MLD-SAPB
MCID: MTC067
MIFTS: 17

Metachromatic Leukodystrophy Due to Sap-B Deficiency (MLD-SAPB) malady

Categories: Genetic diseases, Rare diseases

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

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

Name: Metachromatic Leukodystrophy Due to Sap-B Deficiency 54 13
Metachromatic Leukodystrophy Due to Cerebroside Sulfatase Activator Deficiency 50 24 66
Metachromatic Leukodystrophy Due to Saposin B Deficiency 50 24 69
Saposin B Deficiency 24 66
Leukodystrophy Metachromatic Due to Saposin-B Deficiency 66
Mld-Sapb 66

Characteristics:

HPO:

32
metachromatic leukodystrophy due to sap-b deficiency:
Inheritance autosomal recessive inheritance
Onset and clinical course variable expressivity


Classifications:



External Ids:

OMIM 54 249900
MedGen 40 C0268262
MeSH 42 D007966

Summaries for Metachromatic Leukodystrophy Due to Sap-B Deficiency

UniProtKB/Swiss-Prot : 66 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 seizures, muscle weakness and gait ataxia. An important gene associated with Metachromatic Leukodystrophy Due to Sap-B Deficiency is PSAP (Prosaposin).

Description from OMIM: 249900

Related Diseases for Metachromatic Leukodystrophy Due to Sap-B Deficiency

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

id Related Disease Score Top Affiliating Genes
1 metachromatic leukodystrophy 11.3

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

Symptoms by clinical synopsis from OMIM:

249900

Clinical features from OMIM:

249900

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

32 (show all 20)
id Description HPO Frequency HPO Source Accession
1 seizures 32 HP:0001250
2 muscle weakness 32 HP:0001324
3 gait ataxia 32 HP:0002066
4 muscular hypotonia 32 HP:0001252
5 dysarthria 32 HP:0001260
6 hyperreflexia 32 HP:0001347
7 dysphagia 32 HP:0002015
8 developmental regression 32 HP:0002376
9 global developmental delay 32 HP:0001263
10 decreased nerve conduction velocity 32 HP:0000762
11 babinski sign 32 HP:0003487
12 mental deterioration 32 HP:0001268
13 hyporeflexia 32 HP:0001265
14 polyneuropathy 32 HP:0001271
15 spastic tetraparesis 32 HP:0001285
16 abnormality of the periventricular white matter 32 HP:0002518
17 loss of speech 32 HP:0002371
18 urinary incontinence 32 HP:0000020
19 peripheral demyelination 32 HP:0011096
20 cns demyelination 32 HP:0007305

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

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

Genetic Tests for Metachromatic Leukodystrophy Due to Sap-B Deficiency

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

id Genetic test Affiliating Genes
1 Metachromatic Leukodystrophy Due to Saposin B Deficiency 24 PSAP

Anatomical Context for Metachromatic Leukodystrophy Due to Sap-B Deficiency

Publications for Metachromatic Leukodystrophy Due to Sap-B Deficiency

Variations for Metachromatic Leukodystrophy Due to Sap-B Deficiency

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

66
id Symbol AA change Variation ID SNP ID
1 PSAP p.Thr217Ile VAR_006943 rs121918103
2 PSAP p.Cys241Ser VAR_006944 rs1130793
3 PSAP p.Asn215His VAR_031823 rs121918107
4 PSAP p.Asn215Lys VAR_031899 rs770171865

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

6
id Gene Variation Type Significance SNP ID Assembly Location
1 PSAP NM_001042465.2(PSAP): c.650C> T (p.Thr217Ile) single nucleotide variant Pathogenic rs121918103 GRCh37 Chromosome 10, 73587841: 73587841
2 PSAP PSAP, IVS4AS, C-A single nucleotide variant Pathogenic
3 PSAP NM_001042465.2(PSAP): c.722G> C (p.Cys241Ser) single nucleotide variant Pathogenic rs121918104 GRCh37 Chromosome 10, 73585649: 73585649
4 PSAP PSAP, IVS5AS, G-T, -1 single nucleotide variant Pathogenic
5 PSAP NM_001042465.2(PSAP): c.643A> C (p.Asn215His) single nucleotide variant Pathogenic rs121918107 GRCh37 Chromosome 10, 73587848: 73587848
6 PSAP PSAP, IVS5AS, A-G, -2 single nucleotide variant Pathogenic
7 PSAP PSAP, 2-BP DEL, 828GA deletion Pathogenic

Expression for Metachromatic Leukodystrophy Due to Sap-B Deficiency

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

Pathways for Metachromatic Leukodystrophy Due to Sap-B Deficiency

GO Terms for Metachromatic Leukodystrophy Due to Sap-B Deficiency

Sources for Metachromatic Leukodystrophy Due to Sap-B Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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