AGD
MCID: GCH010
MIFTS: 33

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 57 72 29 6
Gaucher Disease, Atypical 57 20 13 39
Atypical Gaucher Disease Due to Saposin C Deficiency 20 58
Atypical Gaucher Disease 29 6
Atypical Gaucher's Disease Due to Saposin C Deficiency 12
Agd 72

Characteristics:

HPO:

31
gaucher disease, atypical, due to saposin c deficiency:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Inborn errors of metabolism


External Ids:

Disease Ontology 12 DOID:0110961
OMIM® 57 610539
MeSH 44 D005776
ICD10 32 E75.2
ICD10 via Orphanet 33 E75.2
UMLS via Orphanet 71 C1864651
Orphanet 58 ORPHA309252
MedGen 41 C1864651

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

UniProtKB/Swiss-Prot : 72 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 combined saposin deficiency and gaucher disease, type i. An important gene associated with Gaucher Disease, Atypical, Due to Saposin C Deficiency is PSAP (Prosaposin). Affiliated tissues include spleen, brain and skin, and related phenotypes are osteopenia and anemia

Disease Ontology : 12 A Gaucher's disease that has material basis in an autosomal recessive mutation of PSAP on chromosome 10q22.1.

More information 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:

(show all 17)
# Related Disease Score Top Affiliating Genes
1 combined saposin deficiency 29.4 PSAP CDH23
2 gaucher disease, type i 11.2
3 gaucher's disease 9.9
4 sphingolipidosis 9.9
5 autism 9.9
6 cardiac arrest 9.9
7 respiratory failure 9.9
8 echinococcosis 9.9
9 plague 9.9
10 aneurysm 9.9
11 non-specific syndromic intellectual disability 9.9
12 krabbe disease 9.7 PSAP CDH23
13 krabbe disease, atypical, due to saposin a deficiency 9.7 PSAP CDH23
14 retinitis pigmentosa-deafness syndrome 9.7 PSAP CDH23
15 deafness, autosomal recessive 12 9.6 PSAP CDH23
16 metachromatic leukodystrophy 9.6 PSAP CDH23
17 usher syndrome 9.5 PSAP CDH23

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:

31 (show all 8)
# Description HPO Frequency HPO Source Accession
1 osteopenia 31 HP:0000938
2 anemia 31 HP:0001903
3 myoclonus 31 HP:0001336
4 thrombocytopenia 31 HP:0001873
5 hepatosplenomegaly 31 HP:0001433
6 erlenmeyer flask deformity of the femurs 31 HP:0004975
7 seizure 31 HP:0001250
8 increased cerebral lipofuscin 31 HP:0011813

Clinical features from OMIM®:

610539 (Updated 20-May-2021)

MGI Mouse Phenotypes related to Gaucher Disease, Atypical, Due to Saposin C Deficiency:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 8.62 CDH23 PSAP

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
2 Atypical Gaucher Disease 29

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

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

40
Spleen, Brain, Skin

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

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

(show all 13)
# Title Authors PMID Year
1
Non-neuronopathic Gaucher disease due to saposin C deficiency. 57 6
17919309 2007
2
A mutation within the saposin D domain in a Gaucher disease patient with normal glucocerebrosidase activity. 57 6
15856305 2005
3
Mutational analysis in a patient with a variant form of Gaucher disease caused by SAP-2 deficiency. 6 57
8460394 1993
4
Mutation in the sphingolipid activator protein 2 in a patient with a variant of Gaucher disease. 57 6
2060627 1991
5
Activator protein deficient Gaucher's disease. A second patient with the newly identified lipid storage disorder. 57 6
2615292 1989
6
Sphingolipid activator protein deficiency in a 16-week-old atypical Gaucher disease patient and his fetal sibling: biochemical signs of combined sphingolipidoses. 6 61
2514102 1989
7
Saposin C mutations in Gaucher disease patients resulting in lysosomal lipid accumulation, saposin C deficiency, but normal prosaposin processing and sorting. 57
20484222 2010
8
Neuronopathic juvenile glucosylceramidosis due to sap-C deficiency: clinical course, neuropathology and brain lipid composition in this Gaucher disease variant. 57
9930900 1999
9
Prosaposin deficiency: further characterization of the sphingolipid activator protein-deficient sibs. Multiple glycolipid elevations (including lactosylceramidosis), partial enzyme deficiencies and ultrastructure of the skin in this generalized sphingolipid storage disease. 6
8370580 1993
10
Simultaneous deficiency of sphingolipid activator proteins 1 and 2 is caused by a mutation in the initiation codon of their common gene. 6
1371116 1992
11
Immunochemical characterization of two activator proteins stimulating enzymic sphingomyelin degradation in vitro. Absence of one of them in a human Gaucher disease variant. 57
3024666 1986
12
Niemann-Pick disease, Type C: evidence for the deficiency of an activating factor stimulating sphingomyelin and glucocerebroside degradation. 6
6256275 1980
13
Late Infantile Metachromatic Leukodystrophy Due to Novel Pathogenic Variants in the PSAP Gene. 61
30632081 2019

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

ClinVar genetic disease variations for Gaucher Disease, Atypical, Due to Saposin C Deficiency:

6 (show top 50) (show all 115)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PSAP NM_002778.4(PSAP):c.1145G>T (p.Cys382Phe) SNV Pathogenic 13364 rs121918105 GRCh37: 10:73579518-73579518
GRCh38: 10:71819761-71819761
2 PSAP NM_002778.4(PSAP):c.1144T>G (p.Cys382Gly) SNV Pathogenic 13370 rs121918108 GRCh37: 10:73579519-73579519
GRCh38: 10:71819762-71819762
3 PSAP NM_002778.4(PSAP):c.1288C>T (p.Gln430Ter) SNV Pathogenic 13371 rs121918109 GRCh37: 10:73579284-73579284
GRCh38: 10:71819527-71819527
4 PSAP NM_002778.4(PSAP):c.1046T>C (p.Leu349Pro) SNV Pathogenic 13372 rs121918110 GRCh37: 10:73579617-73579617
GRCh38: 10:71819860-71819860
5 PSAP NM_002778.4(PSAP):c.1A>T (p.Met1Leu) SNV Pathogenic 13365 rs121918106 GRCh37: 10:73610978-73610978
GRCh38: 10:71851221-71851221
6 PSAP NM_002778.4(PSAP):c.1369G>T (p.Glu457Ter) SNV Pathogenic 438801 rs1554879741 GRCh37: 10:73578850-73578850
GRCh38: 10:71819093-71819093
7 PSAP NM_002778.4(PSAP):c.*526G>A SNV Uncertain significance 877692 GRCh37: 10:73576672-73576672
GRCh38: 10:71816915-71816915
8 PSAP NM_002778.4(PSAP):c.*90C>T SNV Uncertain significance 877730 GRCh37: 10:73577108-73577108
GRCh38: 10:71817351-71817351
9 PSAP NM_002778.4(PSAP):c.380G>A (p.Arg127His) SNV Uncertain significance 300526 rs886047151 GRCh37: 10:73588830-73588830
GRCh38: 10:71829073-71829073
10 PSAP NM_002778.4(PSAP):c.*787C>T SNV Uncertain significance 878665 GRCh37: 10:73576411-73576411
GRCh38: 10:71816654-71816654
11 PSAP NM_002778.4(PSAP):c.*346C>T SNV Uncertain significance 878721 GRCh37: 10:73576852-73576852
GRCh38: 10:71817095-71817095
12 PSAP NM_002778.4(PSAP):c.1329G>T (p.Leu443=) SNV Uncertain significance 878804 GRCh37: 10:73579243-73579243
GRCh38: 10:71819486-71819486
13 CDH23 , PSAP NM_002778.4(PSAP):c.*238G>C SNV Uncertain significance 879308 GRCh37: 10:73576960-73576960
GRCh38: 10:71817203-71817203
14 PSAP NM_002778.4(PSAP):c.1197C>T (p.His399=) SNV Uncertain significance 879388 GRCh37: 10:73579375-73579375
GRCh38: 10:71819618-71819618
15 PSAP NM_002778.4(PSAP):c.508C>G (p.Pro170Ala) SNV Uncertain significance 879499 GRCh37: 10:73588702-73588702
GRCh38: 10:71828945-71828945
16 PSAP NM_002778.4(PSAP):c.419C>T (p.Ser140Phe) SNV Uncertain significance 879866 GRCh37: 10:73588791-73588791
GRCh38: 10:71829034-71829034
17 PSAP NM_002778.4(PSAP):c.*1008C>T SNV Uncertain significance 877646 GRCh37: 10:73576190-73576190
GRCh38: 10:71816433-71816433
18 PSAP NM_002778.4(PSAP):c.*596A>G SNV Uncertain significance 880453 GRCh37: 10:73576602-73576602
GRCh38: 10:71816845-71816845
19 PSAP NM_002778.4(PSAP):c.*276G>A SNV Uncertain significance 300502 rs547409137 GRCh37: 10:73576922-73576922
GRCh38: 10:71817165-71817165
20 PSAP NM_002778.4(PSAP):c.40+12G>A SNV Uncertain significance 300539 rs886047153 GRCh37: 10:73610927-73610927
GRCh38: 10:71851170-71851170
21 PSAP NM_002778.4(PSAP):c.*935A>G SNV Uncertain significance 300497 rs886047148 GRCh37: 10:73576263-73576263
GRCh38: 10:71816506-71816506
22 PSAP NM_002778.4(PSAP):c.*859C>T SNV Uncertain significance 300499 rs886047149 GRCh37: 10:73576339-73576339
GRCh38: 10:71816582-71816582
23 PSAP NM_002778.4(PSAP):c.923C>T (p.Pro308Leu) SNV Uncertain significance 300519 rs886047150 GRCh37: 10:73580079-73580079
GRCh38: 10:71820322-71820322
24 PSAP NM_002778.4(PSAP):c.250-12G>A SNV Uncertain significance 300528 rs886047152 GRCh37: 10:73591020-73591020
GRCh38: 10:71831263-71831263
25 PSAP NM_002778.4(PSAP):c.*574G>C SNV Uncertain significance 300501 rs549402343 GRCh37: 10:73576624-73576624
GRCh38: 10:71816867-71816867
26 PSAP NM_002778.3(PSAP):c.-50G>T SNV Uncertain significance 300543 rs886047154 GRCh37: 10:73611028-73611028
GRCh38: 10:71851271-71851271
27 PSAP NM_002778.3(PSAP):c.-56A>G SNV Uncertain significance 300544 rs534586960 GRCh37: 10:73611034-73611034
GRCh38: 10:71851277-71851277
28 PSAP NM_002778.4(PSAP):c.798G>A (p.Ala266=) SNV Uncertain significance 300521 rs199672678 GRCh37: 10:73581744-73581744
GRCh38: 10:71821987-71821987
29 PSAP NM_002778.4(PSAP):c.*113C>T SNV Uncertain significance 300504 rs544214520 GRCh37: 10:73577085-73577085
GRCh38: 10:71817328-71817328
30 PSAP NM_002778.4(PSAP):c.*73C>T SNV Uncertain significance 300505 rs541692197 GRCh37: 10:73577125-73577125
GRCh38: 10:71817368-71817368
31 PSAP NM_002778.3(PSAP):c.-99T>G SNV Uncertain significance 300547 rs886047156 GRCh37: 10:73611077-73611077
GRCh38: 10:71851320-71851320
32 PSAP NM_002778.4(PSAP):c.94T>G (p.Trp32Gly) SNV Uncertain significance 300535 rs200008050 GRCh37: 10:73594209-73594209
GRCh38: 10:71834452-71834452
33 PSAP NM_002778.4(PSAP):c.911A>G (p.Lys304Arg) SNV Uncertain significance 300520 rs757553906 GRCh37: 10:73580091-73580091
GRCh38: 10:71820334-71820334
34 PSAP NM_002778.4(PSAP):c.-22G>C SNV Uncertain significance 300540 rs569841336 GRCh37: 10:73611000-73611000
GRCh38: 10:71851243-71851243
35 PSAP NM_002778.3(PSAP):c.-62A>G SNV Uncertain significance 300545 rs886047155 GRCh37: 10:73611040-73611040
GRCh38: 10:71851283-71851283
36 PSAP NM_002778.4(PSAP):c.1258G>A (p.Asp420Asn) SNV Uncertain significance 300513 rs760621775 GRCh37: 10:73579314-73579314
GRCh38: 10:71819557-71819557
37 PSAP , CDH23 NM_022124.6(CDH23):c.9510+13C>T SNV Likely benign 178843 rs183692794 GRCh37: 10:73572379-73572379
GRCh38: 10:71812622-71812622
38 PSAP , CDH23 NM_022124.6(CDH23):c.*478G>C SNV Likely benign 368919 rs564392413 GRCh37: 10:73575513-73575513
GRCh38: 10:71815756-71815756
39 PSAP , CDH23 NM_022124.6(CDH23):c.9739-12G>A SNV Likely benign 300475 rs200638595 GRCh37: 10:73574697-73574697
GRCh38: 10:71814940-71814940
40 PSAP NM_002778.4(PSAP):c.1432-4A>G SNV Likely benign 300510 rs775086571 GRCh37: 10:73578485-73578485
GRCh38: 10:71818728-71818728
41 PSAP , CDH23 NM_022124.6(CDH23):c.9903C>T (p.Pro3301=) SNV Likely benign 46081 rs55717455 GRCh37: 10:73574873-73574873
GRCh38: 10:71815116-71815116
42 PSAP , CDH23 NM_022124.6(CDH23):c.*68G>C SNV Likely benign 300482 rs527311705 GRCh37: 10:73575103-73575103
GRCh38: 10:71815346-71815346
43 PSAP , CDH23 NM_022124.6(CDH23):c.*104G>C SNV Likely benign 300485 rs377312107 GRCh37: 10:73575139-73575139
GRCh38: 10:71815382-71815382
44 PSAP NM_002778.4(PSAP):c.227T>A (p.Met76Lys) SNV Likely benign 300529 rs377024801 GRCh37: 10:73591625-73591625
GRCh38: 10:71831868-71831868
45 PSAP , CDH23 NM_022124.6(CDH23):c.*141G>A SNV Likely benign 300487 rs535544696 GRCh37: 10:73575176-73575176
GRCh38: 10:71815419-71815419
46 PSAP , CDH23 NM_022124.6(CDH23):c.9799C>T (p.Arg3267Cys) SNV Likely benign 300476 rs201727938 GRCh37: 10:73574769-73574769
GRCh38: 10:71815012-71815012
47 PSAP NM_002778.3(PSAP):c.-65C>T SNV Likely benign 300546 rs145948209 GRCh37: 10:73611043-73611043
GRCh38: 10:71851286-71851286
48 PSAP , CDH23 NM_022124.6(CDH23):c.9501G>A (p.Thr3167=) SNV Likely benign 46074 rs144906721 GRCh37: 10:73572357-73572357
GRCh38: 10:71812600-71812600
49 PSAP , CDH23 NM_022124.6(CDH23):c.9942G>A (p.Thr3314=) SNV Likely benign 300478 rs376804660 GRCh37: 10:73574912-73574912
GRCh38: 10:71815155-71815155
50 PSAP , CDH23 NM_022124.6(CDH23):c.9291G>T (p.Lys3097Asn) SNV Likely benign 300473 rs368441850 GRCh37: 10:73571482-73571482
GRCh38: 10:71811725-71811725

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

72
# Symbol AA change Variation ID SNP ID
1 PSAP p.Cys388Phe VAR_006945
2 PSAP p.Leu349Pro VAR_042441 rs121918110

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

Search GEO for disease gene expression data for Gaucher Disease, Atypical, Due to Saposin C Deficiency.

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

GO Terms for Gaucher Disease, Atypical, Due to Saposin C Deficiency

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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