MLIIIA
MCID: MCL046
MIFTS: 47

Mucolipidosis Iii Alpha/beta (MLIIIA)

Categories: Blood diseases, Bone diseases, Eye diseases, Fetal diseases, Gastrointestinal 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 57 24 53 25 13
Pseudo-Hurler Polydystrophy 57 12 24 53 25 29 6 15 73
Mucolipidosis Iii 57 12 25 37 55
Mucolipidosis Iiia 57 24 25
Ml Iii Alpha/beta 57 59
Ml Iiia 57 25
Ml Iii 57 25
Mucolipidosis Type Iii Complementation Group a 75
Cariant Pseudo-Hurler Polydystrophy 75
Mucolipidosis, Type Iii, Alpha/beta 40
Mucolipidosis, Type Iii Alpha/beta 6
Mucolipidosis Type Iii Alpha/beta 59
Mucolipidosis Type 3 Alpha/beta 59
Mucolipidosis Iiia; Ml Iiia 57
Mucolipidosis Iii, Variant 25
Mucolipidosis Type 3a 53
Mucolipidosis Type 3 76
Ml 3 Alpha/beta 59
Ml 3 a 53
Mliiia 75
Ml3 53

Characteristics:

Orphanet epidemiological data:

59
mucolipidosis type iii alpha/beta
Inheritance: Autosomal recessive; Prevalence: 1-5/10000 (Worldwide);

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
mucolipidosis iii alpha/beta:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Mucolipidosis Iii Alpha/beta

NIH Rare Diseases : 53 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 GNPTAB 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. 

MalaCards based summary : Mucolipidosis Iii Alpha/beta, also known as pseudo-hurler polydystrophy, is related to mucolipidosis ii alpha/beta and mucolipidosis iii gamma, and has symptoms including thick skin and stiff shoulders. 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 is Lysosome. The drugs Peginterferon alfa-2a and Entecavir have been mentioned in the context of this disorder. Affiliated tissues include skin, bone and heart, and related phenotypes are intellectual disability and scoliosis

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.

OMIM : 57 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)

UniProtKB/Swiss-Prot : 75 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 : 76 Pseudo-Hurler polydystrophy, also referred to as mucolipidosis III (ML III), is a lysosomal storage... more...

GeneReviews: NBK1875

Related Diseases for Mucolipidosis Iii Alpha/beta

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

Symptoms via clinical synopsis from OMIM:

57
Skeletal Spine:
scoliosis
absence of dens
vertebral beaking

Skeletal:
dysostosis multiplex

Skeletal Pelvis:
shallow acetabular fossae
flaring of iliac wings

Neurologic Central Nervous System:
mental retardation
learning disabilities

Cardiovascular Heart:
aortic insufficiency

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

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

Skeletal Limbs:
short long bones
shoulder stiffness
broad metaphyses

Head And Neck Face:
mildly coarse facies

Skin Nails Hair Skin:
skin thickening


Clinical features from OMIM:

252600

Human phenotypes related to Mucolipidosis Iii Alpha/beta:

32 (show all 27)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 32 HP:0001249
2 scoliosis 32 HP:0002650
3 coarse facial features 32 HP:0000280
4 mandibular prognathia 32 HP:0000303
5 short stature 32 HP:0004322
6 retinopathy 32 HP:0000488
7 dysostosis multiplex 32 HP:0000943
8 broad ribs 32 HP:0000885
9 opacification of the corneal stroma 32 HP:0007759
10 carpal bone hypoplasia 32 HP:0001498
11 short long bone 32 HP:0003026
12 specific learning disability 32 HP:0001328
13 thickened skin 32 HP:0001072
14 split hand 32 HP:0001171
15 craniosynostosis 32 HP:0001363
16 aortic regurgitation 32 HP:0001659
17 short ribs 32 HP:0000773
18 retinal degeneration 32 HP:0000546
19 j-shaped sella turcica 32 HP:0002680
20 shallow acetabular fossae 32 HP:0003182
21 irregular carpal bones 32 HP:0004236
22 constrictive median neuropathy 32 HP:0012185
23 hyperopic astigmatism 32 HP:0000484
24 deficiency of n-acetylglucosamine-1-phosphotransferase 32 HP:0003264
25 soft tissue swelling of interphalangeal joints 32 HP:0006162
26 increased serum beta-hexosaminidase 32 HP:0003333
27 increased serum iduronate sulfatase activity 32 HP:0003538

UMLS symptoms related to Mucolipidosis Iii Alpha/beta:


thick skin, stiff shoulders

MGI Mouse Phenotypes related to Mucolipidosis Iii Alpha/beta:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.02 CTSD FUCA1 GNPTAB GNPTG GUSB

Drugs & Therapeutics for Mucolipidosis Iii Alpha/beta

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

(show all 8)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Peginterferon alfa-2a Approved, Investigational Phase 4 198153-51-4 5360545
2
Entecavir Approved, Investigational Phase 4 142217-69-4 153941
3 Interferon-alpha Phase 4
4 Anti-Infective Agents Phase 4
5 Immunologic Factors Phase 4
6 Antiviral Agents Phase 4
7 interferons Phase 4
8 Krestin

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 HBsAg Related Response Guided Therapy Unknown status NCT01456312 Phase 4 Peginterferon alfa-2a;Entecavir
2 Longitudinal Studies of the Glycoproteinoses Recruiting NCT01891422

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:

41
Skin, Bone, Heart, Testes, Eye, Kidney

Publications for Mucolipidosis Iii Alpha/beta

Articles related to Mucolipidosis Iii Alpha/beta:

(show all 35)
# Title Authors Year
1
GNPTAB c.2404C > T nonsense mutation in a patient with mucolipidosis III alpha/beta: a case report. ( 30208878 )
2018
2
An adult patient with mucolipidosis III alpha/beta presenting with parkinsonism. ( 22906612 )
2013
3
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. ( 16465621 )
2006
4
Biochemical characteristics of a Korean patient with mucolipidosis III (pseudo-Hurler polydystrophy). ( 14555827 )
2003
5
Ophthalmological findings in a patient with mucolipidosis III (pseudo-hurler polydystrophy). A case report. ( 12564313 )
2002
6
Clinical variability in mucolipidosis III (pseudo-Hurler polydystrophy). ( 11891688 )
2002
7
Molecular basis of variant pseudo-Hurler polydystrophy (mucolipidosis IIIC). ( 10712439 )
2000
8
Mucolipidosis III (pseudo-Hurler polydystrophy); clinical studies in aged patients in one family. ( 9077513 )
1997
9
Connective tissue naevus with pseudo-Hurler polydystrophy. ( 8186124 )
1994
10
Mucolipidosis III Alpha/Beta ( 20301730 )
1993
11
Phosphorylation and subcellular location of alpha-L-fucosidase in lymphoid cells from patients with I-cell disease and pseudo-Hurler polydystrophy. ( 8286862 )
1993
12
Mild I-cell disease, or severe pseudo-Hurler polydystrophy in three siblings: further evidence for intermediate forms of mucolipidosis II and III. Radiological features. ( 1788443 )
1991
13
Biosynthesis, processing, and secretion of alpha-L-fucosidase in lymphoid cells from patients with I-cell disease and pseudo-Hurler polydystrophy. ( 1822239 )
1991
14
Impaired cholesterol esterification in cultured skin fibroblasts from patients with I-cell disease and pseudo-Hurler polydystrophy. ( 2751679 )
1989
15
Altered molecular size of N-acetylglucosamine 1-phosphotransferase in I-cell disease and pseudo-Hurler polydystrophy. ( 2829837 )
1987
16
Mucolipidosis type III (pseudo-Hurler polydystrophy): conservative treatment of myofascial pain dysfunction syndrome with the sterling silver splint. ( 3459118 )
1986
17
Characterization of the mutant N-acetylglucosaminylphosphotransferase in I-cell disease and pseudo-Hurler polydystrophy: complementation analysis and kinetic studies. ( 3017692 )
1986
18
Ophthalmologic findings in mucolipidosis III (pseudo-Hurler polydystrophy). ( 3777077 )
1986
19
I-cell disease and pseudo-Hurler polydystrophy: heterozygote detection and characteristics of the altered N-acetyl-glucosamine-phosphotransferase in genetic variants. ( 2998644 )
1985
20
Demonstration of the heterozygous state for I-cell disease and pseudo-Hurler polydystrophy by assay of N-acetylglucosaminylphosphotransferase in white blood cells and fibroblasts. ( 6289658 )
1982
21
Fibroblasts from patients with I-cell disease and pseudo-Hurler polydystrophy are deficient in uridine 5'-diphosphate-N-acetylglucosamine: glycoprotein N-acetylglucosaminylphosphotransferase activity. ( 6262380 )
1981
22
Identification of a variant of mucolipidosis III (pseudo-Hurler polydystrophy): a catalytically active N-acetylglucosaminylphosphotransferase that fails to phosphorylate lysosomal enzymes. ( 6461005 )
1981
23
Acid acylhydrolase deficiency in I-cell disease and pseudo-Hurler polydystrophy. ( 42439 )
1979
24
Mucolipidosis III (pseudo-Hurler polydystrophy): report of case. ( 701114 )
1978
25
Bilateral carpal tunnel syndrome in childhood. A report of two sisters with mucolipidosis III (pseudo-Hurler polydystrophy). ( 803649 )
1975
26
Mucolipidosis III (pseudo-Hurler polydystrophy): Clinical and laboratory studies in a series of 12 patients. ( 810612 )
1975
27
Acid hydrolase deficiencies and abnormal glycoproteins in mucolipidosis. 3 (pseudo-Hurler polydystrophy). ( 4208016 )
1974
28
Pseudo-Hurler polydystrophy (mucolipidosis 3). A clinical, biochemical and ultrastructural study. ( 4213328 )
1974
29
Mucolipidosis III (pseudo-Hurler polydystrophy). ( 4282263 )
1974
30
Roentgen findings of pseudo-Hurler polydystrophy in the adult, with a note on cephalometric changes. ( 4214401 )
1974
31
Mucolipidosis 3 (Pseudo-Hurler polydystrophy): multiple lysosomal enzyme abnormalities in serum and cultured fibroblast cells. ( 4200718 )
1973
32
Mucolipidosis 3 (pseudo-Hurler polydystrophy): cytological and ultrastructural observations of cultured fibroblast cells. ( 4201594 )
1973
33
Roentgen findings in mucolipidosis III (Pseudo-Hurler polydystrophy). ( 4264747 )
1973
34
Dermatological aspects of pseudo-Hurler polydystrophy (mucolipidosis 3). ( 4202776 )
1973
35
Conjunctival ultrastructure in mucolipidosis 3 (pseudo-Hurler polydystrophy). ( 4255138 )
1971

Variations for Mucolipidosis Iii Alpha/beta

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

75 (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

ClinVar genetic disease variations for Mucolipidosis Iii Alpha/beta:

6 (show top 50) (show all 368)
# Gene Variation Type Significance SNP ID Assembly Location
1 GNPTAB NM_024312.4(GNPTAB): c.771G> A (p.Leu257=) single nucleotide variant Pathogenic rs281865025 GRCh37 Chromosome 12, 102173930: 102173930
2 GNPTAB NM_024312.4(GNPTAB): c.771G> A (p.Leu257=) single nucleotide variant Pathogenic rs281865025 GRCh38 Chromosome 12, 101780152: 101780152
3 GNPTAB NM_024312.4(GNPTAB): c.1220A> C (p.Asp407Ala) single nucleotide variant Pathogenic rs137852895 GRCh37 Chromosome 12, 102163863: 102163863
4 GNPTAB NM_024312.4(GNPTAB): c.1220A> C (p.Asp407Ala) single nucleotide variant Pathogenic rs137852895 GRCh38 Chromosome 12, 101770085: 101770085
5 GNPTAB NM_024312.4(GNPTAB): c.3565C> T (p.Arg1189Ter) single nucleotide variant Pathogenic rs137852897 GRCh37 Chromosome 12, 102147187: 102147187
6 GNPTAB NM_024312.4(GNPTAB): c.3565C> T (p.Arg1189Ter) single nucleotide variant Pathogenic rs137852897 GRCh38 Chromosome 12, 101753409: 101753409
7 GNPTAB NM_024312.4(GNPTAB): c.2715+1G> A single nucleotide variant Pathogenic rs281865031 GRCh37 Chromosome 12, 102157979: 102157979
8 GNPTAB NM_024312.4(GNPTAB): c.2715+1G> A single nucleotide variant Pathogenic rs281865031 GRCh38 Chromosome 12, 101764201: 101764201
9 GNPTAB NM_024312.4(GNPTAB): c.2574_2575delGA (p.Asn859Glnfs) deletion Pathogenic rs281865029 GRCh37 Chromosome 12, 102158120: 102158121
10 GNPTAB NM_024312.4(GNPTAB): c.2574_2575delGA (p.Asn859Glnfs) deletion Pathogenic rs281865029 GRCh38 Chromosome 12, 101764342: 101764343
11 GNPTAB NM_024312.4(GNPTAB): c.3503_3504delTC (p.Leu1168Glnfs) deletion Pathogenic rs34002892 GRCh37 Chromosome 12, 102147248: 102147249
12 GNPTAB NM_024312.4(GNPTAB): c.3503_3504delTC (p.Leu1168Glnfs) deletion Pathogenic rs34002892 GRCh38 Chromosome 12, 101753470: 101753471
13 GNPTAB NM_024312.4(GNPTAB): c.3335+6T> G single nucleotide variant Pathogenic rs34788341 GRCh37 Chromosome 12, 102151344: 102151344
14 GNPTAB NM_024312.4(GNPTAB): c.3335+6T> G single nucleotide variant Pathogenic rs34788341 GRCh38 Chromosome 12, 101757566: 101757566
15 GNPTAB NM_024312.4(GNPTAB): c.10A> C (p.Lys4Gln) single nucleotide variant Likely pathogenic rs34159654 GRCh37 Chromosome 12, 102224444: 102224444
16 GNPTAB NM_024312.4(GNPTAB): c.10A> C (p.Lys4Gln) single nucleotide variant Likely pathogenic rs34159654 GRCh38 Chromosome 12, 101830666: 101830666
17 GNPTAB NM_024312.4(GNPTAB): c.1120T> C (p.Phe374Leu) single nucleotide variant Pathogenic rs137852900 GRCh37 Chromosome 12, 102163963: 102163963
18 GNPTAB NM_024312.4(GNPTAB): c.1120T> C (p.Phe374Leu) single nucleotide variant Pathogenic rs137852900 GRCh38 Chromosome 12, 101770185: 101770185
19 GNPTAB NM_024312.4(GNPTAB): c.1196C> T (p.Ser399Phe) single nucleotide variant Pathogenic rs281865026 GRCh37 Chromosome 12, 102163887: 102163887
20 GNPTAB NM_024312.4(GNPTAB): c.1196C> T (p.Ser399Phe) single nucleotide variant Pathogenic rs281865026 GRCh38 Chromosome 12, 101770109: 101770109
21 GNPTAB NM_024312.4(GNPTAB): c.1580delC (p.Cys528Valfs) deletion Pathogenic rs36007394 GRCh37 Chromosome 12, 102159901: 102159901
22 GNPTAB NM_024312.4(GNPTAB): c.1580delC (p.Cys528Valfs) deletion Pathogenic rs36007394 GRCh38 Chromosome 12, 101766123: 101766123
23 GNPTAB NM_024312.4(GNPTAB): c.1985C> G (p.Ala662Gly) single nucleotide variant Pathogenic rs142172397 GRCh37 Chromosome 12, 102158710: 102158710
24 GNPTAB NM_024312.4(GNPTAB): c.1985C> G (p.Ala662Gly) single nucleotide variant Pathogenic rs142172397 GRCh38 Chromosome 12, 101764932: 101764932
25 GNPTAB NM_024312.4(GNPTAB): c.2051_2055delACTCA (p.Ser685Lysfs) deletion Likely pathogenic rs34901902 GRCh37 Chromosome 12, 102158640: 102158644
26 GNPTAB NM_024312.4(GNPTAB): c.2051_2055delACTCA (p.Ser685Lysfs) deletion Likely pathogenic rs34901902 GRCh38 Chromosome 12, 101764862: 101764866
27 GNPTAB NM_024312.4(GNPTAB): c.3613C> T (p.Arg1205Ter) single nucleotide variant Pathogenic rs35333334 GRCh37 Chromosome 12, 102142959: 102142959
28 GNPTAB NM_024312.4(GNPTAB): c.3613C> T (p.Arg1205Ter) single nucleotide variant Pathogenic rs35333334 GRCh38 Chromosome 12, 101749181: 101749181
29 GNPTAB NM_024312.4(GNPTAB): c.569A> T (p.Asp190Val) single nucleotide variant Uncertain significance rs34946266 GRCh37 Chromosome 12, 102179792: 102179792
30 GNPTAB NM_024312.4(GNPTAB): c.569A> T (p.Asp190Val) single nucleotide variant Uncertain significance rs34946266 GRCh38 Chromosome 12, 101786014: 101786014
31 GNPTAB NM_024312.4(GNPTAB): c.616_619delACAG (p.Thr206Tyrfs) deletion Pathogenic rs281865024 GRCh37 Chromosome 12, 102174352: 102174355
32 GNPTAB NM_024312.4(GNPTAB): c.616_619delACAG (p.Thr206Tyrfs) deletion Pathogenic rs281865024 GRCh38 Chromosome 12, 101780574: 101780577
33 GNPTAB NM_024312.4(GNPTAB): c.1000C> T (p.Arg334Ter) single nucleotide variant Pathogenic/Likely pathogenic rs281864969 GRCh37 Chromosome 12, 102164297: 102164297
34 GNPTAB NM_024312.4(GNPTAB): c.1000C> T (p.Arg334Ter) single nucleotide variant Pathogenic/Likely pathogenic rs281864969 GRCh38 Chromosome 12, 101770519: 101770519
35 GNPTAB NM_024312.4(GNPTAB): c.1001G> A (p.Arg334Gln) single nucleotide variant Pathogenic rs281864970 GRCh37 Chromosome 12, 102164296: 102164296
36 GNPTAB NM_024312.4(GNPTAB): c.1001G> A (p.Arg334Gln) single nucleotide variant Pathogenic rs281864970 GRCh38 Chromosome 12, 101770518: 101770518
37 GNPTAB NM_024312.4(GNPTAB): c.1042A> C (p.Ile348Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs7958709 GRCh37 Chromosome 12, 102164255: 102164255
38 GNPTAB NM_024312.4(GNPTAB): c.1042A> C (p.Ile348Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs7958709 GRCh38 Chromosome 12, 101770477: 101770477
39 GNPTAB NM_024312.4(GNPTAB): c.1090C> T (p.Arg364Ter) single nucleotide variant Pathogenic rs200646278 GRCh37 Chromosome 12, 102164207: 102164207
40 GNPTAB NM_024312.4(GNPTAB): c.1090C> T (p.Arg364Ter) single nucleotide variant Pathogenic rs200646278 GRCh38 Chromosome 12, 101770429: 101770429
41 GNPTAB NM_024312.4(GNPTAB): c.1123C> T (p.Arg375Ter) single nucleotide variant Pathogenic rs397507447 GRCh37 Chromosome 12, 102163960: 102163960
42 GNPTAB NM_024312.4(GNPTAB): c.1123C> T (p.Arg375Ter) single nucleotide variant Pathogenic rs397507447 GRCh38 Chromosome 12, 101770182: 101770182
43 GNPTAB NM_024312.4(GNPTAB): c.1208T> C (p.Ile403Thr) single nucleotide variant Pathogenic rs281864973 GRCh37 Chromosome 12, 102163875: 102163875
44 GNPTAB NM_024312.4(GNPTAB): c.1208T> C (p.Ile403Thr) single nucleotide variant Pathogenic rs281864973 GRCh38 Chromosome 12, 101770097: 101770097
45 GNPTAB NM_024312.4(GNPTAB): c.1285-2A> G single nucleotide variant Pathogenic rs281864974 GRCh37 Chromosome 12, 102161940: 102161940
46 GNPTAB NM_024312.4(GNPTAB): c.1285-2A> G single nucleotide variant Pathogenic rs281864974 GRCh38 Chromosome 12, 101768162: 101768162
47 GNPTAB NM_024312.4(GNPTAB): c.1325G> A (p.Cys442Tyr) single nucleotide variant Pathogenic rs281864975 GRCh37 Chromosome 12, 102161898: 102161898
48 GNPTAB NM_024312.4(GNPTAB): c.1325G> A (p.Cys442Tyr) single nucleotide variant Pathogenic rs281864975 GRCh38 Chromosome 12, 101768120: 101768120
49 GNPTAB NM_024312.4(GNPTAB): c.136C> T (p.Arg46Ter) single nucleotide variant Pathogenic rs78347057 GRCh37 Chromosome 12, 102190522: 102190522
50 GNPTAB NM_024312.4(GNPTAB): c.136C> T (p.Arg46Ter) single nucleotide variant Pathogenic rs78347057 GRCh38 Chromosome 12, 101796744: 101796744

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:

37
# 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 11.11 CTSD FUCA1 GNPTAB GNPTG GUSB

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 region GO:0005576 9.67 CTSD FUCA1 GNPTG GUSB
2 extracellular exosome GO:0070062 9.62 CTSD FUCA1 GNPTG GUSB
3 ficolin-1-rich granule lumen GO:1904813 9.26 CTSD GUSB
4 azurophil granule lumen GO:0035578 9.16 FUCA1 GUSB
5 lysosome GO:0005764 9.13 CTSD FUCA1 GUSB
6 lysosomal lumen GO:0043202 8.8 CTSD FUCA1 GUSB

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

# Name GO ID Score Top Affiliating Genes
1 neutrophil degranulation GO:0043312 9.43 CTSD FUCA1 GUSB
2 carbohydrate metabolic process GO:0005975 9.37 FUCA1 GUSB
3 metabolic process GO:0008152 9.32 FUCA1 GUSB
4 glycosaminoglycan catabolic process GO:0006027 9.16 FUCA1 GUSB
5 carbohydrate phosphorylation GO:0046835 8.96 GNPTAB GNPTG
6 N-glycan processing to lysosome GO:0016256 8.62 GNPTAB GNPTG

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

# Name GO ID Score Top Affiliating Genes
1 hydrolase activity, acting on glycosyl bonds GO:0016798 8.96 FUCA1 GUSB
2 UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity GO:0003976 8.62 GNPTAB GNPTG

Sources for Mucolipidosis Iii Alpha/beta

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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