MC1DN21
MCID: MTC167
MIFTS: 20

Mitochondrial Complex I Deficiency, Nuclear Type 21 (MC1DN21)

Categories: Genetic diseases

Aliases & Classifications for Mitochondrial Complex I Deficiency, Nuclear Type 21

MalaCards integrated aliases for Mitochondrial Complex I Deficiency, Nuclear Type 21:

Name: Mitochondrial Complex I Deficiency, Nuclear Type 21 58 76 30 6
Mc1dn21 58 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
variable severity
variable progression
some patients may show neurologic regression


HPO:

33
mitochondrial complex i deficiency, nuclear type 21:
Onset and clinical course variable expressivity


Classifications:



Summaries for Mitochondrial Complex I Deficiency, Nuclear Type 21

UniProtKB/Swiss-Prot : 76 Mitochondrial complex I deficiency, nuclear type 21: 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. MC1DN21 transmission pattern is consistent with autosomal recessive inheritance.

MalaCards based summary : Mitochondrial Complex I Deficiency, Nuclear Type 21, is also known as mc1dn21. An important gene associated with Mitochondrial Complex I Deficiency, Nuclear Type 21 is NUBPL (Nucleotide Binding Protein Like). Affiliated tissues include liver and cerebellum, and related phenotypes are absence seizure and nystagmus

Description from OMIM: 618242

Related Diseases for Mitochondrial Complex I Deficiency, Nuclear Type 21

Symptoms & Phenotypes for Mitochondrial Complex I Deficiency, Nuclear Type 21

Human phenotypes related to Mitochondrial Complex I Deficiency, Nuclear Type 21:

33 (show all 15)
# Description HPO Frequency HPO Source Accession
1 absence seizure 33 very rare (1%) HP:0002121
2 nystagmus 33 HP:0000639
3 ataxia 33 HP:0001251
4 spasticity 33 HP:0001257
5 dysarthria 33 HP:0001260
6 hyperreflexia 33 HP:0001347
7 global developmental delay 33 HP:0001263
8 myopathy 33 HP:0003198
9 strabismus 33 HP:0000486
10 babinski sign 33 HP:0003487
11 difficulty walking 33 HP:0002355
12 leukodystrophy 33 HP:0002415
13 poor speech 33 HP:0002465
14 leukoencephalopathy 33 HP:0002352
15 abnormal cerebellum morphology 33 HP:0001317

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
nystagmus
strabismus

Muscle Soft Tissue:
myopathy
hypotonia, axial
hypertonia, limb

Laboratory Abnormalities:
mitochondrial complex i deficiency in various tissues

Neurologic Central Nervous System:
ataxia
spasticity
dysarthria
hyperreflexia
global developmental delay
more
Growth Other:
poor growth

Clinical features from OMIM:

618242

Drugs & Therapeutics for Mitochondrial Complex I Deficiency, Nuclear Type 21

Search Clinical Trials , NIH Clinical Center for Mitochondrial Complex I Deficiency, Nuclear Type 21

Genetic Tests for Mitochondrial Complex I Deficiency, Nuclear Type 21

Genetic tests related to Mitochondrial Complex I Deficiency, Nuclear Type 21:

# Genetic test Affiliating Genes
1 Mitochondrial Complex I Deficiency, Nuclear Type 21 30 NUBPL

Anatomical Context for Mitochondrial Complex I Deficiency, Nuclear Type 21

MalaCards organs/tissues related to Mitochondrial Complex I Deficiency, Nuclear Type 21:

42
Liver, Cerebellum

Publications for Mitochondrial Complex I Deficiency, Nuclear Type 21

Articles related to Mitochondrial Complex I Deficiency, Nuclear Type 21:

# Title Authors Year
1
NUBPL mutations in patients with complex I deficiency and a distinct MRI pattern. ( 23553477 )
2013
2
Next-generation sequencing in molecular diagnosis: NUBPL mutations highlight the challenges of variant detection and interpretation. ( 22072591 )
2012
3
High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency. ( 20818383 )
2010

Variations for Mitochondrial Complex I Deficiency, Nuclear Type 21

UniProtKB/Swiss-Prot genetic disease variations for Mitochondrial Complex I Deficiency, Nuclear Type 21:

76
# Symbol AA change Variation ID SNP ID
1 NUBPL p.Asp105Tyr VAR_069767 rs397515440
2 NUBPL p.Leu193Phe VAR_069768 rs552722349

ClinVar genetic disease variations for Mitochondrial Complex I Deficiency, Nuclear Type 21:

6 (show all 15)
# Gene Variation Type Significance SNP ID Assembly Location
1 NUBPL NM_025152.2(NUBPL): c.166G> A (p.Gly56Arg) single nucleotide variant Uncertain significance rs200401432 GRCh37 Chromosome 14, 32031331: 32031331
2 NUBPL NM_025152.2(NUBPL): c.166G> A (p.Gly56Arg) single nucleotide variant Uncertain significance rs200401432 GRCh38 Chromosome 14, 31562125: 31562125
3 NUBPL NC_000014.9 deletion Pathogenic NCBI36 Chromosome 14, 30932976: 31194846
4 NUBPL NC_000014.9 deletion Pathogenic GRCh37 Chromosome 14, 31863225: 32125095
5 NUBPL NC_000014.9 deletion Pathogenic GRCh38 Chromosome 14, 31394019: 31655889
6 NUBPL NM_025152.2(NUBPL): c.667_668insCCTTGTGCTG (p.Glu223Alafs) insertion Pathogenic rs879255565 GRCh37 Chromosome 14, 32295894: 32295895
7 NUBPL NM_025152.2(NUBPL): c.667_668insCCTTGTGCTG (p.Glu223Alafs) insertion Pathogenic rs879255565 GRCh38 Chromosome 14, 31826688: 31826689
8 NUBPL NM_025152.2(NUBPL): c.313G> T (p.Asp105Tyr) single nucleotide variant Likely pathogenic rs397515440 GRCh37 Chromosome 14, 32068516: 32068516
9 NUBPL NM_025152.2(NUBPL): c.313G> T (p.Asp105Tyr) single nucleotide variant Likely pathogenic rs397515440 GRCh38 Chromosome 14, 31599310: 31599310
10 NUBPL NM_025152.2(NUBPL): c.693+1G> A single nucleotide variant Pathogenic rs751631278 GRCh37 Chromosome 14, 32295921: 32295921
11 NUBPL NM_025152.2(NUBPL): c.693+1G> A single nucleotide variant Pathogenic rs751631278 GRCh38 Chromosome 14, 31826715: 31826715
12 NUBPL NM_025152.2(NUBPL): c.579A> C (p.Leu193Phe) single nucleotide variant Pathogenic rs552722349 GRCh37 Chromosome 14, 32257051: 32257051
13 NUBPL NM_025152.2(NUBPL): c.579A> C (p.Leu193Phe) single nucleotide variant Pathogenic rs552722349 GRCh38 Chromosome 14, 31787845: 31787845
14 NUBPL NM_025152.2(NUBPL): c.815-27T> C single nucleotide variant Conflicting interpretations of pathogenicity rs118161496 GRCh37 Chromosome 14, 32319298: 32319298
15 NUBPL NM_025152.2(NUBPL): c.815-27T> C single nucleotide variant Conflicting interpretations of pathogenicity rs118161496 GRCh38 Chromosome 14, 31850092: 31850092

Expression for Mitochondrial Complex I Deficiency, Nuclear Type 21

Search GEO for disease gene expression data for Mitochondrial Complex I Deficiency, Nuclear Type 21.

Pathways for Mitochondrial Complex I Deficiency, Nuclear Type 21

GO Terms for Mitochondrial Complex I Deficiency, Nuclear Type 21

Sources for Mitochondrial Complex I Deficiency, Nuclear Type 21

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