MC1DN36
MCID: MTC230
MIFTS: 22

Mitochondrial Complex I Deficiency, Nuclear Type 36 (MC1DN36)

Categories: Eye diseases, Genetic diseases

Aliases & Classifications for Mitochondrial Complex I Deficiency, Nuclear Type 36

MalaCards integrated aliases for Mitochondrial Complex I Deficiency, Nuclear Type 36:

Name: Mitochondrial Complex I Deficiency, Nuclear Type 36 57 6
Mc1dn36 57

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
early death may occur
onset at birth or in early childhood
variable severity and manifestations
clinical regression during infection
two unrelated consanguineous families have been reported (last curated january 2021)


Classifications:



External Ids:

OMIM® 57 619170
OMIM Phenotypic Series 57 PS252010

Summaries for Mitochondrial Complex I Deficiency, Nuclear Type 36

OMIM® : 57 Mitochondrial complex I deficiency nuclear type 36 (MC1DN36) is an autosomal recessive metabolic disorder characterized by global developmental delay, hypotonia, and failure to thrive apparent from infancy or early childhood. Affected individuals usually do not acquire ambulation, show progressive spasticity, and have impaired intellectual development with absent speech. More variable features may include pale optic discs, poor eye contact, seizures, and congenital heart defects. Laboratory studies show increased serum lactate; metabolic acidosis may occur during stress or infection. Brain imaging shows T2-weighted abnormalities in the basal ganglia and brainstem, consistent with a clinical diagnosis of Leigh syndrome (see 256000). Patient tissue showed isolated mitochondrial complex I deficiency. Death may occur in childhood (Alahmad et al., 2020). For a discussion of genetic heterogeneity of mitochondrial complex I deficiency, see 252010. (619170) (Updated 05-Apr-2021)

MalaCards based summary : Mitochondrial Complex I Deficiency, Nuclear Type 36, also known as mc1dn36, is related to mitochondrial disorders and leigh syndrome. An important gene associated with Mitochondrial Complex I Deficiency, Nuclear Type 36 is NDUFC2 (NADH:Ubiquinone Oxidoreductase Subunit C2), and among its related pathways/superpathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and Prion disease. Affiliated tissues include eye, brain and skeletal muscle.

Related Diseases for Mitochondrial Complex I Deficiency, Nuclear Type 36

Diseases related to Mitochondrial Complex I Deficiency, Nuclear Type 36 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 mitochondrial disorders 9.6 NDUFC2-KCTD14 NDUFC2
2 leigh syndrome 9.5 NDUFC2-KCTD14 NDUFC2

Symptoms & Phenotypes for Mitochondrial Complex I Deficiency, Nuclear Type 36

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
spasticity
hyperreflexia
global developmental delay
absent speech
central hypotonia
more
Head And Neck Head:
microcephaly

Head And Neck Eyes:
poor eye contact
pale optic discs
decreased visual evoked potentials

Muscle Soft Tissue:
muscle atrophy

Head And Neck Face:
dysmorphic facial features

Head And Neck Ears:
decreased auditory evoked potentials

Growth Other:
failure to thrive

Laboratory Abnormalities:
increased serum lactate
increased plasma alanine
isolated mitochondrial complex i deficiency in fibroblasts and skeletal muscle
urinary excretion of fumaric acid

Metabolic Features:
lactic acidosis

Abdomen Gastrointestinal:
tube feeding

Cardiovascular Heart:
ventricular septal defect (patient a)
cardiomegaly (patient a)

Cardiovascular Vascular:
pulmonary artery stenosis (patient a)

Clinical features from OMIM®:

619170 (Updated 05-Apr-2021)

Drugs & Therapeutics for Mitochondrial Complex I Deficiency, Nuclear Type 36

Search Clinical Trials , NIH Clinical Center for Mitochondrial Complex I Deficiency, Nuclear Type 36

Genetic Tests for Mitochondrial Complex I Deficiency, Nuclear Type 36

Anatomical Context for Mitochondrial Complex I Deficiency, Nuclear Type 36

MalaCards organs/tissues related to Mitochondrial Complex I Deficiency, Nuclear Type 36:

40
Eye, Brain, Skeletal Muscle

Publications for Mitochondrial Complex I Deficiency, Nuclear Type 36

Articles related to Mitochondrial Complex I Deficiency, Nuclear Type 36:

# Title Authors PMID Year
1
Bi-allelic pathogenic variants in NDUFC2 cause early-onset Leigh syndrome and stalled biogenesis of complex I. 57 6
32969598 2020

Variations for Mitochondrial Complex I Deficiency, Nuclear Type 36

ClinVar genetic disease variations for Mitochondrial Complex I Deficiency, Nuclear Type 36:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 NDUFC2 , NDUFC2-KCTD14 NM_004549.6(NDUFC2):c.346_*7del (p.His116fs) Deletion Pathogenic 813296 GRCh37: 11:77781026-77781047
GRCh38: 11:78069980-78070001
2 NDUFC2 , NDUFC2-KCTD14 NM_004549.6(NDUFC2):c.173A>T (p.His58Leu) SNV Pathogenic 813295 GRCh37: 11:77784181-77784181
GRCh38: 11:78073135-78073135

Expression for Mitochondrial Complex I Deficiency, Nuclear Type 36

Search GEO for disease gene expression data for Mitochondrial Complex I Deficiency, Nuclear Type 36.

Pathways for Mitochondrial Complex I Deficiency, Nuclear Type 36

GO Terms for Mitochondrial Complex I Deficiency, Nuclear Type 36

Cellular components related to Mitochondrial Complex I Deficiency, Nuclear Type 36 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrial inner membrane GO:0005743 9.16 NDUFC2-KCTD14 NDUFC2
2 respiratory chain GO:0070469 8.96 NDUFC2-KCTD14 NDUFC2
3 mitochondrial respiratory chain complex I GO:0005747 8.62 NDUFC2-KCTD14 NDUFC2

Biological processes related to Mitochondrial Complex I Deficiency, Nuclear Type 36 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 8.96 NDUFC2-KCTD14 NDUFC2
2 mitochondrial electron transport, NADH to ubiquinone GO:0006120 8.62 NDUFC2-KCTD14 NDUFC2

Molecular functions related to Mitochondrial Complex I Deficiency, Nuclear Type 36 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 NADH dehydrogenase (ubiquinone) activity GO:0008137 8.62 NDUFC2-KCTD14 NDUFC2

Sources for Mitochondrial Complex I Deficiency, Nuclear Type 36

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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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