MCID: MLT119
MIFTS: 21

Multiple Mitochondrial Dysfunctions Syndrome 3 malady

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

Aliases & Classifications for Multiple Mitochondrial Dysfunctions Syndrome 3

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Aliases & Descriptions for Multiple Mitochondrial Dysfunctions Syndrome 3:

Name: Multiple Mitochondrial Dysfunctions Syndrome 3 51 11 24 69 26 67
Mmds3 24 69
 
Fatal Multiple Mitochondrial Dysfunctions Syndrome Type 3 53
Iba57 Deficiency 53

Characteristics:

Orphanet epidemiological data:

53
fatal multiple mitochondrial dysfunctions syndrome type 3:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal

HPO:

63
multiple mitochondrial dysfunctions syndrome 3:
Inheritance: autosomal recessive inheritance
Onset and clinical course: congenital onset

Classifications:



External Ids:

OMIM51 615330
Disease Ontology11 DOID:0080135
Orphanet53 ORPHA363424
ICD10 via Orphanet30 G31.8
MeSH38 D028361

Summaries for Multiple Mitochondrial Dysfunctions Syndrome 3

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UniProtKB/Swiss-Prot:69 Multiple mitochondrial dysfunctions syndrome 3: A severe disorder of systemic energy metabolism, resulting in weakness, respiratory failure, lack of neurologic development, lactic acidosis, hyperglycinemia and early death. Some patients show failure to thrive, pulmonary hypertension, hypotonia and irritability. Biochemical features include severe combined deficiency of the 2- oxoacid dehydrogenases, defective lipoic acid synthesis and reduction in activity of mitochondrial respiratory chain complexes.

MalaCards based summary: Multiple Mitochondrial Dysfunctions Syndrome 3, also known as mmds3, is related to multiple mitochondrial dysfunctions syndrome 1, and has symptoms including high palate, microcephaly and retrognathia. An important gene associated with Multiple Mitochondrial Dysfunctions Syndrome 3 is IBA57 (IBA57 Homolog, Iron-Sulfur Cluster Assembly).

Description from OMIM:51 615330

Related Diseases for Multiple Mitochondrial Dysfunctions Syndrome 3

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Diseases in the Multiple Mitochondrial Dysfunctions Syndrome family:

multiple mitochondrial dysfunctions syndrome 3 Multiple Mitochondrial Dysfunctions Syndrome 1
Multiple Mitochondrial Dysfunctions Syndrome 2 Multiple Mitochondrial Dysfunctions Syndrome 4

Diseases related to Multiple Mitochondrial Dysfunctions Syndrome 3 via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1multiple mitochondrial dysfunctions syndrome 110.9

Symptoms for Multiple Mitochondrial Dysfunctions Syndrome 3

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Symptoms by clinical synopsis from OMIM:

615330

Clinical features from OMIM:

615330

Human phenotypes related to Multiple Mitochondrial Dysfunctions Syndrome 3:

 63 (show all 15)
id Description HPO Frequency HPO Source Accession
1 high palate63 HP:0000218
2 microcephaly63 HP:0000252
3 retrognathia63 HP:0000278
4 encephalopathy63 HP:0001298
5 intrauterine growth retardation63 HP:0001511
6 polyhydramnios63 HP:0001561
7 metabolic acidosis63 HP:0001942
8 cerebral atrophy63 HP:0002059
9 hypoplasia of the corpus callosum63 HP:0002079
10 polymicrogyria63 HP:0002126
11 arthrogryposis multiplex congenita63 HP:0002804
12 lactic acidosis63 HP:0003128
13 abnormality of mitochondrial metabolism63 HP:0003287
14 wide intermamillary distance63 HP:0006610
15 severe muscular hypotonia63 HP:0006829

Drugs & Therapeutics for Multiple Mitochondrial Dysfunctions Syndrome 3

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Drugs for Multiple Mitochondrial Dysfunctions Syndrome 3 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Ethanolapproved204364-17-5702
Synonyms:
(C6-C9)Alkyl alcohol
02483_FLUKA
02851_FLUKA
02853_FLUKA
02854_FLUKA
02855_FLUKA
02856_FLUKA
02856_SIAL
02857_FLUKA
02857_SIAL
02858_FLUKA
02858_SIAL
02860_FLUKA
02865_FLUKA
02865_SIAL
02870_FLUKA
02870_SIAL
02875_FLUKA
02877_FLUKA
02878_FLUKA
02882_FLUKA
02882_SIAL
02883_FLUKA
02884_FLUKA
02890_FLUKA
02890_SIAL
02891_FLUKA
02891_SIAL
1-Hydroxyethane
100C.NPA
121182-78-3
187380_ALDRICH
187380_SIAL
24102_RIEDEL
24102_SIAL
24103_RIEDEL
24103_SIAL
24105_RIEDEL
24105_SIAL
24106_RIEDEL
24106_SIAL
24194_RIEDEL
24194_SIAL
245119_ALDRICH
245119_SIAL
270741_ALDRICH
270741_SIAL
277649_ALDRICH
277649_SIAL
2858_SIGMA
29221_FLUKA
32205_RIEDEL
32205_SIAL
32221_RIEDEL
32221_SIAL
32294_RIEDEL
32294_SIAL
34870_SIAL
34963_RIEDEL
39278_FLUKA
40210_ALDRICH
40210_RIEDEL
41322_FLUKA
458600_ALDRICH
458600_SIAL
459828_ALDRICH
459828_SIAL
459836_ALDRICH
459836_SIAL
459844_SIAL
48075_SUPELCO
493511_SIAL
493538_ALDRICH
493538_SIAL
493546_ALDRICH
493546_SIAL
64-17-5
676829_SIAL
68475-56-9
71076-86-3
71329-38-9
8000-16-6
8024-45-1
AC1L19TW
AC1Q31MM
AHD 2000
AI3-01706
ALCOHOL 5% IN D5-W
Absolute Alcohol
Absolute Ethanol
Absolute alcohol
Absolute ethanol
Absolute ethyl alcohol
Aethanol
Aethanol [German]
Aethylalkohol
Alcare Hand Degermer
Alcohol
Alcohol (USP)
Alcohol (ethyl)
Alcohol Anhydrous
Alcohol [USP]
Alcohol anhydrous
Alcohol dehydrated
Alcohol denatured
Alcohol etílico
Alcohol, Absolute
Alcohol, Dehydrated
Alcohol, Diluted
Alcohol, Grain
Alcohol, anhydrous
Alcohol, dehydrated
Alcohol, denatured
Alcohol, diluted
Alcohol, ethyl
Alcohols
Alcohols, C1-3
Alcohols, C30
Alcohols, C6-9
Alcool Ethylique
Alcool Etilico
Alcool ethylique
Alcool etilico
Alcool éthylique
Algrain
Alkohol
Alkohol [German]
Alkoholu Etylowego
Alkoholu etylowego
Aminoethanol
Anhydrol
Anhydrol PM 4085
Anhydrous alcohol
Anhydrous ethanol
Beta-Aminoethanol
Beta-Aminoethyl Alcohol
Beta-Ethanolamine
Beta-Hydroxyethylamine
C00469
C2H5OH
C2H6O
CCRIS 945
CDA 19
CDA 19-200
CHEBI:16236
CHEMBL545
CID702
Caswell No. 426
Caswell No. 430
Colamine
Cologne Spirit
Cologne spirit
Cologne spirits
 
D000431
D00068
DB00898
Dehydrated Ethanol
Dehydrated alcohol
Dehydrated ethanol
Denatured Alcohol
Denatured Alcohol Cd-10
Denatured Alcohol Cd-5
Denatured Alcohol Cd-5a
Denatured Alcohol Sd-1
Denatured Alcohol Sd-13a
Denatured Alcohol Sd-17
Denatured Alcohol Sd-23a
Denatured Alcohol Sd-28
Denatured Alcohol Sd-30
Denatured Alcohol Sd-39b
Denatured Alcohol Sd-39c
Denatured Alcohol Sd-3a
Denatured Alcohol Sd-40m
Denatured Ethanol
Denatured alcohol
Denatured ethanol
Desinfektol EL
Diluted Alcohol
Distilled spirits
E2385_SIGMA
E7023_ALDRICH
E7023_SIAL
E7148_ALDRICH
E7148_SIAL
E7517_SIGMA
EINECS 200-578-6
EINECS 270-649-4
EOH
EOX
ETA
Envision Conditioner Pdd 9020
Esumiru WK 88
EtOH
Etanolo
Etanolo [Italian]
Ethanol (9CI)
Ethanol 200 Proof
Ethanol 200 proof
Ethanol Absolute
Ethanol Absolute Bp
Ethanol Anhydrous
Ethanol Extra Pure
Ethanol Vapor
Ethanol [JAN]
Ethanol solution
Ethanol, Silent Spirit
Ethanol, undenatured
Ethanolum anhydricum
Ethicap
Ethyl Alcohol
Ethyl Alcohol & Water, 10%
Ethyl Alcohol & Water, 20%
Ethyl Alcohol & Water, 30%
Ethyl Alcohol & Water, 40%
Ethyl Alcohol & Water, 5%
Ethyl Alcohol & Water, 50%
Ethyl Alcohol & Water, 60%
Ethyl Alcohol & Water, 70%
Ethyl Alcohol & Water, 80%
Ethyl Alcohol & Water, 95%
Ethyl Alcohol & Water, 96%
Ethyl Alcohol Anhydrous
Ethyl Alcohol, Anhydrous
Ethyl Alcohol, Denatured
Ethyl Hydrate
Ethyl Hydroxide
Ethyl alc
Ethyl alcohol
Ethyl alcohol anhydrous
Ethyl alcohol in alcoholic beverages
Ethyl alcohol usp
Ethyl hydrate
Ethyl hydroxide
Ethylalcohol
Ethylalcohol [Dutch]
Ethylol
Ethylolamine
Ethyloxy Group
Etylowy alkohol
FEMA No. 2419
FEMA Number 2419
Fermentation alcohol
Glycinol
Grain alcohol
HSDB 531
HSDB 82
HYDROXYETHYL GROUP
Hinetoless
Hydroxyethane
I14-12648
IMS 99
Infinity Pure
Jaysol
Jaysol S
LS-1539
LTBB002977
Lux
Methylated Spirit Mineralised
Methylated spirit
Methylcarbinol
MolPort-001-785-844
Molasses alcohol
NCGC00091458-01
NCI-C03134
NSC 85228
NSC85228
Oxydimethylene Group
Potato alcohol
Punctilious ethyl alcohol
Pyro
QMHAIh@
Reagent Alcohol
Ru-Tuss Expectorant
SDA 3A
SDA 40-2
SDM No. 37
SY Fresh M
Sekundasprit
Silent spirit
Spirit
Spirits of wine
Spiritus vini
Spirt
Synasol
Tecsol
Tecsol C
Thanol
Thiofaco M-50
UNII-3K9958V90M
USAF EK-1597
Undenatured Ethanol
WLN: Q2
absolute alcohol
alcohol
alcohol etilico
bmse000297
etanol
ethanol
ethyl alcohol
grain alcohol
nchem.651-comp3c
nchembio.552-comp10
nchembio.94-comp20
spiritus vini
Äthanol
Äthylalkohol
éthanol
2
Acetylcholineapproved77651-84-3187
Synonyms:
ACh
Acetyl choline ion
Acetylcholine Chloride
Acetylcholine cation
 
Acetylcholinium: acetyl-Choline
Choline acetate
Choline acetate (ester)
O-Acetylcholine
acetylcholine chloride
3Anesthetics9001

Interventional clinical trials:

idNameStatusNCT IDPhase
1Pathophysiology Analysis of "Costello Syndrome" on Cellular ModelsCompletedNCT02812511
2Assessment of Small Fiber Neuropathy in Rare Diseases Using SudoscanRecruitingNCT02985710
3A Case Control Study to Identify the Role of Epigenetic Regulation of Genes Responsible for Energy Metabolism and Mitochondrial Function in the Obesity Paradox in Cardiac SurgeryNot yet recruitingNCT02908009

Search NIH Clinical Center for Multiple Mitochondrial Dysfunctions Syndrome 3

Genetic Tests for Multiple Mitochondrial Dysfunctions Syndrome 3

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Genetic tests related to Multiple Mitochondrial Dysfunctions Syndrome 3:

id Genetic test Affiliating Genes
1 Multiple Mitochondrial Dysfunctions Syndrome 326 24 IBA57

Anatomical Context for Multiple Mitochondrial Dysfunctions Syndrome 3

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Animal Models for Multiple Mitochondrial Dysfunctions Syndrome 3 or affiliated genes

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Publications for Multiple Mitochondrial Dysfunctions Syndrome 3

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Variations for Multiple Mitochondrial Dysfunctions Syndrome 3

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UniProtKB/Swiss-Prot genetic disease variations for Multiple Mitochondrial Dysfunctions Syndrome 3:

69
id Symbol AA change Variation ID SNP ID
1IBA57p.Gln314ProVAR_069821rs587777016

Clinvar genetic disease variations for Multiple Mitochondrial Dysfunctions Syndrome 3:

5
id Gene Variation Type Significance SNP ID Assembly Location
1IBA57NM_001010867.3(IBA57): c.941A> C (p.Gln314Pro)SNVPathogenicrs587777016GRCh37Chr 1, 228363084: 228363084

Expression for genes affiliated with Multiple Mitochondrial Dysfunctions Syndrome 3

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Search GEO for disease gene expression data for Multiple Mitochondrial Dysfunctions Syndrome 3.

Pathways for genes affiliated with Multiple Mitochondrial Dysfunctions Syndrome 3

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GO Terms for genes affiliated with Multiple Mitochondrial Dysfunctions Syndrome 3

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Sources for Multiple Mitochondrial Dysfunctions Syndrome 3

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet