Aliases & Classifications for Succinic Acidemia

MalaCards integrated aliases for Succinic Acidemia:

Name: Succinic Acidemia 57 72

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
succinic acidemia:
Inheritance autosomal recessive inheritance


External Ids:

OMIM 57 600335
MedGen 42 C1838243
UMLS 72 C1838243

Summaries for Succinic Acidemia

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

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:

32
# Description HPO Frequency HPO Source Accession
1 respiratory distress 32 HP:0002098
2 lactic acidosis 32 HP:0003128

Symptoms via clinical synopsis from OMIM:

57
Resp:
respiratory distress

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

Metabolic:
lactic acidosis
organic acidemia
succinicacidemia

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. 38 8
2387080 1990
2
Succinic acidemia: a new syndrome of organic acidemia associated with congenital lactic acidosis and decreased NADH-cytochrome c reductase activity. 38 8
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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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