MLIIIA
MCID: MCL046
MIFTS: 55

Mucolipidosis Iii Alpha/beta (MLIIIA)

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

Aliases & Classifications for Mucolipidosis Iii Alpha/beta

MalaCards integrated aliases for Mucolipidosis Iii Alpha/beta:

Name: Mucolipidosis Iii Alpha/beta 56 52 25 13 6
Pseudo-Hurler Polydystrophy 56 12 52 25 29 6 15 71
Mucolipidosis Iii 56 12 25 36 54
Mucolipidosis Iiia 56 25
Ml Iii Alpha/beta 56 58
Ml Iiia 56 25
Ml Iii 56 25
Mucolipidosis Type Iii Complementation Group a 73
Cariant Pseudo-Hurler Polydystrophy 73
Mucolipidosis, Type Iii, Alpha/beta 39
Mucolipidosis, Type Iii Alpha/beta 6
Mucolipidosis Type Iii Alpha/beta 58
Mucolipidosis Type 3 Alpha/beta 58
Mucolipidosis Iiia; Ml Iiia 56
Mucolipidosis Iii, Variant 25
Mucolipidosis Type 3a 52
Mucolipidosis Type 3 74
Ml 3 Alpha/beta 58
Ml 3 a 52
Mliiia 73
Ml3 52

Characteristics:

Orphanet epidemiological data:

58
mucolipidosis type iii alpha/beta
Inheritance: Autosomal recessive; Prevalence: 1-5/10000 (Worldwide);

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
symptoms noted at 2-3 years
allelic to mucolipidosis ii


HPO:

31
mucolipidosis iii alpha/beta:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare bone diseases
Inborn errors of metabolism
Developmental anomalies during embryogenesis


Summaries for Mucolipidosis Iii Alpha/beta

Genetics Home Reference : 25 Mucolipidosis III alpha/beta is a disorder that affects many parts of the body. Signs and symptoms of this condition typically appear around age 3 and worsen slowly over time. Individuals with mucolipidosis III alpha/beta grow slowly and have short stature. They also have stiff joints and dysostosis multiplex, which refers to multiple skeletal abnormalities seen on x-ray. Many affected individuals develop low bone mineral density (osteoporosis), which weakens the bones and makes them prone to fracture. Osteoporosis and progressive joint problems also cause bone pain that becomes more severe over time in people with mucolipidosis III alpha/beta. People with mucolipidosis III alpha/beta often have heart valve abnormalities and mild clouding of the clear covering of the eye (cornea). Their facial features become slightly thickened or "coarse" over time. Affected individuals may also develop frequent ear and respiratory infections. About half of people with this condition have mild intellectual disability or learning problems. Individuals with mucolipidosis III alpha/beta generally survive into adulthood, but they may have a shortened lifespan.

MalaCards based summary : Mucolipidosis Iii Alpha/beta, also known as pseudo-hurler polydystrophy, is related to mucopolysaccharidosis-plus syndrome and mucolipidosis ii alpha/beta, and has symptoms including stiff shoulders and thick skin. An important gene associated with Mucolipidosis Iii Alpha/beta is GNPTAB (N-Acetylglucosamine-1-Phosphate Transferase Subunits Alpha And Beta), and among its related pathways/superpathways are Lysosome and Other glycan degradation. The drugs Mechlorethamine and Ifosfamide have been mentioned in the context of this disorder. Affiliated tissues include bone, skin and heart, and related phenotypes are intellectual disability and scoliosis

NIH Rare Diseases : 52 Mucolipidosis III (ML III) is a rare and progressive metabolic disorder that involves our body's ability to break down certain fats (mucolipids ). Symptoms typically present around age 3 and include developmental delay , joint pain, thickened skin, heart valve abnormalities, and intellectual disabilities or learning problems. Many individuals with ML III develop low bone density (osteoporosis ), which causes pain and may lead to bone fractures. Heart deformities and repeated respiratory infections can reduce the individual's ability to breathe effectively and may result in death during mid-adulthood. ML III is caused by mutation in the GNPT AB gene , and is inherited in an autosomal recessive manner. Mucolipidosis III is diagnosed by testing the blood or urine for high levels of mucolipids, and the diagnosis can be confirmed by genetic testing . Treatment is focused on relieving the individual symptoms of each person.

OMIM : 56 Mucolipidosis type III alpha/beta is an autosomal recessive disorder characterized clinically by short stature, skeletal abnormalities, cardiomegaly, and developmental delay. The disorder is caused by a defect in proper lysosomal enzyme phosphorylation and localization, which results in accumulation of lysosomal substrates. It is phenotypically less severe than the allelic disorder mucolipidosis type II alpha/beta (summary by Paik et al., 2005). (252600)

KEGG : 36 Mucolipidosis type III (MLIII), or pseudo-Hurler polydystrophy, is an autosomal recessive disorder affecting lysosomal hydrolase trafficking. The clinical phenotype is variable, and some MLIII patients survive to adulthood. MLIII is caused by the deficiency of GlcNac-1-phosphotransferase, that is exists as a heterohexamer comprising three subunits, alpha, beta, and gamma. It is encoded by two distinct genes, GNPTAB and GNPTAG.

UniProtKB/Swiss-Prot : 73 Mucolipidosis type III complementation group A: Autosomal recessive disease of lysosomal enzyme targeting. Clinically MLIII is characterized by restricted joint mobility, skeletal dysplasia, and short stature. Mildly coarsened facial features and thickening of the skin have been described. Cardiac valvular disease and corneal clouding may also occur. Half of the reported patients show learning disabilities or mental retardation.

Wikipedia : 74 Pseudo-Hurler polydystrophy, also referred to as mucolipidosis III (ML III), is a lysosomal storage... more...

Related Diseases for Mucolipidosis Iii Alpha/beta

Diseases in the Mucolipidosis family:

Mucolipidosis Ii Alpha/beta Mucolipidosis Iii Alpha/beta
Mucolipidosis Iii Gamma Mucolipidosis Iv

Diseases related to Mucolipidosis Iii Alpha/beta via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 70)
# Related Disease Score Top Affiliating Genes
1 mucopolysaccharidosis-plus syndrome 29.5 M6PR IGF2R GUSB GNPTAB BSG
2 mucolipidosis ii alpha/beta 29.2 M6PR IGF2R GUSB GNPTG GNPTAB FUCA1
3 lysosomal storage disease 28.4 MCOLN1 M6PR IGF2R GUSB FUCA1 CTSD
4 mucolipidosis 27.9 NAGPA MCOLN1 MBTPS1 M6PR IGF2R GNPTG
5 mucolipidoses 11.7
6 niemann-pick disease 10.4
7 tarsal tunnel syndrome 10.4 GNPTG GNPTAB
8 tibial neuropathy 10.3 GNPTG GNPTAB
9 simple partial epilepsy 10.3 IGF2R BSG
10 dysphagia 10.3
11 swallowing disorders 10.3
12 carpal tunnel syndrome 10.2
13 autosomal recessive disease 10.2
14 cerebral lipidosis 10.2 M6PR IGF2R
15 mucopolysaccharidosis, type iiia 10.2 M6PR GNPTAB
16 articulation disorder 10.1 NAGPA GNPTG GNPTAB
17 atrial standstill 1 10.1
18 otitis media 10.1
19 mucolipidosis iii gamma 10.1
20 umbilical hernia 10.1
21 microcephaly 10.1
22 dilated cardiomyopathy 10.1
23 dysostosis 10.1
24 mutism 10.1
25 hypertrophic cardiomyopathy 10.1
26 pectus carinatum 10.1
27 tremor 10.1
28 lysosomal storage disease with skeletal involvement 10.1
29 speech disorder 10.1 NAGPA GNPTG GNPTAB
30 mannosidosis, alpha b, lysosomal 10.1 IGF2R GUSB
31 stuttering 10.1 NAGPA GNPTG GNPTAB
32 mucopolysaccharidosis iv 10.1 M6PR IGF2R
33 laryngotracheitis 10.1 FUCA2 FUCA1
34 lysosomal and lipase deficiency 10.1 M6PR IGF2R
35 astigmatism 10.1
36 avascular necrosis 10.1
37 skin hemangioma 10.1 FUCA2 FUCA1
38 gnptab-related disorders 10.1
39 angiokeratoma 10.0 FUCA2 FUCA1
40 mucopolysaccharidosis, type ii 10.0 M6PR IGF2R BSG
41 lysosomal acid lipase deficiency 10.0 M6PR IGF2R
42 pain sensitivity quantitative trait locus 1 9.9
43 scoliosis 9.9
44 polycystic kidney disease 9.9
45 tuberous sclerosis 9.9
46 bardet-biedl syndrome 9.9
47 retinal vascular disease 9.9
48 sensory peripheral neuropathy 9.9
49 systemic scleroderma 9.9
50 kidney disease 9.9

Graphical network of the top 20 diseases related to Mucolipidosis Iii Alpha/beta:



Diseases related to Mucolipidosis Iii Alpha/beta

Symptoms & Phenotypes for Mucolipidosis Iii Alpha/beta

Human phenotypes related to Mucolipidosis Iii Alpha/beta:

31 (show all 27)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 HP:0001249
2 scoliosis 31 HP:0002650
3 coarse facial features 31 HP:0000280
4 mandibular prognathia 31 HP:0000303
5 retinal degeneration 31 HP:0000546
6 short stature 31 HP:0004322
7 craniosynostosis 31 HP:0001363
8 retinopathy 31 HP:0000488
9 dysostosis multiplex 31 HP:0000943
10 broad ribs 31 HP:0000885
11 opacification of the corneal stroma 31 HP:0007759
12 carpal bone hypoplasia 31 HP:0001498
13 short long bone 31 HP:0003026
14 thickened skin 31 HP:0001072
15 specific learning disability 31 HP:0001328
16 constrictive median neuropathy 31 HP:0012185
17 split hand 31 HP:0001171
18 aortic regurgitation 31 HP:0001659
19 short ribs 31 HP:0000773
20 j-shaped sella turcica 31 HP:0002680
21 shallow acetabular fossae 31 HP:0003182
22 increased serum iduronate sulfatase activity 31 HP:0003538
23 irregular carpal bones 31 HP:0004236
24 hyperopic astigmatism 31 HP:0000484
25 deficiency of n-acetylglucosamine-1-phosphotransferase 31 HP:0003264
26 increased serum beta-hexosaminidase 31 HP:0003333
27 soft tissue swelling of interphalangeal joints 31 HP:0006162

Symptoms via clinical synopsis from OMIM:

56
Skeletal Spine:
scoliosis
absence of dens
vertebral beaking

Skeletal:
dysostosis multiplex

Skeletal Pelvis:
shallow acetabular fossae
flaring of iliac wings

Laboratory Abnormalities:
deficiency of n-acetylglucosamine-1-phosphotransferase
no mucopolysacchariduria
increased serum beta-hexosaminidase (10-20x)
increased serum iduronate sulfatase (10-20x)
increased serum aryl-sulfatase a (10-20x)

Neurologic Central Nervous System:
mental retardation
learning disabilities

Skeletal Limbs:
short long bones
shoulder stiffness
broad metaphyses

Chest Ribs Sternum Clavicles And Scapulae:
short, thick clavicles
wide, slightly short ribs

Growth Height:
short stature

Skeletal Skull:
j-shaped sella turcica
mandibular prognathism
premature closure of cranial sutures

Head And Neck Eyes:
hyperopic astigmatism
corneal clouding
mild retinopathy

Skeletal Hands:
soft tissue swelling of interphalangeal joints
carpal tunnel syndrome
claw-hand deformities
hand stiffness
small, irregular carpal bones

Cardiovascular Heart:
aortic insufficiency

Head And Neck Face:
mildly coarse facies

Skin Nails Hair Skin:
skin thickening

Clinical features from OMIM:

252600

UMLS symptoms related to Mucolipidosis Iii Alpha/beta:


stiff shoulders, thick skin

MGI Mouse Phenotypes related to Mucolipidosis Iii Alpha/beta:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.81 BSG CTSD FUCA1 GNPTAB GUSB IGF2R
2 growth/size/body region MP:0005378 9.65 BSG CTSD FUCA1 GNPTAB GUSB IGF2R
3 renal/urinary system MP:0005367 9.1 FUCA1 GNPTAB GUSB IGF2R M6PR MCOLN1

Drugs & Therapeutics for Mucolipidosis Iii Alpha/beta

Drugs for Mucolipidosis Iii Alpha/beta (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 15)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Mechlorethamine Approved, Investigational Phase 2 51-75-2 4033
2
Ifosfamide Approved Phase 2 3778-73-2 3690
3
Etoposide Approved Phase 2 33419-42-0 36462
4
Cyclophosphamide Approved, Investigational Phase 2 50-18-0, 6055-19-2 2907
5
Carboplatin Approved Phase 2 41575-94-4 10339178 498142 38904
6
Iron Approved, Experimental Phase 2 7439-89-6, 15438-31-0 23925 27284
7
Deferasirox Approved, Investigational Phase 2 201530-41-8 5493381
8 Alkylating Agents Phase 2
9
Isophosphamide mustard Phase 2 0
10 Topoisomerase Inhibitors Phase 2
11 Podophyllotoxin Phase 2 518-28-5
12 Etoposide phosphate Phase 2
13 Chelating Agents Phase 2
14 Iron Chelating Agents Phase 2
15 polysaccharide-K

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Phase 2 Trial of Response-Based Radiation Therapy for Patients With Localized Central Nervous System Germ Cell Tumors (CNS GCT) Active, not recruiting NCT01602666 Phase 2 Carboplatin;Etoposide;Ifosfamide
2 Deferasirox Treatment and Labile Plasma Iron in Iron Overloaded Patients Who Have Undergone Allogeneic Hematopoietic Stem Cell Transplantation Terminated NCT01159067 Phase 2 deferasirox
3 Tumor Site Specific Phase I Evaluation of Safety of Hepatic Arterial Infusion of a Matrix-Targeted Retroviral Vector Bearing a Dominant Negative Cyclin G1 Construct as Intervention for Colorectal Carcinoma Metastatic to Liver Withdrawn NCT00035919 Phase 1, Phase 2
4 Longitudinal Studies of the Glycoproteinoses Unknown status NCT01891422
5 Microparticles in Stored Red Blood Cells (RBC) as Potential Mediators of Transfusion Complications (II): Clinical Study Completed NCT01185600
6 Biomarker for Mucolipidosis Disorder Type I, II, III, IV AN INTERNATIONAL, MULTICENTER, EPIDEMIOLOGICAL PROTOCOL Recruiting NCT02298673

Search NIH Clinical Center for Mucolipidosis Iii Alpha/beta

Genetic Tests for Mucolipidosis Iii Alpha/beta

Genetic tests related to Mucolipidosis Iii Alpha/beta:

# Genetic test Affiliating Genes
1 Pseudo-Hurler Polydystrophy 29 GNPTAB

Anatomical Context for Mucolipidosis Iii Alpha/beta

MalaCards organs/tissues related to Mucolipidosis Iii Alpha/beta:

40
Bone, Skin, Heart, Eye, Testes, Kidney, Liver

Publications for Mucolipidosis Iii Alpha/beta

Articles related to Mucolipidosis Iii Alpha/beta:

(show top 50) (show all 84)
# Title Authors PMID Year
1
Molecular analysis of the GNPTAB and GNPTG genes in 13 patients with mucolipidosis type II or type III - identification of eight novel mutations. 54 56 6
19659762 2009
2
Missense mutations in N-acetylglucosamine-1-phosphotransferase alpha/beta subunit gene in a patient with mucolipidosis III and a mild clinical phenotype. 61 56 6
16094673 2005
3
Mucolipidosis II and III alpha/beta: mutation analysis of 40 Japanese patients showed genotype-phenotype correlation. 56 6
19197337 2009
4
Identification of mutations in the GNPTA (MGC4170) gene coding for GlcNAc-phosphotransferase alpha/beta subunits in Korean patients with mucolipidosis type II or type IIIA. 56 6
16116615 2005
5
A splicing mutation in the alpha/beta GlcNAc-1-phosphotransferase gene results in an adult onset form of mucolipidosis III associated with sensory neuropathy and cardiomyopathy. 56 6
15633164 2005
6
Mucolipidosis II (I-cell disease) and mucolipidosis IIIA (classical pseudo-hurler polydystrophy) are caused by mutations in the GlcNAc-phosphotransferase alpha / beta -subunits precursor gene. 54 61 6
16465621 2006
7
Mucolipidosis III Alpha/Beta 61 6
20301730 2008
8
When Mucolipidosis III meets Mucolipidosis II: GNPTA gene mutations in 24 patients. 54 56
16630736 2006
9
Clinical variability in mucolipidosis III (pseudo-Hurler polydystrophy). 61 56
11891688 2002
10
Connective tissue naevus with pseudo-Hurler polydystrophy. 61 56
8186124 1994
11
A mild form of mucolipidosis type III in four Baluch siblings. 61 56
8131303 1993
12
Ophthalmologic findings in mucolipidosis III (pseudo-Hurler polydystrophy). 61 56
3777077 1986
13
Mucolipidosis II and III. The genetic relationships between two disorders of lysosomal enzyme biosynthesis. 61 56
6309902 1983
14
Mucolipidosis III is genetically heterogeneous. 61 56
6961420 1982
15
Identification of a variant of mucolipidosis III (pseudo-Hurler polydystrophy): a catalytically active N-acetylglucosaminylphosphotransferase that fails to phosphorylate lysosomal enzymes. 61 56
6461005 1981
16
Mucolipidosis III (pseudo-Hurler polydystrophy): Clinical and laboratory studies in a series of 12 patients. 61 56
810612 1975
17
Acid hydrolase deficiencies and abnormal glycoproteins in mucolipidosis. 3 (pseudo-Hurler polydystrophy). 61 56
4208016 1974
18
Origin and spread of a common deletion causing mucolipidosis type II: insights from patterns of haplotypic diversity. 6
20880125 2011
19
GNPTAB-Related Disorders 6
20301728 2008
20
Mucolipidosis II: a single causal mutation in the N-acetylglucosamine-1-phosphotransferase gene (GNPTAB) in a French Canadian founder population. 6
18190596 2008
21
Molecular order in mucolipidosis II and III nomenclature. 56
18203164 2008
22
The osteodystrophy of mucolipidosis type III and the effects of intravenous pamidronate treatment. 56
12705498 2002
23
Mucolipidosis III presenting as a rheumatological disorder. 56
8441145 1993
24
An atypical form of mucolipidosis III. 56
1453439 1992
25
Heterogeneity of N-acetylglucosamine 1-phosphotransferase within mucolipidosis III. 56
3001079 1986
26
Homozygosity for the variant alpha-L-fucosidase trait and mucolipidosis III. 56
3997153 1985
27
Structure of nine sialyl-oligosaccharides accumulated in urine of eleven patients with three different types of sialidosis. Mucolipidosis II and two new types of mucolipidosis. 56
885137 1977
28
Mucolipidosis III: two patients displaying genetic pleiotropism. 56
850847 1977
29
The Hurler syndrome without abnormal mucopolysacchariduria. 56
4230591 1968
30
[Hurler's pseudo-polydystrophy]. 56
4958870 1966
31
The genetic mucopolysaccharidoses. 56
4221470 1965
32
Loss of N-acetylglucosamine-1-phosphotransferase gamma subunit due to intronic mutation in GNPTG causes mucolipidosis type III gamma: Implications for molecular and cellular diagnostics. 54 61
20034096 2010
33
Phosphorylation and subcellular location of alpha-L-fucosidase in lymphoid cells from patients with I-cell disease and pseudo-Hurler polydystrophy. 54 61
8286862 1993
34
Biosynthesis, processing, and secretion of alpha-L-fucosidase in lymphoid cells from patients with I-cell disease and pseudo-Hurler polydystrophy. 54 61
1822239 1991
35
Rare Association of Mucolipidosis III alpha/beta with Dilated Cardiomyopathy. 61
30610051 2018
36
GNPTAB c.2404C > T nonsense mutation in a patient with mucolipidosis III alpha/beta: a case report. 61
30208878 2018
37
Mucolipidosis Type III: A Rare Disease in Differential Diagnosis of Joint Stiffness in Pediatric Rheumatology. 61
29900995 2018
38
Neurologic abnormalities in mouse models of the lysosomal storage disorders mucolipidosis II and mucolipidosis III γ. 61
25314316 2014
39
An adult patient with mucolipidosis III alpha/beta presenting with parkinsonism. 61
22906612 2013
40
Enlarged follicles and temporomandibular joint abnormalities in mucolipidosis Type III. 61
22241869 2013
41
Identification and molecular characterization of six novel mutations in the UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTG) gene in patients with mucolipidosis III gamma. 54
19370764 2009
42
Missense mutation in the N-acetylglucosamine-1-phosphotransferase gene (GNPTA) in a patient with mucolipidosis II induces changes in the size and cellular distribution of GNPTG. 61
16835905 2006
43
A novel mutation in UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTAG) in two siblings with mucolipidosis type III alters a used glycosylation site. 54
15532026 2004
44
A mucolipidosis III patient presenting characteristic sonographic and magnetic resonance imaging findings of claw hand deformity. 61
15361946 2004
45
Genomic organisation of the UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTAG) and its mutations in mucolipidosis III. 54
15060128 2004
46
Biochemical characteristics of a Korean patient with mucolipidosis III (pseudo-Hurler polydystrophy). 61
14555827 2003
47
Ophthalmological findings in a patient with mucolipidosis III (pseudo-hurler polydystrophy). A case report. 61
12564313 2002
48
Molecular basis of variant pseudo-hurler polydystrophy (mucolipidosis IIIC) 61
10712439 2000
49
[I-cell disease and pseudo-Hurler polydystrophy]. 61
11031999 2000
50
Mucolipidosis III (pseudo-Hurler polydystrophy); clinical studies in aged patients in one family. 61
9077513 1997

Variations for Mucolipidosis Iii Alpha/beta

ClinVar genetic disease variations for Mucolipidosis Iii Alpha/beta:

6 (show top 50) (show all 193) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 GNPTAB NM_024312.5(GNPTAB):c.153_156TTTG[1] (p.Phe53fs)short repeat Pathogenic 195376 rs794727302 12:102190498-102190501 12:101796720-101796723
2 GNPTAB NM_024312.5(GNPTAB):c.771G>A (p.Leu257=)SNV Pathogenic 2761 rs281865025 12:102173930-102173930 12:101780152-101780152
3 GNPTAB NM_024312.5(GNPTAB):c.1220A>C (p.Asp407Ala)SNV Pathogenic 2762 rs137852895 12:102163863-102163863 12:101770085-101770085
4 GNPTAB NM_024312.5(GNPTAB):c.3565C>T (p.Arg1189Ter)SNV Pathogenic 2764 rs137852897 12:102147187-102147187 12:101753409-101753409
5 GNPTAB NM_024312.5(GNPTAB):c.2715+1G>ASNV Pathogenic 2768 rs281865031 12:102157979-102157979 12:101764201-101764201
6 GNPTAB NM_024312.5(GNPTAB):c.2572_2573GA[1] (p.Asn859fs)short repeat Pathogenic 2769 rs281865029 12:102158120-102158121 12:101764342-101764343
7 GNPTAB NM_024312.5(GNPTAB):c.3501_3502TC[1] (p.Leu1168fs)short repeat Pathogenic 2771 rs34002892 12:102147248-102147249 12:101753470-101753471
8 GNPTAB NM_024312.5(GNPTAB):c.3335+6T>GSNV Pathogenic 2773 rs34788341 12:102151344-102151344 12:101757566-101757566
9 GNPTAB NM_024312.5(GNPTAB):c.1120T>C (p.Phe374Leu)SNV Pathogenic 2775 rs137852900 12:102163963-102163963 12:101770185-101770185
10 GNPTAB NM_024312.5(GNPTAB):c.1196C>T (p.Ser399Phe)SNV Pathogenic 38413 rs281865026 12:102163887-102163887 12:101770109-101770109
11 GNPTAB NM_024312.5(GNPTAB):c.1581del (p.Cys528fs)deletion Pathogenic 38414 rs36007394 12:102159900-102159900 12:101766122-101766122
12 GNPTAB NM_024312.5(GNPTAB):c.1985C>G (p.Ala662Gly)SNV Pathogenic 38416 rs142172397 12:102158710-102158710 12:101764932-101764932
13 GNPTAB NM_024312.5(GNPTAB):c.3613C>T (p.Arg1205Ter)SNV Pathogenic 38429 rs35333334 12:102142959-102142959 12:101749181-101749181
14 GNPTAB NM_024312.5(GNPTAB):c.612_615ACAG[1] (p.Thr206fs)short repeat Pathogenic 38432 rs281865024 12:102174352-102174355 12:101780574-101780577
15 GNPTAB NM_024312.5(GNPTAB):c.1090C>T (p.Arg364Ter)SNV Pathogenic 39021 rs200646278 12:102164207-102164207 12:101770429-101770429
16 GNPTAB NM_024312.5(GNPTAB):c.1123C>T (p.Arg375Ter)SNV Pathogenic 39022 rs397507447 12:102163960-102163960 12:101770182-101770182
17 GNPTAB NM_024312.5(GNPTAB):c.1208T>C (p.Ile403Thr)SNV Pathogenic 39026 rs281864973 12:102163875-102163875 12:101770097-101770097
18 GNPTAB NM_024312.5(GNPTAB):c.1285-2A>GSNV Pathogenic 39028 rs281864974 12:102161940-102161940 12:101768162-101768162
19 GNPTAB NM_024312.5(GNPTAB):c.1325G>A (p.Cys442Tyr)SNV Pathogenic 39029 rs281864975 12:102161898-102161898 12:101768120-101768120
20 GNPTAB NM_024312.5(GNPTAB):c.136C>T (p.Arg46Ter)SNV Pathogenic 39031 rs78347057 12:102190522-102190522 12:101796744-101796744
21 GNPTAB NM_024312.5(GNPTAB):c.1385dup (p.Asp462fs)duplication Pathogenic 39033 rs281864978 12:102161837-102161838 12:101768059-101768060
22 GNPTAB NM_024312.5(GNPTAB):c.1399del (p.Asp467fs)deletion Pathogenic 39034 rs397507448 12:102161824-102161824 12:101768046-101768046
23 GNPTAB NM_024312.5(GNPTAB):c.168T>A (p.Tyr56Ter)SNV Pathogenic 39038 rs281864950 12:102190490-102190490 12:101796712-101796712
24 GNPTAB NM_024312.5(GNPTAB):c.1759C>T (p.Arg587Ter)SNV Pathogenic 39040 rs281864982 12:102158936-102158936 12:101765158-101765158
25 GNPTAB NM_024312.5(GNPTAB):c.1955_1958TAGT[1] (p.Ser654fs)short repeat Pathogenic 39041 rs281864983 12:102158733-102158736 12:101764955-101764958
26 GNPTAB NM_024312.5(GNPTAB):c.1001G>A (p.Arg334Gln)SNV Pathogenic 39018 rs281864970 12:102164296-102164296 12:101770518-101770518
27 GNPTAB NM_024312.5(GNPTAB):c.229_231GTT[1] (p.Val78del)short repeat Pathogenic 39050 rs281864952 12:102183805-102183807 12:101790027-101790029
28 GNPTAB NM_024312.5(GNPTAB):c.242G>T (p.Trp81Leu)SNV Pathogenic 39053 rs281864953 12:102183797-102183797 12:101790019-101790019
29 GNPTAB NM_024312.5(GNPTAB):c.2777A>C (p.Gln926Pro)SNV Pathogenic 39060 rs281865002 12:102155480-102155480 12:101761702-101761702
30 GNPTAB NM_024312.5(GNPTAB):c.2866C>T (p.His956Tyr)SNV Pathogenic 39061 rs281865004 12:102155391-102155391 12:101761613-101761613
31 GNPTAB NM_024312.5(GNPTAB):c.2867A>G (p.His956Arg)SNV Pathogenic 39062 rs281865005 12:102155390-102155390 12:101761612-101761612
32 GNPTAB NM_024312.5(GNPTAB):c.3091C>T (p.Arg1031Ter)SNV Pathogenic 39065 rs281865009 12:102154949-102154949 12:101761171-101761171
33 GNPTAB NM_024312.5(GNPTAB):c.571+3A>CSNV Pathogenic 39083 rs281864960 12:102179787-102179787 12:101786009-101786009
34 GNPTAB NM_024312.5(GNPTAB):c.3410T>A (p.Leu1137Ter)SNV Pathogenic 39071 rs142065232 12:102151014-102151014 12:101757236-101757236
35 GNPTAB NM_024312.5(GNPTAB):c.342_343CA[1] (p.Thr115fs)short repeat Pathogenic 39073 rs281864954 12:102182346-102182347 12:101788568-101788569
36 GNPTAB NM_024312.5(GNPTAB):c.3439_3442TTTG[1] (p.Val1148fs)short repeat Pathogenic 39074 rs281865018 12:102147306-102147309 12:101753528-101753531
37 GNPTAB NM_024312.5(GNPTAB):c.3458A>G (p.Asn1153Ser)SNV Pathogenic 39075 rs281865019 12:102147294-102147294 12:101753516-101753516
38 GNPTAB NM_024312.5(GNPTAB):c.3741_3744del (p.Glu1248fs)deletion Pathogenic 39078 rs281865022 12:102140969-102140972 12:101747191-101747194
39 GNPTAB NM_024312.5(GNPTAB):c.44C>A (p.Ser15Tyr)SNV Pathogenic 39081 rs281864947 12:102224410-102224410 12:101830632-101830632
40 GNPTAB NM_024312.5(GNPTAB):c.517_518insA (p.Pro173fs)insertion Pathogenic 39082 rs281864957 12:102179843-102179844 12:101786065-101786066
41 GNPTAB NM_024312.5(GNPTAB):c.2354T>G (p.Leu785Trp)SNV Pathogenic 100738 rs144060383 12:102158341-102158341 12:101764563-101764563
42 GNPTAB NM_024312.5(GNPTAB):c.2455del (p.Glu819fs)deletion Pathogenic 642316 12:102158240-102158240 12:101764462-101764462
43 GNPTAB NM_024312.5(GNPTAB):c.22A>G (p.Arg8Gly)SNV Pathogenic 684627 12:102224432-102224432 12:101830654-101830654
44 GNPTAB NM_024312.5(GNPTAB):c.2693del (p.Lys898fs)deletion Pathogenic/Likely pathogenic 39058 rs281864999 12:102158002-102158002 12:101764224-101764224
45 GNPTAB NM_024312.5(GNPTAB):c.2715+2T>GSNV Pathogenic/Likely pathogenic 39059 rs281865001 12:102157978-102157978 12:101764200-101764200
46 GNPTAB NM_024312.5(GNPTAB):c.1000C>T (p.Arg334Ter)SNV Pathogenic/Likely pathogenic 39017 rs281864969 12:102164297-102164297 12:101770519-101770519
47 GNPTAB NM_024312.5(GNPTAB):c.1906dup (p.Arg636fs)duplication Pathogenic/Likely pathogenic 194265 rs747789493 12:102158788-102158789 12:101765010-101765011
48 GNPTAB NM_024312.5(GNPTAB):c.99del (p.Ala34fs)deletion Pathogenic/Likely pathogenic 496456 rs1408113895 12:102224355-102224355 12:101830577-101830577
49 GNPTAB NM_024312.5(GNPTAB):c.1959_1960del (p.Pro655fs)deletion Pathogenic/Likely pathogenic 520752 rs1429181351 12:102158735-102158736 12:101764957-101764958
50 GNPTAB NM_024312.5(GNPTAB):c.3575T>C (p.Phe1192Ser)SNV Likely pathogenic 397573 rs1060499688 12:102147177-102147177 12:101753399-101753399

UniProtKB/Swiss-Prot genetic disease variations for Mucolipidosis Iii Alpha/beta:

73 (show all 16)
# Symbol AA change Variation ID SNP ID
1 GNPTAB p.Asp407Ala VAR_025416 rs137852895
2 GNPTAB p.Lys4Gln VAR_027509 rs34159654
3 GNPTAB p.Phe374Leu VAR_062807 rs137852900
4 GNPTAB p.Ser399Phe VAR_062808 rs281865026
5 GNPTAB p.Ile403Thr VAR_062809 rs281864973
6 GNPTAB p.Cys442Tyr VAR_062810 rs281864975
7 GNPTAB p.Cys461Gly VAR_062811 rs281864977
8 GNPTAB p.Gln926Pro VAR_062812 rs281865002
9 GNPTAB p.His956Tyr VAR_062813 rs281865004
10 GNPTAB p.Asn1153Ser VAR_062815 rs281865019
11 GNPTAB p.Trp81Leu VAR_070831 rs281864953
12 GNPTAB p.Arg334Gln VAR_073128 rs281864970
13 GNPTAB p.Cys468Ser VAR_073129 rs281864979
14 GNPTAB p.Arg587Pro VAR_073131
15 GNPTAB p.Gly575Arg VAR_074206
16 GNPTAB p.Thr644Met VAR_074207 rs386765812

Expression for Mucolipidosis Iii Alpha/beta

Search GEO for disease gene expression data for Mucolipidosis Iii Alpha/beta.

Pathways for Mucolipidosis Iii Alpha/beta

Pathways related to Mucolipidosis Iii Alpha/beta according to KEGG:

36
# Name Kegg Source Accession
1 Lysosome hsa04142

Pathways related to Mucolipidosis Iii Alpha/beta according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.37 NAGPA MCOLN1 M6PR IGF2R GUSB GNPTG
2 10.21 FUCA2 FUCA1

GO Terms for Mucolipidosis Iii Alpha/beta

Cellular components related to Mucolipidosis Iii Alpha/beta according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.95 IGF2R GUSB GNPTG FUCA2 FUCA1 CTSD
2 Golgi membrane GO:0000139 9.73 MBTPS1 GNPTG GNPTAB BSG
3 lysosomal membrane GO:0005765 9.62 MCOLN1 M6PR IGF2R CTSD
4 late endosome GO:0005770 9.54 MCOLN1 M6PR IGF2R
5 Golgi apparatus GO:0005794 9.5 NAGPA MCOLN1 MBTPS1 M6PR IGF2R GNPTG
6 lysosomal lumen GO:0043202 9.43 GUSB FUCA1 CTSD
7 azurophil granule lumen GO:0035578 9.33 GUSB FUCA2 FUCA1
8 lysosome GO:0005764 9.17 MCOLN1 M6PR IGF2R GUSB FUCA2 FUCA1

Biological processes related to Mucolipidosis Iii Alpha/beta according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 metabolic process GO:0008152 9.67 GUSB FUCA2 FUCA1
2 carbohydrate metabolic process GO:0005975 9.62 NAGPA GUSB FUCA2 FUCA1
3 neutrophil degranulation GO:0043312 9.55 IGF2R GUSB FUCA2 FUCA1 CTSD
4 glycosaminoglycan catabolic process GO:0006027 9.48 GUSB FUCA1
5 carbohydrate phosphorylation GO:0046835 9.46 GNPTG GNPTAB
6 lysosomal transport GO:0007041 9.43 M6PR IGF2R
7 protein targeting to lysosome GO:0006622 9.4 NAGPA M6PR
8 fucose metabolic process GO:0006004 9.37 FUCA2 FUCA1
9 glycoside catabolic process GO:0016139 9.26 FUCA2 FUCA1
10 lysosome organization GO:0007040 9.13 NAGPA MBTPS1 GNPTAB
11 secretion of lysosomal enzymes GO:0033299 8.8 NAGPA M6PR GNPTAB

Molecular functions related to Mucolipidosis Iii Alpha/beta according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 hydrolase activity GO:0016787 9.8 NAGPA MBTPS1 GUSB FUCA2 FUCA1 CTSD
2 hydrolase activity, acting on glycosyl bonds GO:0016798 9.33 GUSB FUCA2 FUCA1
3 mannose binding GO:0005537 9.26 IGF2R BSG
4 UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity GO:0003976 8.96 GNPTG GNPTAB
5 alpha-L-fucosidase activity GO:0004560 8.62 FUCA2 FUCA1

Sources for Mucolipidosis Iii Alpha/beta

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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