Aliases & Classifications for Succinic Acidemia

MalaCards integrated aliases for Succinic Acidemia:

Name: Succinic Acidemia 56 71

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
succinic acidemia:
Inheritance autosomal recessive inheritance


External Ids:

OMIM 56 600335
MedGen 41 C1838243
UMLS 71 C1838243

Summaries for Succinic Acidemia

MalaCards based summary : Succinic Acidemia is related to organic acidemia and lactic acidosis. Related phenotypes are lactic acidosis and respiratory distress

More information from OMIM: 600335

Related Diseases for Succinic Acidemia

Diseases related to Succinic Acidemia via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 organic acidemia 10.1
2 lactic acidosis 10.0

Symptoms & Phenotypes for Succinic Acidemia

Human phenotypes related to Succinic Acidemia:

31
# Description HPO Frequency HPO Source Accession
1 lactic acidosis 31 HP:0003128
2 respiratory distress 31 HP:0002098

Symptoms via clinical synopsis from OMIM:

56
Metabolic:
lactic acidosis
organic acidemia
succinicacidemia

Lab:
serum succinic acid levels greatly increased
low nadh-cytochrome c reductase activity
low nadh-ferricyanide reductase activity

Resp:
respiratory distress

Clinical features from OMIM:

600335

Drugs & Therapeutics for Succinic Acidemia

Search Clinical Trials , NIH Clinical Center for Succinic Acidemia

Genetic Tests for Succinic Acidemia

Anatomical Context for Succinic Acidemia

Publications for Succinic Acidemia

Articles related to Succinic Acidemia:

# Title Authors PMID Year
1
Succinic acidemia is not a new syndrome of organic acidemia. 61 56
2387080 1990
2
Succinic acidemia: a new syndrome of organic acidemia associated with congenital lactic acidosis and decreased NADH-cytochrome c reductase activity. 56 61
3383430 1988

Variations for Succinic Acidemia

Expression for Succinic Acidemia

Search GEO for disease gene expression data for Succinic Acidemia.

Pathways for Succinic Acidemia

GO Terms for Succinic Acidemia

Sources for Succinic Acidemia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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