MLII
MCID: MCL062
MIFTS: 66

Mucolipidosis Ii Alpha/beta (MLII)

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 Ii Alpha/beta

MalaCards integrated aliases for Mucolipidosis Ii Alpha/beta:

Name: Mucolipidosis Ii Alpha/beta 57 24 25 13
I-Cell Disease 57 24 25 59 75 55
Inclusion Cell Disease 24 53 25 75
Mucolipidosis Ii 57 24 25 37
I Cell Disease 76 53 29 6
Mucolipidosis Type Ii 25 59 75
Icd 57 53 75
Ml Ii Alpha/beta 57 24
Mucolipidosis 2 53 73
Ml Ii 57 24
Mlii 25 75
Deficiency of N-Acetylglucosamine-1-Phosphotransferase 29
N-Acetylglucosamine 1-Phosphotransferase Deficiency 59
N-Acetylglucosamine 1phosphotransferase Deficiency 53
Mucolipidosis, Type Ii, Alpha/beta ) 40
Mucolipidosis Type Ii Alpha/beta 59
Mucolipidosis Ii; Ml Ii 57
Mucolipidosis, Type Ii 6
Type Ii Mucolipidosis 73
I-Cell Disease; Icd 57
Ml Disorder Type 2 53
Leroy Disease 53
Gnpta 53
Ml 2 53

Characteristics:

Orphanet epidemiological data:

59
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:

57
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

NIH Rare Diseases : 53 Mucolipidosis II (ML II), also known as I cell disease, is a rare and progressive metabolic disorder that involves our body�??s ability to break down certain fats (mucolipids). Symptoms typically present in infancy or early childhood and include weak muscle tone (hypotonia), developmental delay, limited mobility, clubfeet, thickened skin, and short hands and fingers. ML II can also cause heart valve abnormalities and repeated respiratory infections. This reduces the individual�??s ability to breathe effectively and typically results in death by early adolescence. ML II is caused by mutation in the GNPTAB gene, and is inherited in an autosomal recessive manner. ML II is diagnosed by testing the blood or urine for high levels of mucolipids, and the diagnosis can be confirmed by genetic testing. Treatment is based on relieving the signs and symptoms in each person, but early research into possible genetic therapies is promising.

MalaCards based summary : Mucolipidosis Ii Alpha/beta, also known as i-cell disease, is related to inclusion-cell disease and stuttering. An important gene associated with Mucolipidosis Ii Alpha/beta is GNPTAB (N-Acetylglucosamine-1-Phosphate Transferase Subunits Alpha And Beta), and among its related pathways/superpathways are Lysosome and Sphingolipid metabolism. Affiliated tissues include skin, heart and bone, and related phenotypes are failure to thrive and kyphosis

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.

OMIM : 57 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)

UniProtKB/Swiss-Prot : 75 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.

Wikipedia : 76 Inclusion-cell (I-cell) disease, also referred to as mucolipidosis II (ML II), is part of the lysosomal... more...

GeneReviews: NBK1828

Related Diseases for Mucolipidosis Ii Alpha/beta

Diseases in the Mucolipidosis Iv family:

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

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

(show top 50) (show all 161)
# Related Disease Score Top Affiliating Genes
1 inclusion-cell disease 32.2 GNPTAB GNPTG IGF2R PSAP
2 stuttering 30.1 GNPTAB GNPTG
3 mucolipidosis iii alpha/beta 29.9 FUCA1 GNPTAB GNPTG GUSB
4 mucopolysaccharidoses 29.6 ARSH GUSB
5 brugada syndrome 11.3
6 catecholaminergic polymorphic ventricular tachycardia 11.3
7 cardiac arrest 11.3
8 paraphilia disorder 11.3
9 mucolipidosis iii gamma 11.2
10 mucolipidoses 11.2
11 reactive arthritis 11.1
12 carcinoid tumors, intestinal 11.0
13 cardiomyopathy, familial hypertrophic, 1 11.0
14 papilloma of choroid plexus 11.0
15 meningioma, radiation-induced 11.0
16 meningioma, familial 11.0
17 myofibrillar myopathy 11.0
18 impulse control disorder 11.0
19 antisocial personality disorder 11.0
20 spinal meningioma 11.0
21 hypertensive heart disease 11.0
22 personality disorder 11.0
23 sex cord-gonadal stromal tumor 11.0
24 adenofibroma 11.0
25 allergic contact dermatitis 11.0
26 astrocytoma 11.0
27 mood disorder 11.0
28 cutaneous fibrous histiocytoma 11.0
29 leiomyomatosis 11.0
30 carcinoid syndrome 11.0
31 cardiac conduction defect 10.4
32 articulation disorder 10.2 GNPTAB GNPTG
33 hyperparathyroidism 10.2
34 long qt syndrome 10.2
35 speech disorder 10.2 GNPTAB GNPTG
36 hypertrophic cardiomyopathy 10.2
37 mucolipidosis iv 10.1 GM2A PSAP
38 ventricular fibrillation, paroxysmal familial, 1 10.1
39 dilated cardiomyopathy 10.1
40 niemann-pick disease, type c1 10.1 PSAP SMPD1
41 niemann-pick disease 10.1 PSAP SMPD1
42 arrhythmogenic right ventricular cardiomyopathy 10.1
43 heart disease 10.1
44 mucopolysaccharidosis, type vi 10.1 ARSH GUSB
45 neuraminidase deficiency 10.0 NEU1 PSAP
46 glycoproteinosis 10.0 NEU1 PSAP
47 craniosynostosis 10.0
48 mannosidosis 10.0
49 rickets 10.0
50 myocardial infarction 10.0

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:

57
Genitourinary External Genitalia Male:
inguinal hernia

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

Abdomen External Features:
umbilical hernia
diastasis recti
abdominal protuberance

Cardiovascular Heart:
cardiomegaly
hypertrophic cardiomyopathy
congestive heart failure
aortic insufficiency
cardiac murmur

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

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

Voice:
hoarse voice

Head And Neck Nose:
anteverted nostrils
low nasal bridge

Skeletal:
pathologic fractures
moderate joint limitation
osteopenia in early infancy

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

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

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

Head And Neck Mouth:
macroglossia
progressive alveolar ridge hypertrophy

Abdomen Liver:
hepatomegaly

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

Skeletal Spine:
ovoid vertebral bodies
hypoplastic odontoid process
atlantoaxial dislocation
dorsolumbar kyphosis
narrowness of interpediculate distances in lower thoracic regions
more
Skeletal Feet:
talipes equinovarus

Respiratory Lung:
recurrent pneumonia

Respiratory Airways:
recurrent bronchitis

Head And Neck Eyes:
epicanthal folds
puffy eyelids
increased corneal diameter
thin eyebrows
clear to faintly hazy corneas
more
Chest Breasts:
widely spaced nipples

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

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

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

Clinical features from OMIM:

252500

Human phenotypes related to Mucolipidosis Ii Alpha/beta:

59 32 (show top 50) (show all 77)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 failure to thrive 59 32 hallmark (90%) Very frequent (99-80%) HP:0001508
2 kyphosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002808
3 coarse facial features 59 32 hallmark (90%) Very frequent (99-80%) HP:0000280
4 splenomegaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0001744
5 recurrent respiratory infections 59 32 occasional (7.5%) Occasional (29-5%) HP:0002205
6 hepatomegaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0002240
7 depressed nasal bridge 59 32 frequent (33%) Frequent (79-30%) HP:0005280
8 anteverted nares 59 32 frequent (33%) Frequent (79-30%) HP:0000463
9 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
10 mucopolysacchariduria 59 32 hallmark (90%) Very frequent (99-80%) HP:0008155
11 long philtrum 59 32 frequent (33%) Frequent (79-30%) HP:0000343
12 weight loss 59 32 occasional (7.5%) Occasional (29-5%) HP:0001824
13 opacification of the corneal stroma 59 32 occasional (7.5%) Occasional (29-5%) HP:0007759
14 hernia 59 32 hallmark (90%) Very frequent (99-80%) HP:0100790
15 broad alveolar ridges 59 32 occasional (7.5%) Occasional (29-5%) HP:0000187
16 epicanthus 59 32 frequent (33%) Frequent (79-30%) HP:0000286
17 megalocornea 59 32 occasional (7.5%) Occasional (29-5%) HP:0000485
18 abnormality of the thorax 59 32 hallmark (90%) Very frequent (99-80%) HP:0000765
19 thin skin 59 32 frequent (33%) Frequent (79-30%) HP:0000963
20 cavernous hemangioma 59 32 occasional (7.5%) Occasional (29-5%) HP:0001048
21 corneal dystrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0001131
22 carpal bone hypoplasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001498
23 congestive heart failure 59 32 occasional (7.5%) Occasional (29-5%) HP:0001635
24 generalized hirsutism 59 32 hallmark (90%) Very frequent (99-80%) HP:0002230
25 short long bone 59 32 hallmark (90%) Very frequent (99-80%) HP:0003026
26 progressive alveolar ridge hypertropy 59 32 occasional (7.5%) Occasional (29-5%) HP:0009092
27 severe global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0011344
28 abnormality of nervous system morphology 59 32 hallmark (90%) Very frequent (99-80%) HP:0012639
29 lack of skin elasticity 59 32 frequent (33%) Frequent (79-30%) HP:0100679
30 corneal erosion 59 32 hallmark (90%) Very frequent (99-80%) HP:0200020
31 osteopenia 32 HP:0000938
32 inguinal hernia 32 HP:0000023
33 macroglossia 32 HP:0000158
34 global developmental delay 32 HP:0001263
35 umbilical hernia 32 HP:0001537
36 thickened calvaria 32 HP:0002684
37 neonatal hypotonia 32 HP:0001319
38 cardiomegaly 32 HP:0001640
39 hypertrophic cardiomyopathy 32 HP:0001639
40 abnormality of the heart valves 59 Occasional (29-5%)
41 ovoid vertebral bodies 32 HP:0003300
42 pathologic fracture 32 HP:0002756
43 wide intermamillary distance 32 HP:0006610
44 recurrent otitis media 32 HP:0000403
45 palpebral edema 32 HP:0100540
46 talipes equinovarus 32 HP:0001762
47 hip dislocation 32 HP:0002827
48 recurrent pneumonia 32 HP:0006532
49 split hand 32 HP:0001171
50 high forehead 32 HP:0000348

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

26 (show all 18)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-100 9.62 SMPD1
2 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.62 CTSB
3 Increased shRNA abundance (Z-score > 2) GR00366-A-106 9.62 SMPD1
4 Increased shRNA abundance (Z-score > 2) GR00366-A-114 9.62 M6PR
5 Increased shRNA abundance (Z-score > 2) GR00366-A-118 9.62 CTSB
6 Increased shRNA abundance (Z-score > 2) GR00366-A-122 9.62 SMPD1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-13 9.62 CTSB
8 Increased shRNA abundance (Z-score > 2) GR00366-A-168 9.62 CTSB
9 Increased shRNA abundance (Z-score > 2) GR00366-A-170 9.62 M6PR
10 Increased shRNA abundance (Z-score > 2) GR00366-A-177 9.62 SMPD1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-194 9.62 CTSB M6PR SMPD1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-25 9.62 CTSB
13 Increased shRNA abundance (Z-score > 2) GR00366-A-35 9.62 M6PR
14 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.62 SMPD1
15 Increased shRNA abundance (Z-score > 2) GR00366-A-67 9.62 M6PR
16 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.62 SMPD1
17 Increased shRNA abundance (Z-score > 2) GR00366-A-97 9.62 M6PR
18 Increased shRNA abundance (Z-score > 2) GR00366-A-99 9.62 M6PR

MGI Mouse Phenotypes related to Mucolipidosis Ii Alpha/beta:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.07 CTSB FUCA1 GM2A GNPTAB GUSB IGF2R
2 cellular MP:0005384 9.97 CTSB FUCA1 GNPTAB GUSB IGF2R M6PR
3 growth/size/body region MP:0005378 9.86 CTSB GNPTAB GUSB IGF2R M6PR NEU1
4 homeostasis/metabolism MP:0005376 9.85 CTSB FUCA1 GNPTAB GNPTG GUSB IGF2R
5 nervous system MP:0003631 9.56 CTSB FUCA1 GM2A GNPTAB IGF2R NEU1
6 renal/urinary system MP:0005367 9.23 CTSB FUCA1 GNPTAB GUSB IGF2R M6PR

Drugs & Therapeutics for Mucolipidosis Ii Alpha/beta

Search Clinical Trials , NIH Clinical Center for Mucolipidosis Ii Alpha/beta

Genetic Tests for Mucolipidosis Ii Alpha/beta

Genetic tests related to Mucolipidosis Ii Alpha/beta:

# Genetic test Affiliating Genes
1 I Cell Disease 29 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:

41
Skin, Heart, Bone, Testes, Liver, Kidney, Spinal Cord

Publications for Mucolipidosis Ii Alpha/beta

Articles related to Mucolipidosis Ii Alpha/beta:

(show top 50) (show all 200)
# Title Authors Year
1
Challenges in Diagnosing Rare Genetic Causes of Common In Utero Presentations: Report of Two Patients with Mucolipidosis Type II (I-Cell Disease). ( 30105123 )
2018
2
I-Cell Disease (Mucolipidosis II): A Case Series from a Tertiary Paediatric Centre Reviewing the Airway and Respiratory Consequences of the Disease. ( 30209781 )
2018
3
B-cell-specific accumulation of inclusion bodies loaded with HLA class II molecules in patients with mucolipidosis II (I-cell disease). ( 30464332 )
2018
4
I Cell Disease (Mucolipidosis II Alpha/Beta): From Screening to Molecular Diagnosis. ( 27785713 )
2017
5
Progression of Polysomnographic Abnormalities in Mucolipidosis II (I-Cell Disease). ( 27707435 )
2016
6
Clinical and laboratory outcomes after umbilical cord blood transplantation in a patient with mucolipidosis II alpha/beta. ( 26789537 )
2016
7
Musculoskeletal/Radiological Manifestations of Mucolipidosis II (I-Cell disease) in late Adolescence/Early Adulthood. ( 29073299 )
2016
8
A case of I-cell disease (mucolipidosis II) presenting with short femurs on prenatal ultrasound and profound diaphyseal cloaking. ( 30459979 )
2016
9
Airway management considerations in children with I-cell disease. ( 25818347 )
2015
10
Pitfalls in the prenatal diagnosis of mucolipidosis II alpha/beta: A case report. ( 25606425 )
2014
11
Craniosynostosis in a child with I-cell disease: The need for genetic analysis before contemplating surgery in craniosynostosis. ( 24891900 )
2014
12
Outcomes after hematopoietic stem cell transplantation for children with I-cell disease. ( 25016194 )
2014
13
Two homozygous nonsense mutations of GNPTAB gene in two Chinese families with mucolipidosis II alpha/beta using targeted next-generation sequencing. ( 23773965 )
2013
14
Mucolipidosis type II (I-cell disease) masquerading as rickets: two case reports and review of literature. ( 22570975 )
2012
15
Hypoyelination in I-cell disease; MRI, MR spectroscopy and neuropathological correlation. ( 22269149 )
2012
16
Anesthesia for gingivectomy and dental extractions in a child with I-cell disease--a case report. ( 21991745 )
2011
17
Blueberry muffin rash and thrombocytopenia in a newborn with mucolipidosis type II (I-cell disease) masquerading as congenital infections. ( 21959079 )
2011
18
Prenatal transient alveolomaxillary defect in a case of mucolipidosis II (I-cell disease). ( 20205156 )
2010
19
Difficult intubation management in a child with I-cell disease. ( 20927271 )
2010
20
I-Cell Disease (Mucolipidosis II) Presenting as Neonatal Fractures: A Case for Continued Monitoring of Serum Parathyroid Hormone Levels. ( 24790368 )
2008
21
Cytochemical analysis of storage materials in cultured skin fibroblasts from patients with I-cell disease. ( 17204262 )
2007
22
Short femurs detected at 25 and 31 weeks of gestation diagnosed as Leroy I-cell disease in the postnatal period: a report of two cases. ( 17228159 )
2007
23
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
24
Mucolipidosis II (I - cell disease). ( 16333203 )
2005
25
Rickets-like radiological and biochemical features of neonatal mucolipidosis II (I-cell disease): report of two cases. ( 16363350 )
2005
26
Prenatal mucolipidosis type II (I-cell disease) can present as Pacman dysplasia. ( 15887289 )
2005
27
Surgical treatment of marked mitral valvar deformity combined with I-cell disease 'Mucolipidosis II'. ( 16164792 )
2005
28
Mannose 6-phosphorylated proteins are required for tumor necrosis factor-induced apoptosis: defective response in I-cell disease fibroblasts. ( 15452110 )
2004
29
Inheritance, biochemical abnormalities, and clinical features of feline mucolipidosis II: the first animal model of human I-cell disease. ( 14557388 )
2003
30
Defective proximal tubular function in a patient with I-cell disease. ( 12811655 )
2003
31
Severe gingival hyperplasia in a child with I-cell disease. ( 12542623 )
2003
32
Continued neurocognitive development and prevention of cardiopulmonary complications after successful BMT for I-cell disease: a long-term follow-up report. ( 14561999 )
2003
33
Cathepsin-L, a key molecule in the pathogenesis of drug-induced and I-cell disease-mediated gingival overgrowth: a study with cathepsin-L-deficient mice. ( 12466121 )
2002
34
A case of I-cell disease (mucolipidosis II) presenting with craniosynostosis. ( 12483356 )
2002
35
Mucolipidosis II (I-cell disease) presenting as neonatal cholestasis. ( 11757590 )
2001
36
Peripheral blood lymphocyte appearance in a case of I cell disease. ( 11533084 )
2001
37
Prenatal ultrasound diagnosis of Leroy I cell disease. ( 11555461 )
2001
38
I-cell disease (Mucolipidosis II). ( 11028124 )
2000
39
I-cell disease presenting with severe hypophosphatemia and cardiomyopathy. ( 10774999 )
2000
40
I-cell disease complicated by unusual dilatative cardiomyopathy. ( 10947207 )
2000
41
Glycosylasparaginase as a marker enzyme in the detection of I-cell disease. ( 9882166 )
1998
42
I-cell disease-like phenotype in mice deficient in mannose 6-phosphate receptors. ( 10341453 )
1998
43
Improved morbidity with the use of nasal continuous positive airway pressure in I-cell disease. ( 9516097 )
1998
44
In vitro toxic effects of certain antibiotics on the fibroblasts of two children with I-cell disease. ( 9808361 )
1998
45
Glycosylasparaginase as a marker enzyme in the detection of I-cell disease ( 9836724 )
1998
46
Palmitoyl-protein thioesterase deficiency in fibroblasts of individuals with infantile neuronal ceroid lipofuscinosis and I-cell disease. ( 9247083 )
1997
47
Neonatal mucolipidosis II (I-cell disease) with dysharmonic epiphyseal ossification and butterfly vertebral body. ( 8915942 )
1996
48
Spontaneous mucolipidosis in a cat: an animal model of human I-cell disease. ( 8826001 )
1996
49
The biogenesis of the MHC class II compartment in human I-cell disease B lymphoblasts. ( 8603911 )
1996
50
I-cell disease: report of a case. ( 8676436 )
1996

Variations for Mucolipidosis Ii Alpha/beta

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

75
# 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
8 GNPTAB p.Asp76Gly VAR_079713
9 GNPTAB p.Ser385Leu VAR_079715

ClinVar genetic disease variations for Mucolipidosis Ii Alpha/beta:

6 (show top 50) (show all 482)
# 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.310C> T (p.Gln104Ter) single nucleotide variant Pathogenic rs137852896 GRCh38 Chromosome 12, 101789951: 101789951
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.3565C> T (p.Arg1189Ter) single nucleotide variant Pathogenic rs137852897 GRCh38 Chromosome 12, 101753409: 101753409
5 GNPTAB NM_024312.4(GNPTAB): c.3173C> G (p.Ser1058Ter) single nucleotide variant Pathogenic rs137852898 GRCh37 Chromosome 12, 102153884: 102153884
6 GNPTAB NM_024312.4(GNPTAB): c.3173C> G (p.Ser1058Ter) single nucleotide variant Pathogenic rs137852898 GRCh38 Chromosome 12, 101760106: 101760106
7 GNPTAB NM_024312.4(GNPTAB): c.3474_3475delTA (p.His1158Glnfs) deletion Pathogenic rs281865038 GRCh37 Chromosome 12, 102147277: 102147278
8 GNPTAB NM_024312.4(GNPTAB): c.3474_3475delTA (p.His1158Glnfs) deletion Pathogenic rs281865038 GRCh38 Chromosome 12, 101753499: 101753500
9 GNPTAB NM_024312.4(GNPTAB): c.2681G> A (p.Trp894Ter) single nucleotide variant Pathogenic rs137852899 GRCh37 Chromosome 12, 102158014: 102158014
10 GNPTAB NM_024312.4(GNPTAB): c.2681G> A (p.Trp894Ter) single nucleotide variant Pathogenic rs137852899 GRCh38 Chromosome 12, 101764236: 101764236
11 GNPTAB NM_024312.4(GNPTAB): c.2715+1G> A single nucleotide variant Pathogenic rs281865031 GRCh37 Chromosome 12, 102157979: 102157979
12 GNPTAB NM_024312.4(GNPTAB): c.2715+1G> A single nucleotide variant Pathogenic rs281865031 GRCh38 Chromosome 12, 101764201: 101764201
13 GNPTAB NM_024312.4(GNPTAB): c.2574_2575delGA (p.Asn859Glnfs) deletion Pathogenic rs281865029 GRCh37 Chromosome 12, 102158120: 102158121
14 GNPTAB NM_024312.4(GNPTAB): c.2574_2575delGA (p.Asn859Glnfs) deletion Pathogenic rs281865029 GRCh38 Chromosome 12, 101764342: 101764343
15 GNPTAB NM_024312.4(GNPTAB): c.1625_1626insC (p.Glu542Aspfs) insertion Pathogenic rs281865027 GRCh37 Chromosome 12, 102159069: 102159070
16 GNPTAB NM_024312.4(GNPTAB): c.1625_1626insC (p.Glu542Aspfs) insertion Pathogenic rs281865027 GRCh38 Chromosome 12, 101765291: 101765292
17 GNPTAB NM_024312.4(GNPTAB): c.3503_3504delTC (p.Leu1168Glnfs) deletion Pathogenic rs34002892 GRCh37 Chromosome 12, 102147248: 102147249
18 GNPTAB NM_024312.4(GNPTAB): c.3503_3504delTC (p.Leu1168Glnfs) deletion Pathogenic rs34002892 GRCh38 Chromosome 12, 101753470: 101753471
19 GNPTAB NM_024312.4(GNPTAB): c.3335+1G> A single nucleotide variant Pathogenic rs34940801 GRCh37 Chromosome 12, 102151349: 102151349
20 GNPTAB NM_024312.4(GNPTAB): c.3335+1G> A single nucleotide variant Pathogenic rs34940801 GRCh38 Chromosome 12, 101757571: 101757571
21 GNPTAB NM_024312.4(GNPTAB): c.3335+6T> G single nucleotide variant Pathogenic rs34788341 GRCh37 Chromosome 12, 102151344: 102151344
22 GNPTAB NM_024312.4(GNPTAB): c.3335+6T> G single nucleotide variant Pathogenic rs34788341 GRCh38 Chromosome 12, 101757566: 101757566
23 GNPTAB NM_024312.4(GNPTAB): c.10A> C (p.Lys4Gln) single nucleotide variant Likely pathogenic rs34159654 GRCh37 Chromosome 12, 102224444: 102224444
24 GNPTAB NM_024312.4(GNPTAB): c.10A> C (p.Lys4Gln) single nucleotide variant Likely pathogenic rs34159654 GRCh38 Chromosome 12, 101830666: 101830666
25 GNPTAB NM_024312.4(GNPTAB): c.1120T> C (p.Phe374Leu) single nucleotide variant Pathogenic rs137852900 GRCh37 Chromosome 12, 102163963: 102163963
26 GNPTAB NM_024312.4(GNPTAB): c.1120T> C (p.Phe374Leu) single nucleotide variant Pathogenic rs137852900 GRCh38 Chromosome 12, 101770185: 101770185
27 GNPTAB NM_024312.4(GNPTAB): c.3434+1G> A single nucleotide variant Pathogenic rs281865036 GRCh37 Chromosome 12, 102150989: 102150989
28 GNPTAB NM_024312.4(GNPTAB): c.1738TATA[3] (p.Ser581Ilefs) short repeat Pathogenic rs397507443 GRCh37 Chromosome 12, 102158954: 102158954
29 GNPTAB NM_024312.4(GNPTAB): c.1738TATA[3] (p.Ser581Ilefs) short repeat Pathogenic rs397507443 GRCh38 Chromosome 12, 101765176: 101765176
30 GNPTAB NM_024312.4(GNPTAB): c.3434+1G> A single nucleotide variant Pathogenic rs281865036 GRCh38 Chromosome 12, 101757211: 101757211
31 GNPTAB NM_024312.4(GNPTAB): c.118-2A> G single nucleotide variant Pathogenic rs281865023 GRCh37 Chromosome 12, 102190542: 102190542
32 GNPTAB NM_024312.4(GNPTAB): c.118-2A> G single nucleotide variant Pathogenic rs281865023 GRCh38 Chromosome 12, 101796764: 101796764
33 GNPTAB NM_024312.4(GNPTAB): c.1580delC (p.Cys528Valfs) deletion Pathogenic rs36007394 GRCh37 Chromosome 12, 102159901: 102159901
34 GNPTAB NM_024312.4(GNPTAB): c.1580delC (p.Cys528Valfs) deletion Pathogenic rs36007394 GRCh38 Chromosome 12, 101766123: 101766123
35 GNPTAB NM_024312.4(GNPTAB): c.2051_2055delACTCA (p.Ser685Lysfs) deletion Likely pathogenic rs34901902 GRCh37 Chromosome 12, 102158640: 102158644
36 GNPTAB NM_024312.4(GNPTAB): c.2051_2055delACTCA (p.Ser685Lysfs) deletion Likely pathogenic rs34901902 GRCh38 Chromosome 12, 101764862: 101764866
37 GNPTAB NM_024312.4(GNPTAB): c.2188delTinsAAA (p.Leu730Lysfs) indel Pathogenic rs34161232 GRCh37 Chromosome 12, 102158507: 102158507
38 GNPTAB NM_024312.4(GNPTAB): c.2188delTinsAAA (p.Leu730Lysfs) indel Pathogenic rs34161232 GRCh38 Chromosome 12, 101764729: 101764729
39 GNPTAB NM_024312.4(GNPTAB): c.2533C> T (p.Gln845Ter) single nucleotide variant Pathogenic rs281865028 GRCh37 Chromosome 12, 102158162: 102158162
40 GNPTAB NM_024312.4(GNPTAB): c.2533C> T (p.Gln845Ter) single nucleotide variant Pathogenic rs281865028 GRCh38 Chromosome 12, 101764384: 101764384
41 GNPTAB NM_024312.4(GNPTAB): c.2659dupA (p.Ser887Lysfs) duplication Pathogenic rs281865030 GRCh37 Chromosome 12, 102158036: 102158036
42 GNPTAB NM_024312.4(GNPTAB): c.2659dupA (p.Ser887Lysfs) duplication Pathogenic rs281865030 GRCh38 Chromosome 12, 101764258: 101764258
43 GNPTAB NM_024312.4(GNPTAB): c.2916_2917insT (p.Glu975Terfs) insertion Pathogenic rs281865032 GRCh37 Chromosome 12, 102155123: 102155123
44 GNPTAB NM_024312.4(GNPTAB): c.2916_2917insT (p.Glu975Terfs) insertion Pathogenic rs281865032 GRCh38 Chromosome 12, 101761345: 101761345
45 GNPTAB NM_024312.4(GNPTAB): c.3145_3146insC (p.Gly1049Alafs) insertion Pathogenic rs281865033 GRCh37 Chromosome 12, 102153911: 102153912
46 GNPTAB NM_024312.4(GNPTAB): c.3145_3146insC (p.Gly1049Alafs) insertion Pathogenic rs281865033 GRCh38 Chromosome 12, 101760133: 101760134
47 GNPTAB NM_024312.4(GNPTAB): c.3231_3234dupCTAC (p.Tyr1079Leufs) duplication Pathogenic rs34256381 GRCh37 Chromosome 12, 102153823: 102153826
48 GNPTAB NM_024312.4(GNPTAB): c.3231_3234dupCTAC (p.Tyr1079Leufs) duplication Pathogenic rs34256381 GRCh38 Chromosome 12, 101760045: 101760048
49 GNPTAB NM_024312.4(GNPTAB): c.3249+1G> A single nucleotide variant Pathogenic rs281865012 GRCh37 Chromosome 12, 102153807: 102153807
50 GNPTAB NM_024312.4(GNPTAB): c.3249+1G> A single nucleotide variant Pathogenic rs281865012 GRCh38 Chromosome 12, 101760029: 101760029

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

7
# 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 KEGG:

37
# Name Kegg Source Accession
1 Lysosome hsa04142

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

# 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:

# 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 9.62 IGF2R M6PR NEU1 PSAP
5 azurophil granule lumen GO:0035578 9.54 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)
# Name GO ID Score Top Affiliating Genes
1 carbohydrate metabolic process GO:0005975 9.67 FUCA1 GUSB NEU1
2 metabolic process GO:0008152 9.56 FUCA1 GUSB NEU1 SMPD1
3 sphingolipid metabolic process GO:0006665 9.48 GM2A PSAP
4 glycosaminoglycan catabolic process GO:0006027 9.46 FUCA1 GUSB
5 carbohydrate phosphorylation GO:0046835 9.43 GNPTAB GNPTG
6 oligosaccharide catabolic process GO:0009313 9.4 GM2A NEU1
7 ganglioside catabolic process GO:0006689 9.37 GM2A NEU1
8 secretion of lysosomal enzymes GO:0033299 9.32 GNPTAB M6PR
9 glycosphingolipid metabolic process GO:0006687 9.26 GM2A NEU1 PSAP SMPD1
10 neutrophil degranulation GO:0043312 9.17 CTSB FUCA1 GM2A GUSB IGF2R NEU1
11 N-glycan processing to lysosome GO:0016256 9.16 GNPTAB GNPTG

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

# Name GO ID Score Top Affiliating Genes
1 hydrolase activity GO:0016787 9.56 ADPRH ARSH CTSB FUCA1 GM2A GUSB
2 enzyme activator activity GO:0008047 9.32 GM2A PSAP
3 mannose binding GO:0005537 9.26 IGF2R M6PR
4 UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity GO:0003976 9.16 GNPTAB GNPTG
5 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
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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