MCID: PPC004
MIFTS: 6

Pipecolic Acidemia

Aliases & Classifications for Pipecolic Acidemia

MalaCards integrated aliases for Pipecolic Acidemia:

Name: Pipecolic Acidemia 77 74

External Ids:

UMLS 74 C0268537

Summaries for Pipecolic Acidemia

MalaCards based summary : Pipecolic Acidemia is related to refsum disease with increased pipecolic acidemia and refsum disease, classic. An important gene associated with Pipecolic Acidemia is AASDHPPT (Aminoadipate-Semialdehyde Dehydrogenase-Phosphopantetheinyl Transferase).

Wikipedia : 77 Pipecolic acidemia, is a very rare autosomal recessive metabolic disorder that is caused by a... more...

Related Diseases for Pipecolic Acidemia

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

# Related Disease Score Top Affiliating Genes
1 refsum disease with increased pipecolic acidemia 12.4
2 refsum disease, classic 10.2

Symptoms & Phenotypes for Pipecolic Acidemia

Drugs & Therapeutics for Pipecolic Acidemia

Search Clinical Trials , NIH Clinical Center for Pipecolic Acidemia

Genetic Tests for Pipecolic Acidemia

Anatomical Context for Pipecolic Acidemia

Publications for Pipecolic Acidemia

Articles related to Pipecolic Acidemia:

# Title Authors Year
1
Atypical refsum disease with pipecolic acidemia and abnormal catalase distribution. ( 10632109 )
2000
2
Dysmorphic syndrome with phytanic acid oxidase deficiency, abnormal very long chain fatty acids, and pipecolic acidemia: studies in four children. ( 2418187 )
1986

Variations for Pipecolic Acidemia

Expression for Pipecolic Acidemia

Search GEO for disease gene expression data for Pipecolic Acidemia.

Pathways for Pipecolic Acidemia

GO Terms for Pipecolic Acidemia

Sources for Pipecolic 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
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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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