MCID: KRB004
MIFTS: 18

Krabbe Disease, Atypical malady

Genetic diseases, Rare diseases categories

Summaries for Krabbe Disease, Atypical

About this section


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

Description from OMIM:45 611722

Aliases & Classifications for Krabbe Disease, Atypical

About this section

Krabbe Disease, Atypical, Aliases & Descriptions:

Name: Krabbe Disease, Atypical 45 10
Krabbe Disease Atypical Due to Saposin a Deficiency 41 20 22
 
Krabbe Disease, Atypical, Due to Saposin a Deficiency 60
Saposin a Deficiency 41


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases


External Ids:

OMIM45 611722

Related Diseases for Krabbe Disease, Atypical

About this section

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

idRelated DiseaseScoreTop Affiliating Genes
1krabbe disease10.2

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

Genetic tests related to Krabbe Disease, Atypical:

id Genetic test Affiliating Genes
1 Krabbe Disease, Atypical, Due to Saposin a Deficiency20 PSAP
2 Krabbe Disease Atypical Due to Saposin a Deficiency22

Anatomical Context for Krabbe Disease, Atypical

About this section

MalaCards organs/tissues related to Krabbe Disease, Atypical:

31
Brain

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:

6
id Gene Variation Type Significance SNP ID Assembly Location
1PSAPPSAP, 3-BP DEL, 207TGTdeletionPathogenic

Expression for genes affiliated with Krabbe Disease, Atypical

About this section
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
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet