MCID: KRB004
MIFTS: 18

Krabbe Disease, Atypical malady

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Krabbe Disease, Atypical

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Aliases & Descriptions for Krabbe Disease, Atypical:

Name: Krabbe Disease, Atypical 49 11
Krabbe Disease, Atypical, Due to Saposin a Deficiency 22 67 24 65
Saposin a Deficiency 45 22 67
 
Krabbe Disease Atypical Due to Saposin a Deficiency 45
Akrd 67

Characteristics:

HPO:

61
krabbe disease, atypical:
Inheritance: autosomal recessive inheritance
Onset and clinical course: infantile onset
Mortality/Aging: death in childhood


Classifications:



External Ids:

OMIM49 611722
MedGen34 C2673266
MeSH36 D007965
UMLS65 C2673266

Summaries for Krabbe Disease, Atypical

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UniProtKB/Swiss-Prot:67 Krabbe disease, atypical, due to saposin A deficiency: A disorder of galactosylceramide metabolism. Clinical features include neurologic regression around age 3 months, loss of spontaneous movements, hyporeflexia, generalized brain atrophy, and diffuse white matter dysmyelination.

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 hyporeflexia, hypertonia and global brain atrophy. An important gene associated with Krabbe Disease, Atypical is PSAP (Prosaposin). Affiliated tissues include brain.

Description from OMIM:49 611722

Related Diseases for Krabbe Disease, Atypical

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

idRelated DiseaseScoreTop Affiliating Genes
1krabbe disease9.9

Symptoms for Krabbe Disease, Atypical

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Symptoms by clinical synopsis from OMIM:

611722

Clinical features from OMIM:

611722

HPO human phenotypes related to Krabbe Disease, Atypical:

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

Drugs & Therapeutics for Krabbe Disease, Atypical

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Krabbe Disease, Atypical

Genetic Tests for Krabbe Disease, Atypical

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Genetic tests related to Krabbe Disease, Atypical:

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

Anatomical Context for Krabbe Disease, Atypical

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MalaCards organs/tissues related to Krabbe Disease, Atypical:

33
Brain

Animal Models for Krabbe Disease, Atypical or affiliated genes

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Publications for Krabbe Disease, Atypical

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Variations for Krabbe Disease, Atypical

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Clinvar genetic disease variations for Krabbe Disease, Atypical:

5
id Gene Variation Type Significance SNP ID Assembly Location
1PSAPPSAP, 3-BP DEL, 207TGTdeletionPathogenic

Expression for genes affiliated with Krabbe Disease, Atypical

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

Pathways for genes affiliated with Krabbe Disease, Atypical

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GO Terms for genes affiliated with Krabbe Disease, Atypical

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Sources for Krabbe Disease, Atypical

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet