MCID: KRB004
MIFTS: 19

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 52 12
Krabbe Disease, Atypical, Due to Saposin a Deficiency 24 70 27 68
Saposin a Deficiency 48 24 70
 
Krabbe Disease Atypical Due to Saposin a Deficiency 48
Akrd 70

Characteristics:

HPO:

64
krabbe disease, atypical:
Inheritance: autosomal recessive inheritance
Onset and clinical course: infantile onset
Mortality/Aging: death in childhood

Classifications:



External Ids:

OMIM52 611722
MedGen37 C2673266
MeSH39 D007965

Summaries for Krabbe Disease, Atypical

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UniProtKB/Swiss-Prot:70 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:52 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 disease9.7

Symptoms & Phenotypes for Krabbe Disease, Atypical

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Symptoms by clinical synopsis from OMIM:

611722

Clinical features from OMIM:

611722

Human phenotypes related to Krabbe Disease, Atypical:

 64 (show all 7)
id Description HPO Frequency HPO Source Accession
1 hyporeflexia64 HP:0001265
2 hypertonia64 HP:0001276
3 global brain atrophy64 HP:0002283
4 central apnea64 HP:0002871
5 respiratory failure64 HP:0002878
6 increased csf protein64 HP:0002922
7 cerebral dysmyelination64 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 Deficiency27
2 Krabbe Disease, Atypical, Due to Saposin a Deficiency24 PSAP

Anatomical Context for Krabbe Disease, Atypical

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MalaCards organs/tissues related to Krabbe Disease, Atypical:

36
Brain

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, 207TGTdeletionPathogenicChr na, -1: -1

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
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet