MCID: MCL046
MIFTS: 46

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 54 23 50 24 25 13
Pseudo-Hurler Polydystrophy 12 23 50 24 25 29 14 69
Mucolipidosis Iiia 23 24 25
Mucolipidosis Iii 12 25 52
Ml Iiia 24 25
Ml Iii 24 25
Ml3 50 24
Mucolipidosis Type Iii Complementation Group a 71
Cariant Pseudo-Hurler Polydystrophy 71
Mucolipidosis Type Iii Alpha/beta 56
Mucolipidosis Type 3 Alpha/beta 56
Mucolipidosis Iii Alpha Beta 24
Mucolipidosis Iii, Variant 25
Mucolipidosis Type 3a 50
Ml Iii Alpha/beta 56
Ml 3 Alpha/beta 56
Ml 3 a 50
Mliiia 71

Characteristics:

Orphanet epidemiological data:

56
mucolipidosis type iii alpha/beta
Inheritance: Autosomal recessive; Prevalence: 1-5/10000 (Worldwide);

OMIM:

54
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 : 50 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 ii alpha/beta and mucolipidosis iii gamma, and has symptoms including short stature, 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 testes.

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 : 54
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.

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:

54

Growth- Height:
short stature

Neurologic- Central Nervous System:
mental retardation
learning disabilities

Skeletal- Limbs:
short long bones
shoulder stiffness
broad metaphyses

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

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

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

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

Skeletal- Spine:
scoliosis
absence of dens
vertebral beaking

Skeletal:
dysostosis multiplex

Skeletal- Pelvis:
shallow acetabular fossae
flaring of iliac wings

Cardiovascular- Heart:
aortic insufficiency

Head And Neck- Eyes:
corneal clouding
mild retinopathy
hyperopic astigmatism

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

Interventional clinical trials:


id 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:

id Genetic test Affiliating Genes
1 Pseudo-Hurler Polydystrophy 29
2 Mucolipidosis Iii Alpha/beta 24 GNPTAB

Anatomical Context for Mucolipidosis Iii Alpha/beta

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

39
Skin, Bone, Testes, Heart

Publications for Mucolipidosis Iii Alpha/beta

Articles related to Mucolipidosis Iii Alpha/beta:

id Title Authors Year
1
An adult patient with mucolipidosis III alpha/beta presenting with parkinsonism. ( 22906612 )
2013
2
Mucolipidosis III Alpha/Beta ( 20301730 )
1993

Variations for Mucolipidosis Iii Alpha/beta

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

71 (show all 15)
id 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.Arg334Gln VAR_073128 rs281864970
12 GNPTAB p.Cys468Ser VAR_073129 rs281864979
13 GNPTAB p.Arg587Pro VAR_073131
14 GNPTAB p.Gly575Arg VAR_074206
15 GNPTAB p.Thr644Met VAR_074207 rs386765812

ClinVar genetic disease variations for Mucolipidosis Iii Alpha/beta:

6 (show top 50) (show all 54)
id 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.1220A> C (p.Asp407Ala) single nucleotide variant Pathogenic rs137852895 GRCh37 Chromosome 12, 102163863: 102163863
3 GNPTAB NM_024312.4(GNPTAB): c.3565C> T (p.Arg1189Ter) single nucleotide variant Pathogenic rs137852897 GRCh37 Chromosome 12, 102147187: 102147187
4 GNPTAB NM_024312.4(GNPTAB): c.2715+1G> A single nucleotide variant Pathogenic rs281865031 GRCh37 Chromosome 12, 102157979: 102157979
5 GNPTAB NM_024312.4(GNPTAB): c.2574_2575delGA (p.Asn859Glnfs) deletion Pathogenic rs281865029 GRCh37 Chromosome 12, 102158120: 102158121
6 GNPTAB NM_024312.4(GNPTAB): c.3503_3504delTC (p.Leu1168Glnfs) deletion Pathogenic rs34002892 GRCh37 Chromosome 12, 102147248: 102147249
7 GNPTAB NM_024312.4(GNPTAB): c.3335+6T> G single nucleotide variant Pathogenic rs34788341 GRCh37 Chromosome 12, 102151344: 102151344
8 GNPTAB NM_024312.4(GNPTAB): c.10A> C (p.Lys4Gln) single nucleotide variant Pathogenic rs34159654 GRCh37 Chromosome 12, 102224444: 102224444
9 GNPTAB NM_024312.4(GNPTAB): c.1120T> C (p.Phe374Leu) single nucleotide variant Pathogenic rs137852900 GRCh37 Chromosome 12, 102163963: 102163963
10 GNPTAB NM_024312.4(GNPTAB): c.1196C> T (p.Ser399Phe) single nucleotide variant Pathogenic rs281865026 GRCh37 Chromosome 12, 102163887: 102163887
11 GNPTAB NM_024312.4(GNPTAB): c.1985C> G (p.Ala662Gly) single nucleotide variant Pathogenic rs142172397 GRCh37 Chromosome 12, 102158710: 102158710
12 GNPTAB NM_024312.4(GNPTAB): c.3613C> T (p.Arg1205Ter) single nucleotide variant Pathogenic rs35333334 GRCh37 Chromosome 12, 102142959: 102142959
13 GNPTAB NM_024312.4(GNPTAB): c.1000C> T (p.Arg334Ter) single nucleotide variant Pathogenic rs281864969 GRCh37 Chromosome 12, 102164297: 102164297
14 GNPTAB NM_024312.4(GNPTAB): c.1001G> A (p.Arg334Gln) single nucleotide variant Pathogenic rs281864970 GRCh37 Chromosome 12, 102164296: 102164296
15 GNPTAB NM_024312.4(GNPTAB): c.1208T> C (p.Ile403Thr) single nucleotide variant Pathogenic rs281864973 GRCh37 Chromosome 12, 102163875: 102163875
16 GNPTAB NM_024312.4(GNPTAB): c.1285-2A> G single nucleotide variant Pathogenic rs281864974 GRCh37 Chromosome 12, 102161940: 102161940
17 GNPTAB NM_024312.4(GNPTAB): c.1325G> A (p.Cys442Tyr) single nucleotide variant Pathogenic rs281864975 GRCh37 Chromosome 12, 102161898: 102161898
18 GNPTAB NM_024312.4(GNPTAB): c.1385_1386insA (p.Asp462Glufs) insertion Pathogenic rs281864978 GRCh37 Chromosome 12, 102161838: 102161838
19 GNPTAB NM_024312.4(GNPTAB): c.1514G> A (p.Cys505Tyr) single nucleotide variant Pathogenic rs281864980 GRCh37 Chromosome 12, 102159967: 102159967
20 GNPTAB NM_024312.4(GNPTAB): c.168T> A (p.Tyr56Ter) single nucleotide variant Pathogenic rs281864950 GRCh37 Chromosome 12, 102190490: 102190490
21 GNPTAB NM_024312.4(GNPTAB): c.232_234delGTT (p.Val78del) deletion Pathogenic rs281864952 GRCh37 Chromosome 12, 102183805: 102183807
22 GNPTAB NM_024312.4(GNPTAB): c.242G> T (p.Trp81Leu) single nucleotide variant Pathogenic rs281864953 GRCh37 Chromosome 12, 102183797: 102183797
23 GNPTAB NM_024312.4(GNPTAB): c.2550_2554delGAAAA (p.Lys850Asnfs) deletion Pathogenic/Likely pathogenic rs281864996 GRCh37 Chromosome 12, 102158141: 102158145
24 GNPTAB NM_024312.4(GNPTAB): c.2693delA (p.Lys898Serfs) deletion Pathogenic rs281865000 GRCh37 Chromosome 12, 102158002: 102158002
25 GNPTAB NM_024312.4(GNPTAB): c.2715+2T> G single nucleotide variant Pathogenic rs281865001 GRCh37 Chromosome 12, 102157978: 102157978
26 GNPTAB NM_024312.4(GNPTAB): c.2777A> C (p.Gln926Pro) single nucleotide variant Pathogenic rs281865002 GRCh37 Chromosome 12, 102155480: 102155480
27 GNPTAB NM_024312.4(GNPTAB): c.2866C> T (p.His956Tyr) single nucleotide variant Pathogenic rs281865004 GRCh37 Chromosome 12, 102155391: 102155391
28 GNPTAB NM_024312.4(GNPTAB): c.2867A> G (p.His956Arg) single nucleotide variant Pathogenic rs281865005 GRCh37 Chromosome 12, 102155390: 102155390
29 GNPTAB NM_024312.4(GNPTAB): c.3443_3446delTTTG (p.Val1148Alafs) deletion Pathogenic rs281865018 GRCh37 Chromosome 12, 102147306: 102147309
30 GNPTAB NM_024312.4(GNPTAB): c.3458A> G (p.Asn1153Ser) single nucleotide variant Pathogenic rs281865019 GRCh37 Chromosome 12, 102147294: 102147294
31 GNPTAB NM_024312.4(GNPTAB): c.3741_3744delAGAA (p.Glu1248Leufs) deletion Pathogenic rs281865022 GRCh37 Chromosome 12, 102140969: 102140972
32 GNPTAB NM_024312.4(GNPTAB): c.44C> A (p.Ser15Tyr) single nucleotide variant Pathogenic rs281864947 GRCh37 Chromosome 12, 102224410: 102224410
33 GNPTAB NM_024312.4(GNPTAB): c.517_518insA (p.Pro173Hisfs) insertion Pathogenic rs281864957 GRCh37 Chromosome 12, 102179843: 102179844
34 GNPTAB NM_024312.4(GNPTAB): c.571+3A> C single nucleotide variant Pathogenic rs281864960 GRCh37 Chromosome 12, 102179787: 102179787
35 GNPTAB NM_024312.4(GNPTAB): c.1774G> A (p.Ala592Thr) single nucleotide variant Pathogenic rs149390820 GRCh37 Chromosome 12, 102158921: 102158921
36 GNPTAB NM_024312.4(GNPTAB): c.2354T> G (p.Leu785Trp) single nucleotide variant Pathogenic rs144060383 GRCh37 Chromosome 12, 102158341: 102158341
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.3449_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 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:

id 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:

id 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:

id 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:

id 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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