MCID: KRB004

Krabbe Disease, Atypical malady

Summaries for Krabbe Disease, Atypical

About this section


MalaCards based summary: Krabbe Disease, Atypical is related to krabbe disease atypical due to saposin a deficiency, and has symptoms including autosomal recessive inheritance, hyporeflexia and hypertonia. An important gene associated with Krabbe Disease, Atypical is PSAP (prosaposin).

Description from OMIM:46 611722

Aliases & Classifications for Krabbe Disease, Atypical

About this section

Krabbe Disease, Atypical, Aliases & Descriptions:

Name: Krabbe Disease, Atypical 46


Related Diseases for Krabbe Disease, Atypical

About this section

Diseases related to Krabbe Disease, Atypical via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1krabbe disease atypical due to saposin a deficiency10.5

Symptoms for Krabbe Disease, Atypical

About this section

Symptoms by clinical synopsis from OMIM:

611722

Clinical features from OMIM:

611722

HPO human phenotypes related to Krabbe Disease, Atypical:

(show all 9)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 hyporeflexia HP:0001265
3 hypertonia HP:0001276
4 global brain atrophy HP:0002283
5 central apnea HP:0002871
6 respiratory failure HP:0002878
7 increased csf protein HP:0002922
8 infantile onset HP:0003593
9 cerebral dysmyelination HP:0007266

Drugs & Therapeutics for Krabbe Disease, Atypical

About this section

Drug clinical trials:

Search ClinicalTrials for Krabbe Disease, Atypical

Search NIH Clinical Center for Krabbe Disease, Atypical

Genetic Tests for Krabbe Disease, Atypical

About this section

Anatomical Context for Krabbe Disease, Atypical

About this section

Animal Models for Krabbe Disease, Atypical or affiliated genes

About this section

Publications for Krabbe Disease, Atypical

About this section

Variations for Krabbe Disease, Atypical

About this section

Clinvar genetic disease variations for Krabbe Disease, Atypical:

7
id Gene Name Type Significance SNP ID Assembly Location
1PSAPPSAP, 3-BP DEL, 207TGTdeletionPathogenic

Expression for genes affiliated with Krabbe Disease, Atypical

About this section
Expression patterns in normal tissues for genes affiliated with Krabbe Disease, Atypical

Search GEO for disease gene expression data for Krabbe Disease, Atypical.

Pathways for genes affiliated with Krabbe Disease, Atypical

About this section

Compounds for genes affiliated with Krabbe Disease, Atypical

About this section

GO Terms for genes affiliated with Krabbe Disease, Atypical

About this section

Products for genes affiliated with Krabbe Disease, Atypical

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Krabbe Disease, Atypical

About this section
4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet