene expression data for Mitochondrial Complex V Deficiency, Nuclear Type 4.

Pathways for Mitochondrial Complex V Deficiency, Nuclear Type 4

GO Terms for Mitochondrial Complex V Deficiency, Nuclear Type 4

Sources for Mitochondrial Complex V Deficiency, Nuclear Type 4

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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