MC1DN30
MCID: MTC148
MIFTS: 14

Mitochondrial Complex I Deficiency, Nuclear Type 30 (MC1DN30)

Categories: Genetic diseases

Aliases & Classifications for Mitochondrial Complex I Deficiency, Nuclear Type 30

MalaCards integrated aliases for Mitochondrial Complex I Deficiency, Nuclear Type 30:

Name: Mitochondrial Complex I Deficiency, Nuclear Type 30 58 76 30 6
Mc1dn30 58 76

Characteristics:

OMIM:

58
Miscellaneous:
neonatal death
onset at birth
one patient has been reported (last curated january 2018)

Inheritance:
x-linked


HPO:

33
mitochondrial complex i deficiency, nuclear type 30:
Clinical modifier neonatal death
Onset and clinical course congenital onset


Classifications:



External Ids:

OMIM 58 301021
MeSH 45 D028361
MedGen 43 CN257500
SNOMED-CT via HPO 70 276506001

Summaries for Mitochondrial Complex I Deficiency, Nuclear Type 30

UniProtKB/Swiss-Prot : 76 Mitochondrial complex I deficiency, nuclear type 30: 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.

MalaCards based summary : Mitochondrial Complex I Deficiency, Nuclear Type 30, is also known as mc1dn30. An important gene associated with Mitochondrial Complex I Deficiency, Nuclear Type 30 is NDUFB11 (NADH:Ubiquinone Oxidoreductase Subunit B11). Affiliated tissues include liver and skin.

Description from OMIM: 301021

Related Diseases for Mitochondrial Complex I Deficiency, Nuclear Type 30

Symptoms & Phenotypes for Mitochondrial Complex I Deficiency, Nuclear Type 30

Symptoms via clinical synopsis from OMIM:

58
Respiratory:
respiratory failure

Metabolic Features:
metabolic acidosis

Cardiovascular Heart:
cardiac failure

Laboratory Abnormalities:
mitochondrial complex i deficiency in various tissues

Skin Nails Hair Skin:
redundant skin

Prenatal Manifestations Delivery:
premature birth

Growth Other:
intrauterine growth restriction (iugr)

Clinical features from OMIM:

301021

Drugs & Therapeutics for Mitochondrial Complex I Deficiency, Nuclear Type 30

Search Clinical Trials , NIH Clinical Center for Mitochondrial Complex I Deficiency, Nuclear Type 30

Genetic Tests for Mitochondrial Complex I Deficiency, Nuclear Type 30

Genetic tests related to Mitochondrial Complex I Deficiency, Nuclear Type 30:

# Genetic test Affiliating Genes
1 Mitochondrial Complex I Deficiency, Nuclear Type 30 30 NDUFB11

Anatomical Context for Mitochondrial Complex I Deficiency, Nuclear Type 30

MalaCards organs/tissues related to Mitochondrial Complex I Deficiency, Nuclear Type 30:

42
Liver, Skin

Publications for Mitochondrial Complex I Deficiency, Nuclear Type 30

Articles related to Mitochondrial Complex I Deficiency, Nuclear Type 30:

# Title Authors Year
1
A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies. ( 26741492 )
2016

Variations for Mitochondrial Complex I Deficiency, Nuclear Type 30

UniProtKB/Swiss-Prot genetic disease variations for Mitochondrial Complex I Deficiency, Nuclear Type 30:

76
# Symbol AA change Variation ID SNP ID
1 NDUFB11 p.Glu121Lys VAR_076277 rs105751907

ClinVar genetic disease variations for Mitochondrial Complex I Deficiency, Nuclear Type 30:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 NDUFB11 NM_019056.6(NDUFB11): c.391G> A (p.Glu131Lys) single nucleotide variant Pathogenic rs1057519073 GRCh38 Chromosome X, 47142418: 47142418
2 NDUFB11 NM_019056.6(NDUFB11): c.391G> A (p.Glu131Lys) single nucleotide variant Pathogenic rs1057519073 GRCh37 Chromosome X, 47001817: 47001817

Expression for Mitochondrial Complex I Deficiency, Nuclear Type 30

Search GEO for disease gene expression data for Mitochondrial Complex I Deficiency, Nuclear Type 30.

Pathways for Mitochondrial Complex I Deficiency, Nuclear Type 30

GO Terms for Mitochondrial Complex I Deficiency, Nuclear Type 30

Sources for Mitochondrial Complex I Deficiency, Nuclear Type 30

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
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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