MMDS5
MCID: MLT151
MIFTS: 21

Multiple Mitochondrial Dysfunctions Syndrome 5 (MMDS5)

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

Aliases & Classifications for Multiple Mitochondrial Dysfunctions Syndrome 5

MalaCards integrated aliases for Multiple Mitochondrial Dysfunctions Syndrome 5:

Name: Multiple Mitochondrial Dysfunctions Syndrome 5 57 12 75 6 15
Mmds5 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
progressive disorder
death by 5 years of age
two unrelated families of indian origin have been reported (last curated august 2017)


HPO:

32
multiple mitochondrial dysfunctions syndrome 5:
Onset and clinical course infantile onset progressive


Classifications:



Summaries for Multiple Mitochondrial Dysfunctions Syndrome 5

OMIM : 57 MMDS5 is an autosomal recessive disorder characterized mainly by progressive neurologic deterioration beginning in early infancy. Affected individuals have essentially no psychomotor development and have early-onset seizures with neurologic decline and spasticity. Brain imaging shows severe leukodystrophy with evidence of dys- or delayed myelination. Death usually occurs in early childhood (summary by Shukla et al., 2017). For a general description and a discussion of genetic heterogeneity of multiple mitochondrial dysfunctions syndrome, see MMDS1 (605711). (617613)

MalaCards based summary : Multiple Mitochondrial Dysfunctions Syndrome 5, also known as mmds5, is related to multiple mitochondrial dysfunctions syndrome. An important gene associated with Multiple Mitochondrial Dysfunctions Syndrome 5 is ISCA1 (Iron-Sulfur Cluster Assembly 1). Affiliated tissues include brain and eye, and related phenotypes are seizures and spasticity

UniProtKB/Swiss-Prot : 75 Multiple mitochondrial dysfunctions syndrome 5: An autosomal recessive, severe disorder characterized by early onset neurological deterioration, seizures, cerebral and cerebellar leukodystrophy, dysmyelination, cortical migrational abnormalities, lactic acidosis and early demise.

Related Diseases for Multiple Mitochondrial Dysfunctions Syndrome 5

Diseases in the Multiple Mitochondrial Dysfunctions Syndrome family:

Multiple Mitochondrial Dysfunctions Syndrome 1 Multiple Mitochondrial Dysfunctions Syndrome 3
Multiple Mitochondrial Dysfunctions Syndrome 4 Multiple Mitochondrial Dysfunctions Syndrome 5
Multiple Mitochondrial Dysfunctions Syndrome 6 Multiple Mitochondrial Dysfunctions Syndrome 2

Diseases related to Multiple Mitochondrial Dysfunctions Syndrome 5 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 multiple mitochondrial dysfunctions syndrome 9.9

Symptoms & Phenotypes for Multiple Mitochondrial Dysfunctions Syndrome 5

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
seizures
spasticity
hyperreflexia
developmental regression
delayed myelination
more
Muscle Soft Tissue:
increased muscle tone

Head And Neck Head:
microcephaly (1 patient)

Abdomen Gastrointestinal:
feeding difficulties in the newborn period

Laboratory Abnormalities:
increased serum lactate
increased serum creatine kinase (in some patients)

Growth Other:
poor growth

Head And Neck Eyes:
pigmentary retinopathy (in some patients)


Clinical features from OMIM:

617613

Human phenotypes related to Multiple Mitochondrial Dysfunctions Syndrome 5:

32 (show all 11)
# Description HPO Frequency HPO Source Accession
1 seizures 32 HP:0001250
2 spasticity 32 HP:0001257
3 hyperreflexia 32 HP:0001347
4 developmental regression 32 HP:0002376
5 global developmental delay 32 HP:0001263
6 elevated serum creatine phosphokinase 32 very rare (1%) HP:0003236
7 ventriculomegaly 32 HP:0002119
8 increased serum lactate 32 HP:0002151
9 pachygyria 32 very rare (1%) HP:0001302
10 leukodystrophy 32 HP:0002415
11 delayed myelination 32 HP:0012448

Drugs & Therapeutics for Multiple Mitochondrial Dysfunctions Syndrome 5

Search Clinical Trials , NIH Clinical Center for Multiple Mitochondrial Dysfunctions Syndrome 5

Genetic Tests for Multiple Mitochondrial Dysfunctions Syndrome 5

Anatomical Context for Multiple Mitochondrial Dysfunctions Syndrome 5

MalaCards organs/tissues related to Multiple Mitochondrial Dysfunctions Syndrome 5:

41
Brain, Eye

Publications for Multiple Mitochondrial Dysfunctions Syndrome 5

Articles related to Multiple Mitochondrial Dysfunctions Syndrome 5:

# Title Authors Year
1
Report of the Third Family with Multiple Mitochondrial Dysfunctions Syndrome 5 Caused by the Founder Variant p.(Glu87Lys) in ISCA1. ( 30105122 )
2018

Variations for Multiple Mitochondrial Dysfunctions Syndrome 5

ClinVar genetic disease variations for Multiple Mitochondrial Dysfunctions Syndrome 5:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ISCA1 NM_030940.3(ISCA1): c.259G> A (p.Glu87Lys) single nucleotide variant Pathogenic rs776679653 GRCh38 Chromosome 9, 86266174: 86266174
2 ISCA1 NM_030940.3(ISCA1): c.259G> A (p.Glu87Lys) single nucleotide variant Pathogenic rs776679653 GRCh37 Chromosome 9, 88881089: 88881089

Expression for Multiple Mitochondrial Dysfunctions Syndrome 5

Search GEO for disease gene expression data for Multiple Mitochondrial Dysfunctions Syndrome 5.

Pathways for Multiple Mitochondrial Dysfunctions Syndrome 5

GO Terms for Multiple Mitochondrial Dysfunctions Syndrome 5

Sources for Multiple Mitochondrial Dysfunctions Syndrome 5

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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