MCID: MCP040
MIFTS: 50

Mucopolysaccharidosis-Plus Syndrome

Categories: Genetic diseases, Rare diseases, Metabolic diseases, Neuronal diseases, Respiratory diseases, Bone diseases, Fetal diseases, Blood diseases, Eye diseases, Skin diseases

Aliases & Classifications for Mucopolysaccharidosis-Plus Syndrome

MalaCards integrated aliases for Mucopolysaccharidosis-Plus Syndrome:

Name: Mucopolysaccharidosis-Plus Syndrome 57 75 6
Mucopolysaccharidosis 12 76 53 37 29 55 15
Mucopolysaccharidoses 44 73
Mpsps 57 75
Mucopolysaccharidosis-Like Syndrome with Congenital Heart Defects and Hematopoietic Disorders 59
Mucopolysaccharidosis-Like Plus Disease 59
Mps 53

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
most patients die in the first years of life


HPO:

32
mucopolysaccharidosis-plus syndrome:
Onset and clinical course infantile onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Mucopolysaccharidosis-Plus Syndrome

NIH Rare Diseases : 53 Mucopolysaccharidosis refers to a group of inherited conditions in which the body is unable to properly breakdown mucopolysaccharides (long chains of sugar molecules that are found throughout the body). As a result, these sugars buildup in cells, blood and connective tissue which can lead to a variety of health problems. Seven distinct forms and numerous subtypes of mucopolysaccharidosis have been identified. Associated signs and symptoms and the severity of the condition vary significantly by form. In general, most affected people appear healthy at birth and experience a period of normal development, followed by a decline in physical and/or mental function. As the condition progresses, it may affect appearance; physical abilities; organ and system functioning; and, in most cases, cognitive development. The underlying genetic cause varies by form. Most cases are inherited in an autosomal dominant manner, although one specific form (Type II) follows an X-linked pattern of inheritance. Treatment is based on the signs and symptoms present in each person. For more specific information about the various forms of mucopolysaccharidosis, please click on the links below:Mucopolysaccharidosis, Type IMucopolysaccharidosis, Type IIMucopolysaccharidosis, Type IIIMucopolysaccharidosis, Type IVMucopolysaccharidosis, Type VIMucopolysaccharidosis, Type VIIMucopolysaccharidosis, Type IX

MalaCards based summary : Mucopolysaccharidosis-Plus Syndrome, also known as mucopolysaccharidosis, is related to mucopolysaccharidosis, type iva and mucopolysaccharidosis, type ii. An important gene associated with Mucopolysaccharidosis-Plus Syndrome is VPS33A (VPS33A, CORVET/HOPS Core Subunit), and among its related pathways/superpathways are Glycosaminoglycan degradation and Lysosome. Affiliated tissues include bone, skin and heart, and related phenotypes are tubular atrophy and proteinuria

OMIM : 57 MPSPS is an autosomal recessive inborn error of metabolism resulting in a multisystem disorder with features of the mucopolysaccharidosis lysosomal storage diseases (see, e.g., 607016). Patients present in infancy or early childhood with respiratory difficulties, cardiac problems, anemia, dysostosis multiplex, renal involvement, coarse facies, and delayed psychomotor development. Most patients die of cardiorespiratory failure in the first years of life (summary by Kondo et al., 2017). (617303)

UniProtKB/Swiss-Prot : 75 Mucopolysaccharidosis-plus syndrome: A form of mucopolysaccharidosis, a group of diseases characterized by excessive accumulation and secretion of oligomucopoloysaccharides. MPSPS is a multisystemic disorder characterized by coarse facial features, dysostosis multiplex, hepatosplenomegaly, respiratory difficulties, mental retardation, developmental delay, pyramidal signs, severe chronic anemia, renal involvement and cardiac defects. Laboratory analyses show proteinuria with glomerular foamy cells, excess secretion of urinary glycosaminoglycans, and extremely high levels of plasma heparan sulphate. Disease onset is in infancy. Most patients die in the first years of life due to cardiorespiratory failure. MPSPS inheritance is autosomal recessive.

Disease Ontology : 12 A lysosomal storage disease that involves the accumulation of glycosaminoglycans in the tissues and their excretion in the urine.

Wikipedia : 76 Mucopolysaccharidoses are a group of metabolic disorders caused by the absence or malfunctioning of... more...

Related Diseases for Mucopolysaccharidosis-Plus Syndrome

Diseases in the Mucopolysaccharidosis-Plus Syndrome family:

Mucopolysaccharidosis, Type Iiia Mucopolysaccharidosis, Type Iiib
Mucopolysaccharidosis, Type Iiic Mucopolysaccharidosis, Type Iiid
Mucopolysaccharidosis, Type Iva Mucopolysaccharidosis, Type Ivb
Mucopolysaccharidosis Type Vi Mucopolysaccharidosis, Type Vii
Mucopolysaccharidosis, Type Ii Mucopolysaccharidosis, Type Ix
Mucopolysaccharidosis Iii Mucopolysaccharidosis Iv
Mucopolysaccharidosis Type 2, Severe Form

Diseases related to Mucopolysaccharidosis-Plus Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 134)
# Related Disease Score Top Affiliating Genes
1 mucopolysaccharidosis, type iva 34.1 ARSH GALNS
2 mucopolysaccharidosis, type ii 33.9 ARSH GALNS IDS
3 mucopolysaccharidosis, type iiia 33.6 ARSH NAGLU SGSH
4 mucopolysaccharidosis iv 33.4 APRT ARSH GALNS
5 mucopolysaccharidosis type vi 33.2 ARSB ARSH GALNS GUSB
6 mucopolysaccharidosis iii 32.8 ARSH GNS NAGLU SGSH
7 morquio syndrome 32.8 APRT GALNS
8 scheie syndrome 32.5 GALNS HEXA IDUA NAGLU
9 mucopolysaccharidosis, type vii 32.0 GALNS GUSB HEXA IDUA SGSH
10 mucopolysaccharidoses 30.7 ARSH GUSB IDUA NAGLU
11 metachromatic leukodystrophy 30.3 ARSB ARSH HEXA
12 multiple sulfatase deficiency 29.6 ARSB ARSH GALNS GNS IDS SGSH
13 fucosidosis 29.3 HEXA NAGLU
14 lysosomal storage disease 26.6 ARSB GALNS GUSB HEXA IDS IDUA
15 mucopolysaccharidosis, type ivb 12.4
16 mucopolysaccharidosis, type iiib 12.4
17 mucopolysaccharidosis, type iiic 12.4
18 mucopolysaccharidosis, type iiid 12.4
19 mucopolysaccharidosis, type ix 12.3
20 hurler syndrome 12.2
21 hurler-scheie syndrome 12.2
22 mucopolysaccharidosis type 2, severe form 12.1
23 mucopolysaccharidosis type 2, attenuated form 12.0
24 mucopolysaccharidosis type 6, slowly progressing 11.8
25 mucopolysaccharidosis type 6, rapidly progressing 11.8
26 osteochondrodysplasia 11.2
27 mccallum macadam johnston syndrome 11.1
28 spondyloepiphyseal dysplasia with congenital joint dislocations 10.8
29 macular dystrophy, corneal 10.8
30 morquio syndrome c 10.8
31 winchester syndrome 10.8
32 natowicz syndrome 10.8
33 arachnoid cysts 10.8
34 type i 10.7
35 kluver-bucy syndrome 10.4 NAGLU SGSH
36 gastric dilatation 10.4 ARSB ARSH
37 mucolipidosis iii alpha/beta 10.3 GALNS GUSB
38 adenine phosphoribosyltransferase deficiency 10.2 APRT GALNS
39 hematopoietic stem cell transplantation 10.2
40 aging 10.1
41 neuronitis 10.1
42 hydrops fetalis, nonimmune, and/or atrial septal defect 10.1
43 fetal edema 10.1
44 hydrops fetalis 10.1
45 mucolipidosis ii alpha/beta 10.0 ARSH GUSB
46 retinitis 10.0
47 carpal tunnel syndrome 10.0
48 mononeuropathy of the median nerve, mild 10.0
49 cervicitis 10.0
50 xanthinuria, type i 9.9 APRT NAGLU

Graphical network of the top 20 diseases related to Mucopolysaccharidosis-Plus Syndrome:



Diseases related to Mucopolysaccharidosis-Plus Syndrome

Symptoms & Phenotypes for Mucopolysaccharidosis-Plus Syndrome

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Neck:
short neck

Head And Neck Mouth:
macroglossia
full lips

AbdomenSpleen:
splenomegaly

Head And Neck Eyes:
optic atrophy
telecanthus
long eyelashes
synophrys
epicanthal folds

Laboratory Abnormalities:
proteinuria
increased plasma heparan sulfate
increased urinary glycosaminoglycan (gag)
electron microscopy of conjunctival biopsy showed abnormal endoplasmic reticulum, abnormal mitochondria, and endocytic vesicles with ballooning and vacuolization (1 patient)

Head And Neck Face:
prominent forehead
coarse facies
large rounded cheeks

Hematology:
anemia
thrombocytopenia
bone marrow hypoplasia (in some patients)
leukocytopenia
lymphocyte granulation

Skeletal Skull:
j-shaped sella turcica

Head And Neck Nose:
broad nasal bridge
broad nose

Skeletal Feet:
foot deformities

Skeletal Hands:
bullet-shaped phalanges
hand contractures
metacarpal pointing

Chest Ribs Sternum Clavicles And Scapulae:
pectus excavatum
pectus carinatum
oar-shaped ribs

Neurologic Central Nervous System:
global developmental delay
brain atrophy (in some patients)
delayed myelination (in some patients)
cerebral calcification (in some patients)

Abdomen Liver:
hepatomegaly
macrovesicular steatosis

Skin Nails Hair Hair:
coarse hair
hirsutism
low hairlines

Skeletal:
dysostosis multiplex
joint contractures

Cardiovascular Heart:
hypertrophic cardiomyopathy
patent ductus arteriosus
congenital heart defects
atrial septal defects

Skeletal Pelvis:
flared iliac wings
acetabular dysplasia
dislocation hips

Genitourinary Kidneys:
tubular atrophy
focal segmental glomerulosclerosis
enlarged kidneys
epithelial cells with foamy and granular cytoplasm

Skin Nails Hair Skin:
thick skin

Respiratory:
respiratory infections, recurrent
respiratory difficulties (in infancy)
acute respiratory distress syndrome

Skeletal Spine:
vertebral dysplasia


Clinical features from OMIM:

617303

Human phenotypes related to Mucopolysaccharidosis-Plus Syndrome:

32 (show all 39)
# Description HPO Frequency HPO Source Accession
1 tubular atrophy 32 HP:0000092
2 proteinuria 32 HP:0000093
3 focal segmental glomerulosclerosis 32 HP:0000097
4 macroglossia 32 HP:0000158
5 coarse facial features 32 HP:0000280
6 epicanthus 32 HP:0000286
7 wide nasal bridge 32 HP:0000431
8 wide nose 32 HP:0000445
9 short neck 32 HP:0000470
10 telecanthus 32 HP:0000506
11 long eyelashes 32 HP:0000527
12 optic atrophy 32 HP:0000648
13 synophrys 32 HP:0000664
14 pectus excavatum 32 HP:0000767
15 pectus carinatum 32 HP:0000768
16 dysostosis multiplex 32 HP:0000943
17 hirsutism 32 HP:0001007
18 global developmental delay 32 HP:0001263
19 flexion contracture 32 HP:0001371
20 macrovesicular hepatic steatosis 32 HP:0001403
21 hypertrophic cardiomyopathy 32 HP:0001639
22 patent ductus arteriosus 32 HP:0001643
23 splenomegaly 32 HP:0001744
24 abnormality of the foot 32 HP:0001760
25 thrombocytopenia 32 HP:0001873
26 anemia 32 HP:0001903
27 respiratory distress 32 HP:0002098
28 recurrent respiratory infections 32 HP:0002205
29 coarse hair 32 HP:0002208
30 hepatomegaly 32 HP:0002240
31 cerebral calcification 32 occasional (7.5%) HP:0002514
32 j-shaped sella turcica 32 HP:0002680
33 flared iliac wings 32 HP:0002869
34 bone marrow hypocellularity 32 occasional (7.5%) HP:0005528
35 acetabular dysplasia 32 HP:0008807
36 prominent forehead 32 HP:0011220
37 brain atrophy 32 occasional (7.5%) HP:0012444
38 delayed myelination 32 occasional (7.5%) HP:0012448
39 thick vermilion border 32 HP:0012471

GenomeRNAi Phenotypes related to Mucopolysaccharidosis-Plus Syndrome according to GeneCards Suite gene sharing:

26 (show all 20)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-11 9.7 ARSB
2 Increased shRNA abundance (Z-score > 2) GR00366-A-110 9.7 ARSB
3 Increased shRNA abundance (Z-score > 2) GR00366-A-115 9.7 IDS
4 Increased shRNA abundance (Z-score > 2) GR00366-A-116 9.7 GALNS
5 Increased shRNA abundance (Z-score > 2) GR00366-A-122 9.7 ARSB
6 Increased shRNA abundance (Z-score > 2) GR00366-A-126 9.7 IDS ARSB
7 Increased shRNA abundance (Z-score > 2) GR00366-A-168 9.7 GALNS
8 Increased shRNA abundance (Z-score > 2) GR00366-A-169 9.7 GALNS
9 Increased shRNA abundance (Z-score > 2) GR00366-A-183 9.7 GALNS
10 Increased shRNA abundance (Z-score > 2) GR00366-A-195 9.7 IDS
11 Increased shRNA abundance (Z-score > 2) GR00366-A-199 9.7 GALNS
12 Increased shRNA abundance (Z-score > 2) GR00366-A-23 9.7 GALNS
13 Increased shRNA abundance (Z-score > 2) GR00366-A-41 9.7 IDS
14 Increased shRNA abundance (Z-score > 2) GR00366-A-42 9.7 ARSB
15 Increased shRNA abundance (Z-score > 2) GR00366-A-43 9.7 ARSB IDS
16 Increased shRNA abundance (Z-score > 2) GR00366-A-46 9.7 IDS
17 Increased shRNA abundance (Z-score > 2) GR00366-A-81 9.7 GALNS
18 Increased shRNA abundance (Z-score > 2) GR00366-A-82 9.7 GALNS
19 Increased shRNA abundance (Z-score > 2) GR00366-A-83 9.7 ARSB GALNS IDS
20 Increased shRNA abundance (Z-score > 2) GR00366-A-9 9.7 IDS

MGI Mouse Phenotypes related to Mucopolysaccharidosis-Plus Syndrome:

46 (show all 12)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.16 APRT ARSB GNS GUSB HEXA IDS
2 cellular MP:0005384 10.1 ARSB GALNS GNS GUSB IDS IDUA
3 growth/size/body region MP:0005378 10.06 APRT ARSB GUSB HEXA IDS IDUA
4 craniofacial MP:0005382 10.02 ARSB GUSB HEXA IDS IDUA NAGLU
5 hematopoietic system MP:0005397 10.01 GNS GUSB IDUA NAGLU SGSH VPS33A
6 integument MP:0010771 9.91 APRT GUSB IDS IDUA NAGLU SGSH
7 hearing/vestibular/ear MP:0005377 9.83 GUSB HEXA IDUA NAGLU ARSB
8 renal/urinary system MP:0005367 9.81 APRT ARSB GALNS GUSB HEXA IDUA
9 limbs/digits/tail MP:0005371 9.72 ARSB GUSB HEXA IDS IDUA
10 liver/biliary system MP:0005370 9.65 HEXA HYAL1 IDUA NAGLU SGSH
11 skeleton MP:0005390 9.61 ARSB GALNS GUSB HEXA HYAL1 IDS
12 vision/eye MP:0005391 9.23 IDUA NAGLU SGSH VPS33A ARSB GALNS

Drugs & Therapeutics for Mucopolysaccharidosis-Plus Syndrome

Search Clinical Trials , NIH Clinical Center for Mucopolysaccharidosis-Plus Syndrome

Cochrane evidence based reviews: mucopolysaccharidoses

Genetic Tests for Mucopolysaccharidosis-Plus Syndrome

Genetic tests related to Mucopolysaccharidosis-Plus Syndrome:

# Genetic test Affiliating Genes
1 Mucopolysaccharidosis 29

Anatomical Context for Mucopolysaccharidosis-Plus Syndrome

MalaCards organs/tissues related to Mucopolysaccharidosis-Plus Syndrome:

41
Bone, Skin, Heart, Brain, Bone Marrow, Kidney

Publications for Mucopolysaccharidosis-Plus Syndrome

Variations for Mucopolysaccharidosis-Plus Syndrome

UniProtKB/Swiss-Prot genetic disease variations for Mucopolysaccharidosis-Plus Syndrome:

75
# Symbol AA change Variation ID SNP ID
1 VPS33A p.Arg498Trp VAR_078032 rs767748011

ClinVar genetic disease variations for Mucopolysaccharidosis-Plus Syndrome:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 VPS33A NM_022916.5(VPS33A): c.1492C> T (p.Arg498Trp) single nucleotide variant Pathogenic rs767748011 GRCh37 Chromosome 12, 122717464: 122717464
2 VPS33A NM_022916.5(VPS33A): c.1492C> T (p.Arg498Trp) single nucleotide variant Pathogenic rs767748011 GRCh38 Chromosome 12, 122232917: 122232917

Expression for Mucopolysaccharidosis-Plus Syndrome

Search GEO for disease gene expression data for Mucopolysaccharidosis-Plus Syndrome.

Pathways for Mucopolysaccharidosis-Plus Syndrome

Pathways related to Mucopolysaccharidosis-Plus Syndrome according to KEGG:

37
# Name Kegg Source Accession
1 Glycosaminoglycan degradation hsa00531
2 Lysosome hsa04142

Pathways related to Mucopolysaccharidosis-Plus Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.73 APRT ARSB ARSH GALNS GNS GUSB
2
Show member pathways
12.66 ARSB GNS GUSB HEXA HYAL1 IDS
3
Show member pathways
12.27 ARSB GUSB HEXA HYAL1 IDS IDUA
4
Show member pathways
11.95 ARSB ARSH HEXA
5 11.41 ARSB GALNS GNS GUSB HEXA HYAL1
6
Show member pathways
10.96 ARSB GALNS GNS GUSB HEXA HYAL1

GO Terms for Mucopolysaccharidosis-Plus Syndrome

Cellular components related to Mucopolysaccharidosis-Plus Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.85 APRT ARSB GALNS GNS GUSB HEXA
2 lysosome GO:0005764 9.7 ARSB GALNS GNS GUSB HEXA HYAL1
3 azurophil granule lumen GO:0035578 9.56 ARSB GALNS GNS GUSB
4 ficolin-1-rich granule lumen GO:1904813 9.5 ARSB GNS GUSB
5 lysosomal lumen GO:0043202 9.32 ARSB GALNS GNS GUSB HEXA HYAL1

Biological processes related to Mucopolysaccharidosis-Plus Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 neutrophil degranulation GO:0043312 9.8 APRT ARSB GALNS GNS GUSB
2 carbohydrate metabolic process GO:0005975 9.73 GUSB HEXA HYAL1 IDUA
3 chondroitin sulfate catabolic process GO:0030207 9.55 ARSB HEXA HYAL1 IDS IDUA
4 glycosphingolipid metabolic process GO:0006687 9.54 ARSB ARSH HEXA
5 hyaluronan catabolic process GO:0030214 9.5 GUSB HEXA HYAL1
6 lysosome organization GO:0007040 9.46 ARSB NAGLU
7 keratan sulfate catabolic process GO:0042340 9.43 GALNS GNS HEXA
8 glycosaminoglycan catabolic process GO:0006027 9.43 GNS GUSB IDS IDUA NAGLU SGSH
9 metabolic process GO:0008152 9.36 ARSB ARSH GALNS GNS GUSB HEXA

Molecular functions related to Mucopolysaccharidosis-Plus Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 hydrolase activity GO:0016787 9.7 ARSB ARSH GALNS GNS GUSB HEXA
2 hydrolase activity, acting on glycosyl bonds GO:0016798 9.55 GUSB HEXA HYAL1 IDUA NAGLU
3 hydrolase activity, hydrolyzing O-glycosyl compounds GO:0004553 9.37 GUSB IDUA
4 arylsulfatase activity GO:0004065 9.32 ARSB ARSH
5 N-acetylgalactosamine-4-sulfatase activity GO:0003943 9.26 ARSB GALNS
6 sulfuric ester hydrolase activity GO:0008484 9.1 ARSB ARSH GALNS GNS IDS SGSH

Sources for Mucopolysaccharidosis-Plus Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
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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