MC1DN21
MCID: MTC167
MIFTS: 23

Mitochondrial Complex I Deficiency, Nuclear Type 21 (MC1DN21)

Categories: Genetic diseases, Metabolic 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 57 72
Mc1dn21 57 12 72
Mitochondrial Complex 1 Deficiency, Nuclear Type 21 29 6
Nuclear Type Mitochondrial Complex I Deficiency 21 12

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

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


HPO:

31
mitochondrial complex i deficiency, nuclear type 21:
Inheritance autosomal recessive inheritance
Onset and clinical course variable expressivity


Classifications:



Summaries for Mitochondrial Complex I Deficiency, Nuclear Type 21

UniProtKB/Swiss-Prot : 72 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 cerebellum, and related phenotypes are generalized non-motor (absence) seizure and spasticity

Disease Ontology : 12 A nuclear type mitochondrial complex I deficiency that has material basis in homozygous or compound heterozygous mutation in NUBPL on chromosome 14q12.

More information from OMIM: 618242 PS252010

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:

31 (show all 16)
# Description HPO Frequency HPO Source Accession
1 generalized non-motor (absence) seizure 31 very rare (1%) HP:0002121
2 spasticity 31 HP:0001257
3 hyperreflexia 31 HP:0001347
4 nystagmus 31 HP:0000639
5 ataxia 31 HP:0001251
6 dysarthria 31 HP:0001260
7 global developmental delay 31 HP:0001263
8 myopathy 31 HP:0003198
9 strabismus 31 HP:0000486
10 growth delay 31 HP:0001510
11 abnormal cerebellum morphology 31 HP:0001317
12 babinski sign 31 HP:0003487
13 leukoencephalopathy 31 HP:0002352
14 leukodystrophy 31 HP:0002415
15 difficulty walking 31 HP:0002355
16 poor speech 31 HP:0002465

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
spasticity
hyperreflexia
ataxia
dysarthria
global developmental delay
more
Muscle Soft Tissue:
myopathy
hypotonia, axial
hypertonia, limb

Laboratory Abnormalities:
mitochondrial complex i deficiency in various tissues

Head And Neck Eyes:
nystagmus
strabismus

Growth Other:
poor growth

Clinical features from OMIM®:

618242 (Updated 20-May-2021)

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 1 Deficiency, Nuclear Type 21 29 NUBPL

Anatomical Context for Mitochondrial Complex I Deficiency, Nuclear Type 21

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

40
Cerebellum

Publications for Mitochondrial Complex I Deficiency, Nuclear Type 21

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

# Title Authors PMID Year
1
Pathogenic variants in NUBPL result in failure to assemble the matrix arm of complex I and cause a complex leukoencephalopathy with thalamic involvement. 57 6
31917109 2020
2
NUBPL mutations in patients with complex I deficiency and a distinct MRI pattern. 6 57
23553477 2013
3
High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency. 6 57
20818383 2010
4
Next-generation sequencing in molecular diagnosis: NUBPL mutations highlight the challenges of variant detection and interpretation. 6
22072591 2012

Variations for Mitochondrial Complex I Deficiency, Nuclear Type 21

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

6 (show all 13)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 overlap with 4 genes NC_000014.9:g.(31394019_31414809)_(31654321_31655889)del Deletion Pathogenic 929501 GRCh37: 14:31867179-32280475
GRCh38:
2 NUBPL NM_025152.3(NUBPL):c.667_668insCCTTGTGCTG (p.Glu223delinsAlaLeuCysTer) Insertion Pathogenic 50214 rs879255565 GRCh37: 14:32295888-32295889
GRCh38: 14:31826682-31826683
3 NUBPL NM_025152.3(NUBPL):c.313G>T (p.Asp105Tyr) SNV Pathogenic 50215 rs397515440 GRCh37: 14:32068516-32068516
GRCh38: 14:31599310-31599310
4 NUBPL NM_025152.3(NUBPL):c.693+1G>A SNV Pathogenic 50216 rs751631278 GRCh37: 14:32295921-32295921
GRCh38: 14:31826715-31826715
5 NUBPL NM_025152.3(NUBPL):c.579A>C (p.Leu193Phe) SNV Pathogenic 50217 rs552722349 GRCh37: 14:32257051-32257051
GRCh38: 14:31787845-31787845
6 NUBPL NM_025152.3(NUBPL):c.166G>A (p.Gly56Arg) SNV Pathogenic 7 rs200401432 GRCh37: 14:32031331-32031331
GRCh38: 14:31562125-31562125
7 NUBPL NM_025152.3(NUBPL):c.311T>C (p.Leu104Pro) SNV Pathogenic 209179 rs201430951 GRCh37: 14:32068514-32068514
GRCh38: 14:31599308-31599308
8 NUBPL NM_025152.3(NUBPL):c.726C>G (p.Phe242Leu) SNV Pathogenic 635348 rs767543623 GRCh37: 14:32315709-32315709
GRCh38: 14:31846503-31846503
9 NUBPL NM_025152.3(NUBPL):c.351G>A (p.Met117Ile) SNV Pathogenic 915894 GRCh37: 14:32068554-32068554
GRCh38: 14:31599348-31599348
10 NUBPL NM_025152.3(NUBPL):c.815-27T>C SNV Likely pathogenic 50317 rs118161496 GRCh37: 14:32319298-32319298
GRCh38: 14:31850092-31850092
11 NUBPL NM_025152.3(NUBPL):c.591_595del (p.Gln197fs) Deletion Uncertain significance 931860 GRCh37: 14:32257062-32257066
GRCh38: 14:31787856-31787860
12 NUBPL NM_025152.3(NUBPL):c.265G>A (p.Ala89Thr) SNV Uncertain significance 638497 rs1595283708 GRCh37: 14:32034228-32034228
GRCh38: 14:31565022-31565022
13 NUBPL NM_025152.3(NUBPL):c.625A>T (p.Thr209Ser) SNV Uncertain significance 638498 rs554414788 GRCh37: 14:32295852-32295852
GRCh38: 14:31826646-31826646

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

72
# Symbol AA change Variation ID SNP ID
1 NUBPL p.Asp105Tyr VAR_069767 rs397515440
2 NUBPL p.Leu193Phe VAR_069768 rs552722349

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

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....