Mitochondrial Complex V Deficiency, Nuclear Type 4 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Genetic diseases Metabolic diseases

See all MalaCards categories (disease lists)

ICD10: ³³

Endocrine, nutritional and metabolic diseases

Metabolic disorders

Other metabolic disorders

Other specified metabolic disorders

External Ids:

OMIM ⁵⁷ 615228

Disease Ontology ¹² DOID:0060333

ICD10 ³³ E88.8

MedGen ⁴² C3808899 CN169669

MeSH ⁴⁴ D017237

SNOMED-CT via HPO ⁶⁹ 258211005 563001 128613002 more

UMLS ⁷³ C3808899

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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 kidney, liver and cerebellum, and related phenotypes are nystagmus and seizures

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

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Related Diseases for Mitochondrial Complex V Deficiency, Nuclear Type 4

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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 8)

#	Description	HPO Source Accession
1	nystagmus ³²	HP:0000639
2	seizures ³²	HP:0001250
3	irritability ³²	HP:0000737
4	apnea ³²	HP:0002104
5	cerebellar hypoplasia ³²	HP:0001321
6	pulmonary hypoplasia ³²	HP:0002089
7	encephalopathy ³²	HP:0001298
8	high-pitched cry ³²	HP:0025430

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

apnea

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

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

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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

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Anatomical Context for Mitochondrial Complex V Deficiency, Nuclear Type 4

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

⁴¹

Kidney, Liver, Cerebellum, Pons

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Publications for Mitochondrial Complex V Deficiency, Nuclear Type 4

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Genes for Mitochondrial Complex V Deficiency, Nuclear Type 4

Genes related to Mitochondrial Complex V Deficiency, Nuclear Type 4 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	ATP5F1A	ATP Synthase F1 Subunit Alpha	Protein Coding	1350	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷⁵ Genetic Tests ²⁹ Unconfirmed association ⁵⁷	23599390

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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

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Expression for Mitochondrial Complex V Deficiency, Nuclear Type 4

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

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Pathways for Mitochondrial Complex V Deficiency, Nuclear Type 4

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GO Terms for Mitochondrial Complex V Deficiency, Nuclear Type 4

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Sources for Mitochondrial Complex V Deficiency, Nuclear Type 4

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⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia

Mitochondrial Complex V Deficiency, Nuclear Type 4 (MC5DN4)

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

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

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Mitochondrial Complex V Deficiency, Nuclear Type 4

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:

Clinical features from OMIM:

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

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

Drugs & Therapeutics 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:

Anatomical Context for Mitochondrial Complex V Deficiency, Nuclear Type 4

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

Publications for Mitochondrial Complex V Deficiency, Nuclear Type 4

Genes for Mitochondrial Complex V Deficiency, Nuclear Type 4

Genes related to Mitochondrial Complex V Deficiency, Nuclear Type 4 (1 elite genes):

Variations for Mitochondrial Complex V Deficiency, Nuclear Type 4

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

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

Expression 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