Combined Saposin Deficiency

Description

Encephalopathy due to prosaposin deficiency is a lysosomal storage disease belonging to the group of sphingolipidoses.

Clinical Features

Top most frequent phenotypes and symptoms related to Combined Saposin Deficiency

  • Seizures
  • Generalized hypotonia
  • Muscular hypotonia
  • Nevus
  • Feeding difficulties
  • Hepatomegaly
  • Optic atrophy
  • Splenomegaly
  • Hypoplasia of the corpus callosum
  • Respiratory insufficiency
And another 20 symptoms. If you need more information about this disease we can help you.
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Incidence and onset information

Not enough data available about incidence and published cases.


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Combined Saposin Deficiency Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMet®Plus aCGH Analysis.

By Baylor Miraca Genetics Laboratories in United States.

BRCA1, MTHFR, UBE3A, VHL, MUTYH, TP53, MCCC1, MCCC2, AARS2, ABCB11, ABCB4, ABHD12, ACACA, ACAD9, ACADM, ACADS, AGL, ACADVL, ACAT1, ZNF513 , (...)

View the complete list with 617 more genes
Specificity
1 %
Genes
100 %
Lysosomal Storage Disease Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

GAA, COL2A1, PSAP, GNPTAB, GLB1, GNE, SMPD1, CTSD, HEXA, GM2A, HEXB, PHYH, CTSK, CTSA, GUSB, GALNS, GNS, HGSNAT, NAGLU, SGSH , (...)

View the complete list with 55 more genes
Specificity
2 %
Genes
100 %
Ataxia Exome Panel.

By Genetic Services Laboratory University of Chicago in United States.

FMR1, TTR, UBE3A, AARS2, ABHD12, PC, UQCRQ, UQCRB, HLCS, BTD, ATP7B, ATPAF2, AUH, BCKDHA, BCKDHB, BCS1L, TWNK, C12orf65, ADSL, PRKCG , (...)

View the complete list with 460 more genes
Specificity
1 %
Genes
100 %
Lysosomal Storage Disease Panel.

By Molecular Genetics Laboratory London Health Sciences Centre in Canada.

GAA, PSAP, GNPTAB, GLB1, SMPD1, CTSD, GRN, HEXA, GM2A, HEXB, CTSK, CTSA, GUSB, GALNS, GNS, HGSNAT, NAGLU, SGSH, MANBA, MAN2B1 , (...)

View the complete list with 30 more genes
Specificity
2 %
Genes
100 %
PSAP Gene Sequencing.

By GeneDx in United States.

PSAP
Specificity
100 %
Genes
100 %
Metachromatic Leukodystrophy due to Saposin B Deficiency.

By Clinic of Pediatrics and Adolescent Medicine General University Hospital in Prague and First Faculty of Medicine, Charles University in Prague in Czech Republic.

PSAP
Specificity
100 %
Genes
100 %
PSAP. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

PSAP
Specificity
100 %
Genes
100 %
Prosaposin deficiency (sequence analysis of PSAP gene).

By CGC Genetics in Portugal.

PSAP
Specificity
100 %
Genes
100 %
Lysosomal and peroxisomal diseases (NGS panel of 109 genes).

By CGC Genetics in Portugal.

GAA, PPARG, AMACR, HSD17B4, CLCN7, PSAP, GNPTAB, GLB1, ATP6V0A2, SMPD1, HPS1, DNM1L, BLOC1S3, HPS6, SCP2, CTSD, AP3B1, GRN, AGPS, LMBRD1 , (...)

View the complete list with 88 more genes
Specificity
1 %
Genes
100 %
Lysosomal and peroxisomal diseases (NGS panel of 109 genes).

By CGC Genetics in Portugal.

GAA, PPARG, AMACR, HSD17B4, CLCN7, PSAP, GNPTAB, GLB1, ATP6V0A2, SMPD1, HPS1, DNM1L, BLOC1S3, HPS6, SCP2, CTSD, AP3B1, GRN, AGPS, LMBRD1 , (...)

View the complete list with 88 more genes
Specificity
1 %
Genes
100 %
Metachromatic Leukodystrophy via PSAP Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

PSAP
Specificity
100 %
Genes
100 %
Metachromatic Leukodystrophy Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

PSAP, ARSA
Specificity
50 %
Genes
100 %
Leukodystrophy and Leukoencephalopathy Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

PC, TYROBP, ATP7A, ATP7B, TWNK, ADSL, HSD17B4, CPS1, PSAP, GLB1, OCRL, POLG, NDUFS4, HSPD1, SLC25A4, RRM2B, FH, COQ9, DNM1L, DGUOK , (...)

View the complete list with 134 more genes
Specificity
1 %
Genes
100 %
Neurogenetic Disorders - panels.

By MGZ Medical Genetics Center in Germany.

MTHFR, TTR, UBE3A, AARS2, ABHD12, ACAD9, ACADM, ACADS, AGL, ACADVL, YARS2, PC, UQCRQ, ARG1, UQCRB, ATP5F1E, ATP7B, ATPAF2, AUH, BCKDHA , (...)

View the complete list with 577 more genes
Specificity
1 %
Genes
100 %
Metachromatic Leukodystrophy Panel.

By FirmaLab in United States.

PSAP, ARSA
Specificity
50 %
Genes
100 %
Metachromatic leukodystrophy, due to Saposin B deficiency.

By Centogene AG - the Rare Disease Company in Germany.

PSAP
Specificity
100 %
Genes
100 %
AllNeuro panel.

By Centogene AG - the Rare Disease Company in Germany.

F2, F5, FMR1, HTT, HFE, MTHFR, TTR, UBE3A, VHL, PTEN, AARS2, ABHD12, ACACA, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1 , (...)

View the complete list with 1185 more genes
Specificity
1 %
Genes
100 %
CentoICU platinum plus.

By Centogene AG - the Rare Disease Company in Germany.

BRCA2, F2, F5, MTHFR, UBE3A, MCCC1, MCCC2, AARS2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2 , (...)

View the complete list with 494 more genes
Specificity
1 %
Genes
100 %
CentoICU platinum.

By Centogene AG - the Rare Disease Company in Germany.

BRCA2, F2, F5, MTHFR, UBE3A, MCCC1, MCCC2, AARS2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2 , (...)

View the complete list with 494 more genes
Specificity
1 %
Genes
100 %
Prosaposin deficiency.

By Centogene AG - the Rare Disease Company in Germany.

PSAP
Specificity
100 %
Genes
100 %
Leukodystrophy / Leukencephalopathy Panel.

By CeGaT GmbH in Germany.

PSAP, HSPD1, ABCD1, GALC, L2HGDH, ARSA, ASPA, EIF2B1, GJC2, PLP1, MLC1, SUMF1, EIF2B5, EIF2B3, EIF2B2, EIF2B4, NOTCH3, FOLR1, SAMHD1, RNASEH2A , (...)

View the complete list with 15 more genes
Specificity
3 %
Genes
100 %
Lysosomal Disorders Panel.

By CeGaT GmbH in Germany.

PSAP, GNPTAB, GLB1, SMPD1, HEXA, HEXB, CTSA, GUSB, GALNS, GNS, HGSNAT, NAGLU, SGSH, GALC, AGA, ARSB, ARSA, IDS, IDUA, NPC1 , (...)

View the complete list with 9 more genes
Specificity
4 %
Genes
100 %
Leukodystrophy and Leukoencephalopathy Panel.

By CeGaT GmbH in Germany.

PSAP, HSPD1, ABCD1, GALC, L2HGDH, ARSA, ASPA, EIF2B1, GJC2, PLP1, MLC1, SUMF1, EIF2B5, EIF2B3, EIF2B2, EIF2B4, NOTCH3, FOLR1, SAMHD1, RNASEH2A , (...)

View the complete list with 15 more genes
Specificity
3 %
Genes
100 %
Lysosomal Disorders Panel.

By CeGaT GmbH in Germany.

PSAP, GNPTAB, GLB1, SMPD1, HEXA, HEXB, CTSA, GUSB, GALNS, GNS, HGSNAT, NAGLU, SGSH, GALC, AGA, ARSB, ARSA, IDS, IDUA, NPC1 , (...)

View the complete list with 9 more genes
Specificity
4 %
Genes
100 %
Leukodystrophy / Leukencephalopathy and differential diagnoses Panel.

By CeGaT GmbH in Germany.

AARS2, PC, TYROBP, ATP7A, ATP7B, AUH, BCS1L, C12orf65, MMACHC, HSD17B4, PSAP, GLB1, OCRL, POLG, NDUFS4, HSPD1, FOXRED1, NDUFAF2, NDUFA12, NDUFA9 , (...)

View the complete list with 155 more genes
Specificity
1 %
Genes
100 %
Single gene testing PSAP.

By CeGaT GmbH in Germany.

PSAP
Specificity
100 %
Genes
100 %
Leukodystrophy / Leukoencephalopathy Panel.

By CeGaT GmbH in Germany.

AARS2, TYROBP, HSD17B4, PSAP, HSPD1, SCP2, DARS2, ABCD1, ALDH3A2, ACOX1, GALC, L2HGDH, GBE1, GCDH, CYP27A1, ARSA, ASPA, EIF2B1, GJC2, PLP1 , (...)

View the complete list with 56 more genes
Specificity
2 %
Genes
100 %
Lysosomal Storage Disease.

By Asper Biogene Asper Biogene LLC in Estonia.

GAA, PSAP, GNPTAB, GLB1, SMPD1, CTSD, HEXA, GM2A, HEXB, CTSK, CTSA, GUSB, GALNS, GNS, HGSNAT, NAGLU, SGSH, MANBA, MAN2B1, GALC , (...)

View the complete list with 30 more genes
Specificity
2 %
Genes
100 %
Leukodystrophy and Leukoencephalopathy.

By Asper Biogene Asper Biogene LLC in Estonia.

PSAP, HSPD1, SCP2, DARS2, ABCD1, GALC, L2HGDH, ARSA, ASPA, EIF2B1, GJC2, PLP1, MLC1, SUMF1, EIF2B5, EIF2B3, EIF2B2, EIF2B4, NOTCH3, FOLR1 , (...)

View the complete list with 19 more genes
Specificity
3 %
Genes
100 %
Invitae Metachromatic Leukodystrophy Panel.

By Invitae in United States.

PSAP, ARSA, SUMF1
Specificity
34 %
Genes
100 %
Invitae Prosaposin Deficiency Test.

By Invitae in United States.

PSAP
Specificity
100 %
Genes
100 %
Invitae Comprehensive Lysosomal Storage Disorders Panel.

By Invitae in United States.

GAA, PSAP, GNPTAB, GLB1, SMPD1, CTSD, GRN, HEXA, GM2A, HEXB, CTSK, CTSA, GUSB, GALNS, GNS, HGSNAT, NAGLU, SGSH, MANBA, MAN2B1 , (...)

View the complete list with 32 more genes
Specificity
2 %
Genes
100 %
Prosaposin, deficiency: secuencing of PSAP gene.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

PSAP
Specificity
100 %
Genes
100 %
Leukodistrophy.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

TYROBP, BEST1, HSD17B4, PSAP, HSPD1, SCP2, DARS2, ABCD1, PHYH, SDHAF1, NDUFV1, GALC, CYP27A1, SDHA, ARSA, ASPA, EIF2B1, GJC2, PLP1, PEX2 , (...)

View the complete list with 38 more genes
Specificity
2 %
Genes
100 %
PSAP-Related Disorders: PSAP Full Gene Sequencing.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

PSAP
Specificity
100 %
Genes
100 %
PSAP-Related Disorders: PSAP Gene Deletion/Duplication.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

PSAP
Specificity
100 %
Genes
100 %
Lysosomal Storage Disorders: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

GAA, PSAP, GNPTAB, GLB1, GNE, SMPD1, FBN1, CTSD, GRN, HEXA, GM2A, HEXB, CTSA, GUSB, GALNS, GNS, HGSNAT, NAGLU, SGSH, MANBA , (...)

View the complete list with 35 more genes
Specificity
2 %
Genes
100 %
Epilepsy NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

MTHFR, UBE3A, PC, ARG1, BTD, ATPAF2, BCS1L, C12orf65, ADSL, PAX6, CPT2, PSAP, GNPTAB, GLB1, CC2D2A, PRODH, ATP6V0A2, GNE, HSD17B10, TMEM67 , (...)

View the complete list with 323 more genes
Specificity
1 %
Genes
100 %
Leukoencephalopathy NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

PTEN, PSAP, HSPD1, SCP2, ABAT, SLC25A12, DARS2, ALDH3A2, ACOX1, ARSA, ASPA, EIF2B1, GJC2, PLP1, MLC1, EIF2B5, EIF2B3, EIF2B2, EIF2B4, NOTCH3 , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
100 %
Lysosomal Disorders NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

ARG1, BTD, GAA, ADSL, COL2A1, PSAP, GNPTAB, GLB1, PRODH, GNE, FH, SMPD1, GAMT, CTSD, GCSH, GLDC, AMT, LMBRD1, HEXA, GM2A , (...)

View the complete list with 86 more genes
Specificity
1 %
Genes
100 %
PSAP.

By Fulgent Genetics Fulgent Genetics in United States.

PSAP
Specificity
100 %
Genes
100 %
Comprehensive Epilepsy NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

MTHFR, UBE3A, PC, ARG1, BTD, ATPAF2, AUH, BCS1L, TWNK, C12orf65, ADSL, PAX6, AMACR, CPT2, PSAP, GNPTAB, GLB1, CC2D2A, PRODH, ATP6V0A2 , (...)

View the complete list with 427 more genes
Specificity
1 %
Genes
100 %
Lysosomal Disorders and Mucopolysaccharidosis Panel.

By Blueprint Genetics in Finland.

ARG1, BTD, GAA, ADSL, COL2A1, PSAP, GNPTAB, GLB1, PRODH, GNE, FH, SMPD1, GAMT, CTSD, GLDC, AMT, HEXA, GM2A, SUOX, ALDH5A1 , (...)

View the complete list with 82 more genes
Specificity
1 %
Genes
100 %
Comprehensive Metabolism Panel.

By Blueprint Genetics in Finland.

HFE, MTHFR, MCCC1, MCCC2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2, ARG1, HLCS, BTD, ATP7B , (...)

View the complete list with 414 more genes
Specificity
1 %
Genes
100 %
Leukodystrophy and Leukoencephalopathy Panel.

By Blueprint Genetics in Finland.

PSAP, HSPD1, FOXRED1, NFU1, TTC19, NUBPL, DARS2, GFM1, D2HGDH, AIFM1, ABCD1, ALDH3A2, COX15, SDHAF1, NDUFAF5, HIBCH, GALC, L2HGDH, COX6B1, CYP27A1 , (...)

View the complete list with 54 more genes
Specificity
2 %
Genes
100 %
Comprehensive Epilepsy Panel.

By Blueprint Genetics in Finland.

HTT, MTHFR, UBE3A, ARG1, BTD, ADSL, AMACR, CPT2, PSAP, GLB1, PRODH, GNE, HSD17B10, POLG, NDUFS4, HSPD1, AFG3L2, FOXRED1, FH, MECP2 , (...)

View the complete list with 263 more genes
Specificity
1 %
Genes
100 %
Encephalopathy due to prosaposin deficiency.

By Bioarray in Spain.

PSAP
Specificity
100 %
Genes
100 %
METACHROMATIC LEUKODYSTROPHY (ARYLSULFATASE A DEFICIENCY).

By Laboratorio de Genetica Clinica SL in Spain.

PSAP, ARSA
Specificity
50 %
Genes
100 %
ATYPICAL GAUCHER DISEASE DUE TO SAPOSIN C DEFICIENCY.

By Laboratorio de Genetica Clinica SL in Spain.

PSAP
Specificity
100 %
Genes
100 %
Encephalopathy due to a Deficiency of Prosaposin, Sequencing PSAP Gene.

By Reference Laboratory Genetics in Spain.

PSAP
Specificity
100 %
Genes
100 %
Leukodystrophies , Panel Massive Sequencing (NGS) 57 genes.

By Reference Laboratory Genetics in Spain.

TYROBP, BEST1, HSD17B4, PSAP, HSPD1, DARS2, ABCD1, PHYH, SDHAF1, NDUFV1, GALC, CYP27A1, SDHA, ARSA, ASPA, EIF2B1, GJC2, PLP1, PEX2, PEX7 , (...)

View the complete list with 36 more genes
Specificity
2 %
Genes
100 %
Peroxisomal and Lysosomal Diseases , Panel Massive Sequencing (NGS) 78 Genes.

By Reference Laboratory Genetics in Spain.

GAA, AMACR, HSD17B4, PSAP, GNPTAB, GLB1, SMPD1, DNM1L, CAT, SCP2, CTSD, AGPS, LMBRD1, HEXA, GM2A, HEXB, PHYH, CTSK, ACOX1, AGXT , (...)

View the complete list with 58 more genes
Specificity
2 %
Genes
100 %
Storage and Energetic Metabolism Diseases , Panel Massive Sequencing (NGS) 82 genes.

By Reference Laboratory Genetics in Spain.

ALDOB, FBP1, PC, HSD17B4, PSAP, GNPTAB, GLB1, GNE, DLD, SMPD1, PDHB, PCK2, SCP2, CTSD, PDP1, GRN, AGPS, PDHA1, ABCD1, HEXA , (...)

View the complete list with 62 more genes
Specificity
2 %
Genes
100 %

Alternate names

Combined Saposin Deficiency Is also known as prosaposin deficiency;psapd, combined sap deficiency;combined prosaposin deficiency.



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