MCID: GCH010
MIFTS: 21

Gaucher Disease, Atypical, Due to Saposin C Deficiency

Categories: Genetic diseases, Rare diseases, Metabolic diseases

Aliases & Classifications for Gaucher Disease, Atypical, Due to Saposin C Deficiency

MalaCards integrated aliases for Gaucher Disease, Atypical, Due to Saposin C Deficiency:

Name: Gaucher Disease, Atypical, Due to Saposin C Deficiency 57 75 29 6
Gaucher Disease, Atypical 57 53 13 40
Atypical Gaucher Disease Due to Saposin C Deficiency 53 59
Atypical Gaucher's Disease Due to Saposin C Deficiency 12
Atypical Gaucher Disease 6
Agd 75

Characteristics:

HPO:

32
gaucher disease, atypical, due to saposin c deficiency:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Inborn errors of metabolism


External Ids:

OMIM 57 610539
Disease Ontology 12 DOID:0110961
ICD10 33 E75.2
Orphanet 59 ORPHA309252
UMLS via Orphanet 74 C1864651
ICD10 via Orphanet 34 E75.2
MedGen 42 C1864651
MeSH 44 D005776

Summaries for Gaucher Disease, Atypical, Due to Saposin C Deficiency

UniProtKB/Swiss-Prot : 75 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, Due to Saposin C Deficiency, also known as gaucher disease, atypical, is related to gaucher disease, type i and gaucher's disease. An important gene associated with Gaucher Disease, Atypical, Due to Saposin C Deficiency is PSAP (Prosaposin). Affiliated tissues include spleen, and related phenotypes are osteopenia and seizures

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, Due to Saposin C Deficiency

Diseases related to Gaucher Disease, Atypical, Due to Saposin C Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 gaucher disease, type i 11.0
2 gaucher's disease 9.7

Symptoms & Phenotypes for Gaucher Disease, Atypical, Due to Saposin C Deficiency

Clinical features from OMIM:

610539

Human phenotypes related to Gaucher Disease, Atypical, Due to Saposin C Deficiency:

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

Drugs & Therapeutics for Gaucher Disease, Atypical, Due to Saposin C Deficiency

Search Clinical Trials , NIH Clinical Center for Gaucher Disease, Atypical, Due to Saposin C Deficiency

Genetic Tests for Gaucher Disease, Atypical, Due to Saposin C Deficiency

Genetic tests related to Gaucher Disease, Atypical, Due to Saposin C Deficiency:

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

Anatomical Context for Gaucher Disease, Atypical, Due to Saposin C Deficiency

MalaCards organs/tissues related to Gaucher Disease, Atypical, Due to Saposin C Deficiency:

41
Spleen

Publications for Gaucher Disease, Atypical, Due to Saposin C Deficiency

Variations for Gaucher Disease, Atypical, Due to Saposin C Deficiency

UniProtKB/Swiss-Prot genetic disease variations for Gaucher Disease, Atypical, Due to Saposin C Deficiency:

75
# 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, Due to Saposin C Deficiency:

6
(show top 50) (show all 172)
# 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.1154G> T (p.Cys385Phe) single nucleotide variant Pathogenic rs121918105 GRCh38 Chromosome 10, 71819761: 71819761
3 PSAP NM_001042465.2(PSAP): c.1A> T (p.Met1Leu) single nucleotide variant Pathogenic rs121918106 GRCh37 Chromosome 10, 73610978: 73610978
4 PSAP NM_001042465.2(PSAP): c.1A> T (p.Met1Leu) single nucleotide variant Pathogenic rs121918106 GRCh38 Chromosome 10, 71851221: 71851221
5 PSAP NM_001042465.2(PSAP): c.1153T> G (p.Cys385Gly) single nucleotide variant Pathogenic rs121918108 GRCh37 Chromosome 10, 73579519: 73579519
6 PSAP NM_001042465.2(PSAP): c.1153T> G (p.Cys385Gly) single nucleotide variant Pathogenic rs121918108 GRCh38 Chromosome 10, 71819762: 71819762
7 PSAP NM_001042465.2(PSAP): c.1297C> T (p.Gln433Ter) single nucleotide variant Pathogenic rs121918109 GRCh37 Chromosome 10, 73579284: 73579284
8 PSAP NM_001042465.2(PSAP): c.1297C> T (p.Gln433Ter) single nucleotide variant Pathogenic rs121918109 GRCh38 Chromosome 10, 71819527: 71819527
9 PSAP NM_001042465.2(PSAP): c.1055T> C (p.Leu352Pro) single nucleotide variant Pathogenic rs121918110 GRCh37 Chromosome 10, 73579617: 73579617
10 PSAP NM_001042465.2(PSAP): c.1055T> C (p.Leu352Pro) single nucleotide variant Pathogenic rs121918110 GRCh38 Chromosome 10, 71819860: 71819860
11 CDH23; PSAP NM_022124.5(CDH23): c.9510+13C> T single nucleotide variant Benign/Likely benign rs183692794 GRCh37 Chromosome 10, 73572379: 73572379
12 CDH23; PSAP NM_022124.5(CDH23): c.9510+13C> T single nucleotide variant Benign/Likely benign rs183692794 GRCh38 Chromosome 10, 71812622: 71812622
13 CDH23; PSAP NM_022124.5(CDH23): c.9629T> C (p.Ile3210Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs144688588 GRCh37 Chromosome 10, 73572643: 73572643
14 CDH23; PSAP NM_022124.5(CDH23): c.9629T> C (p.Ile3210Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs144688588 GRCh38 Chromosome 10, 71812886: 71812886
15 CDH23; PSAP NM_022124.5(CDH23): c.10026C> T (p.Asp3342=) single nucleotide variant Conflicting interpretations of pathogenicity rs377118941 GRCh37 Chromosome 10, 73574996: 73574996
16 CDH23; PSAP NM_022124.5(CDH23): c.10026C> T (p.Asp3342=) single nucleotide variant Conflicting interpretations of pathogenicity rs377118941 GRCh38 Chromosome 10, 71815239: 71815239
17 PSAP NM_002778.3(PSAP): c.1380C> T (p.Pro460=) single nucleotide variant Likely benign rs1049882 GRCh38 Chromosome 10, 71819082: 71819082
18 PSAP NM_002778.3(PSAP): c.1380C> T (p.Pro460=) single nucleotide variant Likely benign rs1049882 GRCh37 Chromosome 10, 73578839: 73578839
19 CDH23; PSAP NM_002778.3(PSAP): c.1350+5G> A single nucleotide variant Benign/Likely benign rs11000016 GRCh38 Chromosome 10, 71819460: 71819460
20 CDH23; PSAP NM_002778.3(PSAP): c.1350+5G> A single nucleotide variant Benign/Likely benign rs11000016 GRCh37 Chromosome 10, 73579217: 73579217
21 PSAP NM_002778.3(PSAP): c.-4C> T single nucleotide variant Benign rs2070188 GRCh38 Chromosome 10, 71851225: 71851225
22 PSAP NM_002778.3(PSAP): c.-4C> T single nucleotide variant Benign rs2070188 GRCh37 Chromosome 10, 73610982: 73610982
23 PSAP NM_002778.3(PSAP): c.-10A> G single nucleotide variant Likely benign rs76455588 GRCh38 Chromosome 10, 71851231: 71851231
24 PSAP NM_002778.3(PSAP): c.-10A> G single nucleotide variant Likely benign rs76455588 GRCh37 Chromosome 10, 73610988: 73610988
25 PSAP NM_002778.3(PSAP): c.-28A> C single nucleotide variant Likely benign rs375720661 GRCh38 Chromosome 10, 71851249: 71851249
26 PSAP NM_002778.3(PSAP): c.-28A> C single nucleotide variant Likely benign rs375720661 GRCh37 Chromosome 10, 73611006: 73611006
27 CDH23; PSAP NM_022124.5(CDH23): c.9739-12G> A single nucleotide variant Conflicting interpretations of pathogenicity rs200638595 GRCh38 Chromosome 10, 71814940: 71814940
28 CDH23; PSAP NM_022124.5(CDH23): c.9739-12G> A single nucleotide variant Conflicting interpretations of pathogenicity rs200638595 GRCh37 Chromosome 10, 73574697: 73574697
29 CDH23; PSAP NM_022124.5(CDH23): c.*68G> C single nucleotide variant Conflicting interpretations of pathogenicity rs527311705 GRCh37 Chromosome 10, 73575103: 73575103
30 CDH23; PSAP NM_022124.5(CDH23): c.*68G> C single nucleotide variant Conflicting interpretations of pathogenicity rs527311705 GRCh38 Chromosome 10, 71815346: 71815346
31 PSAP NM_002778.3(PSAP): c.*276G> A single nucleotide variant Likely benign rs547409137 GRCh37 Chromosome 10, 73576922: 73576922
32 PSAP NM_002778.3(PSAP): c.*276G> A single nucleotide variant Likely benign rs547409137 GRCh38 Chromosome 10, 71817165: 71817165
33 PSAP NM_002778.3(PSAP): c.*122C> G single nucleotide variant Likely benign rs113284884 GRCh37 Chromosome 10, 73577076: 73577076
34 PSAP NM_002778.3(PSAP): c.*122C> G single nucleotide variant Likely benign rs113284884 GRCh38 Chromosome 10, 71817319: 71817319
35 PSAP NM_002778.3(PSAP): c.*113C> T single nucleotide variant Uncertain significance rs544214520 GRCh37 Chromosome 10, 73577085: 73577085
36 PSAP NM_002778.3(PSAP): c.*113C> T single nucleotide variant Uncertain significance rs544214520 GRCh38 Chromosome 10, 71817328: 71817328
37 PSAP NM_002778.3(PSAP): c.*73C> T single nucleotide variant Likely benign rs541692197 GRCh37 Chromosome 10, 73577125: 73577125
38 PSAP NM_002778.3(PSAP): c.*73C> T single nucleotide variant Likely benign rs541692197 GRCh38 Chromosome 10, 71817368: 71817368
39 PSAP NM_002778.3(PSAP): c.1476T> C (p.Thr492=) single nucleotide variant Likely benign rs139178900 GRCh37 Chromosome 10, 73578437: 73578437
40 PSAP NM_002778.3(PSAP): c.1476T> C (p.Thr492=) single nucleotide variant Likely benign rs139178900 GRCh38 Chromosome 10, 71818680: 71818680
41 PSAP NM_002778.3(PSAP): c.1432-4A> G single nucleotide variant Uncertain significance rs775086571 GRCh37 Chromosome 10, 73578485: 73578485
42 PSAP NM_002778.3(PSAP): c.1432-4A> G single nucleotide variant Uncertain significance rs775086571 GRCh38 Chromosome 10, 71818728: 71818728
43 PSAP NM_002778.3(PSAP): c.1172C> T (p.Thr391Met) single nucleotide variant Uncertain significance rs202125074 GRCh37 Chromosome 10, 73579491: 73579491
44 PSAP NM_002778.3(PSAP): c.1172C> T (p.Thr391Met) single nucleotide variant Uncertain significance rs202125074 GRCh38 Chromosome 10, 71819734: 71819734
45 PSAP NM_002778.3(PSAP): c.1056C> T (p.Ser352=) single nucleotide variant Likely benign rs138328594 GRCh37 Chromosome 10, 73579607: 73579607
46 PSAP NM_002778.3(PSAP): c.1056C> T (p.Ser352=) single nucleotide variant Likely benign rs138328594 GRCh38 Chromosome 10, 71819850: 71819850
47 PSAP NM_002778.3(PSAP): c.911A> G (p.Lys304Arg) single nucleotide variant Uncertain significance rs757553906 GRCh37 Chromosome 10, 73580091: 73580091
48 PSAP NM_002778.3(PSAP): c.911A> G (p.Lys304Arg) single nucleotide variant Uncertain significance rs757553906 GRCh38 Chromosome 10, 71820334: 71820334
49 PSAP NM_002778.3(PSAP): c.380G> A (p.Arg127His) single nucleotide variant Uncertain significance rs886047151 GRCh38 Chromosome 10, 71829073: 71829073
50 PSAP NM_002778.3(PSAP): c.380G> A (p.Arg127His) single nucleotide variant Uncertain significance rs886047151 GRCh37 Chromosome 10, 73588830: 73588830

Expression for Gaucher Disease, Atypical, Due to Saposin C Deficiency

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