AGD
MCID: GCH010
MIFTS: 23

Gaucher Disease, Atypical, Due to Saposin C Deficiency (AGD)

Categories: Genetic diseases, Metabolic diseases, Rare 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 58 76 30 6
Gaucher Disease, Atypical 58 54 13 41
Atypical Gaucher Disease Due to Saposin C Deficiency 54 60
Atypical Gaucher's Disease Due to Saposin C Deficiency 12
Atypical Gaucher Disease 6
Agd 76

Characteristics:

HPO:

33
gaucher disease, atypical, due to saposin c deficiency:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 60  
Inborn errors of metabolism


External Ids:

Disease Ontology 12 DOID:0110961
OMIM 58 610539
MeSH 45 D005776
ICD10 34 E75.2
ICD10 via Orphanet 35 E75.2
UMLS via Orphanet 75 C1864651
Orphanet 60 ORPHA309252
MedGen 43 C1864651

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

UniProtKB/Swiss-Prot : 76 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 disorganization, mouse, homolog of. 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 11.2
2 disorganization, mouse, homolog of 10.1
3 cardiac arrest 10.1
4 echinococcosis 10.1
5 acute cholinergic dysautonomia 10.1
6 gaucher's disease 9.9
7 sphingolipidosis 9.9

Graphical network of the top 20 diseases related to Gaucher Disease, Atypical, Due to Saposin C Deficiency:



Diseases related to Gaucher Disease, Atypical, Due to Saposin C Deficiency

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

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

33 (show all 8)
# Description HPO Frequency HPO Source Accession
1 osteopenia 33 HP:0000938
2 seizures 33 HP:0001250
3 anemia 33 HP:0001903
4 myoclonus 33 HP:0001336
5 thrombocytopenia 33 HP:0001873
6 hepatosplenomegaly 33 HP:0001433
7 erlenmeyer flask deformity of the femurs 33 HP:0004975
8 increased cerebral lipofuscin 33 HP:0011813

Clinical features from OMIM:

610539

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 30 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:

42
Spleen

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

Articles related to Gaucher Disease, Atypical, Due to Saposin C Deficiency:

# Title Authors Year
1
Sphingolipid activator protein deficiency in a 16-week-old atypical Gaucher disease patient and his fetal sibling: biochemical signs of combined sphingolipidoses. ( 2514102 )
1989

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:

76
# 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 190)
# Gene Variation Type Significance SNP ID Assembly Location
1 CDH23; PSAP NM_022124.5(CDH23): c.9510+13C> T single nucleotide variant Benign/Likely benign rs183692794 GRCh38 Chromosome 10, 71812622: 71812622
2 CDH23; PSAP NM_022124.5(CDH23): c.9510+13C> T single nucleotide variant Benign/Likely benign rs183692794 GRCh37 Chromosome 10, 73572379: 73572379
3 CDH23; PSAP NM_022124.5(CDH23): c.9629T> C (p.Ile3210Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs144688588 GRCh38 Chromosome 10, 71812886: 71812886
4 CDH23; PSAP NM_022124.5(CDH23): c.9629T> C (p.Ile3210Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs144688588 GRCh37 Chromosome 10, 73572643: 73572643
5 CDH23; PSAP NM_022124.5(CDH23): c.10026C> T (p.Asp3342=) single nucleotide variant Conflicting interpretations of pathogenicity rs377118941 GRCh38 Chromosome 10, 71815239: 71815239
6 CDH23; PSAP NM_022124.5(CDH23): c.10026C> T (p.Asp3342=) single nucleotide variant Conflicting interpretations of pathogenicity rs377118941 GRCh37 Chromosome 10, 73574996: 73574996
7 PSAP NM_001042465.2(PSAP): c.1154G> T (p.Cys385Phe) single nucleotide variant Pathogenic rs121918105 GRCh37 Chromosome 10, 73579518: 73579518
8 PSAP NM_001042465.2(PSAP): c.1154G> T (p.Cys385Phe) single nucleotide variant Pathogenic rs121918105 GRCh38 Chromosome 10, 71819761: 71819761
9 PSAP NM_001042465.2(PSAP): c.1A> T (p.Met1Leu) single nucleotide variant Pathogenic rs121918106 GRCh37 Chromosome 10, 73610978: 73610978
10 PSAP NM_001042465.2(PSAP): c.1A> T (p.Met1Leu) single nucleotide variant Pathogenic rs121918106 GRCh38 Chromosome 10, 71851221: 71851221
11 PSAP NM_001042465.2(PSAP): c.1153T> G (p.Cys385Gly) single nucleotide variant Pathogenic rs121918108 GRCh37 Chromosome 10, 73579519: 73579519
12 PSAP NM_001042465.2(PSAP): c.1153T> G (p.Cys385Gly) single nucleotide variant Pathogenic rs121918108 GRCh38 Chromosome 10, 71819762: 71819762
13 PSAP NM_001042465.2(PSAP): c.1297C> T (p.Gln433Ter) single nucleotide variant Pathogenic rs121918109 GRCh37 Chromosome 10, 73579284: 73579284
14 PSAP NM_001042465.2(PSAP): c.1297C> T (p.Gln433Ter) single nucleotide variant Pathogenic rs121918109 GRCh38 Chromosome 10, 71819527: 71819527
15 PSAP NM_001042465.2(PSAP): c.1055T> C (p.Leu352Pro) single nucleotide variant Pathogenic rs121918110 GRCh37 Chromosome 10, 73579617: 73579617
16 PSAP NM_001042465.2(PSAP): c.1055T> C (p.Leu352Pro) single nucleotide variant Pathogenic rs121918110 GRCh38 Chromosome 10, 71819860: 71819860
17 CDH23; PSAP NM_022124.5(CDH23): c.9319+11G> A single nucleotide variant Benign/Likely benign rs11000013 GRCh37 Chromosome 10, 73571521: 73571521
18 CDH23; PSAP NM_022124.5(CDH23): c.9319+11G> A single nucleotide variant Benign/Likely benign rs11000013 GRCh38 Chromosome 10, 71811764: 71811764
19 CDH23; PSAP NM_022124.5(CDH23): c.9373T> C (p.Phe3125Leu) single nucleotide variant Benign/Likely benign rs45583140 GRCh37 Chromosome 10, 73571765: 73571765
20 CDH23; PSAP NM_022124.5(CDH23): c.9373T> C (p.Phe3125Leu) single nucleotide variant Benign/Likely benign rs45583140 GRCh38 Chromosome 10, 71812008: 71812008
21 CDH23; PSAP NM_022124.5(CDH23): c.9501G> A (p.Thr3167=) single nucleotide variant Benign/Likely benign rs144906721 GRCh37 Chromosome 10, 73572357: 73572357
22 CDH23; PSAP NM_022124.5(CDH23): c.9501G> A (p.Thr3167=) single nucleotide variant Benign/Likely benign rs144906721 GRCh38 Chromosome 10, 71812600: 71812600
23 CDH23; PSAP NM_022124.5(CDH23): c.9758A> C (p.Asp3253Ala) single nucleotide variant Benign/Likely benign rs140463385 GRCh37 Chromosome 10, 73574728: 73574728
24 CDH23; PSAP NM_022124.5(CDH23): c.9758A> C (p.Asp3253Ala) single nucleotide variant Benign/Likely benign rs140463385 GRCh38 Chromosome 10, 71814971: 71814971
25 CDH23; PSAP NM_022124.5(CDH23): c.9873G> A (p.Thr3291=) single nucleotide variant Benign/Likely benign rs2290021 GRCh37 Chromosome 10, 73574843: 73574843
26 CDH23; PSAP NM_022124.5(CDH23): c.9873G> A (p.Thr3291=) single nucleotide variant Benign/Likely benign rs2290021 GRCh38 Chromosome 10, 71815086: 71815086
27 CDH23; PSAP NM_022124.5(CDH23): c.9903C> T (p.Pro3301=) single nucleotide variant Benign/Likely benign rs55717455 GRCh37 Chromosome 10, 73574873: 73574873
28 CDH23; PSAP NM_022124.5(CDH23): c.9903C> T (p.Pro3301=) single nucleotide variant Benign/Likely benign rs55717455 GRCh38 Chromosome 10, 71815116: 71815116
29 CDH23; PSAP NM_022124.5(CDH23): c.9978C> T (p.Asn3326=) single nucleotide variant Benign rs73277900 GRCh37 Chromosome 10, 73574948: 73574948
30 CDH23; PSAP NM_022124.5(CDH23): c.9978C> T (p.Asn3326=) single nucleotide variant Benign rs73277900 GRCh38 Chromosome 10, 71815191: 71815191
31 CDH23; PSAP NM_002778.3(PSAP): c.1351-14A> G single nucleotide variant Benign/Likely benign rs4747203 GRCh37 Chromosome 10, 73578882: 73578882
32 CDH23; PSAP NM_002778.3(PSAP): c.1351-14A> G single nucleotide variant Benign/Likely benign rs4747203 GRCh38 Chromosome 10, 71819125: 71819125
33 CDH23; PSAP NM_022124.5(CDH23): c.9510+16_9510+22delTCAGGCA deletion Conflicting interpretations of pathogenicity rs149704197 GRCh37 Chromosome 10, 73572385: 73572391
34 CDH23; PSAP NM_022124.5(CDH23): c.9510+16_9510+22delTCAGGCA deletion Conflicting interpretations of pathogenicity rs149704197 GRCh38 Chromosome 10, 71812628: 71812634
35 PSAP NM_002778.3(PSAP): c.1380C> T (p.Pro460=) single nucleotide variant Benign/Likely benign rs1049882 GRCh38 Chromosome 10, 71819082: 71819082
36 PSAP NM_002778.3(PSAP): c.1380C> T (p.Pro460=) single nucleotide variant Benign/Likely benign rs1049882 GRCh37 Chromosome 10, 73578839: 73578839
37 CDH23; PSAP NM_002778.3(PSAP): c.1350+5G> A single nucleotide variant Benign/Likely benign rs11000016 GRCh38 Chromosome 10, 71819460: 71819460
38 CDH23; PSAP NM_002778.3(PSAP): c.1350+5G> A single nucleotide variant Benign/Likely benign rs11000016 GRCh37 Chromosome 10, 73579217: 73579217
39 PSAP NM_002778.3(PSAP): c.-4C> T single nucleotide variant Benign rs2070188 GRCh38 Chromosome 10, 71851225: 71851225
40 PSAP NM_002778.3(PSAP): c.-4C> T single nucleotide variant Benign rs2070188 GRCh37 Chromosome 10, 73610982: 73610982
41 PSAP NM_002778.3(PSAP): c.-10A> G single nucleotide variant Benign/Likely benign rs76455588 GRCh38 Chromosome 10, 71851231: 71851231
42 PSAP NM_002778.3(PSAP): c.-10A> G single nucleotide variant Benign/Likely benign rs76455588 GRCh37 Chromosome 10, 73610988: 73610988
43 PSAP NM_002778.3(PSAP): c.-28A> C single nucleotide variant Likely benign rs375720661 GRCh38 Chromosome 10, 71851249: 71851249
44 PSAP NM_002778.3(PSAP): c.-28A> C single nucleotide variant Likely benign rs375720661 GRCh37 Chromosome 10, 73611006: 73611006
45 CDH23; PSAP NM_022124.5(CDH23): c.9739-12G> A single nucleotide variant Conflicting interpretations of pathogenicity rs200638595 GRCh37 Chromosome 10, 73574697: 73574697
46 CDH23; PSAP NM_022124.5(CDH23): c.9739-12G> A single nucleotide variant Conflicting interpretations of pathogenicity rs200638595 GRCh38 Chromosome 10, 71814940: 71814940
47 CDH23; PSAP NM_022124.5(CDH23): c.*68G> C single nucleotide variant Conflicting interpretations of pathogenicity rs527311705 GRCh37 Chromosome 10, 73575103: 73575103
48 CDH23; PSAP NM_022124.5(CDH23): c.*68G> C single nucleotide variant Conflicting interpretations of pathogenicity rs527311705 GRCh38 Chromosome 10, 71815346: 71815346
49 PSAP NM_002778.3(PSAP): c.*276G> A single nucleotide variant Likely benign rs547409137 GRCh37 Chromosome 10, 73576922: 73576922
50 PSAP NM_002778.3(PSAP): c.*276G> A single nucleotide variant Likely benign rs547409137 GRCh38 Chromosome 10, 71817165: 71817165

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

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