MC1DN29
MCID: MTC175
MIFTS: 17

Mitochondrial Complex I Deficiency, Nuclear Type 29 (MC1DN29)

Categories: Genetic diseases

Aliases & Classifications for Mitochondrial Complex I Deficiency, Nuclear Type 29

MalaCards integrated aliases for Mitochondrial Complex I Deficiency, Nuclear Type 29:

Name: Mitochondrial Complex I Deficiency, Nuclear Type 29 58 76 30 6
Mc1dn29 58 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset of exercise intolerance in childhood or adolescence
patient a had a more severe phenotype with earlier onset


Classifications:



Summaries for Mitochondrial Complex I Deficiency, Nuclear Type 29

UniProtKB/Swiss-Prot : 76 Mitochondrial complex I deficiency, nuclear type 29: 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. MC1DN29 transmission pattern is consistent with autosomal recessive inheritance.

MalaCards based summary : Mitochondrial Complex I Deficiency, Nuclear Type 29, is also known as mc1dn29. An important gene associated with Mitochondrial Complex I Deficiency, Nuclear Type 29 is TMEM126B (Transmembrane Protein 126B). Affiliated tissues include liver and heart, and related phenotypes are muscle weakness and failure to thrive

Description from OMIM: 618250

Related Diseases for Mitochondrial Complex I Deficiency, Nuclear Type 29

Symptoms & Phenotypes for Mitochondrial Complex I Deficiency, Nuclear Type 29

Human phenotypes related to Mitochondrial Complex I Deficiency, Nuclear Type 29:

33 (show all 8)
# Description HPO Frequency HPO Source Accession
1 muscle weakness 33 HP:0001324
2 failure to thrive 33 HP:0001508
3 hypertrophic cardiomyopathy 33 HP:0001639
4 increased serum lactate 33 HP:0002151
5 myalgia 33 HP:0003326
6 easy fatigability 33 HP:0003388
7 exercise intolerance 33 HP:0003546
8 hyperalaninemia 33 HP:0003348

Symptoms via clinical synopsis from OMIM:

58
Muscle Soft Tissue:
muscle weakness
myalgia
easy fatigability
exercise intolerance
walking difficulties
more
Growth Other:
poor overall growth (patient a)
failure to thrive (patient a)

Genitourinary Kidneys:
chronic renal failure (patient a)

Laboratory Abnormalities:
increased serum lactate
increased serum alanine
mitochondrial complex i deficiency in various tissues

Cardiovascular Heart:
congenital heart defects (patient a)
hypertrophic cardiomyopathy (patient a)

Clinical features from OMIM:

618250

Drugs & Therapeutics for Mitochondrial Complex I Deficiency, Nuclear Type 29

Search Clinical Trials , NIH Clinical Center for Mitochondrial Complex I Deficiency, Nuclear Type 29

Genetic Tests for Mitochondrial Complex I Deficiency, Nuclear Type 29

Genetic tests related to Mitochondrial Complex I Deficiency, Nuclear Type 29:

# Genetic test Affiliating Genes
1 Mitochondrial Complex I Deficiency, Nuclear Type 29 30 TMEM126B

Anatomical Context for Mitochondrial Complex I Deficiency, Nuclear Type 29

MalaCards organs/tissues related to Mitochondrial Complex I Deficiency, Nuclear Type 29:

42
Liver, Heart

Publications for Mitochondrial Complex I Deficiency, Nuclear Type 29

Articles related to Mitochondrial Complex I Deficiency, Nuclear Type 29:

# Title Authors Year
1
Mutations in Complex I Assembly Factor TMEM126B Result in Muscle Weakness and Isolated Complex I Deficiency. ( 27374773 )
2016
2
Biallelic Mutations in TMEM126B Cause Severe Complex I Deficiency with a Variable Clinical Phenotype. ( 27374774 )
2016

Variations for Mitochondrial Complex I Deficiency, Nuclear Type 29

UniProtKB/Swiss-Prot genetic disease variations for Mitochondrial Complex I Deficiency, Nuclear Type 29:

76
# Symbol AA change Variation ID SNP ID
1 TMEM126B p.Gly212Val VAR_081465

ClinVar genetic disease variations for Mitochondrial Complex I Deficiency, Nuclear Type 29:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TMEM126B NM_018480.5(TMEM126B): c.401del (p.Asn134Ilefs) deletion Pathogenic rs886037835 GRCh37 Chromosome 11, 85346714: 85346714
2 TMEM126B NM_018480.5(TMEM126B): c.401del (p.Asn134Ilefs) deletion Pathogenic rs886037835 GRCh38 Chromosome 11, 85635670: 85635670
3 TMEM126B NM_018480.5(TMEM126B): c.635G> T (p.Gly212Val) single nucleotide variant Pathogenic rs141542003 GRCh37 Chromosome 11, 85347215: 85347215
4 TMEM126B NM_018480.5(TMEM126B): c.635G> T (p.Gly212Val) single nucleotide variant Pathogenic rs141542003 GRCh38 Chromosome 11, 85636171: 85636171
5 TMEM126B NM_018480.5(TMEM126B): c.397G> A (p.Asp133Asn) single nucleotide variant Pathogenic rs573006534 GRCh37 Chromosome 11, 85345323: 85345323
6 TMEM126B NM_018480.5(TMEM126B): c.397G> A (p.Asp133Asn) single nucleotide variant Pathogenic rs573006534 GRCh38 Chromosome 11, 85634279: 85634279
7 TMEM126B NM_018480.5(TMEM126B): c.208C> T (p.Gln70Ter) single nucleotide variant Pathogenic rs886037857 GRCh37 Chromosome 11, 85345134: 85345134
8 TMEM126B NM_018480.5(TMEM126B): c.208C> T (p.Gln70Ter) single nucleotide variant Pathogenic rs886037857 GRCh38 Chromosome 11, 85634090: 85634090

Expression for Mitochondrial Complex I Deficiency, Nuclear Type 29

Search GEO for disease gene expression data for Mitochondrial Complex I Deficiency, Nuclear Type 29.

Pathways for Mitochondrial Complex I Deficiency, Nuclear Type 29

GO Terms for Mitochondrial Complex I Deficiency, Nuclear Type 29

Sources for Mitochondrial Complex I Deficiency, Nuclear Type 29

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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