MCID: MLT119
MIFTS: 17

Multiple Mitochondrial Dysfunctions Syndrome 3 malady

Genetic diseases, Neuronal diseases, Metabolic diseases, Rare diseases categories

Summaries for Multiple Mitochondrial Dysfunctions Syndrome 3

About this section


MalaCards based summary: Multiple Mitochondrial Dysfunctions Syndrome 3, is also known as fatal multiple mitochondrial dysfunction syndrome type 3, and has symptoms including autosomal recessive inheritance, high palate and microcephaly. An important gene associated with Multiple Mitochondrial Dysfunctions Syndrome 3 is IBA57 (IBA57, iron-sulfur cluster assembly homolog (S. cerevisiae)).

Description from OMIM:46 615330

Aliases & Classifications for Multiple Mitochondrial Dysfunctions Syndrome 3

About this section
Sources:
46OMIM, 48Orphanet, 27ICD10 via Orphanet
See all sources

Multiple Mitochondrial Dysfunctions Syndrome 3, Aliases & Descriptions:

Name: Multiple Mitochondrial Dysfunctions Syndrome 3 46
Fatal Multiple Mitochondrial Dysfunction Syndrome Type 3 48
 
Hypotonia-Cerebral Atrophy-Hyperglycinemia Syndrome 48
Iba57 Deficiency 48


Classifications:



Characteristics (Orphanet epidemiological data):

48
fatal multiple mitochondrial dysfunction syndrome type 3:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


External Ids:

ICD10 via Orphanet27 G31.8
OMIM46 615330

Related Diseases for Multiple Mitochondrial Dysfunctions Syndrome 3

About this section

Diseases in the Multiple Mitochondrial Dysfunctions Syndrome 1 family:

Multiple Mitochondrial Dysfunctions Syndrome 2 multiple mitochondrial dysfunctions syndrome 3

Symptoms for Multiple Mitochondrial Dysfunctions Syndrome 3

About this section

Symptoms by clinical synopsis from OMIM:

615330

Clinical features from OMIM:

615330

HPO human phenotypes related to Multiple Mitochondrial Dysfunctions Syndrome 3:

(show all 16)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 high palate HP:0000218
3 microcephaly HP:0000252
4 retrognathia HP:0000278
5 encephalopathy HP:0001298
6 intrauterine growth retardation HP:0001511
7 polyhydramnios HP:0001561
8 metabolic acidosis HP:0001942
9 cerebral atrophy HP:0002059
10 hypoplasia of the corpus callosum HP:0002079
11 polymicrogyria HP:0002126
12 arthrogryposis multiplex congenita HP:0002804
13 lactic acidosis HP:0003128
14 congenital onset HP:0003577
15 wide intermamillary distance HP:0006610
16 severe muscular hypotonia HP:0006829

Drugs & Therapeutics for Multiple Mitochondrial Dysfunctions Syndrome 3

About this section

Drug clinical trials:

Search ClinicalTrials for Multiple Mitochondrial Dysfunctions Syndrome 3

Search NIH Clinical Center for Multiple Mitochondrial Dysfunctions Syndrome 3

Genetic Tests for Multiple Mitochondrial Dysfunctions Syndrome 3

About this section

Anatomical Context for Multiple Mitochondrial Dysfunctions Syndrome 3

About this section

Animal Models for Multiple Mitochondrial Dysfunctions Syndrome 3 or affiliated genes

About this section

Publications for Multiple Mitochondrial Dysfunctions Syndrome 3

About this section

Variations for Multiple Mitochondrial Dysfunctions Syndrome 3

About this section

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

63
id Symbol AA change Variation ID SNP ID
1IBA57p.Gln314ProVAR_069821

Clinvar genetic disease variations for Multiple Mitochondrial Dysfunctions Syndrome 3:

7
id Gene Name Type Significance SNP ID Assembly Location
1IBA57NM_001010867.2(IBA57): c.941A> C (p.Gln314Pro)single nucleotide variantPathogenicGRCh37Chr 1, 228363084: 228363084

Expression for genes affiliated with Multiple Mitochondrial Dysfunctions Syndrome 3

About this section
Expression patterns in normal tissues for genes affiliated with Multiple Mitochondrial Dysfunctions Syndrome 3

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

Pathways for genes affiliated with Multiple Mitochondrial Dysfunctions Syndrome 3

About this section

Compounds for genes affiliated with Multiple Mitochondrial Dysfunctions Syndrome 3

About this section

GO Terms for genes affiliated with Multiple Mitochondrial Dysfunctions Syndrome 3

About this section

Products for genes affiliated with Multiple Mitochondrial Dysfunctions Syndrome 3

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Multiple Mitochondrial Dysfunctions Syndrome 3

About this section
4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet