MCID: MTC067
MIFTS: 18

Metachromatic Leukodystrophy Due to Sap-B Deficiency malady

Categories: Genetic diseases, Rare diseases

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

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

Name: Metachromatic Leukodystrophy Due to Sap-B Deficiency 50 12
Metachromatic Leukodystrophy Due to Cerebroside Sulfatase Activator Deficiency 46 23 68
Metachromatic Leukodystrophy Due to Saposin B Deficiency 46 23 66
 
Saposin B Deficiency 23 68
Leukodystrophy Metachromatic Due to Saposin-B Deficiency 68
Mld-Sapb 68

Characteristics:

HPO:

62
metachromatic leukodystrophy due to sap-b deficiency:
Inheritance: autosomal recessive inheritance
Onset and clinical course: variable expressivity


Classifications:



External Ids:

OMIM50 249900
MedGen35 C0268262
MeSH37 D007966

Summaries for Metachromatic Leukodystrophy Due to Sap-B Deficiency

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UniProtKB/Swiss-Prot:68 Leukodystrophy metachromatic due to saposin-B deficiency: An atypical form of metachromatic leukodystrophy. It is characterized by tissue accumulation of cerebroside-3-sulfate, demyelination, periventricular white matter abnormalities, peripheral neuropathy. Additional neurological features include dysarthria, ataxic gait, psychomotor regression, seizures, cognitive decline and spastic quadriparesis.

MalaCards based summary: Metachromatic Leukodystrophy Due to Sap-B Deficiency, also known as metachromatic leukodystrophy due to cerebroside sulfatase activator deficiency, is related to metachromatic leukodystrophy, and has symptoms including muscle spasticity, seizures and gait ataxia. An important gene associated with Metachromatic Leukodystrophy Due to Sap-B Deficiency is PSAP (Prosaposin).

Description from OMIM:50 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 leukodystrophy10.4

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

UMLS symptoms related to Metachromatic Leukodystrophy Due to Sap-B Deficiency:


muscle spasticity, seizures, gait ataxia, weakness

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

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Interventional clinical trials:

Search ClinicalTrials, 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 Deficiency23 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:

68
id Symbol AA change Variation ID SNP ID
1PSAPp.Thr217IleVAR_006943rs121918103
2PSAPp.Cys241SerVAR_006944rs1130793
3PSAPp.Asn215HisVAR_031823rs121918107
4PSAPp.Asn215LysVAR_031899rs770171865

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

5
id Gene Variation Type Significance SNP ID Assembly Location
1PSAPNM_001042465.2(PSAP): c.650C> T (p.Thr217Ile)single nucleotide variantPathogenicrs121918103GRCh37Chr 10, 73587841: 73587841
2PSAPPSAP, IVS4AS, C-Asingle nucleotide variantPathogenic
3PSAPNM_001042465.2(PSAP): c.722G> C (p.Cys241Ser)single nucleotide variantPathogenicrs121918104GRCh37Chr 10, 73585649: 73585649
4PSAPPSAP, IVS5AS, G-T, -1single nucleotide variantPathogenic
5PSAPNM_001042465.2(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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GO Terms for genes affiliated with Metachromatic Leukodystrophy Due to Sap-B Deficiency

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Sources for Metachromatic Leukodystrophy Due to Sap-B Deficiency

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet