MC1DN34
MCID: MTC203
MIFTS: 19

Mitochondrial Complex I Deficiency, Nuclear Type 34 (MC1DN34)

Categories: Genetic diseases

Aliases & Classifications for Mitochondrial Complex I Deficiency, Nuclear Type 34

MalaCards integrated aliases for Mitochondrial Complex I Deficiency, Nuclear Type 34:

Name: Mitochondrial Complex I Deficiency, Nuclear Type 34 56 73
Mc1dn34 56 73
Mitochondrial Complex 1 Deficiency, Nuclear Type 34 6

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
early death may occur


HPO:

31
mitochondrial complex i deficiency, nuclear type 34:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:



External Ids:

OMIM 56 618776
OMIM Phenotypic Series 56 PS252010
MeSH 43 D028361
MedGen 41 CN263285

Summaries for Mitochondrial Complex I Deficiency, Nuclear Type 34

UniProtKB/Swiss-Prot : 73 Mitochondrial complex I deficiency, nuclear type 34: 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. MC1DN34 transmission pattern is consistent with autosomal recessive inheritance.

MalaCards based summary : Mitochondrial Complex I Deficiency, Nuclear Type 34, is also known as mc1dn34. An important gene associated with Mitochondrial Complex I Deficiency, Nuclear Type 34 is NDUFAF8 (NADH:Ubiquinone Oxidoreductase Complex Assembly Factor 8). Affiliated tissues include liver, brain and skeletal muscle, and related phenotypes are intrauterine growth retardation and infantile spasms

More information from OMIM: 618776 PS252010

Related Diseases for Mitochondrial Complex I Deficiency, Nuclear Type 34

Symptoms & Phenotypes for Mitochondrial Complex I Deficiency, Nuclear Type 34

Human phenotypes related to Mitochondrial Complex I Deficiency, Nuclear Type 34:

31 (show all 11)
# Description HPO Frequency HPO Source Accession
1 intrauterine growth retardation 31 very rare (1%) HP:0001511
2 infantile spasms 31 very rare (1%) HP:0012469
3 lactic acidosis 31 very rare (1%) HP:0003128
4 hypsarrhythmia 31 very rare (1%) HP:0002521
5 optic atrophy 31 HP:0000648
6 feeding difficulties in infancy 31 HP:0008872
7 decreased activity of mitochondrial complex i 31 HP:0011923
8 optic disc pallor 31 HP:0000543
9 respiratory failure requiring assisted ventilation 31 HP:0004887
10 metabolic acidosis 31 HP:0001942
11 abnormal diffusion weighted cerebral mri morphology 31 HP:0032615

Symptoms via clinical synopsis from OMIM:

56
Abdomen Gastrointestinal:
dysphagia
poor feeding
tube feeding

Respiratory:
respiratory insufficiency
apnea
mechanical ventilation

Metabolic Features:
lactic acidosis
metabolic acidosis

Muscle Soft Tissue:
hypotonia

Cardiovascular Vascular:
hypertensive crises

Growth Other:
intrauterine growth retardation

Neurologic Central Nervous System:
motor delay
encephalopathy
hypotonia
developmental delay
hippocampal abnormalities
more
Hematology:
normochromic anemia

Head And Neck Eyes:
optic nerve atrophy
poor vision
pale optic discs

Laboratory Abnormalities:
isolated mitochondrial complex i deficiency in fibroblasts and skeletal muscle

Clinical features from OMIM:

618776

Drugs & Therapeutics for Mitochondrial Complex I Deficiency, Nuclear Type 34

Search Clinical Trials , NIH Clinical Center for Mitochondrial Complex I Deficiency, Nuclear Type 34

Genetic Tests for Mitochondrial Complex I Deficiency, Nuclear Type 34

Anatomical Context for Mitochondrial Complex I Deficiency, Nuclear Type 34

MalaCards organs/tissues related to Mitochondrial Complex I Deficiency, Nuclear Type 34:

40
Liver, Brain, Skeletal Muscle, Thalamus

Publications for Mitochondrial Complex I Deficiency, Nuclear Type 34

Articles related to Mitochondrial Complex I Deficiency, Nuclear Type 34:

# Title Authors PMID Year
1
Pathogenic Bi-allelic Mutations in NDUFAF8 Cause Leigh Syndrome with an Isolated Complex I Deficiency. 56 6
31866046 2020
2
Mitochondrial Protein Interaction Mapping Identifies Regulators of Respiratory Chain Function. 56
27499296 2016

Variations for Mitochondrial Complex I Deficiency, Nuclear Type 34

ClinVar genetic disease variations for Mitochondrial Complex I Deficiency, Nuclear Type 34:

6 ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 NDUFAF8 NM_001086521.2(NDUFAF8):c.1A>G (p.Met1Val)SNV Pathogenic 691643 17:79213164-79213164 17:81239364-81239364
2 NDUFAF8 NM_001086521.2(NDUFAF8):c.45_52dup (p.Phe18fs)duplication Pathogenic 691644 17:79213202-79213203 17:81239402-81239403
3 NDUFAF8 NM_001086521.2(NDUFAF8):c.195+271C>TSNV Pathogenic 691642 17:79213749-79213749 17:81239949-81239949
4 NDUFAF8 NM_001086521.2(NDUFAF8):c.165C>G (p.Phe55Leu)SNV Likely pathogenic 691641 17:79213448-79213448 17:81239648-81239648

Expression for Mitochondrial Complex I Deficiency, Nuclear Type 34

Search GEO for disease gene expression data for Mitochondrial Complex I Deficiency, Nuclear Type 34.

Pathways for Mitochondrial Complex I Deficiency, Nuclear Type 34

GO Terms for Mitochondrial Complex I Deficiency, Nuclear Type 34

Sources for Mitochondrial Complex I Deficiency, Nuclear Type 34

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
37 LifeMap
39 LOVD
41 MedGen
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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