MCID: MLT119
MIFTS: 20

Multiple Mitochondrial Dysfunctions Syndrome 3

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

Aliases & Classifications for Multiple Mitochondrial Dysfunctions Syndrome 3

MalaCards integrated aliases for Multiple Mitochondrial Dysfunctions Syndrome 3:

Name: Multiple Mitochondrial Dysfunctions Syndrome 3 53 12 71 28 69
Mmds3 53 71
Multiple Mitochondrial Dysfunctions Syndrome Type 3 55
Iba57 Deficiency 55

Characteristics:

Orphanet epidemiological data:

55
multiple mitochondrial dysfunctions syndrome type 3
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

53
Inheritance:
autosomal recessive

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


HPO:

31
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 high palate, microcephaly and retrognathia. An important gene associated with Multiple Mitochondrial Dysfunctions Syndrome 3 is IBA57 (IBA57, Iron-Sulfur Cluster Assembly). 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:

53
Head And Neck Head:
microcephaly

Growth Other:
intrauterine growth retardation

Prenatal Manifestations Amniotic Fluid:
polyhydramnios

Head And Neck Mouth:
high-arched palate

Skeletal:
arthrogryposis

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

Head And Neck Face:
retrognathia

Metabolic Features:
lactic acidosis
metabolic acidosis

Neurologic Central Nervous System:
polymicrogyria
encephalopathy
hypoplasia of the corpus callosum
cerebral atrophy
hypotonia, severe
more
Chest Breasts:
widely spaced nipples

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


Clinical features from OMIM:

615330

Human phenotypes related to Multiple Mitochondrial Dysfunctions Syndrome 3:

31 (show all 15)
# Description HPO Frequency HPO Source Accession
1 high palate 31 HP:0000218
2 microcephaly 31 HP:0000252
3 retrognathia 31 HP:0000278
4 intrauterine growth retardation 31 HP:0001511
5 wide intermamillary distance 31 HP:0006610
6 arthrogryposis multiplex congenita 31 HP:0002804
7 lactic acidosis 31 HP:0003128
8 abnormality of mitochondrial metabolism 31 HP:0003287
9 polyhydramnios 31 HP:0001561
10 metabolic acidosis 31 HP:0001942
11 polymicrogyria 31 HP:0002126
12 encephalopathy 31 HP:0001298
13 hypoplasia of the corpus callosum 31 HP:0002079
14 cerebral atrophy 31 HP:0002059
15 severe muscular hypotonia 31 HP:0006829

Drugs & Therapeutics for Multiple Mitochondrial Dysfunctions Syndrome 3

Search Clinical Trials , 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:

# Genetic test Affiliating Genes
1 Multiple Mitochondrial Dysfunctions Syndrome 3 28 IBA57

Anatomical Context for Multiple Mitochondrial Dysfunctions Syndrome 3

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

38
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
# 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
# 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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