MCID: MLT119
MIFTS: 14

Multiple Mitochondrial Dysfunctions Syndrome 3 malady

Neuronal diseases, Metabolic diseases categories

Summaries for Multiple Mitochondrial Dysfunctions Syndrome 3

About this section
Sources:
46OMIM, 32MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
MalaCards: Multiple Mitochondrial Dysfunctions Syndrome 3, is also known as fatal multiple mitochondrial dysfunction syndrome type 3 An important gene associated with Multiple Mitochondrial Dysfunctions Syndrome 3 is VTI1A (vesicle transport through interaction with t-SNAREs 1A).

Description from OMIM:46 615330

Aliases & Classifications for Multiple Mitochondrial Dysfunctions Syndrome 3

About this section
Sources:
46OMIM, 48Orphanet, 26ICD10 via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Metabolic diseases
Anatomical: Neuronal diseases


Characteristics (Orphanet epidemiological data):

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


Aliases & Descriptions:

multiple mitochondrial dysfunctions syndrome 3 46
fatal multiple mitochondrial dysfunction syndrome type 3 48
hypotonia-cerebral atrophy-hyperglycinemia syndrome 48


External Ids:

ICD10 via Orphanet26 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

Clinical Features for Multiple Mitochondrial Dysfunctions Syndrome 3

About this section
Sources:
46OMIM
See all sources

Clinical features from OMIM:

615330

Clinical synopsis from OMIM:

615330

Drugs & Therapeutics for Multiple Mitochondrial Dysfunctions Syndrome 3

About this section
Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
See all sources

Approved drugs:

Search CenterWatch for Multiple Mitochondrial Dysfunctions Syndrome 3

Drug clinical trials:

Search ClinicalTrials for Multiple Mitochondrial Dysfunctions Syndrome 3

Search NIH Clinical Center for Multiple Mitochondrial Dysfunctions Syndrome 3

Search CenterWatch 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

Genetic Variations for Multiple Mitochondrial Dysfunctions Syndrome 3

About this section
Sources:
62UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Multiple Mitochondrial Dysfunctions Syndrome 3:

62
id Symbol AA change Variation ID SNP ID
1IBA57p.Gln314ProVAR_069821

Expression for genes affiliated with Multiple Mitochondrial Dysfunctions Syndrome 3

About this section
Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Sources for Multiple Mitochondrial Dysfunctions Syndrome 3

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet