AKRD
MCID: KRB005
MIFTS: 19

Krabbe Disease, Atypical, Due to Saposin a Deficiency (AKRD)

Categories: Genetic diseases, Neuronal 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 58 76 74
Krabbe Disease Atypical Due to Saposin a Deficiency 54 30 6
Krabbe Disease, Atypical 58 13 41
Saposin a Deficiency 58 54 76
Akrd 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
early death


HPO:

33
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 58 611722
MeSH 45 D007965
MedGen 43 C2673266
UMLS 74 C2673266

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

UniProtKB/Swiss-Prot : 76 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 respiratory insufficiency 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 10.0

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

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

33 (show all 8)
# Description HPO Frequency HPO Source Accession
1 respiratory insufficiency 33 HP:0002093
2 hypertonia 33 HP:0001276
3 respiratory failure 33 HP:0002878
4 hyporeflexia 33 HP:0001265
5 increased csf protein 33 HP:0002922
6 central apnea 33 HP:0002871
7 global brain atrophy 33 HP:0002283
8 cerebral dysmyelination 33 HP:0007266

Symptoms via clinical synopsis from OMIM:

58
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

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 30 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:

42
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 rs1554879741 GRCh37 Chromosome 10, 73578850: 73578850
3 PSAP NM_001042465.2(PSAP): c.1378G> T (p.Glu460Ter) single nucleotide variant Pathogenic rs1554879741 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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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