MCID: MTC067
MIFTS: 17

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 52 12
Metachromatic Leukodystrophy Due to Cerebroside Sulfatase Activator Deficiency 48 24 70
Metachromatic Leukodystrophy Due to Saposin B Deficiency 48 24 68
 
Saposin B Deficiency 24 70
Leukodystrophy Metachromatic Due to Saposin-B Deficiency 70
Mld-Sapb 70

Characteristics:

HPO:

64
metachromatic leukodystrophy due to sap-b deficiency:
Inheritance: autosomal recessive inheritance
Onset and clinical course: variable expressivity

Classifications:



External Ids:

OMIM52 249900
MedGen37 C0268262
MeSH39 D007966

Summaries for Metachromatic Leukodystrophy Due to Sap-B Deficiency

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UniProtKB/Swiss-Prot:70 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 urinary incontinence, decreased nerve conduction velocity and seizures. An important gene associated with Metachromatic Leukodystrophy Due to Sap-B Deficiency is PSAP (Prosaposin).

Description from OMIM:52 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 leukodystrophy11.3

Symptoms & Phenotypes for Metachromatic Leukodystrophy Due to Sap-B Deficiency

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Symptoms by clinical synopsis from OMIM:

249900

Clinical features from OMIM:

249900

Human phenotypes related to Metachromatic Leukodystrophy Due to Sap-B Deficiency:

 64 (show all 20)
id Description HPO Frequency HPO Source Accession
1 urinary incontinence64 HP:0000020
2 decreased nerve conduction velocity64 HP:0000762
3 seizures64 HP:0001250
4 muscular hypotonia64 HP:0001252
5 dysarthria64 HP:0001260
6 global developmental delay64 HP:0001263
7 hyporeflexia64 HP:0001265
8 mental deterioration64 HP:0001268
9 polyneuropathy64 HP:0001271
10 spastic tetraparesis64 HP:0001285
11 muscle weakness64 HP:0001324
12 hyperreflexia64 HP:0001347
13 dysphagia64 HP:0002015
14 gait ataxia64 HP:0002066
15 loss of speech64 HP:0002371
16 developmental regression64 HP:0002376
17 abnormality of the periventricular white matter64 HP:0002518
18 babinski sign64 HP:0003487
19 cns demyelination64 HP:0007305
20 peripheral demyelination64 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 Deficiency24 PSAP

Anatomical Context for Metachromatic Leukodystrophy Due to Sap-B Deficiency

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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:

70
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)SNVPathogenicrs121918103GRCh37Chr 10, 73587841: 73587841
2PSAPPSAP, IVS4AS, C-ASNVPathogenicChr na, -1: -1
3PSAPNM_001042465.2(PSAP): c.722G> C (p.Cys241Ser)SNVPathogenicrs121918104GRCh37Chr 10, 73585649: 73585649
4PSAPPSAP, IVS5AS, G-T, -1SNVPathogenicChr na, -1: -1
5PSAPNM_001042465.2(PSAP): c.643A> C (p.Asn215His)SNVPathogenicrs121918107GRCh37Chr 10, 73587848: 73587848
6PSAPPSAP, IVS5AS, A-G, -2SNVPathogenicChr na, -1: -1
7PSAPPSAP, 2-BP DEL, 828GAdeletionPathogenicChr na, -1: -1

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
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet