MCID: MLT167
MIFTS: 14

Multiple Mitochondrial Dysfunctions Syndrome 6

Categories: Genetic diseases, Neuronal diseases, Metabolic diseases, Rare diseases, Eye diseases

Aliases & Classifications for Multiple Mitochondrial Dysfunctions Syndrome 6

MalaCards integrated aliases for Multiple Mitochondrial Dysfunctions Syndrome 6:

Name: Multiple Mitochondrial Dysfunctions Syndrome 6 57 6
Mmds6 57

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
progressive disorder
death in childhood may occur
onset in the first years of life
episodic regression during illness


Classifications:



External Ids:

OMIM 57 617954

Summaries for Multiple Mitochondrial Dysfunctions Syndrome 6

OMIM : 57 Multiple mitochondrial dysfunctions syndrome-6 is an autosomal recessive severe neurodegenerative disorder with onset in early childhood. Affected individuals may have initial normal development, but show neurologic regression in the first year of life. They have hypotonia, inability to walk, poor speech, intellectual disability, and motor abnormalities, such as ataxia, dystonia, and spasticity. Some patients may die in childhood. Laboratory evidence indicates that the disorder results from mitochondrial dysfunction (summary by Vogtle et al., 2018). For a general description and a discussion of genetic heterogeneity of multiple mitochondrial dysfunctions syndrome, see MMDS1 (605711). (617954)

MalaCards based summary : Multiple Mitochondrial Dysfunctions Syndrome 6, is also known as mmds6. An important gene associated with Multiple Mitochondrial Dysfunctions Syndrome 6 is PMPCB (Peptidase, Mitochondrial Processing Beta Subunit).

Related Diseases for Multiple Mitochondrial Dysfunctions Syndrome 6

Symptoms & Phenotypes for Multiple Mitochondrial Dysfunctions Syndrome 6

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
intellectual disability
ataxia
spasticity
developmental regression
dysmetria
more
Head And Neck Head:
poor head control
microcephaly, acquired (in some patients)

Abdomen Gastrointestinal:
poor feeding

Head And Neck Eyes:
pale optic discs (in some patients)
loss of vision (in some patients)

Growth Other:
failure to thrive

Muscle Soft Tissue:
hypotonia

Head And Neck Ears:
hearing loss (in some patients)

Laboratory Abnormalities:
impaired mitochondrial function
decreased activities of mitochondrial respiratory enzymes, variable
increased serum lactate, variable


Clinical features from OMIM:

617954

Drugs & Therapeutics for Multiple Mitochondrial Dysfunctions Syndrome 6

Search Clinical Trials , NIH Clinical Center for Multiple Mitochondrial Dysfunctions Syndrome 6

Genetic Tests for Multiple Mitochondrial Dysfunctions Syndrome 6

Anatomical Context for Multiple Mitochondrial Dysfunctions Syndrome 6

Publications for Multiple Mitochondrial Dysfunctions Syndrome 6

Variations for Multiple Mitochondrial Dysfunctions Syndrome 6

ClinVar genetic disease variations for Multiple Mitochondrial Dysfunctions Syndrome 6:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 PMPCB NM_004279.2(PMPCB): c.523C> T (p.Arg175Cys) single nucleotide variant Pathogenic rs145596167 GRCh38 Chromosome 7, 103303907: 103303907
2 PMPCB NM_004279.2(PMPCB): c.523C> T (p.Arg175Cys) single nucleotide variant Pathogenic rs145596167 GRCh37 Chromosome 7, 102944354: 102944354
3 PMPCB NM_004279.2(PMPCB): c.601G> C (p.Ala201Pro) single nucleotide variant Pathogenic rs146343535 GRCh38 Chromosome 7, 103303985: 103303985
4 PMPCB NM_004279.2(PMPCB): c.601G> C (p.Ala201Pro) single nucleotide variant Pathogenic rs146343535 GRCh37 Chromosome 7, 102944432: 102944432
5 PMPCB NM_004279.2(PMPCB): c.524G> A (p.Arg175His) single nucleotide variant Pathogenic rs200188353 GRCh37 Chromosome 7, 102944355: 102944355
6 PMPCB NM_004279.2(PMPCB): c.524G> A (p.Arg175His) single nucleotide variant Pathogenic rs200188353 GRCh38 Chromosome 7, 103303908: 103303908
7 PMPCB NM_004279.2(PMPCB): c.530T> G (p.Val177Gly) single nucleotide variant Pathogenic GRCh38 Chromosome 7, 103303914: 103303914
8 PMPCB NM_004279.2(PMPCB): c.530T> G (p.Val177Gly) single nucleotide variant Pathogenic GRCh37 Chromosome 7, 102944361: 102944361
9 PMPCB NM_004279.2(PMPCB): c.1265T> C (p.Ile422Thr) single nucleotide variant Pathogenic GRCh37 Chromosome 7, 102952279: 102952279
10 PMPCB NM_004279.2(PMPCB): c.1265T> C (p.Ile422Thr) single nucleotide variant Pathogenic GRCh38 Chromosome 7, 103311832: 103311832

Expression for Multiple Mitochondrial Dysfunctions Syndrome 6

Search GEO for disease gene expression data for Multiple Mitochondrial Dysfunctions Syndrome 6.

Pathways for Multiple Mitochondrial Dysfunctions Syndrome 6

GO Terms for Multiple Mitochondrial Dysfunctions Syndrome 6

Sources for Multiple Mitochondrial Dysfunctions Syndrome 6

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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