MC1DN30
MCID: MTC148
MIFTS: 19

Mitochondrial Complex I Deficiency, Nuclear Type 30 (MC1DN30)

Categories: Genetic diseases, Metabolic 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 57 72
Mc1dn30 57 12 72
Mitochondrial Complex 1 Deficiency, Nuclear Type 30 29 6
Nuclear Type Mitochondrial Complex I Deficiency 30 12

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Miscellaneous:
neonatal death
onset at birth
one patient has been reported (last curated january 2018)

Inheritance:
x-linked


HPO:

31
mitochondrial complex i deficiency, nuclear type 30:
Onset and clinical course neonatal death congenital onset
Inheritance x-linked inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0112098
OMIM® 57 301021
OMIM Phenotypic Series 57 PS252010
MeSH 44 D028361

Summaries for Mitochondrial Complex I Deficiency, Nuclear Type 30

UniProtKB/Swiss-Prot : 72 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 heart, and related phenotypes are congestive heart failure and intrauterine growth retardation

Disease Ontology : 12 A nuclear type mitochondrial complex I deficiency that has material basis in hemizygous mutation in NDUFB11 on chromosome Xp11.3.

More information from OMIM: 301021 PS252010

Related Diseases for Mitochondrial Complex I Deficiency, Nuclear Type 30

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

Human phenotypes related to Mitochondrial Complex I Deficiency, Nuclear Type 30:

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 congestive heart failure 31 HP:0001635
2 intrauterine growth retardation 31 HP:0001511
3 redundant skin 31 HP:0001582
4 premature birth 31 HP:0001622
5 respiratory failure 31 HP:0002878
6 metabolic acidosis 31 HP:0001942

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Skin Nails Hair Skin:
redundant skin

Respiratory:
respiratory failure

Cardiovascular Heart:
cardiac failure

Laboratory Abnormalities:
mitochondrial complex i deficiency in various tissues

Prenatal Manifestations Delivery:
premature birth

Metabolic Features:
metabolic acidosis

Growth Other:
intrauterine growth restriction (iugr)

Clinical features from OMIM®:

301021 (Updated 20-May-2021)

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 1 Deficiency, Nuclear Type 30 29 NDUFB11

Anatomical Context for Mitochondrial Complex I Deficiency, Nuclear Type 30

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

40
Heart

Publications for Mitochondrial Complex I Deficiency, Nuclear Type 30

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

# Title Authors PMID Year
1
A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies. 57 6
26741492 2016

Variations for Mitochondrial Complex I Deficiency, Nuclear Type 30

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

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 NDUFB11 NM_019056.6(NDUFB11):c.391G>A (p.Glu131Lys) SNV Pathogenic 372149 rs1057519073 GRCh37: X:47001817-47001817
GRCh38: X:47142418-47142418
2 NDUFB11 NM_001135998.3(NDUFB11):c.260T>C (p.Met87Thr) SNV Uncertain significance 1027717 GRCh37: X:47002091-47002091
GRCh38: X:47142692-47142692
3 NDUFB11 NM_019056.6(NDUFB11):c.457G>A (p.Asp153Asn) SNV Uncertain significance 689468 rs374083393 GRCh37: X:47001751-47001751
GRCh38: X:47142352-47142352

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

72
# Symbol AA change Variation ID SNP ID
1 NDUFB11 p.Glu121Lys VAR_076277 rs105751907

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