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 49 11
Metachromatic Leukodystrophy Due to Cerebroside Sulfatase Activator Deficiency 45 22 67
Metachromatic Leukodystrophy Due to Saposin B Deficiency 45 22 65
 
Saposin B Deficiency 22 67
Leukodystrophy Metachromatic Due to Saposin-B Deficiency 67
Mld-Sapb 67

Characteristics:

HPO:

61
metachromatic leukodystrophy due to sap-b deficiency:
Onset and clinical course: variable expressivity
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 249900
MedGen34 C0268262
MeSH36 D007966
UMLS65 C0268262

Summaries for Metachromatic Leukodystrophy Due to Sap-B Deficiency

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UniProtKB/Swiss-Prot:67 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 peripheral demyelination, cns demyelination and babinski sign. An important gene associated with Metachromatic Leukodystrophy Due to Sap-B Deficiency is PSAP (Prosaposin).

Description from OMIM:49 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 leukodystrophy10.8

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

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 Deficiency22 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:

67
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:

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
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet