MCID: KRB004
MIFTS: 21

Krabbe Disease, Atypical

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Krabbe Disease, Atypical

MalaCards integrated aliases for Krabbe Disease, Atypical:

Name: Krabbe Disease, Atypical 54 13
Krabbe Disease, Atypical, Due to Saposin a Deficiency 24 71 69
Saposin a Deficiency 50 24 71
Krabbe Disease Atypical Due to Saposin a Deficiency 50 29
Akrd 71

Characteristics:

OMIM:

54
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
early death


HPO:

32
krabbe disease, atypical:
Onset and clinical course infantile onset
Mortality/Aging death in childhood
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 611722
MedGen 40 C2673266
MeSH 42 D007965

Summaries for Krabbe Disease, Atypical

UniProtKB/Swiss-Prot : 71 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 respiratory failure. An important gene associated with Krabbe Disease, Atypical is PSAP (Prosaposin). Affiliated tissues include brain.

Description from OMIM: 611722

Related Diseases for Krabbe Disease, Atypical

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

id Related Disease Score Top Affiliating Genes
1 krabbe disease 9.7

Symptoms & Phenotypes for Krabbe Disease, Atypical

Symptoms via clinical synopsis from OMIM:

54

Neurologic- Central Nervous System:
hyporeflexia
increased csf protein
generalized brain atrophy
increased muscle tone
neurologic regression around age 3 months
more
Laboratory- Abnormalities:
decreased activity of galactocerebrosidase
saposin a deficiency

Respiratory:
respiratory failure
central apnea


Clinical features from OMIM:

611722

Human phenotypes related to Krabbe Disease, Atypical:

32 (show all 7)
id Description HPO Frequency HPO Source Accession
1 hyporeflexia 32 HP:0001265
2 hypertonia 32 HP:0001276
3 respiratory failure 32 HP:0002878
4 increased csf protein 32 HP:0002922
5 central apnea 32 HP:0002871
6 global brain atrophy 32 HP:0002283
7 cerebral dysmyelination 32 HP:0007266

Drugs & Therapeutics for Krabbe Disease, Atypical

Search Clinical Trials , NIH Clinical Center for Krabbe Disease, Atypical

Genetic Tests for Krabbe Disease, Atypical

Genetic tests related to Krabbe Disease, Atypical:

id Genetic test Affiliating Genes
1 Krabbe Disease Atypical Due to Saposin a Deficiency 29
2 Krabbe Disease, Atypical, Due to Saposin a Deficiency 24 PSAP

Anatomical Context for Krabbe Disease, Atypical

MalaCards organs/tissues related to Krabbe Disease, Atypical:

39
Brain

Publications for Krabbe Disease, Atypical

Variations for Krabbe Disease, Atypical

ClinVar genetic disease variations for Krabbe Disease, Atypical:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 PSAP PSAP, 3-BP DEL, 207TGT deletion Pathogenic

Expression for Krabbe Disease, Atypical

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

Pathways for Krabbe Disease, Atypical

GO Terms for Krabbe Disease, Atypical

Sources for Krabbe Disease, Atypical

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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