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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:metachromatic leukodystrophy
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Accession:DOID:10581 term browser browse the term
Definition:An autosomal recessive metabolic disease caused by a deficiency of CEREBROSIDE-SULFATASE leading to intralysosomal accumulation of cerebroside sulfate (SULFOGLYCOSPHINGOLIPIDS) in the nervous system and other organs. Pathological features include diffuse demyelination, and metachromatically-staining granules in many cell types such as the GLIAL CELLS. There are several allelic and nonallelic forms with a variety of neurological symptoms.
Synonyms:exact_synonym: ARSA Deficiencies;   ARSA Deficiency;   Adult Metachromatic Leukodystrophies;   Adult-Type Metachromatic Leukodystrophies;   Adult-Type Metachromatic Leukodystrophy;   Arylsulfatase A Deficiencies;   Arylsulfatase A Deficiency;   Arylsulfatase A Deficiency Disease;   Cerebral sclerosis, Diffuse, Metachromatic Form;   Cerebroside Sulfatase Deficiencies;   Cerebroside Sulfatase Deficiency;   Cerebroside Sulphatase Deficiency Disease;   Greenfield Disease;   Greenfield's Disease;   Infant Metachromatic Leukodystrophies;   Infant Metachromatic Leukodystrophy;   Infant-Type Metachromatic Leukodystrophies;   Infant-Type Metachromatic Leukodystrophy;   Juvenile Metachromatic Leukodystrophies;   Juvenile-Type Metachromatic Leukodystrophies;   Juvenile-Type Metachromatic Leukodystrophy;   MLD;   Metachromatic Leukodystrophies;   Metachromatic Leukoencephalopathies;   Metachromatic Leukoencephalopathy;   Scholz cerebral sclerosis;   Sulfatide Lipidosis;   deficiency of cerebroside-sulfatase;   sulfatide lipoidosis
 narrow_synonym: CEREBROSIDE SULFATASE DEFICIENCY PSEUDOARYLSULFATASE A DEFICIENCY;   METACHROMATIC LEUKODYSTROPHY, ADULT;   METACHROMATIC LEUKODYSTROPHY, JUVENILE;   METACHROMATIC LEUKODYSTROPHY, LATE INFANTILE;   METACHROMATIC LEUKODYSTROPHY, MILD;   METACHROMATIC LEUKODYSTROPHY, SEVERE
 related_synonym: ARYLSULFATASE A PSEUDODEFICIENCY, SEVERE;   Arylsulfatase A Pseudodeficiency;   METACHROMATIC LEUKODYSTROPHY VARIANT
 primary_id: MESH:D007966;   RDO:0004525
 alt_id: OMIM:250100
 xref: GARD:3230;   ICD10CM:E75.25;   NCI:C61251;   ORDO:512
For additional species annotation, visit the Alliance of Genome Resources.

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metachromatic leukodystrophy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arsa arylsulfatase A ISO ClinVar Annotator: match by term: Metachromatic leukodystrophy
ClinVar Annotator: match by term: Metachromatic leukodystrophy, juvenile type
ClinVar Annotator: match by term: Metachromatic leukodystrophy, severe
ClinVar Annotator: match by term: Metachromatic leukodystrophy, late infantile
ClinVar Annotator: match by term: Metachromatic leukodystrophy, adult type
ClinVar Annotator: match by term: Metachromatic leukodystrophy, mild
ClinVar Annotator: match by term: Arylsulfatase A Deficiency
ClinVar Annotator: match by OMIM:250100
ClinVar Annotator: match by term: Arylsulfatase a pseudodeficiency, severe
ClinVar Annotator: match by term: Metachromatic leukodystrophy, adult, UMLS MESH term: Adult-Type Metachromatic Leukodystrophies
ClinVar Annotator: match by synonym: Metachromatic leukodystrophy, late infantile		 ClinVar
OMIM		 PMID:1284530 PMID:1353340 PMID:1357970 PMID:1670590 PMID:1671769 PMID:1673291 PMID:1674719 PMID:1676699 PMID:1678251 PMID:1684088 PMID:1975241 PMID:2574462 PMID:6122378 PMID:7581401 PMID:7649558 PMID:7815433 PMID:7815434 PMID:7825603 PMID:7833949 PMID:7858169 PMID:7860068 PMID:7866401 PMID:7902317 PMID:7906588 PMID:7909527 PMID:7981715 PMID:8095918 PMID:8101038 PMID:8101083 PMID:8104633 PMID:8455580 PMID:8723680 PMID:8891236 PMID:8962139 PMID:8982952 PMID:9090526 PMID:9096767 PMID:9192271 PMID:9402957 PMID:9452102 PMID:9490297 PMID:9600244 PMID:9668161 PMID:9744473 PMID:9819708 PMID:10220151 PMID:10381328 PMID:10459747 PMID:10477432 PMID:10533072 PMID:10751093 PMID:11013459 PMID:11020646 PMID:11061266 PMID:11456299 PMID:11777924 PMID:11941485 PMID:12035837 PMID:12081727 PMID:12086582 PMID:12116203 PMID:12445909 PMID:12503099 PMID:12788103 PMID:12809637 PMID:12809638 PMID:14517960 PMID:14571263 PMID:14680985 PMID:15026521 PMID:15139291 PMID:15211666 PMID:15326627 PMID:15375602 PMID:15720392 PMID:15952986 PMID:16110195 PMID:16546179 PMID:16678723 PMID:16966551 PMID:17438611 PMID:17560502 PMID:18693274 PMID:18768108 PMID:18786133 PMID:18832844 PMID:19021637 PMID:19154224 PMID:19565006 PMID:19606494 PMID:19815439 PMID:20301309 PMID:20339381 PMID:20646068 PMID:20890085 PMID:21167507 PMID:21265945 PMID:22216298 PMID:22798296 PMID:22993277 PMID:23208745 PMID:23559313 PMID:23581857 PMID:23701968 PMID:23845948 PMID:24001781 PMID:24033266 PMID:25297594 PMID:25525159 PMID:25741868 PMID:25965562 PMID:25987178 PMID:26000324 PMID:26131420 PMID:26462614 PMID:26467025 PMID:26553228 PMID:26890752 PMID:26915897 PMID:27261095 PMID:27289174 PMID:27374302 PMID:27779215 PMID:27904824 PMID:28296894 PMID:28492532 PMID:28667691 PMID:28670130 PMID:28762252 PMID:29457794 PMID:29544907 PMID:29915382 PMID:29966168 PMID:30057904 PMID:30293248 PMID:30828547 PMID:31186049 PMID:31694723 PMID:31967741 PMID:32632536 PMID:32860008 PMID:33335837, PMID:15375602, PMID:15026521 RGD:1358435, RGD:1358434 NCBI chr 7:130,446,644...130,452,632
Ensembl chr 7:130,446,668...130,451,283 		JBrowse link
G Arsb arylsulfatase B ISO ClinVar Annotator: match by term: Metachromatic leukodystrophy ClinVar PMID:1550123 PMID:8116615 PMID:8651289 PMID:10923267 PMID:11939792 PMID:14974081 PMID:16435196 PMID:17458871 PMID:17643332 PMID:18406185 PMID:21514195 PMID:21791832 PMID:21917494 PMID:22133300 PMID:22441840 PMID:23557332 PMID:23657977 PMID:24221504 PMID:24373060 PMID:24767253 PMID:25741868 PMID:28492532 PMID:30118150 NCBI chr 2:23,385,154...23,543,028
Ensembl chr 2:23,385,183...23,544,963 		JBrowse link
G Cdh23 cadherin-related 23 ISO ClinVar Annotator: match by term: Arylsulfatase A Deficiency
ClinVar Annotator: match by term: Metachromatic leukodystrophy		 ClinVar PMID:18429043 PMID:24033266 PMID:24416283 PMID:25741868 PMID:25991456 PMID:28492532 NCBI chr20:29,857,018...30,263,758
Ensembl chr20:29,857,637...29,990,111 		JBrowse link
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit ISO ClinVar Annotator: match by term: Metachromatic leukodystrophy variant ClinVar PMID:11709541 PMID:20633800 PMID:24728327 PMID:25741868 PMID:27504877 NCBI chr 1:80,293,574...80,307,334
Ensembl chr 1:80,293,566...80,307,344 		JBrowse link
G Mal mal, T-cell differentiation protein ISO RGD PMID:15193296 RGD:1358761 NCBI chr 3:120,209,647...120,233,655
Ensembl chr 3:120,209,647...120,233,655 		JBrowse link
G Psap prosaposin ISO
ISS		 ClinVar Annotator: match by term: Metachromatic leukodystrophy
OMIM:249900 | OMIM:250100
ClinVar Annotator: match by term: Arylsulfatase A Deficiency		 ClinVar
MouseDO		 PMID:18429043 PMID:24033266 PMID:24416283 PMID:25741868 PMID:25991456 PMID:28492532 NCBI chr20:29,831,302...29,856,876
Ensembl chr20:29,831,314...29,856,875 		JBrowse link
G Scp2 sterol carrier protein 2 ISO ClinVar Annotator: match by term: Metachromatic leukodystrophy variant ClinVar PMID:25741868 NCBI chr 5:127,647,934...127,735,703
Ensembl chr 5:127,620,274...127,735,739 		JBrowse link
combined saposin deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdh23 cadherin-related 23 ISO ClinVar Annotator: match by term: PROSAPOSIN DEFICIENCY
ClinVar Annotator: match by term: Sphingolipid activator protein 1 deficiency
ClinVar Annotator: match by term: Combined saposin deficiency		 ClinVar PMID:18429043 PMID:24033266 PMID:24416283 PMID:25741868 PMID:25991456 PMID:28492532 NCBI chr20:29,857,018...30,263,758
Ensembl chr20:29,857,637...29,990,111 		JBrowse link
G Psap prosaposin ISO ClinVar Annotator: match by term: Sphingolipid activator protein 1 deficiency
ClinVar Annotator: match by term: Combined saposin deficiency
ClinVar Annotator: match by OMIM:611721
ClinVar Annotator: match by null		 OMIM
ClinVar		 PMID:1350885 PMID:1371116 PMID:1689485 PMID:2019586 PMID:2066109 PMID:2302219 PMID:2320574 PMID:2514102 PMID:8370580 PMID:8554069 PMID:10196694 PMID:10682309 PMID:11309366 PMID:17561962 PMID:17616409 PMID:17919309 PMID:18429043 PMID:18693274 PMID:19267410 PMID:19955343 PMID:20484222 PMID:24033266 PMID:24416283 PMID:25741868 PMID:25991456 PMID:26462614 PMID:28492532 PMID:30632081 NCBI chr20:29,831,302...29,856,876
Ensembl chr20:29,831,314...29,856,875 		JBrowse link
Metachromatic Leukodystrophy due to Saposin B Deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdh23 cadherin-related 23 ISO ClinVar Annotator: match by term: Saposin B Deficiency ClinVar PMID:25741868 NCBI chr20:29,857,018...30,263,758
Ensembl chr20:29,857,637...29,990,111 		JBrowse link
G Psap prosaposin ISO ClinVar Annotator: match by term: Saposin B Deficiency OMIM
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr20:29,831,302...29,856,876
Ensembl chr20:29,831,314...29,856,875 		JBrowse link
Pseudoarylsulfatase A Deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arsa arylsulfatase A ISO ClinVar Annotator: match by term: Pseudoarylsulfatase A deficiency ClinVar PMID:8101038 PMID:15326627 PMID:15720392 PMID:24001781 PMID:25741868 PMID:26462614 PMID:28492532 PMID:28670130 PMID:28762252 NCBI chr 7:130,446,644...130,452,632
Ensembl chr 7:130,446,668...130,451,283 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16123
    disease of anatomical entity 15370
      nervous system disease 10975
        neurodegenerative disease 3220
          demyelinating disease 434
            Hereditary Central Nervous System Demyelinating Diseases 41
              metachromatic leukodystrophy 7
                Diffuse Cerebral Sclerosis, Scholz Type 0
                Metachromatic Leukodystrophy due to Saposin B Deficiency 2
                Metachromatic Leukodystrophy, Adult-Onset, with Normal Arylsulfatase A 0
                Pseudoarylsulfatase A Deficiency 1
                combined saposin deficiency 2
Path 2
Term Annotations click to browse term
  disease 16123
    disease of anatomical entity 15370
      nervous system disease 10975
        central nervous system disease 9096
          brain disease 8405
            Metabolic Brain Diseases 577
              Metabolic Brain Diseases, Inborn 507
                Lysosomal Storage Diseases, Nervous System 66
                  sphingolipidosis 50
                    Sulfatidosis 9
                      metachromatic leukodystrophy 7
                        Diffuse Cerebral Sclerosis, Scholz Type 0
                        Metachromatic Leukodystrophy due to Saposin B Deficiency 2
                        Metachromatic Leukodystrophy, Adult-Onset, with Normal Arylsulfatase A 0
                        Pseudoarylsulfatase A Deficiency 1
                        combined saposin deficiency 2
paths to the root