MC1DN29
MCID: MTC175
MIFTS: 21

Mitochondrial Complex I Deficiency, Nuclear Type 29 (MC1DN29)

Categories: Genetic diseases, Metabolic 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 57 72
Mc1dn29 57 12 72
Mitochondrial Complex 1 Deficiency, Nuclear Type 29 29 6
Nuclear Type Mitochondrial Complex I Deficiency 29 12

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

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


HPO:

31
mitochondrial complex i deficiency, nuclear type 29:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0112084
OMIM® 57 618250
OMIM Phenotypic Series 57 PS252010
MeSH 44 D028361

Summaries for Mitochondrial Complex I Deficiency, Nuclear Type 29

UniProtKB/Swiss-Prot : 72 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 heart and kidney, and related phenotypes are failure to thrive and muscle weakness

Disease Ontology : 12 A nuclear type mitochondrial complex I deficiency that has material basis in homozygous or compound heterozygous mutation in TMEM126B on chromosome 11q14.1.

More information from OMIM: 618250 PS252010

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:

31 (show all 9)
# Description HPO Frequency HPO Source Accession
1 failure to thrive 31 HP:0001508
2 muscle weakness 31 HP:0001324
3 hypertrophic cardiomyopathy 31 HP:0001639
4 easy fatigability 31 HP:0003388
5 myalgia 31 HP:0003326
6 increased serum lactate 31 HP:0002151
7 hyperalaninemia 31 HP:0003348
8 stage 5 chronic kidney disease 31 HP:0003774
9 exercise intolerance 31 HP:0003546

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Muscle Soft Tissue:
muscle weakness
easy fatigability
myalgia
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 (Updated 20-May-2021)

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 1 Deficiency, Nuclear Type 29 29 TMEM126B

Anatomical Context for Mitochondrial Complex I Deficiency, Nuclear Type 29

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

40
Heart, Kidney

Publications for Mitochondrial Complex I Deficiency, Nuclear Type 29

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

# Title Authors PMID Year
1
Biallelic Mutations in TMEM126B Cause Severe Complex I Deficiency with a Variable Clinical Phenotype. 6 57
27374774 2016
2
Mutations in Complex I Assembly Factor TMEM126B Result in Muscle Weakness and Isolated Complex I Deficiency. 57 6
27374773 2016

Variations for Mitochondrial Complex I Deficiency, Nuclear Type 29

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

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TMEM126B NM_018480.5(TMEM126B):c.208C>T (p.Gln70Ter) SNV Pathogenic 253167 rs886037857 GRCh37: 11:85345134-85345134
GRCh38: 11:85634090-85634090
2 TMEM126B NM_018480.5(TMEM126B):c.401del (p.Asn134fs) Deletion Pathogenic 236208 rs886037835 GRCh37: 11:85346713-85346713
GRCh38: 11:85635669-85635669
3 TMEM126B NM_001350393.1(TMEM126B):c.172+103G>A SNV Pathogenic 253166 rs573006534 GRCh37: 11:85345323-85345323
GRCh38: 11:85634279-85634279
4 TMEM126B NM_018480.7(TMEM126B):c.137del (p.Ala46fs) Deletion Pathogenic 997635 GRCh37: 11:85342786-85342786
GRCh38: 11:85631742-85631742
5 TMEM126B NM_018480.5(TMEM126B):c.635G>T (p.Gly212Val) SNV Conflicting interpretations of pathogenicity 236209 rs141542003 GRCh37: 11:85347215-85347215
GRCh38: 11:85636171-85636171

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

72
# Symbol AA change Variation ID SNP ID
1 TMEM126B p.Gly212Val VAR_081465 rs141542003

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
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
Content
Loading form....