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 51 12
Metachromatic Leukodystrophy Due to Cerebroside Sulfatase Activator Deficiency 47 24 69
Metachromatic Leukodystrophy Due to Saposin B Deficiency 47 24 67
 
Saposin B Deficiency 24 69
Leukodystrophy Metachromatic Due to Saposin-B Deficiency 69
Mld-Sapb 69

Characteristics:

HPO:

63
metachromatic leukodystrophy due to sap-b deficiency:
Inheritance: autosomal recessive inheritance
Onset and clinical course: variable expressivity

Classifications:



External Ids:

OMIM51 249900
MedGen36 C0268262
MeSH38 D007966

Summaries for Metachromatic Leukodystrophy Due to Sap-B Deficiency

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UniProtKB/Swiss-Prot:69 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:51 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 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:

 63 (show all 20)
id Description HPO Frequency HPO Source Accession
1 urinary incontinence63 HP:0000020
2 decreased nerve conduction velocity63 HP:0000762
3 seizures63 HP:0001250
4 muscular hypotonia63 HP:0001252
5 dysarthria63 HP:0001260
6 global developmental delay63 HP:0001263
7 hyporeflexia63 HP:0001265
8 mental deterioration63 HP:0001268
9 polyneuropathy63 HP:0001271
10 spastic tetraparesis63 HP:0001285
11 muscle weakness63 HP:0001324
12 hyperreflexia63 HP:0001347
13 dysphagia63 HP:0002015
14 gait ataxia63 HP:0002066
15 loss of speech63 HP:0002371
16 developmental regression63 HP:0002376
17 abnormality of the periventricular white matter63 HP:0002518
18 babinski sign63 HP:0003487
19 cns demyelination63 HP:0007305
20 peripheral demyelination63 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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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:

69
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
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet