MC1DN11
MCID: MTC159
MIFTS: 21

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 56 73
Mitochondrial Complex 1 Deficiency, Nuclear Type 11 29 6
Mc1dn11 56 73

Characteristics:

OMIM:

56
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:

31
mitochondrial complex i deficiency, nuclear type 11:
Inheritance autosomal recessive inheritance
Onset and clinical course variable expressivity infantile onset


Classifications:



Summaries for Mitochondrial Complex I Deficiency, Nuclear Type 11

UniProtKB/Swiss-Prot : 73 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 mitochondrial complex 1 deficiency, nuclear type 11. 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 global developmental delay and hepatomegaly

More information from OMIM: 618234 PS252010

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:

31 (show all 14)
# Description HPO Frequency HPO Source Accession
1 global developmental delay 31 HP:0001263
2 hepatomegaly 31 HP:0002240
3 scoliosis 31 HP:0002650
4 kyphosis 31 HP:0002808
5 failure to thrive 31 HP:0001508
6 myopathy 31 HP:0003198
7 retinopathy 31 HP:0000488
8 hypertrophic cardiomyopathy 31 HP:0001639
9 congestive heart failure 31 HP:0001635
10 osteoporosis 31 HP:0000939
11 increased serum lactate 31 HP:0002151
12 encephalopathy 31 HP:0001298
13 metabolic acidosis 31 HP:0001942
14 macrovesicular hepatic steatosis 31 HP:0001403

Symptoms via clinical synopsis from OMIM:

56
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
lipid accumulation
abnormal mitochondria seen on muscle biopsy

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 1 Deficiency, Nuclear Type 11 29 NDUFAF1

Anatomical Context for Mitochondrial Complex I Deficiency, Nuclear Type 11

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

40
Liver, Heart

Publications for Mitochondrial Complex I Deficiency, Nuclear Type 11

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

# Title Authors PMID Year
1
Mutations in the mitochondrial complex I assembly factor NDUFAF1 cause fatal infantile hypertrophic cardiomyopathy. 6 56
21931170 2011
2
Human CIA30 is involved in the early assembly of mitochondrial complex I and mutations in its gene cause disease. 56 6
17557076 2007

Variations for Mitochondrial Complex I Deficiency, Nuclear Type 11

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

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 NDUFAF1 NM_016013.4(NDUFAF1):c.619A>C (p.Thr207Pro)SNV Pathogenic 30622 rs387906956 15:41687197-41687197 15:41394999-41394999
2 NDUFAF1 NM_016013.4(NDUFAF1):c.758A>G (p.Lys253Arg)SNV Pathogenic 30623 rs387906957 15:41687058-41687058 15:41394860-41394860
3 NDUFAF1 NM_016013.4(NDUFAF1):c.631C>T (p.Arg211Cys)SNV Pathogenic 30624 rs387906958 15:41687185-41687185 15:41394987-41394987
4 NDUFAF1 NM_016013.4(NDUFAF1):c.733G>A (p.Gly245Arg)SNV Pathogenic 30625 rs376344575 15:41687083-41687083 15:41394885-41394885
5 NDUFAF1 NM_016013.4(NDUFAF1):c.526G>A (p.Glu176Lys)SNV Benign/Likely benign 138454 rs35227875 15:41688732-41688732 15:41396534-41396534

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

73
# 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

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
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
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39 LOVD
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43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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