MCID: MTC148
MIFTS: 8

Mitochondrial Complex I Deficiency, Nuclear Type 30

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 6
Mc1dn30 58

Characteristics:

OMIM:

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

Inheritance:
x-linked


Classifications:



External Ids:

OMIM 58 301021

Summaries for Mitochondrial Complex I Deficiency, Nuclear Type 30

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 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

Anatomical Context for Mitochondrial Complex I Deficiency, Nuclear Type 30

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

42
Skin

Publications for Mitochondrial Complex I Deficiency, Nuclear Type 30

Variations for Mitochondrial Complex I Deficiency, Nuclear Type 30

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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