MCID: GCH014
MIFTS: 17

Gaucher Disease, Atypical malady

Genetic diseases, Metabolic diseases, Rare diseases categories

Aliases & Classifications for Gaucher Disease, Atypical

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Sources:
46OMIM, 9diseasecard, 20GeneTests, 48Orphanet, 22GTR, 26ICD10 via Orphanet
See all sources

Aliases & Descriptions for Gaucher Disease, Atypical:

Name: Gaucher Disease, Atypical 46 9
Atypical Gaucher Disease Due to Saposin C Deficiency 48 22
 
Gaucher Disease, Atypical, Due to Saposin C Deficiency 20


Classifications:



External Ids:

OMIM46 610539
Orphanet48 309252
ICD10 via Orphanet26 E75.2

Summaries for Gaucher Disease, Atypical

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MalaCards based summary: Gaucher Disease, Atypical, is also known as atypical gaucher disease due to saposin c deficiency, and has symptoms including autosomal recessive inheritance, osteopenia and seizures. An important gene associated with Gaucher Disease, Atypical is PSAP (prosaposin).

Description from OMIM:46 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 9)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 osteopenia HP:0000938
3 seizures HP:0001250
4 myoclonus HP:0001336
5 hepatosplenomegaly HP:0001433
6 thrombocytopenia HP:0001873
7 anemia HP:0001903
8 erlenmeyer flask deformity of the femurs HP:0004975
9 increased cerebral lipofuscin HP:0011813

Drugs & Therapeutics for Gaucher Disease, Atypical

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Drug clinical trials:

Search ClinicalTrials for Gaucher Disease, Atypical

Search 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 Deficiency20 22 PSAP

Anatomical Context for Gaucher Disease, Atypical

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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:

63
id Symbol AA change Variation ID SNP ID
1PSAPp.Cys388PheVAR_006945
2PSAPp.Leu349ProVAR_042441

Clinvar genetic disease variations for Gaucher Disease, Atypical:

5
id Gene Variation Type Significance SNP ID Assembly Location
1PSAPNM_001042465.1(PSAP): c.1154G> T (p.Cys385Phe)single nucleotide variantPathogenicrs121918105GRCh37Chr 10, 73579518: 73579518
2PSAPNM_001042465.1(PSAP): c.1A> T (p.Met1Leu)single nucleotide variantPathogenicrs121918106GRCh37Chr 10, 73610978: 73610978
3PSAPNM_001042465.1(PSAP): c.1153T> G (p.Cys385Gly)single nucleotide variantPathogenicrs121918108GRCh37Chr 10, 73579519: 73579519
4PSAPNM_001042465.1(PSAP): c.1297C> T (p.Gln433Ter)single nucleotide variantPathogenicrs121918109GRCh37Chr 10, 73579284: 73579284
5PSAPNM_001042465.1(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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Compounds 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
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet