MCID: GCH014
MIFTS: 22

Gaucher Disease, Atypical

Categories: Genetic diseases, Rare diseases, Metabolic diseases

Aliases & Classifications for Gaucher Disease, Atypical

MalaCards integrated aliases for Gaucher Disease, Atypical:

Name: Gaucher Disease, Atypical 54 50 13
Gaucher Disease, Atypical, Due to Saposin C Deficiency 24 71 29
Atypical Gaucher Disease Due to Saposin C Deficiency 50 56
Atypical Gaucher's Disease Due to Saposin C Deficiency 12
Saposin C Deficiency 24
Agd 71

Characteristics:

HPO:

32
gaucher disease, atypical:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 56  
Inborn errors of metabolism


External Ids:

OMIM 54 610539
Disease Ontology 12 DOID:0110961
ICD10 33 E75.2
Orphanet 56 ORPHA309252
UMLS via Orphanet 70 C1864651
ICD10 via Orphanet 34 E75.2
MedGen 40 C1864651
MeSH 42 D005776

Summaries for Gaucher Disease, Atypical

UniProtKB/Swiss-Prot : 71 Gaucher disease, atypical, due to saposin C deficiency: A disease characterized by marked glucosylceramide accumulation in the spleen without having a deficiency of glucosylceramide-beta glucosidase characteristic of classic Gaucher disease. Gaucher disease is a lysosomal storage disorder characterized by skeletal deterioration, hepatosplenomegaly, and organ dysfunction. There are several subtypes based on the presence and severity of neurological involvement.

MalaCards based summary : Gaucher Disease, Atypical, is also known as gaucher disease, atypical, due to saposin c deficiency, and has symptoms including myoclonus, seizures and thrombocytopenia. An important gene associated with Gaucher Disease, Atypical is PSAP (Prosaposin). Affiliated tissues include spleen.

Disease Ontology : 12 A Gaucher's disease that has material basis in an autosomal recessive mutation of PSAP on chromosome 10q22.1.

Description from OMIM: 610539

Related Diseases for Gaucher Disease, Atypical

Symptoms & Phenotypes for Gaucher Disease, Atypical

Clinical features from OMIM:

610539

Human phenotypes related to Gaucher Disease, Atypical:

32 (show all 8)
id Description HPO Frequency HPO Source Accession
1 myoclonus 32 HP:0001336
2 seizures 32 HP:0001250
3 thrombocytopenia 32 HP:0001873
4 anemia 32 HP:0001903
5 osteopenia 32 HP:0000938
6 hepatosplenomegaly 32 HP:0001433
7 erlenmeyer flask deformity of the femurs 32 HP:0004975
8 increased cerebral lipofuscin 32 HP:0011813

Drugs & Therapeutics for Gaucher Disease, Atypical

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

Genetic Tests for Gaucher Disease, Atypical

Genetic tests related to Gaucher Disease, Atypical:

id Genetic test Affiliating Genes
1 Gaucher Disease, Atypical, Due to Saposin C Deficiency 29 24 PSAP

Anatomical Context for Gaucher Disease, Atypical

MalaCards organs/tissues related to Gaucher Disease, Atypical:

39
Spleen

Publications for Gaucher Disease, Atypical

Variations for Gaucher Disease, Atypical

UniProtKB/Swiss-Prot genetic disease variations for Gaucher Disease, Atypical:

71
id Symbol AA change Variation ID SNP ID
1 PSAP p.Cys388Phe VAR_006945
2 PSAP p.Leu349Pro VAR_042441 rs121918110

ClinVar genetic disease variations for Gaucher Disease, Atypical:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 PSAP NM_001042465.2(PSAP): c.1154G> T (p.Cys385Phe) single nucleotide variant Pathogenic rs121918105 GRCh37 Chromosome 10, 73579518: 73579518
2 PSAP NM_001042465.2(PSAP): c.1A> T (p.Met1Leu) single nucleotide variant Pathogenic rs121918106 GRCh37 Chromosome 10, 73610978: 73610978
3 PSAP NM_001042465.2(PSAP): c.1153T> G (p.Cys385Gly) single nucleotide variant Pathogenic rs121918108 GRCh37 Chromosome 10, 73579519: 73579519
4 PSAP NM_001042465.2(PSAP): c.1297C> T (p.Gln433Ter) single nucleotide variant Pathogenic rs121918109 GRCh37 Chromosome 10, 73579284: 73579284
5 PSAP NM_001042465.2(PSAP): c.1055T> C (p.Leu352Pro) single nucleotide variant Pathogenic rs121918110 GRCh37 Chromosome 10, 73579617: 73579617

Expression for Gaucher Disease, Atypical

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

Pathways for Gaucher Disease, Atypical

GO Terms for Gaucher Disease, Atypical

Sources for Gaucher 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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