MCID: MCL046
MIFTS: 50

Mucolipidosis Iii Alpha/beta

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

Aliases & Classifications for Mucolipidosis Iii Alpha/beta

MalaCards integrated aliases for Mucolipidosis Iii Alpha/beta:

Name: Mucolipidosis Iii Alpha/beta 53 23 49 24 13
Pseudo-Hurler Polydystrophy 53 12 23 49 24 28 14 69
Mucolipidosis Iii 53 12 24 51
Mucolipidosis Iiia 53 23 24
Ml Iii Alpha/beta 53 55
Ml Iiia 53 24
Ml Iii 53 24
Mucolipidosis Type Iii Complementation Group a 71
Cariant Pseudo-Hurler Polydystrophy 71
Mucolipidosis Type Iii Alpha/beta 55
Mucolipidosis Type 3 Alpha/beta 55
Mucolipidosis Iiia; Ml Iiia 53
Mucolipidosis Iii, Variant 24
Mucolipidosis Type 3a 49
Mucolipidosis Type 3 72
Ml 3 Alpha/beta 55
Ml 3 a 49
Mliiia 71
Ml3 49

Characteristics:

Orphanet epidemiological data:

55
mucolipidosis type iii alpha/beta
Inheritance: Autosomal recessive; Prevalence: 1-5/10000 (Worldwide);

OMIM:

53
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:



Summaries for Mucolipidosis Iii Alpha/beta

NIH Rare Diseases : 49 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.  Last updated: 7/19/2016

MalaCards based summary : Mucolipidosis Iii Alpha/beta, also known as pseudo-hurler polydystrophy, is related to mucolipidosis iii gamma and mucolipidosis ii alpha/beta, and has symptoms including intellectual disability, scoliosis and coarse facial features. An important gene associated with Mucolipidosis Iii Alpha/beta is GNPTAB (N-Acetylglucosamine-1-Phosphate Transferase Alpha And Beta Subunits), 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.

OMIM : 53 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 : 71 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.

Genetics Home Reference : 24 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.

Wikipedia : 72 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:

53
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 RibsSternum 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:

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

UMLS symptoms related to Mucolipidosis Iii Alpha/beta:


thick skin, stiff shoulders

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 28 GNPTAB

Anatomical Context for Mucolipidosis Iii Alpha/beta

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

38
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
Clinical variability in mucolipidosis III (pseudo-Hurler polydystrophy). ( 11891688 )
2002
5
Ophthalmological findings in a patient with mucolipidosis III (pseudo-hurler polydystrophy). A case report. ( 12564313 )
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
Ophthalmologic findings in mucolipidosis III (pseudo-Hurler polydystrophy). ( 3777077 )
1986
17
Characterization of the mutant N-acetylglucosaminylphosphotransferase in I-cell disease and pseudo-Hurler polydystrophy: complementation analysis and kinetic studies. ( 3017692 )
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
Identification of a variant of mucolipidosis III (pseudo-Hurler polydystrophy): a catalytically active N-acetylglucosaminylphosphotransferase that fails to phosphorylate lysosomal enzymes. ( 6461005 )
1981
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
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
Mucolipidosis III (pseudo-Hurler polydystrophy): Clinical and laboratory studies in a series of 12 patients. ( 810612 )
1975
25
Bilateral carpal tunnel syndrome in childhood. A report of two sisters with mucolipidosis III (pseudo-Hurler polydystrophy). ( 803649 )
1975
26
Pseudo-Hurler polydystrophy (mucolipidosis 3). A clinical, biochemical and ultrastructural study. ( 4213328 )
1974
27
Acid hydrolase deficiencies and abnormal glycoproteins in mucolipidosis. 3 (pseudo-Hurler polydystrophy). ( 4208016 )
1974
28
Mucolipidosis III (pseudo-Hurler polydystrophy). ( 4282263 )
1974
29
Roentgen findings in mucolipidosis III (Pseudo-Hurler polydystrophy). ( 4264747 )
1973
30
Mucolipidosis 3 (pseudo-Hurler polydystrophy): cytological and ultrastructural observations of cultured fibroblast cells. ( 4201594 )
1973
31
Mucolipidosis 3 (Pseudo-Hurler polydystrophy): multiple lysosomal enzyme abnormalities in serum and cultured fibroblast cells. ( 4200718 )
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:

71 (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 54)
# Gene Variation Type Significance SNP ID Assembly Location
1 GNPTAB NM_024312.4(GNPTAB): c.1196C> T (p.Ser399Phe) single nucleotide variant Pathogenic rs281865026 GRCh37 Chromosome 12, 102163887: 102163887
2 GNPTAB NM_024312.4(GNPTAB): c.1985C> G (p.Ala662Gly) single nucleotide variant Pathogenic rs142172397 GRCh37 Chromosome 12, 102158710: 102158710
3 GNPTAB NM_024312.4(GNPTAB): c.3613C> T (p.Arg1205Ter) single nucleotide variant Pathogenic rs35333334 GRCh37 Chromosome 12, 102142959: 102142959
4 GNPTAB NM_024312.4(GNPTAB): c.1000C> T (p.Arg334Ter) single nucleotide variant Pathogenic rs281864969 GRCh37 Chromosome 12, 102164297: 102164297
5 GNPTAB NM_024312.4(GNPTAB): c.1001G> A (p.Arg334Gln) single nucleotide variant Pathogenic rs281864970 GRCh37 Chromosome 12, 102164296: 102164296
6 GNPTAB NM_024312.4(GNPTAB): c.1208T> C (p.Ile403Thr) single nucleotide variant Pathogenic rs281864973 GRCh37 Chromosome 12, 102163875: 102163875
7 GNPTAB NM_024312.4(GNPTAB): c.1285-2A> G single nucleotide variant Pathogenic rs281864974 GRCh37 Chromosome 12, 102161940: 102161940
8 GNPTAB NM_024312.4(GNPTAB): c.1325G> A (p.Cys442Tyr) single nucleotide variant Pathogenic rs281864975 GRCh37 Chromosome 12, 102161898: 102161898
9 GNPTAB NM_024312.4(GNPTAB): c.1385_1386insA (p.Asp462Glufs) insertion Pathogenic rs281864978 GRCh37 Chromosome 12, 102161838: 102161838
10 GNPTAB NM_024312.4(GNPTAB): c.1514G> A (p.Cys505Tyr) single nucleotide variant Pathogenic rs281864980 GRCh37 Chromosome 12, 102159967: 102159967
11 GNPTAB NM_024312.4(GNPTAB): c.168T> A (p.Tyr56Ter) single nucleotide variant Pathogenic rs281864950 GRCh37 Chromosome 12, 102190490: 102190490
12 GNPTAB NM_024312.4(GNPTAB): c.232_234delGTT (p.Val78del) deletion Pathogenic rs281864952 GRCh37 Chromosome 12, 102183805: 102183807
13 GNPTAB NM_024312.4(GNPTAB): c.242G> T (p.Trp81Leu) single nucleotide variant Pathogenic rs281864953 GRCh37 Chromosome 12, 102183797: 102183797
14 GNPTAB NM_024312.4(GNPTAB): c.2550_2554delGAAAA (p.Lys850Asnfs) deletion Pathogenic/Likely pathogenic rs281864996 GRCh37 Chromosome 12, 102158141: 102158145
15 GNPTAB NM_024312.4(GNPTAB): c.2693delA (p.Lys898Serfs) deletion Pathogenic rs281865000 GRCh37 Chromosome 12, 102158002: 102158002
16 GNPTAB NM_024312.4(GNPTAB): c.2715+2T> G single nucleotide variant Pathogenic rs281865001 GRCh37 Chromosome 12, 102157978: 102157978
17 GNPTAB NM_024312.4(GNPTAB): c.2777A> C (p.Gln926Pro) single nucleotide variant Pathogenic rs281865002 GRCh37 Chromosome 12, 102155480: 102155480
18 GNPTAB NM_024312.4(GNPTAB): c.2866C> T (p.His956Tyr) single nucleotide variant Pathogenic rs281865004 GRCh37 Chromosome 12, 102155391: 102155391
19 GNPTAB NM_024312.4(GNPTAB): c.2867A> G (p.His956Arg) single nucleotide variant Pathogenic rs281865005 GRCh37 Chromosome 12, 102155390: 102155390
20 GNPTAB NM_024312.4(GNPTAB): c.3443_3446delTTTG (p.Val1148Alafs) deletion Pathogenic rs281865018 GRCh37 Chromosome 12, 102147306: 102147309
21 GNPTAB NM_024312.4(GNPTAB): c.3458A> G (p.Asn1153Ser) single nucleotide variant Pathogenic rs281865019 GRCh37 Chromosome 12, 102147294: 102147294
22 GNPTAB NM_024312.4(GNPTAB): c.3741_3744delAGAA (p.Glu1248Leufs) deletion Pathogenic rs281865022 GRCh37 Chromosome 12, 102140969: 102140972
23 GNPTAB NM_024312.4(GNPTAB): c.44C> A (p.Ser15Tyr) single nucleotide variant Pathogenic rs281864947 GRCh37 Chromosome 12, 102224410: 102224410
24 GNPTAB NM_024312.4(GNPTAB): c.517_518insA (p.Pro173Hisfs) insertion Pathogenic rs281864957 GRCh37 Chromosome 12, 102179843: 102179844
25 GNPTAB NM_024312.4(GNPTAB): c.571+3A> C single nucleotide variant Pathogenic rs281864960 GRCh37 Chromosome 12, 102179787: 102179787
26 GNPTAB NM_024312.4(GNPTAB): c.1774G> A (p.Ala592Thr) single nucleotide variant Pathogenic rs149390820 GRCh37 Chromosome 12, 102158921: 102158921
27 GNPTAB NM_024312.4(GNPTAB): c.2354T> G (p.Leu785Trp) single nucleotide variant Pathogenic rs144060383 GRCh37 Chromosome 12, 102158341: 102158341
28 GNPTAB NM_024312.4(GNPTAB): c.771G> A (p.Leu257=) single nucleotide variant Pathogenic rs281865025 GRCh37 Chromosome 12, 102173930: 102173930
29 GNPTAB NM_024312.4(GNPTAB): c.1220A> C (p.Asp407Ala) single nucleotide variant Pathogenic rs137852895 GRCh37 Chromosome 12, 102163863: 102163863
30 GNPTAB NM_024312.4(GNPTAB): c.3565C> T (p.Arg1189Ter) single nucleotide variant Pathogenic rs137852897 GRCh37 Chromosome 12, 102147187: 102147187
31 GNPTAB NM_024312.4(GNPTAB): c.2715+1G> A single nucleotide variant Pathogenic rs281865031 GRCh37 Chromosome 12, 102157979: 102157979
32 GNPTAB NM_024312.4(GNPTAB): c.2574_2575delGA (p.Asn859Glnfs) deletion Pathogenic rs281865029 GRCh37 Chromosome 12, 102158120: 102158121
33 GNPTAB NM_024312.4(GNPTAB): c.3503_3504delTC (p.Leu1168Glnfs) deletion Pathogenic rs34002892 GRCh37 Chromosome 12, 102147248: 102147249
34 GNPTAB NM_024312.4(GNPTAB): c.3335+6T> G single nucleotide variant Pathogenic rs34788341 GRCh37 Chromosome 12, 102151344: 102151344
35 GNPTAB NM_024312.4(GNPTAB): c.10A> C (p.Lys4Gln) single nucleotide variant Pathogenic rs34159654 GRCh37 Chromosome 12, 102224444: 102224444
36 GNPTAB NM_024312.4(GNPTAB): c.1120T> C (p.Phe374Leu) single nucleotide variant Pathogenic rs137852900 GRCh37 Chromosome 12, 102163963: 102163963
37 GNPTAB NM_024312.4(GNPTAB): c.3575T> C (p.Phe1192Ser) single nucleotide variant Likely pathogenic rs1060499688 GRCh37 Chromosome 12, 102147177: 102147177
38 GNPTAB NM_024312.4(GNPTAB): c.3539C> T (p.Ser1180Phe) single nucleotide variant Likely pathogenic rs1060499689 GRCh38 Chromosome 12, 101753435: 101753435
39 GNPTAB NM_024312.4(GNPTAB): c.3449delT (p.Leu1150Argfs) deletion Likely pathogenic rs1060499684 GRCh37 Chromosome 12, 102147303: 102147303
40 GNPTAB NM_024312.4(GNPTAB): c.3336-1G> A single nucleotide variant Likely pathogenic rs397507562 GRCh37 Chromosome 12, 102151089: 102151089
41 GNPTAB NM_024312.4(GNPTAB): c.3250-16_3335+106dup duplication Likely pathogenic GRCh37 Chromosome 12, 102151244: 102151451
42 GNPTAB NM_024312.4(GNPTAB): c.3250-1_3250delinsAT indel Likely pathogenic rs1060499687 GRCh37 Chromosome 12, 102151435: 102151436
43 GNPTAB NM_024312.4(GNPTAB): c.2956C> T (p.Arg986Cys) single nucleotide variant Likely pathogenic rs769587233 GRCh37 Chromosome 12, 102155084: 102155084
44 GNPTAB NM_024312.4(GNPTAB): c.2947_2954dupCACAAAGT (p.Arg986Thrfs) duplication Likely pathogenic GRCh38 Chromosome 12, 101761308: 101761315
45 GNPTAB NM_024312.4(GNPTAB): c.2675dupT (p.Leu892Phefs) duplication Likely pathogenic GRCh37 Chromosome 12, 102158020: 102158020
46 GNPTAB NM_024312.4(GNPTAB): c.2614_2614delG (p.Val872Leufs) deletion Likely pathogenic rs1060499681 GRCh38 Chromosome 12, 101764303: 101764303
47 GNPTAB NM_024312.4(GNPTAB): c.2541_2545dupAAAAG (p.Ile852Argfs) duplication Likely pathogenic rs281864996 GRCh37 Chromosome 12, 102158150: 102158154
48 GNPTAB NM_024312.4(GNPTAB): c.2369_2370delTT (p.Phe790Serfs) deletion Likely pathogenic rs1060499685 GRCh38 Chromosome 12, 101764547: 101764548
49 GNPTAB NM_024312.4(GNPTAB): c.1613-25delA deletion Likely pathogenic rs777271928 GRCh38 Chromosome 12, 101765329: 101765329
50 GNPTAB NM_024312.4(GNPTAB): c.1600G> A (p.Asp534Asn) single nucleotide variant Likely pathogenic rs750240374 GRCh37 Chromosome 12, 102159881: 102159881

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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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