MCID: GCH014
MIFTS: 20

Gaucher Disease, Atypical malady

Categories: Genetic diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Gaucher Disease, Atypical

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Aliases & Descriptions for Gaucher Disease, Atypical:

Name: Gaucher Disease, Atypical 50 12
Gaucher Disease, Atypical, Due to Saposin C Deficiency 50 23 68
Atypical Gaucher Disease Due to Saposin C Deficiency 52 25
 
Saposin C Deficiency 23
Agd 68

Characteristics:

HPO:

62
gaucher disease, atypical:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM50 610539
Orphanet52 ORPHA309252
ICD10 via Orphanet29 E75.2
MedGen35 C1864651
MeSH37 D005776

Summaries for Gaucher Disease, Atypical

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UniProtKB/Swiss-Prot:68 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 osteopenia, seizures and myoclonus. An important gene associated with Gaucher Disease, Atypical is PSAP (Prosaposin). Affiliated tissues include spleen.

Description from OMIM:50 610539

Related Diseases for Gaucher Disease, Atypical

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Symptoms for Gaucher Disease, Atypical

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Clinical features from OMIM:

610539

HPO human phenotypes related to Gaucher Disease, Atypical:

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

Drugs & Therapeutics for Gaucher Disease, Atypical

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Gaucher Disease, Atypical

Genetic Tests for Gaucher Disease, Atypical

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Genetic tests related to Gaucher Disease, Atypical:

id Genetic test Affiliating Genes
1 Gaucher Disease, Atypical, Due to Saposin C Deficiency25 23 PSAP

Anatomical Context for Gaucher Disease, Atypical

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MalaCards organs/tissues related to Gaucher Disease, Atypical:

34
Spleen

Animal Models for Gaucher Disease, Atypical or affiliated genes

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Publications for Gaucher Disease, Atypical

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Variations for Gaucher Disease, Atypical

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

68
id Symbol AA change Variation ID SNP ID
1PSAPp.Cys388PheVAR_006945
2PSAPp.Leu349ProVAR_042441rs121918110

Clinvar genetic disease variations for Gaucher Disease, Atypical:

5
id Gene Variation Type Significance SNP ID Assembly Location
1PSAPNM_001042465.2(PSAP): c.1154G> T (p.Cys385Phe)single nucleotide variantPathogenicrs121918105GRCh37Chr 10, 73579518: 73579518
2PSAPNM_001042465.2(PSAP): c.1A> T (p.Met1Leu)single nucleotide variantPathogenicrs121918106GRCh37Chr 10, 73610978: 73610978
3PSAPNM_001042465.2(PSAP): c.1153T> G (p.Cys385Gly)single nucleotide variantPathogenicrs121918108GRCh37Chr 10, 73579519: 73579519
4PSAPNM_001042465.2(PSAP): c.1297C> T (p.Gln433Ter)single nucleotide variantPathogenicrs121918109GRCh37Chr 10, 73579284: 73579284
5PSAPNM_001042465.2(PSAP): c.1055T> C (p.Leu352Pro)single nucleotide variantPathogenicrs121918110GRCh37Chr 10, 73579617: 73579617

Expression for genes affiliated with Gaucher Disease, Atypical

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

Pathways for genes affiliated with Gaucher Disease, Atypical

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GO Terms for genes affiliated with Gaucher Disease, Atypical

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Sources for Gaucher Disease, Atypical

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet