MCID: MCL046
MIFTS: 49

Mucolipidosis Iii Alpha/beta

Categories: Genetic diseases, Rare diseases, Bone diseases, Metabolic diseases, Fetal diseases, Neuronal diseases, Eye 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 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 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 Glycosaminoglycan degradation. The drugs Entecavir and Peginterferon alfa-2a 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 26)
# 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 dysostosis multiplex 32 HP:0000943
7 broad ribs 32 HP:0000885
8 opacification of the corneal stroma 32 HP:0007759
9 carpal bone hypoplasia 32 HP:0001498
10 short long bone 32 HP:0003026
11 specific learning disability 32 HP:0001328
12 thickened skin 32 HP:0001072
13 split hand 32 HP:0001171
14 craniosynostosis 32 HP:0001363
15 aortic regurgitation 32 HP:0001659
16 short ribs 32 HP:0000773
17 retinal degeneration 32 HP:0000546
18 j-shaped sella turcica 32 HP:0002680
19 shallow acetabular fossae 32 HP:0003182
20 irregular carpal bones 32 HP:0004236
21 constrictive median neuropathy 32 HP:0012185
22 hyperopic astigmatism 32 HP:0000484
23 deficiency of n-acetylglucosamine-1-phosphotransferase 32 HP:0003264
24 soft tissue swelling of interphalangeal joints 32 HP:0006162
25 increased serum beta-hexosaminidase 32 HP:0003333
26 increased serum iduronate sulfatase activity 32 HP:0003538

UMLS symptoms related to Mucolipidosis Iii Alpha/beta:


stiff shoulders, thick skin

Drugs & Therapeutics for Mucolipidosis Iii Alpha/beta

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

(show all 7)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Entecavir Approved, Investigational Phase 4 142217-69-4 153941
2
Peginterferon alfa-2a Approved, Investigational Phase 4 198153-51-4 5360545
3 Anti-Infective Agents Phase 4
4 Antiviral Agents Phase 4
5 Interferon-alpha Phase 4
6 interferons Phase 4
7 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
3 Biomarker for Mucolipidosis Disorder Type I, II, III or IV 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:

41
Skin, Bone, Heart, Testes

Publications for Mucolipidosis Iii Alpha/beta

Articles related to Mucolipidosis Iii Alpha/beta:

(show all 33)
# Title Authors Year
1
An adult patient with mucolipidosis III alpha/beta presenting with parkinsonism. ( 22906612 )
2013
2
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
3
Biochemical characteristics of a Korean patient with mucolipidosis III (pseudo-Hurler polydystrophy). ( 14555827 )
2003
4
Ophthalmological findings in a patient with mucolipidosis III (pseudo-hurler polydystrophy). A case report. ( 12564313 )
2002
5
Clinical variability in mucolipidosis III (pseudo-Hurler polydystrophy). ( 11891688 )
2002
6
Molecular basis of variant pseudo-Hurler polydystrophy (mucolipidosis IIIC). ( 10712439 )
2000
7
Mucolipidosis III (pseudo-Hurler polydystrophy); clinical studies in aged patients in one family. ( 9077513 )
1997
8
Connective tissue naevus with pseudo-Hurler polydystrophy. ( 8186124 )
1994
9
Mucolipidosis III Alpha/Beta ( 20301730 )
1993
10
Phosphorylation and subcellular location of alpha-L-fucosidase in lymphoid cells from patients with I-cell disease and pseudo-Hurler polydystrophy. ( 8286862 )
1993
11
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
12
Biosynthesis, processing, and secretion of alpha-L-fucosidase in lymphoid cells from patients with I-cell disease and pseudo-Hurler polydystrophy. ( 1822239 )
1991
13
Impaired cholesterol esterification in cultured skin fibroblasts from patients with I-cell disease and pseudo-Hurler polydystrophy. ( 2751679 )
1989
14
Altered molecular size of N-acetylglucosamine 1-phosphotransferase in I-cell disease and pseudo-Hurler polydystrophy. ( 2829837 )
1987
15
Mucolipidosis type III (pseudo-Hurler polydystrophy): conservative treatment of myofascial pain dysfunction syndrome with the sterling silver splint. ( 3459118 )
1986
16
Characterization of the mutant N-acetylglucosaminylphosphotransferase in I-cell disease and pseudo-Hurler polydystrophy: complementation analysis and kinetic studies. ( 3017692 )
1986
17
Ophthalmologic findings in mucolipidosis III (pseudo-Hurler polydystrophy). ( 3777077 )
1986
18
I-cell disease and pseudo-Hurler polydystrophy: heterozygote detection and characteristics of the altered N-acetyl-glucosamine-phosphotransferase in genetic variants. ( 2998644 )
1985
19
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
20
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
21
Identification of a variant of mucolipidosis III (pseudo-Hurler polydystrophy): a catalytically active N-acetylglucosaminylphosphotransferase that fails to phosphorylate lysosomal enzymes. ( 6461005 )
1981
22
Acid acylhydrolase deficiency in I-cell disease and pseudo-Hurler polydystrophy. ( 42439 )
1979
23
Mucolipidosis III (pseudo-Hurler polydystrophy): report of case. ( 701114 )
1978
24
Bilateral carpal tunnel syndrome in childhood. A report of two sisters with mucolipidosis III (pseudo-Hurler polydystrophy). ( 803649 )
1975
25
Mucolipidosis III (pseudo-Hurler polydystrophy): Clinical and laboratory studies in a series of 12 patients. ( 810612 )
1975
26
Acid hydrolase deficiencies and abnormal glycoproteins in mucolipidosis. 3 (pseudo-Hurler polydystrophy). ( 4208016 )
1974
27
Pseudo-Hurler polydystrophy (mucolipidosis 3). A clinical, biochemical and ultrastructural study. ( 4213328 )
1974
28
Mucolipidosis III (pseudo-Hurler polydystrophy). ( 4282263 )
1974
29
Mucolipidosis 3 (Pseudo-Hurler polydystrophy): multiple lysosomal enzyme abnormalities in serum and cultured fibroblast cells. ( 4200718 )
1973
30
Mucolipidosis 3 (pseudo-Hurler polydystrophy): cytological and ultrastructural observations of cultured fibroblast cells. ( 4201594 )
1973
31
Roentgen findings in mucolipidosis III (Pseudo-Hurler polydystrophy). ( 4264747 )
1973
32
Dermatological aspects of pseudo-Hurler polydystrophy (mucolipidosis 3). ( 4202776 )
1973
33
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 248)
# 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 Pathogenic rs34159654 GRCh37 Chromosome 12, 102224444: 102224444
16 GNPTAB NM_024312.4(GNPTAB): c.10A> C (p.Lys4Gln) single nucleotide variant 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.1985C> G (p.Ala662Gly) single nucleotide variant Pathogenic rs142172397 GRCh37 Chromosome 12, 102158710: 102158710
22 GNPTAB NM_024312.4(GNPTAB): c.1985C> G (p.Ala662Gly) single nucleotide variant Pathogenic rs142172397 GRCh38 Chromosome 12, 101764932: 101764932
23 GNPTAB NM_024312.4(GNPTAB): c.3613C> T (p.Arg1205Ter) single nucleotide variant Pathogenic rs35333334 GRCh37 Chromosome 12, 102142959: 102142959
24 GNPTAB NM_024312.4(GNPTAB): c.3613C> T (p.Arg1205Ter) single nucleotide variant Pathogenic rs35333334 GRCh38 Chromosome 12, 101749181: 101749181
25 GNPTAB NM_024312.4(GNPTAB): c.1000C> T (p.Arg334Ter) single nucleotide variant Pathogenic rs281864969 GRCh37 Chromosome 12, 102164297: 102164297
26 GNPTAB NM_024312.4(GNPTAB): c.1000C> T (p.Arg334Ter) single nucleotide variant Pathogenic rs281864969 GRCh38 Chromosome 12, 101770519: 101770519
27 GNPTAB NM_024312.4(GNPTAB): c.1001G> A (p.Arg334Gln) single nucleotide variant Pathogenic rs281864970 GRCh37 Chromosome 12, 102164296: 102164296
28 GNPTAB NM_024312.4(GNPTAB): c.1001G> A (p.Arg334Gln) single nucleotide variant Pathogenic rs281864970 GRCh38 Chromosome 12, 101770518: 101770518
29 GNPTAB NM_024312.4(GNPTAB): c.1208T> C (p.Ile403Thr) single nucleotide variant Pathogenic rs281864973 GRCh37 Chromosome 12, 102163875: 102163875
30 GNPTAB NM_024312.4(GNPTAB): c.1208T> C (p.Ile403Thr) single nucleotide variant Pathogenic rs281864973 GRCh38 Chromosome 12, 101770097: 101770097
31 GNPTAB NM_024312.4(GNPTAB): c.1285-2A> G single nucleotide variant Pathogenic rs281864974 GRCh37 Chromosome 12, 102161940: 102161940
32 GNPTAB NM_024312.4(GNPTAB): c.1285-2A> G single nucleotide variant Pathogenic rs281864974 GRCh38 Chromosome 12, 101768162: 101768162
33 GNPTAB NM_024312.4(GNPTAB): c.1325G> A (p.Cys442Tyr) single nucleotide variant Pathogenic rs281864975 GRCh37 Chromosome 12, 102161898: 102161898
34 GNPTAB NM_024312.4(GNPTAB): c.1325G> A (p.Cys442Tyr) single nucleotide variant Pathogenic rs281864975 GRCh38 Chromosome 12, 101768120: 101768120
35 GNPTAB NM_024312.4(GNPTAB): c.1385_1386insA (p.Asp462Glufs) insertion Pathogenic rs281864978 GRCh37 Chromosome 12, 102161838: 102161838
36 GNPTAB NM_024312.4(GNPTAB): c.1385_1386insA (p.Asp462Glufs) insertion Pathogenic rs281864978 GRCh38 Chromosome 12, 101768060: 101768060
37 GNPTAB NM_024312.4(GNPTAB): c.1514G> A (p.Cys505Tyr) single nucleotide variant Likely pathogenic rs281864980 GRCh37 Chromosome 12, 102159967: 102159967
38 GNPTAB NM_024312.4(GNPTAB): c.1514G> A (p.Cys505Tyr) single nucleotide variant Likely pathogenic rs281864980 GRCh38 Chromosome 12, 101766189: 101766189
39 GNPTAB NM_024312.4(GNPTAB): c.168T> A (p.Tyr56Ter) single nucleotide variant Pathogenic rs281864950 GRCh37 Chromosome 12, 102190490: 102190490
40 GNPTAB NM_024312.4(GNPTAB): c.168T> A (p.Tyr56Ter) single nucleotide variant Pathogenic rs281864950 GRCh38 Chromosome 12, 101796712: 101796712
41 GNPTAB NM_024312.4(GNPTAB): c.232_234delGTT (p.Val78del) deletion Pathogenic rs281864952 GRCh37 Chromosome 12, 102183805: 102183807
42 GNPTAB NM_024312.4(GNPTAB): c.232_234delGTT (p.Val78del) deletion Pathogenic rs281864952 GRCh38 Chromosome 12, 101790027: 101790029
43 GNPTAB NM_024312.4(GNPTAB): c.242G> T (p.Trp81Leu) single nucleotide variant Pathogenic rs281864953 GRCh37 Chromosome 12, 102183797: 102183797
44 GNPTAB NM_024312.4(GNPTAB): c.242G> T (p.Trp81Leu) single nucleotide variant Pathogenic rs281864953 GRCh38 Chromosome 12, 101790019: 101790019
45 GNPTAB NM_024312.4(GNPTAB): c.2550_2554delGAAAA (p.Lys850Asnfs) deletion Likely pathogenic rs281864996 GRCh37 Chromosome 12, 102158141: 102158145
46 GNPTAB NM_024312.4(GNPTAB): c.2550_2554delGAAAA (p.Lys850Asnfs) deletion Likely pathogenic rs281864996 GRCh38 Chromosome 12, 101764363: 101764367
47 GNPTAB NM_024312.4(GNPTAB): c.2693delA (p.Lys898Serfs) deletion Pathogenic rs281865000 GRCh37 Chromosome 12, 102158002: 102158002
48 GNPTAB NM_024312.4(GNPTAB): c.2693delA (p.Lys898Serfs) deletion Pathogenic rs281865000 GRCh38 Chromosome 12, 101764224: 101764224
49 GNPTAB NM_024312.4(GNPTAB): c.2715+2T> G single nucleotide variant Pathogenic rs281865001 GRCh37 Chromosome 12, 102157978: 102157978
50 GNPTAB NM_024312.4(GNPTAB): c.2715+2T> G single nucleotide variant Pathogenic rs281865001 GRCh38 Chromosome 12, 101764200: 101764200

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 GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.19 CTSD FUCA1 GALNS GNPTAB GNPTG GUSB
2
Show member pathways
10.26 GALNS 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 exosome GO:0070062 9.8 BSG CTSD FUCA1 GALNS GNPTG GUSB
2 extracellular region GO:0005576 9.73 CTSD FUCA1 GALNS GNPTG GUSB HTN3
3 lysosome GO:0005764 9.46 CTSD FUCA1 GALNS GUSB
4 melanosome GO:0042470 9.37 BSG CTSD
5 azurophil granule lumen GO:0035578 9.13 FUCA1 GALNS GUSB
6 lysosomal lumen GO:0043202 8.92 CTSD FUCA1 GALNS GUSB

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

# Name GO ID Score Top Affiliating Genes
1 metabolic process GO:0008152 9.5 FUCA1 GALNS GUSB
2 glycosaminoglycan catabolic process GO:0006027 9.26 FUCA1 GUSB
3 neutrophil degranulation GO:0043312 9.26 CTSD FUCA1 GALNS GUSB
4 carbohydrate phosphorylation GO:0046835 9.16 GNPTAB GNPTG
5 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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