MCID: MLT151
MIFTS: 16

Multiple Mitochondrial Dysfunctions Syndrome 5

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


Classifications:



External Ids:

OMIM 57 617613
Disease Ontology 12 DOID:0080274
MeSH 44 D028361

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, is also known as mmds5. An important gene associated with Multiple Mitochondrial Dysfunctions Syndrome 5 is ISCA1 (Iron-Sulfur Cluster Assembly 1). Affiliated tissues include brain.

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

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

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

Publications for Multiple Mitochondrial Dysfunctions Syndrome 5

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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