MCID: MTC067
MIFTS: 16

Metachromatic Leukodystrophy Due to Sap-B Deficiency malady

Genetic diseases, Rare diseases categories

Aliases & Classifications for Metachromatic Leukodystrophy Due to Sap-B Deficiency

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Metachromatic Leukodystrophy Due to Sap-B Deficiency, Aliases & Descriptions:

Name: Metachromatic Leukodystrophy Due to Sap-B Deficiency 45 10
Metachromatic Leukodystrophy Due to Saposin B Deficiency 45 41 20 60
 
Metachromatic Leukodystrophy Due to Cerebroside Sulfatase Activator Deficiency 41


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases


External Ids:

OMIM45 249900

Summaries for Metachromatic Leukodystrophy Due to Sap-B Deficiency

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MalaCards based summary: Metachromatic Leukodystrophy Due to Sap-B Deficiency, also known as metachromatic leukodystrophy due to saposin b deficiency, is related to metachromatic leukodystrophy, and has symptoms including autosomal recessive inheritance, urinary incontinence and decreased nerve conduction velocity. An important gene associated with Metachromatic Leukodystrophy Due to Sap-B Deficiency is PSAP (prosaposin).

Description from OMIM:45 249900

Related Diseases for Metachromatic Leukodystrophy Due to Sap-B Deficiency

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Diseases related to Metachromatic Leukodystrophy Due to Sap-B Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1metachromatic leukodystrophy10.6

Graphical network of diseases related to Metachromatic Leukodystrophy Due to Sap-B Deficiency:



Diseases related to metachromatic leukodystrophy due to sap-b deficiency

Symptoms for Metachromatic Leukodystrophy Due to Sap-B Deficiency

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Symptoms by clinical synopsis from OMIM:

249900

Clinical features from OMIM:

249900

HPO human phenotypes related to Metachromatic Leukodystrophy Due to Sap-B Deficiency:

(show all 22)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 urinary incontinence HP:0000020
3 decreased nerve conduction velocity HP:0000762
4 seizures HP:0001250
5 muscular hypotonia HP:0001252
6 dysarthria HP:0001260
7 global developmental delay HP:0001263
8 hyporeflexia HP:0001265
9 mental deterioration HP:0001268
10 polyneuropathy HP:0001271
11 spastic tetraparesis HP:0001285
12 muscle weakness HP:0001324
13 hyperreflexia HP:0001347
14 dysphagia HP:0002015
15 gait ataxia HP:0002066
16 loss of speech HP:0002371
17 developmental regression HP:0002376
18 abnormality of the periventricular white matter HP:0002518
19 babinski sign HP:0003487
20 variable expressivity HP:0003828
21 cns demyelination HP:0007305
22 peripheral demyelination HP:0011096

Drugs & Therapeutics for Metachromatic Leukodystrophy Due to Sap-B Deficiency

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Drug clinical trials:

Search ClinicalTrials for Metachromatic Leukodystrophy Due to Sap-B Deficiency

Search NIH Clinical Center for Metachromatic Leukodystrophy Due to Sap-B Deficiency

Genetic Tests for Metachromatic Leukodystrophy Due to Sap-B Deficiency

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Genetic tests related to Metachromatic Leukodystrophy Due to Sap-B Deficiency:

id Genetic test Affiliating Genes
1 Metachromatic Leukodystrophy Due to Saposin B Deficiency20 PSAP

Anatomical Context for Metachromatic Leukodystrophy Due to Sap-B Deficiency

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Animal Models for Metachromatic Leukodystrophy Due to Sap-B Deficiency or affiliated genes

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Publications for Metachromatic Leukodystrophy Due to Sap-B Deficiency

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Variations for Metachromatic Leukodystrophy Due to Sap-B Deficiency

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UniProtKB/Swiss-Prot genetic disease variations for Metachromatic Leukodystrophy Due to Sap-B Deficiency:

62
id Symbol AA change Variation ID SNP ID
1PSAPp.Thr217IleVAR_006943
2PSAPp.Cys241SerVAR_006944rs1130793
3PSAPp.Asn215HisVAR_031823
4PSAPp.Asn215LysVAR_031899

Clinvar genetic disease variations for Metachromatic Leukodystrophy Due to Sap-B Deficiency:

6
id Gene Variation Type Significance SNP ID Assembly Location
1PSAPNM_001042465.1(PSAP): c.650C> T (p.Thr217Ile)single nucleotide variantPathogenicrs121918103GRCh37Chr 10, 73587841: 73587841
2PSAPPSAP, IVS4AS, C-Asingle nucleotide variantPathogenic
3PSAPNM_001042465.1(PSAP): c.722G> C (p.Cys241Ser)single nucleotide variantPathogenicrs121918104GRCh37Chr 10, 73585649: 73585649
4PSAPPSAP, IVS5AS, G-T, -1single nucleotide variantPathogenic
5PSAPNM_001042465.1(PSAP): c.643A> C (p.Asn215His)single nucleotide variantPathogenicrs121918107GRCh37Chr 10, 73587848: 73587848
6PSAPPSAP, IVS5AS, A-G, -2single nucleotide variantPathogenic
7PSAPPSAP, 2-BP DEL, 828GAdeletionPathogenic

Expression for genes affiliated with Metachromatic Leukodystrophy Due to Sap-B Deficiency

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Search GEO for disease gene expression data for Metachromatic Leukodystrophy Due to Sap-B Deficiency.

Pathways for genes affiliated with Metachromatic Leukodystrophy Due to Sap-B Deficiency

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Compounds for genes affiliated with Metachromatic Leukodystrophy Due to Sap-B Deficiency

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GO Terms for genes affiliated with Metachromatic Leukodystrophy Due to Sap-B Deficiency

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Products for genes affiliated with Metachromatic Leukodystrophy Due to Sap-B Deficiency

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Metachromatic Leukodystrophy Due to Sap-B Deficiency

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet