MMDS6
MCID: MLT167
MIFTS: 23

Multiple Mitochondrial Dysfunctions Syndrome 6 (MMDS6)

Categories: Eye diseases, Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases, Respiratory 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 12 72 29 6
Mmds6 57 72
Multiple Mitochondrial Dysfunctions Syndrome Type 6 58
Pmpcb Deficiency 58

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

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


HPO:

31
multiple mitochondrial dysfunctions syndrome 6:
Inheritance autosomal recessive inheritance
Onset and clinical course progressive


Classifications:

Orphanet: 58  
Rare neurological diseases
Inborn errors of metabolism


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) (Updated 05-Apr-2021)

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 Subunit Beta). Related phenotypes are hearing impairment and optic disc pallor

Disease Ontology : 12 A multiple mitochondrial dysfunctions syndrome that is characterized by hypotonia, inability to walk, poor speech, intellectual disability, and motor abnormalities, such as ataxia, dystonia, and spasticity with onset in early childhood and has material basis in autosomal recessive homozygous or compound heterozygous mutation in the PMPCB on chromosome 7q22.

UniProtKB/Swiss-Prot : 72 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

Human phenotypes related to Multiple Mitochondrial Dysfunctions Syndrome 6:

31 (show all 20)
# Description HPO Frequency HPO Source Accession
1 hearing impairment 31 very rare (1%) HP:0000365
2 optic disc pallor 31 very rare (1%) HP:0000543
3 postnatal microcephaly 31 very rare (1%) HP:0005484
4 visual loss 31 very rare (1%) HP:0000572
5 epileptic encephalopathy 31 very rare (1%) HP:0200134
6 intellectual disability 31 HP:0001249
7 spasticity 31 HP:0001257
8 failure to thrive 31 HP:0001508
9 developmental regression 31 HP:0002376
10 global developmental delay 31 HP:0001263
11 absent speech 31 HP:0001344
12 increased serum lactate 31 HP:0002151
13 dysmetria 31 HP:0001310
14 dystonia 31 HP:0001332
15 leukoencephalopathy 31 HP:0002352
16 poor head control 31 HP:0002421
17 feeding difficulties 31 HP:0011968
18 cerebellar atrophy 31 HP:0001272
19 generalized hypotonia 31 HP:0001290
20 seizure 31 HP:0001250

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
intellectual disability
spasticity
ataxia
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:
increased serum lactate, variable
impaired mitochondrial function
decreased activities of mitochondrial respiratory enzymes, variable

Clinical features from OMIM®:

617954 (Updated 05-Apr-2021)

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

Genetic tests related to Multiple Mitochondrial Dysfunctions Syndrome 6:

# Genetic test Affiliating Genes
1 Multiple Mitochondrial Dysfunctions Syndrome 6 29 PMPCB

Anatomical Context for Multiple Mitochondrial Dysfunctions Syndrome 6

Publications for Multiple Mitochondrial Dysfunctions Syndrome 6

Articles related to Multiple Mitochondrial Dysfunctions Syndrome 6:

# Title Authors PMID Year
1
Mutations in PMPCB Encoding the Catalytic Subunit of the Mitochondrial Presequence Protease Cause Neurodegeneration in Early Childhood. 6 57
29576218 2018

Variations for Multiple Mitochondrial Dysfunctions Syndrome 6

ClinVar genetic disease variations for Multiple Mitochondrial Dysfunctions Syndrome 6:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PMPCB NM_004279.3(PMPCB):c.523C>T (p.Arg175Cys) SNV Pathogenic 523138 rs145596167 GRCh37: 7:102944354-102944354
GRCh38: 7:103303907-103303907
2 PMPCB NM_004279.3(PMPCB):c.601G>C (p.Ala201Pro) SNV Pathogenic 523139 rs146343535 GRCh37: 7:102944432-102944432
GRCh38: 7:103303985-103303985
3 PMPCB NM_004279.3(PMPCB):c.524G>A (p.Arg175His) SNV Pathogenic 523140 rs200188353 GRCh37: 7:102944355-102944355
GRCh38: 7:103303908-103303908
4 PMPCB NM_004279.3(PMPCB):c.530T>G (p.Val177Gly) SNV Pathogenic 523141 rs1436866272 GRCh37: 7:102944361-102944361
GRCh38: 7:103303914-103303914
5 PMPCB NM_004279.3(PMPCB):c.1265T>C (p.Ile422Thr) SNV Pathogenic 523142 rs1461200360 GRCh37: 7:102952279-102952279
GRCh38: 7:103311832-103311832
6 PMPCB NM_004279.3(PMPCB):c.1087T>C (p.Trp363Arg) SNV Uncertain significance 1030756 GRCh37: 7:102950855-102950855
GRCh38: 7:103310408-103310408
7 PMPCB NM_004279.3(PMPCB):c.150A>C (p.Gln50His) SNV Uncertain significance 1030757 GRCh37: 7:102939065-102939065
GRCh38: 7:103298618-103298618
8 PMPCB NM_004279.3(PMPCB):c.28T>G (p.Leu10Val) SNV Uncertain significance 1030758 GRCh37: 7:102937934-102937934
GRCh38: 7:103297487-103297487
9 PMPCB NM_004279.3(PMPCB):c.470T>G (p.Leu157Arg) SNV Uncertain significance 1030759 GRCh37: 7:102944301-102944301
GRCh38: 7:103303854-103303854
10 PMPCB NM_004279.3(PMPCB):c.-3G>T SNV Uncertain significance 1031399 GRCh37: 7:102937904-102937904
GRCh38: 7:103297457-103297457

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

72
# 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

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 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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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