MC1DN11
MCID: MTC159
MIFTS: 19

Mitochondrial Complex I Deficiency, Nuclear Type 11 (MC1DN11)

Categories: Genetic diseases

Aliases & Classifications for Mitochondrial Complex I Deficiency, Nuclear Type 11

MalaCards integrated aliases for Mitochondrial Complex I Deficiency, Nuclear Type 11:

Name: Mitochondrial Complex I Deficiency, Nuclear Type 11 58 76 30 6
Mc1dn11 58 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
variable severity
patient a was alive at 20 years of age
patient b died in early infancy
symptoms may worsen with concurrent infection
two unrelated patients have been reported (last curated january 2019)


HPO:

33
mitochondrial complex i deficiency, nuclear type 11:
Onset and clinical course variable expressivity infantile onset


Classifications:



Summaries for Mitochondrial Complex I Deficiency, Nuclear Type 11

UniProtKB/Swiss-Prot : 76 Mitochondrial complex I deficiency, nuclear type 11: 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. MC1DN11 transmission pattern is consistent with autosomal recessive inheritance.

MalaCards based summary : Mitochondrial Complex I Deficiency, Nuclear Type 11, is also known as mc1dn11. An important gene associated with Mitochondrial Complex I Deficiency, Nuclear Type 11 is NDUFAF1 (NADH:Ubiquinone Oxidoreductase Complex Assembly Factor 1). Affiliated tissues include liver and heart, and related phenotypes are scoliosis and kyphosis

Description from OMIM: 618234

Related Diseases for Mitochondrial Complex I Deficiency, Nuclear Type 11

Symptoms & Phenotypes for Mitochondrial Complex I Deficiency, Nuclear Type 11

Human phenotypes related to Mitochondrial Complex I Deficiency, Nuclear Type 11:

33 (show all 11)
# Description HPO Frequency HPO Source Accession
1 scoliosis 33 HP:0002650
2 kyphosis 33 HP:0002808
3 global developmental delay 33 HP:0001263
4 hepatomegaly 33 HP:0002240
5 retinopathy 33 HP:0000488
6 myopathy 33 HP:0003198
7 hypertrophic cardiomyopathy 33 HP:0001639
8 congestive heart failure 33 HP:0001635
9 increased serum lactate 33 HP:0002151
10 encephalopathy 33 HP:0001298
11 macrovesicular hepatic steatosis 33 HP:0001403

Symptoms via clinical synopsis from OMIM:

58
Growth Other:
failure to thrive

Cardiovascular Heart:
hypertrophic cardiomyopathy
cardiac insufficiency

Metabolic Features:
metabolic acidosis

Head And Neck Eyes:
cortical visual dysfunction (patient a)
retinopathy (patient a)

Skeletal:
osteoporosis (patient a)

Muscle Soft Tissue:
myopathy
abnormal mitochondria seen on muscle biopsy
lipid accumulation

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

Neurologic Central Nervous System:
encephalopathy (patient a)
developmental delay (patient a)
impaired intellectual development (patient a)

Abdomen Liver:
macrovesicular steatosis (patient b)
hepatomegaly (patient b)

Skeletal Spine:
kyphosis (patient a)
scoliosis (patient a)

Clinical features from OMIM:

618234

Drugs & Therapeutics for Mitochondrial Complex I Deficiency, Nuclear Type 11

Search Clinical Trials , NIH Clinical Center for Mitochondrial Complex I Deficiency, Nuclear Type 11

Genetic Tests for Mitochondrial Complex I Deficiency, Nuclear Type 11

Genetic tests related to Mitochondrial Complex I Deficiency, Nuclear Type 11:

# Genetic test Affiliating Genes
1 Mitochondrial Complex I Deficiency, Nuclear Type 11 30 NDUFAF1

Anatomical Context for Mitochondrial Complex I Deficiency, Nuclear Type 11

MalaCards organs/tissues related to Mitochondrial Complex I Deficiency, Nuclear Type 11:

42
Liver, Heart

Publications for Mitochondrial Complex I Deficiency, Nuclear Type 11

Articles related to Mitochondrial Complex I Deficiency, Nuclear Type 11:

# Title Authors Year
1
Mutations in the mitochondrial complex I assembly factor NDUFAF1 cause fatal infantile hypertrophic cardiomyopathy. ( 21931170 )
2011
2
Human CIA30 is involved in the early assembly of mitochondrial complex I and mutations in its gene cause disease. ( 17557076 )
2007

Variations for Mitochondrial Complex I Deficiency, Nuclear Type 11

UniProtKB/Swiss-Prot genetic disease variations for Mitochondrial Complex I Deficiency, Nuclear Type 11:

76
# Symbol AA change Variation ID SNP ID
1 NDUFAF1 p.Thr207Pro VAR_081445 rs387906956
2 NDUFAF1 p.Arg211Cys VAR_081446 rs387906958
3 NDUFAF1 p.Gly245Arg VAR_081447 rs376344575
4 NDUFAF1 p.Lys253Arg VAR_081449 rs387906957

ClinVar genetic disease variations for Mitochondrial Complex I Deficiency, Nuclear Type 11:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 NDUFAF1 NM_016013.3(NDUFAF1): c.619A> C (p.Thr207Pro) single nucleotide variant Pathogenic rs387906956 GRCh37 Chromosome 15, 41687197: 41687197
2 NDUFAF1 NM_016013.3(NDUFAF1): c.619A> C (p.Thr207Pro) single nucleotide variant Pathogenic rs387906956 GRCh38 Chromosome 15, 41394999: 41394999
3 NDUFAF1 NM_016013.3(NDUFAF1): c.758A> G (p.Lys253Arg) single nucleotide variant Pathogenic rs387906957 GRCh37 Chromosome 15, 41687058: 41687058
4 NDUFAF1 NM_016013.3(NDUFAF1): c.758A> G (p.Lys253Arg) single nucleotide variant Pathogenic rs387906957 GRCh38 Chromosome 15, 41394860: 41394860
5 NDUFAF1 NM_016013.3(NDUFAF1): c.631C> T (p.Arg211Cys) single nucleotide variant Pathogenic rs387906958 GRCh37 Chromosome 15, 41687185: 41687185
6 NDUFAF1 NM_016013.3(NDUFAF1): c.631C> T (p.Arg211Cys) single nucleotide variant Pathogenic rs387906958 GRCh38 Chromosome 15, 41394987: 41394987
7 NDUFAF1 NM_016013.3(NDUFAF1): c.733G> A (p.Gly245Arg) single nucleotide variant Pathogenic GRCh38 Chromosome 15, 41394885: 41394885
8 NDUFAF1 NM_016013.3(NDUFAF1): c.733G> A (p.Gly245Arg) single nucleotide variant Pathogenic GRCh37 Chromosome 15, 41687083: 41687083

Expression for Mitochondrial Complex I Deficiency, Nuclear Type 11

Search GEO for disease gene expression data for Mitochondrial Complex I Deficiency, Nuclear Type 11.

Pathways for Mitochondrial Complex I Deficiency, Nuclear Type 11

GO Terms for Mitochondrial Complex I Deficiency, Nuclear Type 11

Sources for Mitochondrial Complex I Deficiency, Nuclear Type 11

3 CDC
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70 SNOMED-CT via HPO
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75 UMLS via Orphanet
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