MCID: MTC019
MIFTS: 25

Metachromatic Leukodystrophy Due to Saposin B Deficiency

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Metachromatic Leukodystrophy Due to Saposin B Deficiency

MalaCards integrated aliases for Metachromatic Leukodystrophy Due to Saposin B Deficiency:

Name: Metachromatic Leukodystrophy Due to Saposin B Deficiency 57 53 73
Metachromatic Leukodystrophy Due to Cerebroside Sulfatase Activator Deficiency 57 53 75
Metachromatic Leukodystrophy Due to Sap-B Deficiency 57 13
Saposin B Deficiency 57 75
Leukodystrophy Metachromatic Due to Saposin-B Deficiency 75
Mld-Sapb 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
variable severity
variable age at onset (infant to adult)
disease course depends on age at onset


HPO:

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


Classifications:



Summaries for Metachromatic Leukodystrophy Due to Saposin B Deficiency

UniProtKB/Swiss-Prot : 75 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 Saposin 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 Saposin B Deficiency is PSAP (Prosaposin). Affiliated tissues include bone and bone marrow, and related phenotypes are seizures and muscular hypotonia

Description from OMIM: 249900

Related Diseases for Metachromatic Leukodystrophy Due to Saposin B Deficiency

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

# Related Disease Score Top Affiliating Genes
1 metachromatic leukodystrophy 11.4

Symptoms & Phenotypes for Metachromatic Leukodystrophy Due to Saposin B Deficiency

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
seizures
spasticity
dysarthria
hyperreflexia
hyporeflexia
more
Neurologic Peripheral Nervous System:
peripheral neuropathy
hyporeflexia
decreased nerve conduction velocities

Genitourinary Bladder:
incontinence

Abdomen Gastrointestinal:
dysphagia

Muscle Soft Tissue:
hypotonia
weakness

Laboratory Abnormalities:
normal or mildly decreased arylsulfatase a activity
saposin b deficiency
submucosal macrophages filled with sphingolipids
increased urinary sulfatides


Clinical features from OMIM:

249900

Human phenotypes related to Metachromatic Leukodystrophy Due to Saposin B Deficiency:

32 (show all 21)
# Description HPO Frequency HPO Source Accession
1 seizures 32 HP:0001250
2 muscular hypotonia 32 HP:0001252
3 dysarthria 32 HP:0001260
4 muscle weakness 32 HP:0001324
5 hyperreflexia 32 HP:0001347
6 dysphagia 32 HP:0002015
7 developmental regression 32 HP:0002376
8 global developmental delay 32 HP:0001263
9 decreased nerve conduction velocity 32 HP:0000762
10 gait ataxia 32 HP:0002066
11 babinski sign 32 HP:0003487
12 mental deterioration 32 HP:0001268
13 hyporeflexia 32 HP:0001265
14 urinary incontinence 32 HP:0000020
15 spastic tetraparesis 32 HP:0001285
16 peripheral demyelination 32 HP:0011096
17 polyneuropathy 32 HP:0001271
18 abnormality of the periventricular white matter 32 HP:0002518
19 generalized hypotonia 32 HP:0001290
20 loss of speech 32 HP:0002371
21 cns demyelination 32 HP:0007305

UMLS symptoms related to Metachromatic Leukodystrophy Due to Saposin B Deficiency:


muscle spasticity, seizures, gait ataxia, weakness

Drugs & Therapeutics for Metachromatic Leukodystrophy Due to Saposin B Deficiency

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

Genetic Tests for Metachromatic Leukodystrophy Due to Saposin B Deficiency

Anatomical Context for Metachromatic Leukodystrophy Due to Saposin B Deficiency

MalaCards organs/tissues related to Metachromatic Leukodystrophy Due to Saposin B Deficiency:

41
Bone, Bone Marrow

Publications for Metachromatic Leukodystrophy Due to Saposin B Deficiency

Articles related to Metachromatic Leukodystrophy Due to Saposin B Deficiency:

# Title Authors Year
1
Prosaposin deficiency and saposin B deficiency (activator-deficient metachromatic leukodystrophy): report on two patients detected by analysis of urinary sphingolipids and carrying novel PSAP gene mutations. ( 19267410 )
2009
2
Neurological deficits and glycosphingolipid accumulation in saposin B deficient mice. ( 18480170 )
2008
3
Metachromatic leukodystrophy without arylsulfatase A deficiency: a new case of saposin-B deficiency. ( 17616409 )
2008
4
Bone marrow transplantation in metachromatic leukodystrophy caused by saposin-B deficiency: a case report with a 3-year follow-up period. ( 9672525 )
1998
5
Characterization of a mutation in a family with saposin B deficiency: a glycosylation site defect. ( 2320574 )
1990

Variations for Metachromatic Leukodystrophy Due to Saposin B Deficiency

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

75
# Symbol AA change Variation ID SNP ID
1 PSAP p.Thr217Ile VAR_006943 rs121918103
2 PSAP p.Cys241Ser VAR_006944 rs121918104
3 PSAP p.Asn215His VAR_031823 rs121918107
4 PSAP p.Asn215Lys VAR_031899 rs770171865

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

6
(show all 14)
# Gene Variation Type Significance SNP ID Assembly Location
1 PSAP NM_002778.3(PSAP): c.650C> T (p.Thr217Ile) single nucleotide variant Pathogenic rs121918103 GRCh37 Chromosome 10, 73587841: 73587841
2 PSAP NM_002778.3(PSAP): c.650C> T (p.Thr217Ile) single nucleotide variant Pathogenic rs121918103 GRCh38 Chromosome 10, 71828084: 71828084
3 PSAP PSAP, IVS4AS, C-A single nucleotide variant Pathogenic
4 PSAP NM_001042465.2(PSAP): c.722G> C (p.Cys241Ser) single nucleotide variant Pathogenic rs121918104 GRCh37 Chromosome 10, 73585649: 73585649
5 PSAP NM_001042465.2(PSAP): c.722G> C (p.Cys241Ser) single nucleotide variant Pathogenic rs121918104 GRCh38 Chromosome 10, 71825892: 71825892
6 PSAP PSAP, IVS5AS, G-T, -1 single nucleotide variant Pathogenic
7 PSAP NM_001042465.2(PSAP): c.643A> C (p.Asn215His) single nucleotide variant Pathogenic rs121918107 GRCh37 Chromosome 10, 73587848: 73587848
8 PSAP NM_001042465.2(PSAP): c.643A> C (p.Asn215His) single nucleotide variant Pathogenic rs121918107 GRCh38 Chromosome 10, 71828091: 71828091
9 PSAP PSAP, IVS5AS, A-G, -2 single nucleotide variant Pathogenic
10 PSAP PSAP, 2-BP DEL, 828GA deletion Pathogenic
11 PSAP NM_002778.3(PSAP): c.409C> G (p.Leu137Val) single nucleotide variant Conflicting interpretations of pathogenicity rs377027316 GRCh37 Chromosome 10, 73588801: 73588801
12 PSAP NM_002778.3(PSAP): c.409C> G (p.Leu137Val) single nucleotide variant Conflicting interpretations of pathogenicity rs377027316 GRCh38 Chromosome 10, 71829044: 71829044
13 PSAP NM_001042465.2(PSAP): c.1378G> T (p.Glu460Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 10, 73578850: 73578850
14 PSAP NM_001042465.2(PSAP): c.1378G> T (p.Glu460Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 10, 71819093: 71819093

Expression for Metachromatic Leukodystrophy Due to Saposin B Deficiency

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

Pathways for Metachromatic Leukodystrophy Due to Saposin B Deficiency

GO Terms for Metachromatic Leukodystrophy Due to Saposin B Deficiency

Sources for Metachromatic Leukodystrophy Due to Saposin B Deficiency

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11 DGIdb
17 ExPASy
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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