MCID: MTC167
MIFTS: 9

Mitochondrial Complex I Deficiency, Nuclear Type 21

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 6
Mc1dn21 58

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

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


Classifications:



External Ids:

OMIM 58 618242

Summaries for Mitochondrial Complex I Deficiency, Nuclear Type 21

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).

Description from OMIM: 618242

Related Diseases for Mitochondrial Complex I Deficiency, Nuclear Type 21

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

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

Anatomical Context for Mitochondrial Complex I Deficiency, Nuclear Type 21

Publications for Mitochondrial Complex I Deficiency, Nuclear Type 21

Variations for Mitochondrial Complex I Deficiency, Nuclear Type 21

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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63 PubMed
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70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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