MC1DN35
MCID: MTC214
MIFTS: 20

Mitochondrial Complex I Deficiency, Nuclear Type 35 (MC1DN35)

Categories: Genetic diseases, Metabolic diseases

Aliases & Classifications for Mitochondrial Complex I Deficiency, Nuclear Type 35

MalaCards integrated aliases for Mitochondrial Complex I Deficiency, Nuclear Type 35:

Name: Mitochondrial Complex I Deficiency, Nuclear Type 35 57 72
Mc1dn35 57 12 72
Mitochondrial Complex 1 Deficiency, Nuclear Type 35 29 6
Nuclear Type Mitochondrial Complex I Deficiency 35 12

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset in utero
death in early infancy
one patient has been reported (last curated september 2020)


HPO:

31
mitochondrial complex i deficiency, nuclear type 35:
Onset and clinical course neonatal death
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Mitochondrial Complex I Deficiency, Nuclear Type 35

UniProtKB/Swiss-Prot : 72 Mitochondrial complex I deficiency, nuclear type 35: A form of mitochondrial complex I deficiency, the most common biochemical signature of mitochondrial disorders, a group of highly heterogeneous conditions characterized by defective oxidative phosphorylation, which collectively affects 1 in 5-10000 live births. Clinical disorders have variable severity, ranging from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non- specific encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. MC1DN35 transmission pattern is consistent with autosomal recessive inheritance.

MalaCards based summary : Mitochondrial Complex I Deficiency, Nuclear Type 35, is also known as mc1dn35. An important gene associated with Mitochondrial Complex I Deficiency, Nuclear Type 35 is NDUFB10 (NADH:Ubiquinone Oxidoreductase Subunit B10). Affiliated tissues include lung, and related phenotypes are intrauterine growth retardation and neonatal respiratory distress

Disease Ontology : 12 A nuclear type mitochondrial complex I deficiency that has material basis in homozygous or compound heterozygous mutation in NDUFB10 on chromosome 16p13.3.

More information from OMIM: 619003 PS252010

Related Diseases for Mitochondrial Complex I Deficiency, Nuclear Type 35

Symptoms & Phenotypes for Mitochondrial Complex I Deficiency, Nuclear Type 35

Human phenotypes related to Mitochondrial Complex I Deficiency, Nuclear Type 35:

31 (show all 15)
# Description HPO Frequency HPO Source Accession
1 intrauterine growth retardation 31 very rare (1%) HP:0001511
2 neonatal respiratory distress 31 very rare (1%) HP:0002643
3 pulmonary arterial hypertension 31 very rare (1%) HP:0002092
4 decreased activity of mitochondrial complex i 31 very rare (1%) HP:0011923
5 lactic acidosis 31 very rare (1%) HP:0003128
6 cardiomyopathy 31 very rare (1%) HP:0001638
7 metabolic acidosis 31 very rare (1%) HP:0001942
8 pulmonary hypoplasia 31 very rare (1%) HP:0002089
9 hyperalaninemia 31 very rare (1%) HP:0003348
10 redundant neck skin 31 very rare (1%) HP:0005989
11 hyperprolinemia 31 very rare (1%) HP:0008358
12 nonimmune hydrops fetalis 31 very rare (1%) HP:0001790
13 lacticaciduria 31 very rare (1%) HP:0003648
14 elevated lactate:pyruvate ratio 31 very rare (1%) HP:0032653
15 elevated urinary 4-hydroxybutyric acid 31 very rare (1%) HP:0032528

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Respiratory:
respiratory insufficiency

Cardiovascular Heart:
hypertrophic cardiomyopathy
decreased activity of mitochondrial complex i
abnormal mitochondrial proliferation
lipid accumulation in cardiac tissue

Muscle Soft Tissue:
decreased activity of mitochondrial complex i

Cardiovascular Vascular:
pulmonary hypertension

Prenatal Manifestations Amniotic Fluid:
nonimmune hydrops

Laboratory Abnormalities:
elevated urinary organic acids

Growth Other:
intrauterine growth retardation

Abdomen Liver:
decreased activity of mitochondrial complex i
microvesicular steatosis
abnormal mitochondrial proliferation

Metabolic Features:
lactic acidosis
metabolic acidosis

Respiratory Lung:
lung hypoplasia

Skin Nails Hair Skin:
excessive nuchal skin

Clinical features from OMIM®:

619003 (Updated 05-Apr-2021)

Drugs & Therapeutics for Mitochondrial Complex I Deficiency, Nuclear Type 35

Search Clinical Trials , NIH Clinical Center for Mitochondrial Complex I Deficiency, Nuclear Type 35

Genetic Tests for Mitochondrial Complex I Deficiency, Nuclear Type 35

Genetic tests related to Mitochondrial Complex I Deficiency, Nuclear Type 35:

# Genetic test Affiliating Genes
1 Mitochondrial Complex 1 Deficiency, Nuclear Type 35 29 NDUFB10

Anatomical Context for Mitochondrial Complex I Deficiency, Nuclear Type 35

MalaCards organs/tissues related to Mitochondrial Complex I Deficiency, Nuclear Type 35:

40
Lung

Publications for Mitochondrial Complex I Deficiency, Nuclear Type 35

Articles related to Mitochondrial Complex I Deficiency, Nuclear Type 35:

# Title Authors PMID Year
1
Mutations in the accessory subunit NDUFB10 result in isolated complex I deficiency and illustrate the critical role of intermembrane space import for complex I holoenzyme assembly. 57 6
28040730 2017

Variations for Mitochondrial Complex I Deficiency, Nuclear Type 35

ClinVar genetic disease variations for Mitochondrial Complex I Deficiency, Nuclear Type 35:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 NARS1 NM_004548.3(NDUFB10):c.207dup (p.Glu70Ter) Duplication Pathogenic 977507 GRCh37: 18:55283094-55283095
GRCh38: 18:57615862-57615863
2 NDUFB10 NM_004548.3(NDUFB10):c.319T>C (p.Cys107Arg) SNV Pathogenic 977508 GRCh37: 16:2011547-2011547
GRCh38: 16:1961546-1961546

Expression for Mitochondrial Complex I Deficiency, Nuclear Type 35

Search GEO for disease gene expression data for Mitochondrial Complex I Deficiency, Nuclear Type 35.

Pathways for Mitochondrial Complex I Deficiency, Nuclear Type 35

GO Terms for Mitochondrial Complex I Deficiency, Nuclear Type 35

Sources for Mitochondrial Complex I Deficiency, Nuclear Type 35

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