MCID: PPC004
MIFTS: 9

Pipecolic Acidemia

Aliases & Classifications for Pipecolic Acidemia

MalaCards integrated aliases for Pipecolic Acidemia:

Name: Pipecolic Acidemia 73 70

External Ids:

UMLS 70 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 : 73 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:

(show all 13)
# Related Disease Score Top Affiliating Genes
1 refsum disease with increased pipecolic acidemia 11.3
2 refsum disease, classic 10.2
3 retinitis pigmentosa 10.0
4 adrenoleukodystrophy 10.0
5 peroxisome biogenesis disorder 1b 10.0
6 sensorineural hearing loss 10.0
7 neuroretinitis 10.0
8 retinitis 10.0
9 zellweger syndrome 10.0
10 adrenomyeloneuropathy 10.0
11 neonatal adrenoleukodystrophy 10.0
12 refsum disease, infantile form 10.0
13 hypotonia 10.0

Graphical network of the top 20 diseases related to Pipecolic Acidemia:



Diseases related to Pipecolic Acidemia

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 PMID Year
1
Identification of the alpha-aminoadipic semialdehyde dehydrogenase-phosphopantetheinyl transferase gene, the human ortholog of the yeast LYS5 gene. 61
11286508 2001
2
Atypical refsum disease with pipecolic acidemia and abnormal catalase distribution. 61
10632109 2000
3
[Joubert's syndrome]. 61
2190521 1990
4
Dysmorphic syndrome with phytanic acid oxidase deficiency, abnormal very long chain fatty acids, and pipecolic acidemia: studies in four children. 61
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
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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