MCID: MCL062
MIFTS: 50

Mucolipidosis Ii Alpha/beta

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

Aliases & Classifications for Mucolipidosis Ii Alpha/beta

MalaCards integrated aliases for Mucolipidosis Ii Alpha/beta:

Name: Mucolipidosis Ii Alpha/beta 54 25 13
I-Cell Disease 25 56 71 52
Mucolipidosis Type Ii 25 56 71
Inclusion Cell Disease 25 71
Mucolipidosis Ii 25 29
Mlii 25 71
Deficiency of N-Acetylglucosamine-1-Phosphotransferase 29
N-Acetylglucosamine 1-Phosphotransferase Deficiency 56
Type Ii Mucolipidosis 69
Icd 71

Characteristics:

Orphanet epidemiological data:

56
mucolipidosis type ii
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Europe),<1/1000000 (Europe),1-9/1000000 (Portugal),1-9/1000000 (Netherlands),1-9/1000000 (Japan),1-9/100000 (Ireland),1-5/10000,<1/1000000 (Sweden); Age of onset: Neonatal; Age of death: infantile,stillbirth;

OMIM:

54
Inheritance:
autosomal recessive

Miscellaneous:
death in childhood
death often secondary to pneumonia or congestive heart failure
carrier rate of 1 in 39 in the saguenay-lac-saint-jean region of quebec


HPO:

32
mucolipidosis ii alpha/beta:
Mortality/Aging death in childhood
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Mucolipidosis Ii Alpha/beta

OMIM : 54
Mucolipidosis type II 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 more severe than the allelic disorder mucolipidosis type III alpha/beta (summary by Paik et al., 2005). (252500)

MalaCards based summary : Mucolipidosis Ii Alpha/beta, also known as i-cell disease, is related to inclusion-cell disease and pacman dysplasia, and has symptoms including short stature, failure to thrive and recurrent respiratory infections. An important gene associated with Mucolipidosis Ii Alpha/beta is GNPTAB (N-Acetylglucosamine-1-Phosphate Transferase Alpha And Beta Subunits), and among its related pathways/superpathways are Sphingolipid metabolism and Lysosome. The drug Krestin has been mentioned in the context of this disorder. Affiliated tissues include bone, heart and skin, and related phenotypes are behavior/neurological and cellular

UniProtKB/Swiss-Prot : 71 Mucolipidosis type II: Fatal, autosomal recessive, lysosomal storage disorder characterized by severe clinical and radiologic features, peculiar fibroblast inclusions, and no excessive mucopolysacchariduria. Congenital dislocation of the hip, thoracic deformities, hernia, and hyperplastic gums are evident soon after birth.

Genetics Home Reference : 25 Mucolipidosis II alpha/beta (also known as I-cell disease) is a progressively debilitating disorder that affects many parts of the body. Most affected individuals do not survive past early childhood.

Related Diseases for Mucolipidosis Ii Alpha/beta

Diseases in the Mucolipidosis Iv family:

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

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

(show all 32)
id Related Disease Score Top Affiliating Genes
1 inclusion-cell disease 11.4
2 pacman dysplasia 11.3
3 brugada syndrome 11.1
4 catecholaminergic polymorphic ventricular tachycardia 11.0
5 mucolipidosis iii alpha/beta 11.0
6 astrocytoma 10.7
7 choroid plexus papilloma 10.7
8 inflammatory bowel disease 8 10.6 GNPTAB GNPTG
9 intracranial thrombosis 10.5 GNPTAB GNPTG
10 geniculate herpes zoster 10.4 GNPTAB GNPTG
11 hemophagocytic lymphohistiocytosis, familial, 5 10.4 GM2A PSAP
12 atrioventricular septal defect 5 10.3 PSAP SMPD1
13 simpson-golabi-behmel syndrome 10.3 GNPTAB GNPTG
14 myopathy - thyrotoxic 10.3 ARSH GUSB
15 purpura 10.2 NEU1 PSAP
16 bone angioendothelial sarcoma 10.1 NEU1 PSAP
17 muscle disorders 10.1 ARSH NEU1
18 spina bifida occulta 10.0 GNPTAB GNPTG IGF2R PSAP
19 dysostosis 10.0 ADPRH PSAP SMPD1
20 microcephaly 16, primary, autosomal recessive 9.9 ARSH GUSB
21 tyrosinemia, type i 9.9 GM2A NEU1 PSAP
22 mitochondrial dna depletion syndrome 1 9.9 ARSH PSAP
23 neuronitis 9.7
24 thrombocytopenia 9.7
25 stuttering 9.7
26 rickets 9.7
27 cystinosis 9.7
28 hyperparathyroidism 9.7
29 microcephaly, amish type 9.7 ARSH GNPTAB M6PR
30 osteochondritis dissecans 9.6 M6PR PSAP SMPD1
31 malignant glioma 9.3 FUCA1 GUSB NEU1 SMPD1
32 leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism 5.6 ADPRH ARSH CTSB FUCA1 GM2A GNPTAB

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



Diseases related to Mucolipidosis Ii Alpha/beta

Symptoms & Phenotypes for Mucolipidosis Ii Alpha/beta

Symptoms via clinical synopsis from OMIM:

54

Head And Neck- Nose:
anteverted nostrils
low nasal bridge

Abdomen- External Features:
umbilical hernia
diastasis recti
abdominal protuberance

Abdomen- Liver:
hepatomegaly

Head And Neck- Face:
coarse facial features
long philtrum
high, narrow forehead

Skeletal- Pelvis:
hip dislocation
flared iliac wings
horizontal acetabular roofs
supra-acetabular constriction
irregular contours of pubis and ischium

Skeletal- Feet:
talipes equinovarus

Skeletal:
pathologic fractures
moderate joint limitation
osteopenia in early infancy

Respiratory- Lung:
recurrent pneumonia

Voice:
hoarse voice

Skin Nails & Hair- Skin:
cavernous hemangioma
thick, relatively tight skin

Skeletal- Hands:
claw-hand deformities
broadening of wrist
brachyphalangia
hypoplasia of carpal bones
conical bullet-shaped distal ends of phalanges

Growth- Height:
birth length less than normal
deceleration of linear growth during first year

Growth- Other:
progressive failure to thrive
hurler-like body configuration
marked growth retardation

Abdomen- Spleen:
minimal splenomegaly

Head And Neck- Mouth:
macroglossia
progressive alveolar ridge hypertrophy

Neurologic- Central Nervous System:
developmental delay
neonatal hypotonia
severe psychomotor retardation
myelopathy

Head And Neck- Eyes:
epicanthal folds
thin eyebrows
puffy eyelids
clear to faintly hazy corneas
increased corneal diameter
more
Cardiovascular- Heart:
cardiomegaly
hypertrophic cardiomyopathy
congestive heart failure
aortic insufficiency
cardiac murmur

Chest- Breasts:
widely spaced nipples

Genitourinary- External Genitalia Male:
inguinal hernia

Skeletal- Spine:
hypoplastic odontoid process
ovoid vertebral bodies
dorsolumbar kyphosis
atlantoaxial dislocation
narrowness of interpediculate distances in lower thoracic regions
more
Skeletal- Limbs:
widened metaphyses
cortical bone erosion (especially proximal femora)
long bone shortening
varus deformity of humeral neck
tilted distal ends of radius and ulna

Head And Neck- Ears:
recurrent episodes of otitis media
thick, firm earlobes

Respiratory- Airways:
recurrent bronchitis

Laboratory- Abnormalities:
increased serum beta-hexosaminidase (10-20x)
increased serum iduronate sulfatase (10-20x)
deficiency of n-acetylglucosamine-1-phosphotransferase
normal to mildly increased mucopolysacchariduria
increased serum arylsulfatase a (10-20x)
more
Growth- Weight:
birth weight less than normal

Chest- Ribs Sternum Clavicles And Scapulae:
scapular hypoplasia
broad, spatulate-appearing ribs

Skeletal- Skull:
thickened cranium
normal enlarged sella turcica


Clinical features from OMIM:

252500

Human phenotypes related to Mucolipidosis Ii Alpha/beta:

56 32 (show top 50) (show all 75)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short stature 56 32 hallmark (90%) Very frequent (99-80%) HP:0004322
2 failure to thrive 56 32 hallmark (90%) Very frequent (99-80%) HP:0001508
3 recurrent respiratory infections 56 32 occasional (7.5%) Occasional (29-5%) HP:0002205
4 hepatomegaly 56 32 hallmark (90%) Very frequent (99-80%) HP:0002240
5 splenomegaly 56 32 hallmark (90%) Very frequent (99-80%) HP:0001744
6 depressed nasal bridge 56 32 frequent (33%) Frequent (79-30%) HP:0005280
7 coarse facial features 56 32 hallmark (90%) Very frequent (99-80%) HP:0000280
8 hernia 56 32 hallmark (90%) Very frequent (99-80%) HP:0100790
9 kyphosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0002808
10 megalocornea 56 32 occasional (7.5%) Occasional (29-5%) HP:0000485
11 anteverted nares 56 32 frequent (33%) Frequent (79-30%) HP:0000463
12 thin skin 56 32 frequent (33%) Frequent (79-30%) HP:0000963
13 long philtrum 56 32 frequent (33%) Frequent (79-30%) HP:0000343
14 carpal bone hypoplasia 56 32 occasional (7.5%) Occasional (29-5%) HP:0001498
15 congestive heart failure 56 32 occasional (7.5%) Occasional (29-5%) HP:0001635
16 epicanthus 56 32 frequent (33%) Frequent (79-30%) HP:0000286
17 weight loss 56 32 occasional (7.5%) Occasional (29-5%) HP:0001824
18 broad alveolar ridges 56 32 occasional (7.5%) Occasional (29-5%) HP:0000187
19 cavernous hemangioma 56 32 occasional (7.5%) Occasional (29-5%) HP:0001048
20 generalized hirsutism 56 32 hallmark (90%) Very frequent (99-80%) HP:0002230
21 progressive alveolar ridge hypertropy 56 32 occasional (7.5%) Occasional (29-5%) HP:0009092
22 corneal dystrophy 56 32 occasional (7.5%) Occasional (29-5%) HP:0001131
23 mucopolysacchariduria 56 32 hallmark (90%) Very frequent (99-80%) HP:0008155
24 abnormality of the heart valves 56 32 occasional (7.5%) Occasional (29-5%) HP:0001654
25 opacification of the corneal stroma 56 32 occasional (7.5%) Occasional (29-5%) HP:0007759
26 abnormality of the thorax 56 32 hallmark (90%) Very frequent (99-80%) HP:0000765
27 short long bone 56 32 hallmark (90%) Very frequent (99-80%) HP:0003026
28 severe global developmental delay 56 32 hallmark (90%) Very frequent (99-80%) HP:0011344
29 abnormality of nervous system morphology 56 32 hallmark (90%) Very frequent (99-80%) HP:0012639
30 lack of skin elasticity 56 32 frequent (33%) Frequent (79-30%) HP:0100679
31 corneal erosion 56 32 hallmark (90%) Very frequent (99-80%) HP:0200020
32 macroglossia 32 HP:0000158
33 umbilical hernia 32 HP:0001537
34 high forehead 32 HP:0000348
35 cardiomegaly 32 HP:0001640
36 hip dislocation 32 HP:0002827
37 hypertrophic cardiomyopathy 32 HP:0001639
38 neonatal hypotonia 32 HP:0001319
39 talipes equinovarus 32 HP:0001762
40 hypoplastic scapulae 32 HP:0000882
41 inguinal hernia 32 HP:0000023
42 protuberant abdomen 32 HP:0001538
43 osteopenia 32 HP:0000938
44 flared iliac wings 32 HP:0002869
45 narrow forehead 32 HP:0000341
46 diastasis recti 32 HP:0001540
47 flat acetabular roof 32 HP:0003180
48 recurrent pneumonia 32 HP:0006532
49 metaphyseal widening 32 HP:0003016
50 ovoid vertebral bodies 32 HP:0003300

MGI Mouse Phenotypes related to Mucolipidosis Ii Alpha/beta:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.91 NEU1 PSAP SMPD1 CTSB GM2A GNPTAB
2 cellular MP:0005384 9.76 CTSB GNPTAB GUSB IGF2R M6PR NEU1
3 homeostasis/metabolism MP:0005376 9.61 CTSB GNPTAB GNPTG GUSB IGF2R M6PR
4 renal/urinary system MP:0005367 9.17 CTSB GNPTAB GUSB IGF2R M6PR NEU1

Drugs & Therapeutics for Mucolipidosis Ii Alpha/beta

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


id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Krestin

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Longitudinal Studies of the Glycoproteinoses Recruiting NCT01891422

Search NIH Clinical Center for Mucolipidosis Ii Alpha/beta

Genetic Tests for Mucolipidosis Ii Alpha/beta

Genetic tests related to Mucolipidosis Ii Alpha/beta:

id Genetic test Affiliating Genes
1 Mucolipidosis Ii 29 24 GNPTAB
2 Deficiency of N-Acetylglucosamine-1-Phosphotransferase 29

Anatomical Context for Mucolipidosis Ii Alpha/beta

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

39
Bone, Heart, Skin

Publications for Mucolipidosis Ii Alpha/beta

Articles related to Mucolipidosis Ii Alpha/beta:

id Title Authors Year
1
I Cell Disease (Mucolipidosis II Alpha/Beta): From Screening to Molecular Diagnosis. ( 27785713 )
2017
2
Clinical and laboratory outcomes after umbilical cord blood transplantation in a patient with mucolipidosis II alpha/beta. ( 26789537 )
2016
3
Pitfalls in the prenatal diagnosis of mucolipidosis II alpha/beta: A case report. ( 25606425 )
2014
4
Two homozygous nonsense mutations of GNPTAB gene in two Chinese families with mucolipidosis II alpha/beta using targeted next-generation sequencing. ( 23773965 )
2013

Variations for Mucolipidosis Ii Alpha/beta

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

71
id Symbol AA change Variation ID SNP ID
1 GNPTAB p.Lys1236Met VAR_027511
2 GNPTAB p.Phe374Leu VAR_062807 rs137852900
3 GNPTAB p.Leu1001Pro VAR_062814 rs281865006
4 GNPTAB p.Trp81Leu VAR_070831 rs281864953
5 GNPTAB p.Lys732Asn VAR_070833 rs281864989
6 GNPTAB p.Arg986Cys VAR_070834 rs769587233
7 GNPTAB p.Arg334Leu VAR_073127 rs281864970

ClinVar genetic disease variations for Mucolipidosis Ii Alpha/beta:

6 (show top 50) (show all 116)
id Gene Variation Type Significance SNP ID Assembly Location
1 GNPTAB NM_024312.4(GNPTAB): c.310C> T (p.Gln104Ter) single nucleotide variant Pathogenic rs137852896 GRCh37 Chromosome 12, 102183729: 102183729
2 GNPTAB NM_024312.4(GNPTAB): c.3565C> T (p.Arg1189Ter) single nucleotide variant Pathogenic rs137852897 GRCh37 Chromosome 12, 102147187: 102147187
3 GNPTAB NM_024312.4(GNPTAB): c.3173C> G (p.Ser1058Ter) single nucleotide variant Pathogenic rs137852898 GRCh37 Chromosome 12, 102153884: 102153884
4 GNPTAB NM_024312.4(GNPTAB): c.3474_3475delTA (p.His1158Glnfs) deletion Pathogenic rs281865038 GRCh37 Chromosome 12, 102147277: 102147278
5 GNPTAB NM_024312.4(GNPTAB): c.2681G> A (p.Trp894Ter) single nucleotide variant Pathogenic rs137852899 GRCh37 Chromosome 12, 102158014: 102158014
6 GNPTAB NM_024312.4(GNPTAB): c.1625_1626insC (p.Glu542Aspfs) insertion Pathogenic rs281865027 GRCh37 Chromosome 12, 102159069: 102159070
7 GNPTAB NM_024312.4(GNPTAB): c.3503_3504delTC (p.Leu1168Glnfs) deletion Pathogenic rs34002892 GRCh37 Chromosome 12, 102147248: 102147249
8 GNPTAB NM_024312.4(GNPTAB): c.3335+1G> A single nucleotide variant Pathogenic rs34940801 GRCh37 Chromosome 12, 102151349: 102151349
9 GNPTAB NM_024312.4(GNPTAB): c.3335+6T> G single nucleotide variant Pathogenic rs34788341 GRCh37 Chromosome 12, 102151344: 102151344
10 GNPTAB NM_024312.4(GNPTAB): c.1120T> C (p.Phe374Leu) single nucleotide variant Pathogenic rs137852900 GRCh37 Chromosome 12, 102163963: 102163963
11 GNPTAB NM_024312.4(GNPTAB): c.118-2A> G single nucleotide variant Pathogenic rs281865023 GRCh37 Chromosome 12, 102190542: 102190542
12 GNPTAB NM_024312.4(GNPTAB): c.1580delC (p.Cys528Valfs) deletion Pathogenic rs36007394 GRCh37 Chromosome 12, 102159901: 102159901
13 GNPTAB NM_024312.4(GNPTAB): c.1738_1741[3] (p.Ser581Ilefs) short repeat Pathogenic rs397507443 GRCh37 Chromosome 12, 102158954: 102158957
14 GNPTAB NM_024312.4(GNPTAB): c.2188delTinsAAA (p.Leu730Lysfs) indel Pathogenic rs34161232 GRCh37 Chromosome 12, 102158507: 102158507
15 GNPTAB NM_024312.4(GNPTAB): c.2533C> T (p.Gln845Ter) single nucleotide variant Pathogenic rs281865028 GRCh37 Chromosome 12, 102158162: 102158162
16 GNPTAB NM_024312.4(GNPTAB): c.2659dupA (p.Ser887Lysfs) duplication Pathogenic rs281865030 GRCh37 Chromosome 12, 102158036: 102158036
17 GNPTAB NM_024312.4(GNPTAB): c.2916_2917insT (p.Glu975Terfs) insertion Pathogenic rs281865032 GRCh37 Chromosome 12, 102155123: 102155123
18 GNPTAB NM_024312.4(GNPTAB): c.3145_3146insC (p.Gly1049Alafs) insertion Pathogenic rs281865033 GRCh37 Chromosome 12, 102153911: 102153912
19 GNPTAB NM_024312.4(GNPTAB): c.3231_3234dupCTAC (p.Tyr1079Leufs) duplication Pathogenic rs34256381 GRCh37 Chromosome 12, 102153823: 102153826
20 GNPTAB NM_024312.4(GNPTAB): c.3249+1G> A single nucleotide variant Pathogenic rs281865012 GRCh37 Chromosome 12, 102153807: 102153807
21 GNPTAB NM_024312.4(GNPTAB): c.3252delA (p.Pro1085Argfs) deletion Pathogenic rs281865035 GRCh37 Chromosome 12, 102151433: 102151433
22 GNPTAB NM_024312.4(GNPTAB): c.3434+1G> A single nucleotide variant Pathogenic rs281865036 GRCh37 Chromosome 12, 102150989: 102150989
23 GNPTAB NM_024312.4(GNPTAB): c.3566_3567insA (p.Asn1190Lysfs) insertion Pathogenic rs281865039 GRCh37 Chromosome 12, 102147185: 102147185
24 GNPTAB NM_024312.4(GNPTAB): c.3613C> T (p.Arg1205Ter) single nucleotide variant Pathogenic rs35333334 GRCh37 Chromosome 12, 102142959: 102142959
25 GNPTAB NM_024312.4(GNPTAB): c.555_556ins296 (p.?) insertion Pathogenic GRCh37 Chromosome 12, 102179805: 102179806
26 GNPTAB NM_024312.4(GNPTAB): c.616_619delACAG (p.Thr206Tyrfs) deletion Pathogenic rs281865024 GRCh37 Chromosome 12, 102174352: 102174355
27 GNPTAB NM_024312.4(GNPTAB): c.848delA (p.Thr284Leufs) deletion Pathogenic rs34517004 GRCh37 Chromosome 12, 102164859: 102164859
28 GNPTAB NM_024312.4(GNPTAB): c.1381T> G (p.Cys461Gly) single nucleotide variant Pathogenic rs281864977 GRCh37 Chromosome 12, 102161842: 102161842
29 GNPTAB NM_024312.4(GNPTAB): c.1000C> T (p.Arg334Ter) single nucleotide variant Pathogenic rs281864969 GRCh37 Chromosome 12, 102164297: 102164297
30 GNPTAB NM_024312.4(GNPTAB): c.1001G> T (p.Arg334Leu) single nucleotide variant Pathogenic rs281864970 GRCh37 Chromosome 12, 102164296: 102164296
31 GNPTAB NM_024312.4(GNPTAB): c.1090C> T (p.Arg364Ter) single nucleotide variant Pathogenic rs200646278 GRCh37 Chromosome 12, 102164207: 102164207
32 GNPTAB NM_024312.4(GNPTAB): c.1123C> T (p.Arg375Ter) single nucleotide variant Pathogenic rs397507447 GRCh37 Chromosome 12, 102163960: 102163960
33 GNPTAB NM_024312.4(GNPTAB): c.118-?_203+?dup86 duplication Pathogenic GRCh37 Chromosome 12, 102190455: 102190540
34 GNPTAB NM_024312.4(GNPTAB): c.1191_1194dupGCTG (p.Ser399Alafs) duplication Pathogenic rs281864971 GRCh37 Chromosome 12, 102163889: 102163892
35 GNPTAB NM_024312.4(GNPTAB): c.1206dupT (p.Ile403Tyrfs) duplication Pathogenic rs281864972 GRCh37 Chromosome 12, 102163877: 102163877
36 GNPTAB NM_024312.4(GNPTAB): c.121delG (p.Val41Phefs) deletion Pathogenic rs281864948 GRCh37 Chromosome 12, 102190537: 102190537
37 GNPTAB NM_024312.4(GNPTAB): c.1331dupG (p.Ser445Phefs) duplication Pathogenic rs281864976 GRCh37 Chromosome 12, 102161892: 102161892
38 GNPTAB NM_024312.4(GNPTAB): c.136C> T (p.Arg46Ter) single nucleotide variant Pathogenic rs78347057 GRCh37 Chromosome 12, 102190522: 102190522
39 GNPTAB NM_024312.4(GNPTAB): c.1399delG (p.Asp467Ilefs) deletion Pathogenic rs397507448 GRCh37 Chromosome 12, 102161824: 102161824
40 GNPTAB NM_024312.4(GNPTAB): c.1519C> T (p.Gln507Ter) single nucleotide variant Pathogenic rs281864981 GRCh37 Chromosome 12, 102159962: 102159962
41 GNPTAB NM_024312.4(GNPTAB): c.163_164insT (p.Ser55Phefs) insertion Pathogenic rs281864949 GRCh37 Chromosome 12, 102190495: 102190495
42 GNPTAB NM_024312.4(GNPTAB): c.171delA (p.Asp58Thrfs) deletion Pathogenic rs281864951 GRCh37 Chromosome 12, 102190487: 102190487
43 GNPTAB NM_024312.4(GNPTAB): c.1759C> T (p.Arg587Ter) single nucleotide variant Pathogenic rs281864982 GRCh37 Chromosome 12, 102158936: 102158936
44 GNPTAB NM_024312.4(GNPTAB): c.1959_1962delTAGT (p.Ser654Profs) deletion Pathogenic rs281864983 GRCh37 Chromosome 12, 102158733: 102158736
45 GNPTAB NM_024312.4(GNPTAB): c.1965delC (p.Ile656Terfs) deletion Pathogenic rs281864984 GRCh37 Chromosome 12, 102158730: 102158730
46 GNPTAB NM_024312.4(GNPTAB): c.1999G> T (p.Glu667Ter) single nucleotide variant Pathogenic rs281864985 GRCh37 Chromosome 12, 102158696: 102158696
47 GNPTAB NM_024312.4(GNPTAB): c.1999_2000insT (p.Glu667Valfs) insertion Pathogenic rs281864986 GRCh37 Chromosome 12, 102158695: 102158696
48 GNPTAB NM_024312.4(GNPTAB): c.2089_2090insC (p.Leu697Profs) insertion Pathogenic rs281864987 GRCh37 Chromosome 12, 102158606: 102158606
49 GNPTAB NM_024312.4(GNPTAB): c.2196G> T (p.Lys732Asn) single nucleotide variant Pathogenic rs281864989 GRCh37 Chromosome 12, 102158499: 102158499
50 GNPTAB NM_024312.4(GNPTAB): c.2220_2221dupGA (p.Met741Argfs) duplication Pathogenic rs281864990 GRCh37 Chromosome 12, 102158474: 102158475

Copy number variations for Mucolipidosis Ii Alpha/beta from CNVD:

7
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 61684 12 100663407 100748763 Microduplication or deletion GNPTAB Mucolipidosis types II

Expression for Mucolipidosis Ii Alpha/beta

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

Pathways for Mucolipidosis Ii Alpha/beta

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

id Super pathways Score Top Affiliating Genes
1
Show member pathways
11.76 ARSH GM2A NEU1 PSAP SMPD1
2 11.45 CTSB FUCA1 GM2A GNPTAB GNPTG GUSB
3 10.95 IGF2R M6PR
4 10.41 FUCA1 NEU1

GO Terms for Mucolipidosis Ii Alpha/beta

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

id Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.86 CTSB FUCA1 GM2A GNPTG GUSB NEU1
2 extracellular exosome GO:0070062 9.81 CTSB FUCA1 GM2A GNPTG GUSB IGF2R
3 intracellular membrane-bounded organelle GO:0043231 9.8 CTSB GNPTG GUSB NEU1 PSAP
4 lysosomal membrane GO:0005765 9.67 IGF2R M6PR NEU1 PSAP
5 azurophil granule lumen GO:0035578 9.5 FUCA1 GM2A GUSB
6 clathrin-coated vesicle membrane GO:0030665 9.43 IGF2R M6PR
7 lysosomal lumen GO:0043202 9.43 FUCA1 GM2A GUSB NEU1 PSAP SMPD1
8 lysosome GO:0005764 9.28 CTSB FUCA1 GM2A GUSB IGF2R M6PR

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

(show all 11)
id Name GO ID Score Top Affiliating Genes
1 metabolic process GO:0008152 9.77 ARSH FUCA1 GUSB NEU1 SMPD1
2 carbohydrate metabolic process GO:0005975 9.67 FUCA1 GUSB NEU1
3 neutrophil degranulation GO:0043312 9.5 CTSB FUCA1 GM2A GUSB IGF2R NEU1
4 sphingolipid metabolic process GO:0006665 9.48 GM2A PSAP
5 glycosaminoglycan catabolic process GO:0006027 9.46 FUCA1 GUSB
6 carbohydrate phosphorylation GO:0046835 9.43 GNPTAB GNPTG
7 oligosaccharide catabolic process GO:0009313 9.4 GM2A NEU1
8 ganglioside catabolic process GO:0006689 9.32 GM2A NEU1
9 secretion of lysosomal enzymes GO:0033299 9.26 GNPTAB M6PR
10 N-glycan processing to lysosome GO:0016256 9.16 GNPTAB GNPTG
11 glycosphingolipid metabolic process GO:0006687 9.02 ARSH GM2A NEU1 PSAP SMPD1

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

id Name GO ID Score Top Affiliating Genes
1 hydrolase activity GO:0016787 9.56 ADPRH ARSH CTSB FUCA1 GM2A GUSB
2 mannose binding GO:0005537 9.26 IGF2R M6PR
3 UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity GO:0003976 9.16 GNPTAB GNPTG
4 hydrolase activity, acting on glycosyl bonds GO:0016798 8.92 FUCA1 GUSB NEU1 SMPD1

Sources for Mucolipidosis Ii Alpha/beta

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
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