MCID: TGL001
MIFTS: 10

Tiglic Acidemia

Categories: Metabolic diseases, Rare diseases

Aliases & Classifications for Tiglic Acidemia

MalaCards integrated aliases for Tiglic Acidemia:

Name: Tiglic Acidemia 58 54 74
Disorder of Isoleucine Metabolism 54

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
tiglic acidemia:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 58 275190
MedGen 43 C1848793
UMLS 74 C1848793

Summaries for Tiglic Acidemia

MalaCards based summary : Tiglic Acidemia, is also known as disorder of isoleucine metabolism. Related phenotypes are aminoaciduria and episodic abdominal pain

Description from OMIM: 275190

Related Diseases for Tiglic Acidemia

Symptoms & Phenotypes for Tiglic Acidemia

Human phenotypes related to Tiglic Acidemia:

33
# Description HPO Frequency HPO Source Accession
1 aminoaciduria 33 HP:0003355
2 episodic abdominal pain 33 HP:0002574
3 acidosis 33 HP:0001941
4 ketosis 33 HP:0001946

Symptoms via clinical synopsis from OMIM:

58
G I:
episodic abdominal pain

Lab:
tiglyl-coa to alpha-methyl-beta-hydroxybutyryl-coa conversion defect
anion gap
moderate serum ketonemia
tiglic acidemia
tiglic aciduria

Metabolic:
acidosis

Clinical features from OMIM:

275190

Drugs & Therapeutics for Tiglic Acidemia

Search Clinical Trials , NIH Clinical Center for Tiglic Acidemia

Genetic Tests for Tiglic Acidemia

Anatomical Context for Tiglic Acidemia

Publications for Tiglic Acidemia

Variations for Tiglic Acidemia

Expression for Tiglic Acidemia

Search GEO for disease gene expression data for Tiglic Acidemia.

Pathways for Tiglic Acidemia

GO Terms for Tiglic Acidemia

Sources for Tiglic Acidemia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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