MCID: KRB004
MIFTS: 21

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 50 12
Krabbe Disease, Atypical, Due to Saposin a Deficiency 23 68 25 66
Saposin a Deficiency 46 23 68
 
Krabbe Disease Atypical Due to Saposin a Deficiency 46
Akrd 68

Characteristics:

HPO:

62
krabbe disease, atypical:
Inheritance: autosomal recessive inheritance
Onset and clinical course: infantile onset
Mortality/Aging: death in childhood


Classifications:



External Ids:

OMIM50 611722
MedGen35 C2673266
MeSH37 D007965

Summaries for Krabbe Disease, Atypical

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UniProtKB/Swiss-Prot:68 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 leukodystrophy and 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:50 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
1leukodystrophy9.9
2krabbe 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 Deficiency25
2 Krabbe Disease, Atypical, Due to Saposin a Deficiency23 PSAP

Anatomical Context for Krabbe Disease, Atypical

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MalaCards organs/tissues related to Krabbe Disease, Atypical:

34
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
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet