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 51 12
Krabbe Disease, Atypical, Due to Saposin a Deficiency 24 69 26 67
Saposin a Deficiency 47 24 69
 
Krabbe Disease Atypical Due to Saposin a Deficiency 47
Akrd 69

Characteristics:

HPO:

63
krabbe disease, atypical:
Inheritance: autosomal recessive inheritance
Onset and clinical course: infantile onset
Mortality/Aging: death in childhood

Classifications:



External Ids:

OMIM51 611722
MedGen36 C2673266
MeSH38 D007965

Summaries for Krabbe Disease, Atypical

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UniProtKB/Swiss-Prot:69 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:51 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 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:

 63 (show all 7)
id Description HPO Frequency HPO Source Accession
1 hyporeflexia63 HP:0001265
2 hypertonia63 HP:0001276
3 global brain atrophy63 HP:0002283
4 central apnea63 HP:0002871
5 respiratory failure63 HP:0002878
6 increased csf protein63 HP:0002922
7 cerebral dysmyelination63 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 Deficiency26
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:

35
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, 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
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet