MCID: GCH014
MIFTS: 20

Gaucher Disease, Atypical malady

Categories: Genetic diseases, Rare diseases, Metabolic diseases

Aliases & Classifications for Gaucher Disease, Atypical

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Aliases & Descriptions for Gaucher Disease, Atypical:

Name: Gaucher Disease, Atypical 51 47 12
Gaucher Disease, Atypical, Due to Saposin C Deficiency 51 24 69
Atypical Gaucher Disease Due to Saposin C Deficiency 47 53 26
 
Saposin C Deficiency 24
Agd 69

Characteristics:

HPO:

63
gaucher disease, atypical:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM51 610539
Orphanet53 ORPHA309252
ICD10 via Orphanet30 E75.2
MedGen36 C1864651
MeSH38 D005776

Summaries for Gaucher Disease, Atypical

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UniProtKB/Swiss-Prot:69 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:51 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

Human phenotypes related to Gaucher Disease, Atypical:

 63 (show all 8)
id Description HPO Frequency HPO Source Accession
1 osteopenia63 HP:0000938
2 seizures63 HP:0001250
3 myoclonus63 HP:0001336
4 hepatosplenomegaly63 HP:0001433
5 thrombocytopenia63 HP:0001873
6 anemia63 HP:0001903
7 erlenmeyer flask deformity of the femurs63 HP:0004975
8 increased cerebral lipofuscin63 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 Deficiency26 24 PSAP

Anatomical Context for Gaucher Disease, Atypical

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MalaCards organs/tissues related to Gaucher Disease, Atypical:

35
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:

69
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)SNVPathogenicrs121918105GRCh37Chr 10, 73579518: 73579518
2PSAPNM_001042465.2(PSAP): c.1A> T (p.Met1Leu)SNVPathogenicrs121918106GRCh37Chr 10, 73610978: 73610978
3PSAPNM_001042465.2(PSAP): c.1153T> G (p.Cys385Gly)SNVPathogenicrs121918108GRCh37Chr 10, 73579519: 73579519
4PSAPNM_001042465.2(PSAP): c.1297C> T (p.Gln433Ter)SNVPathogenicrs121918109GRCh37Chr 10, 73579284: 73579284
5PSAPNM_001042465.2(PSAP): c.1055T> C (p.Leu352Pro)SNVPathogenicrs121918110GRCh37Chr 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
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet