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ONTOLOGY REPORT - ANNOTATIONS


Term:sphingolipidosis
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Accession:DOID:1927 term browser browse the term
Definition:A group of inherited metabolic disorders characterized by the intralysosomal accumulation of SPHINGOLIPIDS primarily in the CENTRAL NERVOUS SYSTEM and to a variable degree in the visceral organs. They are classified by the enzyme defect in the degradation pathway and the substrate accumulation (or storage). Clinical features vary in subtypes but neurodegeneration is a common sign.
Synonyms:exact_synonym: Sphingolipid Storage Disease;   Sphingolipid Storage Diseases;   sphingolipidoses
 primary_id: MESH:D013106;   RDO:0004852
 xref: GARD:7672;   ICD10CM:E75.3;   NCI:C117254
For additional species annotation, visit the Alliance of Genome Resources.


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sphingolipidosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Asah1 N-acylsphingosine amidohydrolase 1 JBrowse link 16 53,998,604 54,030,006 RGD:734977
G Sumf1 sulfatase modifying factor 1 JBrowse link 4 140,139,017 140,220,482 RGD:1599192
Angiokeratoma Corporis Diffusum with Arteriovenous Fistulas term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ankib1 ankyrin repeat and IBR domain containing 1 JBrowse link 4 27,473,477 27,597,206 RGD:8554872
G Krit1 KRIT1, ankyrin repeat containing JBrowse link 4 27,438,609 27,473,150 RGD:8554872
atypical Gaucher's disease due to saposin C deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Psap prosaposin JBrowse link 20 29,831,302 29,856,876 RGD:7240710
RGD:8554872
combined saposin deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cdh23 cadherin-related 23 JBrowse link 20 29,857,018 30,263,758 RGD:8554872
G Psap prosaposin JBrowse link 20 29,831,302 29,856,876 RGD:7240710
RGD:8554872
Fabry disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ace angiotensin I converting enzyme JBrowse link 10 94,170,766 94,213,831 RGD:12879402
G Agt angiotensinogen JBrowse link 19 57,321,594 57,333,460 RGD:13432161
G Ar androgen receptor JBrowse link X 67,656,253 67,828,998 RGD:11576234
G Gla galactosidase, alpha JBrowse link X 105,405,915 105,417,331 RGD:1601350
RGD:8554872
RGD:11554173
RGD:7240710
G Il1a interleukin 1 alpha JBrowse link 3 121,824,712 121,836,122 RGD:6907117
G Mylk2 myosin light chain kinase 2 JBrowse link 3 148,386,185 148,397,851 RGD:8554872
G Vdr vitamin D receptor JBrowse link 7 139,344,452 139,394,138 RGD:13432071
Fabry Disease, Cardiac Variant term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gla galactosidase, alpha JBrowse link X 105,405,915 105,417,331 RGD:8554872
Farber lipogranulomatosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Asah1 N-acylsphingosine amidohydrolase 1 JBrowse link 16 53,998,604 54,030,006 RGD:7240710
RGD:8554872
G Sod2 superoxide dismutase 2 JBrowse link 1 47,914,757 47,921,587 RGD:11554173
Gaucher Disease, Type IIIc term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gba glucosylceramidase beta JBrowse link 2 188,511,781 188,522,602 RGD:7240710
RGD:8554872
Gaucher's disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ace angiotensin I converting enzyme JBrowse link 10 94,170,766 94,213,831 RGD:11554173
G Chit1 chitinase 1 JBrowse link 13 50,947,020 50,994,644 RGD:11554173
G Gba glucosylceramidase beta JBrowse link 2 188,511,781 188,522,602 RGD:5508423
RGD:8554872
RGD:11554173
RGD:12791018
RGD:12791017
RGD:5508431
G Il4 interleukin 4 JBrowse link 10 38,963,979 38,969,531 RGD:5128511
G Pklr pyruvate kinase L/R JBrowse link 2 188,449,158 188,458,034 RGD:11535995
G Snca synuclein alpha JBrowse link 4 90,782,412 90,883,236 RGD:11554173
G Tnf tumor necrosis factor JBrowse link 20 5,189,382 5,192,000 RGD:12904037
Gaucher's disease perinatal lethal term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gba glucosylceramidase beta JBrowse link 2 188,511,781 188,522,602 RGD:7240710
RGD:8554872
Gaucher's disease type I term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gba glucosylceramidase beta JBrowse link 2 188,511,781 188,522,602 RGD:8554872
RGD:7240710
G Msh6 mutS homolog 6 JBrowse link 6 11,644,565 11,662,389 RGD:8554872
Gaucher's disease type II term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gba glucosylceramidase beta JBrowse link 2 188,511,781 188,522,602 RGD:8554872
RGD:7240710
Gaucher's disease type III term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gba glucosylceramidase beta JBrowse link 2 188,511,781 188,522,602 RGD:8554872
RGD:7240710
GM1 gangliosidosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Glb1 galactosidase, beta 1 JBrowse link 8 122,439,328 122,511,939 RGD:1598983
RGD:8554872
RGD:11554173
RGD:11086251
RGD:12910453
G Tmppe transmembrane protein with metallophosphoesterase domain JBrowse link 8 122,439,679 122,447,208 RGD:8554872
GM1 gangliosidosis type 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Glb1 galactosidase, beta 1 JBrowse link 8 122,439,328 122,511,939 RGD:8554872
RGD:7240710
G Tmppe transmembrane protein with metallophosphoesterase domain JBrowse link 8 122,439,679 122,447,208 RGD:8554872
GM1 gangliosidosis type 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Glb1 galactosidase, beta 1 JBrowse link 8 122,439,328 122,511,939 RGD:8554872
RGD:7240710
G Tmppe transmembrane protein with metallophosphoesterase domain JBrowse link 8 122,439,679 122,447,208 RGD:8554872
GM1 gangliosidosis type 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Glb1 galactosidase, beta 1 JBrowse link 8 122,439,328 122,511,939 RGD:7240710
RGD:8554872
G Tmppe transmembrane protein with metallophosphoesterase domain JBrowse link 8 122,439,679 122,447,208 RGD:8554872
GM2 gangliosidosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gm2a GM2 ganglioside activator JBrowse link 10 40,438,394 40,450,927 RGD:1598993
G Hexa hexosaminidase subunit alpha JBrowse link 8 64,325,435 64,350,775 RGD:8554872
G Snca synuclein alpha JBrowse link 4 90,782,412 90,883,236 RGD:6480199
G Sncb synuclein, beta JBrowse link 17 10,384,472 10,392,776 RGD:6480199
GM2 Gangliosidosis, AB variant term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gm2a GM2 ganglioside activator JBrowse link 10 40,438,394 40,450,927 RGD:7240710
RGD:8554872
Gm2-Gangliosidosis, Adult Chronic Type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hexa hexosaminidase subunit alpha JBrowse link 8 64,325,435 64,350,775 RGD:8554872
Gm2-Gangliosidosis, Variant B1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hexa hexosaminidase subunit alpha JBrowse link 8 64,325,435 64,350,775 RGD:8554872
Krabbe disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cdh23 cadherin-related 23 JBrowse link 20 29,857,018 30,263,758 RGD:8554872
G Galc galactosylceramidase JBrowse link 6 122,177,195 122,239,411 RGD:7240710
RGD:8554872
G Psap prosaposin JBrowse link 20 29,831,302 29,856,876 RGD:8554872
RGD:13592920
Krabbe Disease, Atypical, due to Saposin A Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Psap prosaposin JBrowse link 20 29,831,302 29,856,876 RGD:7240710
RGD:8554872
metachromatic leukodystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Arsa arylsulfatase A JBrowse link 7 130,446,644 130,452,632 RGD:1358435
RGD:8554872
RGD:7240710
RGD:1358434
G Arsb arylsulfatase B JBrowse link 2 23,385,154 23,543,028 RGD:8554872
G Cdh23 cadherin-related 23 JBrowse link 20 29,857,018 30,263,758 RGD:8554872
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit JBrowse link 1 80,293,574 80,307,334 RGD:8554872
G Mal mal, T-cell differentiation protein JBrowse link 3 120,209,647 120,233,655 RGD:1358761
G Psap prosaposin JBrowse link 20 29,831,302 29,856,876 RGD:8554872
RGD:13592920
G Scp2 sterol carrier protein 2 JBrowse link 5 127,647,934 127,735,703 RGD:8554872
Metachromatic Leukodystrophy due to Saposin B Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Psap prosaposin JBrowse link 20 29,831,302 29,856,876 RGD:7240710
mucosulfatidosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sumf1 sulfatase modifying factor 1 JBrowse link 4 140,139,017 140,220,482 RGD:7240710
RGD:8554872
RGD:11554173
G Sumf2 sulfatase modifying factor 2 JBrowse link 12 30,465,025 30,490,683 RGD:8554872
Niemann-Pick disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abl1 ABL proto-oncogene 1, non-receptor tyrosine kinase JBrowse link 3 10,041,820 10,145,076 RGD:8693571
G Npc1 NPC intracellular cholesterol transporter 1 JBrowse link 18 3,616,878 3,662,656 RGD:13592920
G Npc2 NPC intracellular cholesterol transporter 2 JBrowse link 6 108,467,410 108,488,330 RGD:1601483
RGD:13592920
G Smpd1 sphingomyelin phosphodiesterase 1 JBrowse link 1 170,383,682 170,387,525 RGD:1601336
RGD:11554173
Niemann-Pick disease type A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Itpr1 inositol 1,4,5-trisphosphate receptor, type 1 JBrowse link 4 140,247,297 140,580,749 RGD:6482797
G Smpd1 sphingomyelin phosphodiesterase 1 JBrowse link 1 170,383,682 170,387,525 RGD:7240710
RGD:8554872
Niemann-Pick disease type B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Loxhd1 lipoxygenase homology domains 1 JBrowse link 18 73,645,365 73,812,271 RGD:8554872
G Smpd1 sphingomyelin phosphodiesterase 1 JBrowse link 1 170,383,682 170,387,525 RGD:7240710
RGD:8554872
Niemann-Pick disease type C1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abl1 ABL proto-oncogene 1, non-receptor tyrosine kinase JBrowse link 3 10,041,820 10,145,076 RGD:10047095
G Jak2 Janus kinase 2 JBrowse link 1 247,398,667 247,457,521 RGD:10403054
G Lipa lipase A, lysosomal acid type JBrowse link 1 252,816,536 252,959,348 RGD:11554173
G Npc1 NPC intracellular cholesterol transporter 1 JBrowse link 18 3,616,878 3,662,656 RGD:7240710
RGD:8554872
RGD:11554173
G Npc2 NPC intracellular cholesterol transporter 2 JBrowse link 6 108,467,410 108,488,330 RGD:8554872
G Rmc1 regulator of MON1-CCZ1 JBrowse link 18 3,597,210 3,617,160 RGD:8554872
G Stat3 signal transducer and activator of transcription 3 JBrowse link 10 88,790,401 88,842,263 RGD:10403054
Niemann-Pick disease type C2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Acyp1 acylphosphatase 1 JBrowse link 6 109,097,065 109,110,266 RGD:8554872
G Npc2 NPC intracellular cholesterol transporter 2 JBrowse link 6 108,467,410 108,488,330 RGD:7240710
RGD:8554872
Niemann-Pick Disease Type D term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Npc1 NPC intracellular cholesterol transporter 1 JBrowse link 18 3,616,878 3,662,656 RGD:8554872
Niemann-Pick Disease, Intermediate, Protracted Neurovisceral term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Smpd1 sphingomyelin phosphodiesterase 1 JBrowse link 1 170,383,682 170,387,525 RGD:8554872
Pseudoarylsulfatase A Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Arsa arylsulfatase A JBrowse link 7 130,446,644 130,452,632 RGD:8554872
Sandhoff disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ccl3 C-C motif chemokine ligand 3 JBrowse link 10 70,869,516 70,871,066 RGD:7241825
G Gfm2 GTP dependent ribosome recycling factor mitochondrial 2 JBrowse link 2 27,949,195 27,984,045 RGD:8554872
G Hexb hexosaminidase subunit beta JBrowse link 2 27,983,925 28,003,260 RGD:1599422
RGD:8554872
RGD:7240710
Sandhoff Disease, Adult Type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hexb hexosaminidase subunit beta JBrowse link 2 27,983,925 28,003,260 RGD:8554872
Sandhoff Disease, Infantile Type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hexb hexosaminidase subunit beta JBrowse link 2 27,983,925 28,003,260 RGD:8554872
Sandhoff Disease, Juvenile Type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hexb hexosaminidase subunit beta JBrowse link 2 27,983,925 28,003,260 RGD:8554872
sea-blue histiocytosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Apoe apolipoprotein E JBrowse link 1 80,612,894 80,616,820 RGD:7240710
RGD:8554872
RGD:11554173
Tay-Sachs disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gm2a GM2 ganglioside activator JBrowse link 10 40,438,394 40,450,927 RGD:8554872
G Hexa hexosaminidase subunit alpha JBrowse link 8 64,325,435 64,350,775 RGD:7240710
RGD:8554872
RGD:13673908
RGD:11554173
Tay-Sachs Disease, Juvenile term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hexa hexosaminidase subunit alpha JBrowse link 8 64,325,435 64,350,775 RGD:8554872
Tay-Sachs Disease, Variant B1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hexa hexosaminidase subunit alpha JBrowse link 8 64,325,435 64,350,775 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15609
    Nutritional and Metabolic Diseases 4391
      disease of metabolism 4391
        lipid metabolism disorder 758
          lipid storage disease 379
            sphingolipidosis 48
              Fabry disease + 9
              Farber lipogranulomatosis 2
              Gaucher's disease + 9
              Krabbe disease + 3
              Niemann-Pick disease + 11
              Sulfatidosis + 9
              gangliosidosis + 9
              metachromatic leukodystrophy + 7
              mucosulfatidosis 2
              sea-blue histiocytosis 1
Path 2
Term Annotations click to browse term
  disease 15609
    disease of anatomical entity 14966
      nervous system disease 10397
        central nervous system disease 8544
          brain disease 7900
            Metabolic Brain Diseases 482
              Metabolic Brain Diseases, Inborn 415
                Lysosomal Storage Diseases, Nervous System 63
                  sphingolipidosis 48
                    Fabry disease + 9
                    Farber lipogranulomatosis 2
                    Gaucher's disease + 9
                    Krabbe disease + 3
                    Niemann-Pick disease + 11
                    Sulfatidosis + 9
                    gangliosidosis + 9
                    metachromatic leukodystrophy + 7
                    mucosulfatidosis 2
                    sea-blue histiocytosis 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.