MMDS5
MCID: MLT151
MIFTS: 24

Multiple Mitochondrial Dysfunctions Syndrome 5 (MMDS5)

Categories: Eye diseases, Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases, Respiratory 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 72 29 6 15
Mmds5 57 58 72
Mitochondrial Dysfunctions, Multiple, Syndrome, Type 5 39
Multiple Mitochondrial Dysfunctions Syndrome Type 5 58
Isca1 Deficiency 58

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
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:

31
multiple mitochondrial dysfunctions syndrome 5:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset progressive


Classifications:

Orphanet: 58  
Rare neurological diseases
Inborn errors of metabolism


Summaries for Multiple Mitochondrial Dysfunctions Syndrome 5

OMIM® : 57 Multiple mitochondrial dysfunctions syndrome-5 (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) (Updated 05-Apr-2021)

MalaCards based summary : Multiple Mitochondrial Dysfunctions Syndrome 5, also known as mmds5, is related to isca1-related multiple mitochondrial dysfunctions syndrome and 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 related phenotypes are microcephaly and elevated serum creatine kinase

Disease Ontology : 12 A multiple mitochondrial dysfunctions syndrome that is characterized by progressive neurologic deterioration beginning in early infancy, with affected individuals having no psychomotor development and early-onset seizures with neurologic decline and spasticity, and has material basis in autosomal recessive inheritance of homozygous mutation in the iron-sulfur cluster assembly 1 gene on chromosome 9q21.

UniProtKB/Swiss-Prot : 72 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 Isca1-Related Multiple Mitochondrial Dysfunctions Syndrome

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 isca1-related multiple mitochondrial dysfunctions syndrome 11.4
2 multiple mitochondrial dysfunctions syndrome 10.1

Symptoms & Phenotypes for Multiple Mitochondrial Dysfunctions Syndrome 5

Human phenotypes related to Multiple Mitochondrial Dysfunctions Syndrome 5:

31 (show all 15)
# Description HPO Frequency HPO Source Accession
1 microcephaly 31 very rare (1%) HP:0000252
2 elevated serum creatine kinase 31 very rare (1%) HP:0003236
3 pachygyria 31 very rare (1%) HP:0001302
4 pigmentary retinopathy 31 very rare (1%) HP:0000580
5 spasticity 31 HP:0001257
6 hyperreflexia 31 HP:0001347
7 developmental regression 31 HP:0002376
8 global developmental delay 31 HP:0001263
9 growth delay 31 HP:0001510
10 ventriculomegaly 31 HP:0002119
11 increased serum lactate 31 HP:0002151
12 leukodystrophy 31 HP:0002415
13 feeding difficulties 31 HP:0011968
14 delayed myelination 31 HP:0012448
15 seizure 31 HP:0001250

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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 (Updated 05-Apr-2021)

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

Genetic tests related to Multiple Mitochondrial Dysfunctions Syndrome 5:

# Genetic test Affiliating Genes
1 Multiple Mitochondrial Dysfunctions Syndrome 5 29 ISCA1

Anatomical Context for Multiple Mitochondrial Dysfunctions Syndrome 5

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

40
Brain

Publications for Multiple Mitochondrial Dysfunctions Syndrome 5

Articles related to Multiple Mitochondrial Dysfunctions Syndrome 5:

# Title Authors PMID Year
1
ISCA1 mutation in a patient with infantile-onset leukodystrophy causes defects in mitochondrial [4Fe-4S] proteins. 61 6 57
29767723 2018
2
Homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome. 57 6
28356563 2017
3
Report of the Third Family with Multiple Mitochondrial Dysfunctions Syndrome 5 Caused by the Founder Variant p.(Glu87Lys) in ISCA1. 61 6
30105122 2018
4
ISCA1 mutation in a patient with infantile-onset leukodystrophy causes defects in mitochondrial [4Fe-4S] proteins. 6
30113620 2018

Variations for Multiple Mitochondrial Dysfunctions Syndrome 5

ClinVar genetic disease variations for Multiple Mitochondrial Dysfunctions Syndrome 5:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ISCA1 NM_030940.4(ISCA1):c.259G>A (p.Glu87Lys) SNV Pathogenic 375415 rs776679653 GRCh37: 9:88881089-88881089
GRCh38: 9:86266174-86266174
2 ISCA1 NM_030940.4(ISCA1):c.29T>G (p.Val10Gly) SNV Pathogenic 695121 rs1587823007 GRCh37: 9:88897345-88897345
GRCh38: 9:86282430-86282430

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 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
Content
Loading form....