MCID: PPC004
MIFTS: 6

Pipecolic Acidemia

Aliases & Classifications for Pipecolic Acidemia

MalaCards integrated aliases for Pipecolic Acidemia:

Name: Pipecolic Acidemia 76 73

External Ids:

UMLS 73 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 : 76 Pipecolic acidemia, also called hyperpipecolic acidemia or hyperpipecolatemia, is a very rare autosomal... 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 12.2
2 refsum disease, classic 10.0

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 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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