MCID: MLT119
MIFTS: 23

Multiple Mitochondrial Dysfunctions Syndrome 3

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

Aliases & Classifications for Multiple Mitochondrial Dysfunctions Syndrome 3

MalaCards integrated aliases for Multiple Mitochondrial Dysfunctions Syndrome 3:

Name: Multiple Mitochondrial Dysfunctions Syndrome 3 54 12 24 71 29 69
Mmds3 24 71
Fatal Multiple Mitochondrial Dysfunctions Syndrome Type 3 56
Iba57 Deficiency 56

Characteristics:

Orphanet epidemiological data:

56
fatal multiple mitochondrial dysfunctions syndrome type 3
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

54
Inheritance:
autosomal recessive

Miscellaneous:
onset in utero
death in the perinatal period
two sibs have been reported (last curated july 2013)


HPO:

32
multiple mitochondrial dysfunctions syndrome 3:
Onset and clinical course congenital onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Multiple Mitochondrial Dysfunctions Syndrome 3

UniProtKB/Swiss-Prot : 71 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, is also known as mmds3, and has symptoms including cerebral atrophy, microcephaly and metabolic acidosis. An important gene associated with Multiple Mitochondrial Dysfunctions Syndrome 3 is IBA57 (IBA57 Homolog, Iron-Sulfur Cluster Assembly). The drugs Acetylcholine and Ethanol have been mentioned in the context of this disorder. Affiliated tissues include medulla oblongata.

Description from OMIM: 615330

Related Diseases for Multiple Mitochondrial Dysfunctions Syndrome 3

Symptoms & Phenotypes for Multiple Mitochondrial Dysfunctions Syndrome 3

Symptoms via clinical synopsis from OMIM:

54

Head And Neck- Mouth:
high-arched palate

Head And Neck- Head:
microcephaly

Growth- Other:
intrauterine growth retardation

Muscle Soft Tissue:
hypotonia, severe
defects in mitochondria respiratory activities, mainly complexes i, ii, and iv
defects in lipoate-containing mitochondrial enzyme complexes

Skeletal:
arthrogryposis

Laboratory- Abnormalities:
increased serum and csf lactate
increased serum and csf glycine

Neurologic- Central Nervous System:
white matter abnormalities
cerebral atrophy
hypotonia, severe
polymicrogyria
encephalopathy
more
Metabolic Features:
metabolic acidosis
lactic acidosis

Prenatal Manifestations- Amniotic Fluid:
polyhydramnios

Head And Neck- Face:
retrognathia

Chest- Breasts:
widely-spaced nipples


Clinical features from OMIM:

615330

Human phenotypes related to Multiple Mitochondrial Dysfunctions Syndrome 3:

32 (show all 15)
id Description HPO Frequency HPO Source Accession
1 cerebral atrophy 32 HP:0002059
2 microcephaly 32 HP:0000252
3 metabolic acidosis 32 HP:0001942
4 intrauterine growth retardation 32 HP:0001511
5 polyhydramnios 32 HP:0001561
6 polymicrogyria 32 HP:0002126
7 retrognathia 32 HP:0000278
8 arthrogryposis multiplex congenita 32 HP:0002804
9 encephalopathy 32 HP:0001298
10 lactic acidosis 32 HP:0003128
11 hypoplasia of the corpus callosum 32 HP:0002079
12 high palate 32 HP:0000218
13 wide intermamillary distance 32 HP:0006610
14 abnormality of mitochondrial metabolism 32 HP:0003287
15 severe muscular hypotonia 32 HP:0006829

Drugs & Therapeutics for Multiple Mitochondrial Dysfunctions Syndrome 3

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


id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetylcholine Approved 51-84-3 187
2
Ethanol Approved 64-17-5 702
3 Anesthetics

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Pathophysiology Analysis of "Costello Syndrome" on Cellular Models Completed NCT02812511
2 Assessment of Small Fiber Neuropathy in Rare Diseases Using Sudoscan Recruiting NCT02985710
3 Physiological Abnormalities Associated With Down Syndrome Not yet recruiting NCT03087500

Search NIH Clinical Center for Multiple Mitochondrial Dysfunctions Syndrome 3

Genetic Tests for Multiple Mitochondrial Dysfunctions Syndrome 3

Genetic tests related to Multiple Mitochondrial Dysfunctions Syndrome 3:

id Genetic test Affiliating Genes
1 Multiple Mitochondrial Dysfunctions Syndrome 3 29 24 IBA57

Anatomical Context for Multiple Mitochondrial Dysfunctions Syndrome 3

MalaCards organs/tissues related to Multiple Mitochondrial Dysfunctions Syndrome 3:

39
Medulla Oblongata

Publications for Multiple Mitochondrial Dysfunctions Syndrome 3

Variations for Multiple Mitochondrial Dysfunctions Syndrome 3

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

71
id Symbol AA change Variation ID SNP ID
1 IBA57 p.Gln314Pro VAR_069821 rs587777016

ClinVar genetic disease variations for Multiple Mitochondrial Dysfunctions Syndrome 3:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 IBA57 NM_001010867.3(IBA57): c.941A> C (p.Gln314Pro) single nucleotide variant Pathogenic rs587777016 GRCh37 Chromosome 1, 228363084: 228363084

Expression for Multiple Mitochondrial Dysfunctions Syndrome 3

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

Pathways for Multiple Mitochondrial Dysfunctions Syndrome 3

GO Terms for Multiple Mitochondrial Dysfunctions Syndrome 3

Sources for Multiple Mitochondrial Dysfunctions Syndrome 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....