MCID: KRB005
MIFTS: 19

Krabbe Disease, Atypical, Due to Saposin a Deficiency

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Krabbe Disease, Atypical, Due to Saposin a Deficiency

MalaCards integrated aliases for Krabbe Disease, Atypical, Due to Saposin a Deficiency:

Name: Krabbe Disease, Atypical, Due to Saposin a Deficiency 57 75 73
Krabbe Disease Atypical Due to Saposin a Deficiency 53 29 6
Krabbe Disease, Atypical 57 13 40
Saposin a Deficiency 57 53 75
Akrd 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
early death


HPO:

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


Classifications:



External Ids:

OMIM 57 611722
MedGen 42 C2673266
MeSH 44 D007965
UMLS 73 C2673266

Summaries for Krabbe Disease, Atypical, Due to Saposin a Deficiency

UniProtKB/Swiss-Prot : 75 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, Due to Saposin a Deficiency, also known as krabbe disease atypical due to saposin a deficiency, is related to krabbe disease. An important gene associated with Krabbe Disease, Atypical, Due to Saposin a Deficiency is PSAP (Prosaposin). Affiliated tissues include brain, and related phenotypes are hyporeflexia and hypertonia

Description from OMIM: 611722

Related Diseases for Krabbe Disease, Atypical, Due to Saposin a Deficiency

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

# Related Disease Score Top Affiliating Genes
1 krabbe disease 9.8

Symptoms & Phenotypes for Krabbe Disease, Atypical, Due to Saposin a Deficiency

Symptoms via clinical synopsis from OMIM:

57
Respiratory:
respiratory failure
central apnea

Laboratory Abnormalities:
decreased activity of galactocerebrosidase
saposin a deficiency

Neurologic Central Nervous System:
hyporeflexia
increased csf protein
increased muscle tone
generalized brain atrophy
neurologic regression around age 3 months
more

Clinical features from OMIM:

611722

Human phenotypes related to Krabbe Disease, Atypical, Due to Saposin a Deficiency:

32 (show all 8)
# Description HPO Frequency HPO Source Accession
1 hyporeflexia 32 HP:0001265
2 hypertonia 32 HP:0001276
3 respiratory insufficiency 32 HP:0002093
4 global brain atrophy 32 HP:0002283
5 central apnea 32 HP:0002871
6 respiratory failure 32 HP:0002878
7 increased csf protein 32 HP:0002922
8 cerebral dysmyelination 32 HP:0007266

Drugs & Therapeutics for Krabbe Disease, Atypical, Due to Saposin a Deficiency

Search Clinical Trials , NIH Clinical Center for Krabbe Disease, Atypical, Due to Saposin a Deficiency

Genetic Tests for Krabbe Disease, Atypical, Due to Saposin a Deficiency

Genetic tests related to Krabbe Disease, Atypical, Due to Saposin a Deficiency:

# Genetic test Affiliating Genes
1 Krabbe Disease Atypical Due to Saposin a Deficiency 29 PSAP

Anatomical Context for Krabbe Disease, Atypical, Due to Saposin a Deficiency

MalaCards organs/tissues related to Krabbe Disease, Atypical, Due to Saposin a Deficiency:

41
Brain

Publications for Krabbe Disease, Atypical, Due to Saposin a Deficiency

Articles related to Krabbe Disease, Atypical, Due to Saposin a Deficiency:

# Title Authors Year
1
A mutation in the saposin A coding region of the prosaposin gene in an infant presenting as Krabbe disease: first report of saposin A deficiency in humans. ( 15773042 )
2005

Variations for Krabbe Disease, Atypical, Due to Saposin a Deficiency

ClinVar genetic disease variations for Krabbe Disease, Atypical, Due to Saposin a Deficiency:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 PSAP PSAP, 3-BP DEL, 207TGT deletion Pathogenic
2 PSAP NM_001042465.2(PSAP): c.1378G> T (p.Glu460Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 10, 73578850: 73578850
3 PSAP NM_001042465.2(PSAP): c.1378G> T (p.Glu460Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 10, 71819093: 71819093

Expression for Krabbe Disease, Atypical, Due to Saposin a Deficiency

Search GEO for disease gene expression data for Krabbe Disease, Atypical, Due to Saposin a Deficiency.

Pathways for Krabbe Disease, Atypical, Due to Saposin a Deficiency

GO Terms for Krabbe Disease, Atypical, Due to Saposin a Deficiency

Sources for Krabbe Disease, Atypical, Due to Saposin a Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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