MMDS6
MCID: MLT167
MIFTS: 20

Multiple Mitochondrial Dysfunctions Syndrome 6 (MMDS6)

Categories: Eye diseases, Genetic diseases, Metabolic diseases, Neuronal diseases, Rare 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 75 6
Mmds6 57 75

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


HPO:

32
multiple mitochondrial dysfunctions syndrome 6:
Onset and clinical course progressive


Classifications:



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). Affiliated tissues include eye, and related phenotypes are intellectual disability and seizures

UniProtKB/Swiss-Prot : 75 Multiple mitochondrial dysfunctions syndrome 6: An autosomal recessive, neurodegenerative disorder characterized by basal ganglia lesions, cerebellar atrophy, and neurologic regression in the first year of life. Common features include truncal hypotonia, lack of independent ambulation, poor speech, intellectual disability, and motor abnormalities, such as ataxia, dystonia, and spasticity.

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

Human phenotypes related to Multiple Mitochondrial Dysfunctions Syndrome 6:

32 (show all 16)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 32 HP:0001249
2 seizures 32 HP:0001250
3 spasticity 32 HP:0001257
4 developmental regression 32 HP:0002376
5 global developmental delay 32 HP:0001263
6 absent speech 32 HP:0001344
7 dysmetria 32 HP:0001310
8 dystonia 32 HP:0001332
9 increased serum lactate 32 HP:0002151
10 visual loss 32 very rare (1%) HP:0000572
11 optic disc pallor 32 very rare (1%) HP:0000543
12 cerebellar atrophy 32 HP:0001272
13 postnatal microcephaly 32 very rare (1%) HP:0005484
14 poor head control 32 HP:0002421
15 epileptic encephalopathy 32 very rare (1%) HP:0200134
16 leukoencephalopathy 32 HP:0002352

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

MalaCards organs/tissues related to Multiple Mitochondrial Dysfunctions Syndrome 6:

41
Eye

Publications for Multiple Mitochondrial Dysfunctions Syndrome 6

Variations for Multiple Mitochondrial Dysfunctions Syndrome 6

UniProtKB/Swiss-Prot genetic disease variations for Multiple Mitochondrial Dysfunctions Syndrome 6:

75
# Symbol AA change Variation ID SNP ID
1 PMPCB p.Arg175Cys VAR_080804 rs145596167
2 PMPCB p.Arg175His VAR_080805 rs200188353
3 PMPCB p.Val177Gly VAR_080806 rs143686627
4 PMPCB p.Ala201Pro VAR_080807 rs146343535
5 PMPCB p.Ile422Thr VAR_080808 rs146120036

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
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30 HGMD
31 HMDB
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44 MeSH
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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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