MCID: MCL062
MIFTS: 44

Mucolipidosis Ii Alpha/beta malady

Genetic diseases, Rare diseases, Bone diseases, Metabolic diseases, Fetal diseases, Neuronal diseases, Eye diseases categories

Summaries for Mucolipidosis Ii Alpha/beta

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OMIM:47 Cathey et al. (2008) reported an updated nomenclature classification system for mucolipidosis II and III. ML II was... (252500) more...

MalaCards based summary: Mucolipidosis Ii Alpha/beta, also known as i-cell disease, is related to mucolipidosis and hyperparathyroidism, and has symptoms including coarse facial features, abnormality of the thorax and hypertrichosis. An important gene associated with Mucolipidosis Ii Alpha/beta is GNPTAB (N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits). Affiliated tissues include bone, heart and skin.

Genetics Home Reference:23 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.

GeneReviews summary for ml2

Aliases & Classifications for Mucolipidosis Ii Alpha/beta

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Sources:
47OMIM, 11diseasecard, 21GeneReviews, 23Genetics Home Reference, 43NIH Rare Diseases, 45Novoseek, 49Orphanet, 24GTR, 22GeneTests, 36MESH via Orphanet, 28ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Mucolipidosis Ii Alpha/beta, Aliases & Descriptions:

Name: Mucolipidosis Ii Alpha/beta 47 11 21 23
I-Cell Disease 21 43 23 45 49
Inclusion Cell Disease 21 43 23
Mucolipidosis Type Ii 23 49 24
N-Acetylglucosamine 1-Phosphotransferase Deficiency 43 49
Mucolipidosis Type 2 43 22
Mucolipidosis Ii 21 23
I Cell Disease 43 24
N-Acetylglucosamine 1phosphotransferase Deficiency 43
 
Ml Disorder Type 2 43
Ml Ii Alpha/beta 21
Mucolipidosis 2 43
Leroy Disease 43
Gnpta 43
Ml Ii 21
Ml 2 43
Mlii 23
Icd 43


Classifications:



Characteristics (Orphanet epidemiological data):

49
i-cell disease:
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; Age of onset: Neonatal; Age of death: infantile,stillbirth


External Ids:

OMIM47 252500
Orphanet49 576
MESH via Orphanet36 C538602
ICD10 via Orphanet28 E77.0
UMLS via Orphanet63 C0020725, C2931894

Related Diseases for Mucolipidosis Ii Alpha/beta

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



Diseases related to mucolipidosis ii alpha/beta

Symptoms for Mucolipidosis Ii Alpha/beta

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Symptoms by clinical synopsis from OMIM:

252500

Clinical features from OMIM:

252500

Symptoms:

 49 (show all 29)
  • coarse face
  • corneal ulceration/perforation
  • anomalies of chest/thorax/trunk
  • herniae
  • hirsutism/hypertrichosis/increased body hair
  • hepatomegaly/liver enlargement (excluding storage disease)
  • splenomegaly
  • structural anomalies of the nervous system
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • anomalies of bones/skeletal anomalies
  • lipidosis/sulfatidosis
  • autosomal recessive inheritance
  • short stature/dwarfism/nanism
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • epicanthic folds
  • depressed nasal bridge
  • anteverted nares/nostrils
  • long philtrum
  • thin skin
  • tight skin/lack of elasticity
  • corneal dystrophy
  • broad alveolar ridge
  • kyphosis
  • wrist/carpal anomalies
  • cavernous/tuberous hemangioma
  • repeat respiratory infections
  • cardiac valvulopathy
  • heart/cardiac failure
  • weight loss/loss of appetite/break in weight curve/general health alteration

HPO human phenotypes related to Mucolipidosis Ii Alpha/beta:

(show all 86)
id Description Frequency HPO Source Accession
1 coarse facial features hallmark (90%) HP:0000280
2 abnormality of the thorax hallmark (90%) HP:0000765
3 hypertrichosis hallmark (90%) HP:0000998
4 splenomegaly hallmark (90%) HP:0001744
5 morphological abnormality of the central nervous system hallmark (90%) HP:0002011
6 hepatomegaly hallmark (90%) HP:0002240
7 short stature hallmark (90%) HP:0004322
8 cognitive impairment hallmark (90%) HP:0100543
9 hernia hallmark (90%) HP:0100790
10 corneal erosion hallmark (90%) HP:0200020
11 epicanthus typical (50%) HP:0000286
12 long philtrum typical (50%) HP:0000343
13 anteverted nares typical (50%) HP:0000463
14 thin skin typical (50%) HP:0000963
15 depressed nasal bridge typical (50%) HP:0005280
16 lack of skin elasticity typical (50%) HP:0100679
17 broad alveolar ridges occasional (7.5%) HP:0000187
18 cavernous hemangioma occasional (7.5%) HP:0001048
19 corneal dystrophy occasional (7.5%) HP:0001131
20 congestive heart failure occasional (7.5%) HP:0001635
21 abnormality of the heart valves occasional (7.5%) HP:0001654
22 weight loss occasional (7.5%) HP:0001824
23 recurrent respiratory infections occasional (7.5%) HP:0002205
24 kyphosis occasional (7.5%) HP:0002808
25 abnormality of the wrist occasional (7.5%) HP:0003019
26 autosomal recessive inheritance HP:0000007
27 inguinal hernia HP:0000023
28 macroglossia HP:0000158
29 coarse facial features HP:0000280
30 epicanthus HP:0000286
31 narrow forehead HP:0000341
32 long philtrum HP:0000343
33 high forehead HP:0000348
34 recurrent otitis media HP:0000403
35 anteverted nares HP:0000463
36 megalocornea HP:0000485
37 sparse eyebrow HP:0000535
38 hypoplastic scapulae HP:0000882
39 osteopenia HP:0000938
40 cavernous hemangioma HP:0001048
41 split hand HP:0001171
42 neonatal hypotonia HP:0001319
43 carpal bone hypoplasia HP:0001498
44 failure to thrive HP:0001508
45 umbilical hernia HP:0001537
46 protuberant abdomen HP:0001538
47 diastasis recti HP:0001540
48 abnormality of the rib cage HP:0001547
49 hoarse voice HP:0001609
50 congestive heart failure HP:0001635
51 hypertrophic cardiomyopathy HP:0001639
52 cardiomegaly HP:0001640
53 aortic regurgitation HP:0001659
54 splenomegaly HP:0001744
55 talipes equinovarus HP:0001762
56 myelopathy HP:0002196
57 hepatomegaly HP:0002240
58 thickened calvaria HP:0002684
59 large sella turcica HP:0002690
60 pathologic fracture HP:0002756
61 hip dislocation HP:0002827
62 recurrent bronchitis HP:0002837
63 flared iliac wings HP:0002869
64 metaphyseal widening HP:0003016
65 short long bones HP:0003026
66 flat acetabular roof HP:0003180
67 deficiency of n-acetylglucosamine-1-phosphotransferase HP:0003264
68 ovoid vertebral bodies HP:0003300
69 hypoplasia of the odontoid process HP:0003311
70 increased serum beta-hexosaminidase HP:0003333
71 atlantoaxial dislocation HP:0003414
72 thoracolumbar kyphoscoliosis HP:0003423
73 increased serum iduronate sulfatase activity HP:0003538
74 beaking of vertebral bodies t12-l3 HP:0004562
75 depressed nasal bridge HP:0005280
76 varus deformity of humeral neck HP:0006362
77 recurrent pneumonia HP:0006532
78 wide intermamillary distance HP:0006610
79 opacification of the corneal stroma HP:0007759
80 mucopolysacchariduria HP:0008155
81 lower thoracic interpediculate narrowness HP:0008470
82 severe postnatal growth retardation HP:0008850
83 progressive alveolar ridge hypertropy HP:0009092
84 bullet-shaped phalanges of the hand HP:0009769
85 severe global developmental delay HP:0011344
86 palpebral edema HP:0100540

Drugs & Therapeutics for Mucolipidosis Ii Alpha/beta

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Drug clinical trials:

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Search NIH Clinical Center for Mucolipidosis Ii Alpha/beta

Genetic Tests for Mucolipidosis Ii Alpha/beta

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Genetic tests related to Mucolipidosis Ii Alpha/beta:

id Genetic test Affiliating Genes
1 Mucolipidosis Ii22 24 GNPTAB
2 I Cell Disease24

Anatomical Context for Mucolipidosis Ii Alpha/beta

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

33
Bone, Heart, Skin, Liver

Animal Models for Mucolipidosis Ii Alpha/beta or affiliated genes

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Publications for Mucolipidosis Ii Alpha/beta

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Articles related to Mucolipidosis Ii Alpha/beta:

idTitleAuthorsYear
1
Pitfalls in the prenatal diagnosis of mucolipidosis II alpha/beta: A case report. (25606425)
2014
2
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

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

64
id Symbol AA change Variation ID SNP ID
1GNPTABp.Lys1236MetVAR_027511
2GNPTABp.Leu1001ProVAR_062814
3GNPTABp.Trp81LeuVAR_070831
4GNPTABp.Lys732AsnVAR_070833
5GNPTABp.Arg986CysVAR_070834

Clinvar genetic disease variations for Mucolipidosis Ii Alpha/beta:

7 (show all 93)
id Gene Variation Type Significance SNP ID Assembly Location
1GNPTABNM_024312.4(GNPTAB): c.310C> T (p.Gln104Ter)single nucleotide variantPathogenicrs137852896GRCh37Chr 12, 102183729: 102183729
2GNPTABNM_024312.4(GNPTAB): c.3565C> T (p.Arg1189Ter)single nucleotide variantPathogenicrs137852897GRCh37Chr 12, 102147187: 102147187
3GNPTABNM_024312.4(GNPTAB): c.3173C> G (p.Ser1058Ter)single nucleotide variantPathogenicrs137852898GRCh37Chr 12, 102153884: 102153884
4GNPTABNM_024312.4(GNPTAB): c.3474_3475delTA (p.His1158Glnfs)deletionPathogenicrs281865038GRCh37Chr 12, 102147277: 102147278
5GNPTABNM_024312.4(GNPTAB): c.2681G> A (p.Trp894Ter)single nucleotide variantPathogenicrs137852899GRCh37Chr 12, 102158014: 102158014
6GNPTABNM_024312.4(GNPTAB): c.2715+1G> Asingle nucleotide variantPathogenicrs281865031GRCh37Chr 12, 102157979: 102157979
7GNPTABNM_024312.4(GNPTAB): c.2574_2575delGA (p.Asn859Glnfs)deletionPathogenicrs281865029GRCh37Chr 12, 102158120: 102158121
8GNPTABNM_024312.4(GNPTAB): c.1625_1626insC (p.Glu542Aspfs)insertionPathogenicrs281865027GRCh37Chr 12, 102159069: 102159070
9GNPTABNM_024312.4(GNPTAB): c.3503_3504delTC (p.Leu1168Glnfs)deletionPathogenicrs34002892GRCh37Chr 12, 102147248: 102147249
10GNPTABNM_024312.4(GNPTAB): c.3335+1G> Asingle nucleotide variantPathogenicrs34940801GRCh37Chr 12, 102151349: 102151349
11GNPTABNM_024312.4(GNPTAB): c.3335+6T> Gsingle nucleotide variantPathogenicrs34788341GRCh37Chr 12, 102151344: 102151344
12GNPTABNM_024312.4(GNPTAB): c.1120T> C (p.Phe374Leu)single nucleotide variantPathogenicrs137852900GRCh37Chr 12, 102163963: 102163963
13GNPTABNM_024312.4(GNPTAB): c.118-2A> Gsingle nucleotide variantPathogenicrs281865023GRCh37Chr 12, 102190542: 102190542
14GNPTABNM_024312.4(GNPTAB): c.1580delC (p.Cys528Valfs)deletionPathogenicrs36007394GRCh37Chr 12, 102159901: 102159901
15GNPTABNM_024312.4(GNPTAB): c.1738_1741[3] (p.Ser581Ilefs)undetermined variantPathogenicrs397507443GRCh37Chr 12, 102158954: 102158957
16GNPTABNM_024312.4(GNPTAB): c.2188delTinsAAA (p.Leu730Lysfs)indelPathogenicrs34161232GRCh37Chr 12, 102158507: 102158507
17GNPTABNM_024312.4(GNPTAB): c.2533C> T (p.Gln845Ter)single nucleotide variantPathogenicrs281865028GRCh37Chr 12, 102158162: 102158162
18GNPTABNM_024312.4(GNPTAB): c.2659dupA (p.Ser887Lysfs)duplicationPathogenicrs281865030GRCh37Chr 12, 102158035: 102158036
19GNPTABNM_024312.4(GNPTAB): c.2917dupT (p.Glu975Terfs)duplicationPathogenicrs281865032GRCh37Chr 12, 102155123: 102155124
20GNPTABNM_024312.4(GNPTAB): c.3145_3146insC (p.Gly1049Alafs)insertionPathogenicrs281865033GRCh37Chr 12, 102153911: 102153912
21GNPTABNM_024312.4(GNPTAB): c.3231_3234dupCTAC (p.Tyr1079Leufs)duplicationPathogenicrs34256381GRCh37Chr 12, 102153823: 102153826
22GNPTABNM_024312.4(GNPTAB): c.3249+1G> Asingle nucleotide variantPathogenicrs281865012GRCh37Chr 12, 102153807: 102153807
23GNPTABNM_024312.4(GNPTAB): c.3252delA (p.Pro1085Argfs)deletionPathogenicrs281865035GRCh37Chr 12, 102151433: 102151433
24GNPTABNM_024312.4(GNPTAB): c.3434+1G> Asingle nucleotide variantPathogenicrs281865036GRCh37Chr 12, 102150989: 102150989
25GNPTABNM_024312.4(GNPTAB): c.3567dupA (p.Asn1190Lysfs)duplicationPathogenicrs281865039GRCh37Chr 12, 102147185: 102147186
26GNPTABNM_024312.4(GNPTAB): c.3613C> T (p.Arg1205Ter)single nucleotide variantPathogenicrs35333334GRCh37Chr 12, 102142959: 102142959
27GNPTABNM_024312.4(GNPTAB): c.555_556ins296insertionPathogenicGRCh37Chr 12, 102179805: 102179806
28GNPTABNM_024312.4(GNPTAB): c.616_619delACAG (p.Thr206Tyrfs)deletionPathogenicrs281865024GRCh37Chr 12, 102174352: 102174355
29GNPTABNM_024312.4(GNPTAB): c.848delA (p.Thr284Leufs)deletionPathogenicrs34517004GRCh37Chr 12, 102164859: 102164859
30GNPTABNM_024312.4(GNPTAB): c.1001G> T (p.Arg334Leu)single nucleotide variantPathogenicrs281864970GRCh37Chr 12, 102164296: 102164296
31GNPTABNM_024312.4(GNPTAB): c.1042A> C (p.Ile348Leu)single nucleotide variantPathogenicrs7958709GRCh37Chr 12, 102164255: 102164255
32GNPTABNM_024312.4(GNPTAB): c.1090C> T (p.Arg364Ter)single nucleotide variantPathogenicrs200646278GRCh37Chr 12, 102164207: 102164207
33GNPTABNM_024312.4(GNPTAB): c.1123C> T (p.Arg375Ter)single nucleotide variantPathogenicrs397507447GRCh37Chr 12, 102163960: 102163960
34GNPTABNM_024312.4(GNPTAB): c.(?_118)_(203_?)dup (p.Leu(?_69)_Leu(69_?)Trpfs)duplicationPathogenicGRCh37Chr 12, 102190455: 102190540
35GNPTABNM_024312.4(GNPTAB): c.1191_1194dupGCTG (p.Ser399Alafs)duplicationPathogenicrs281864971GRCh37Chr 12, 102163889: 102163892
36GNPTABNM_024312.4(GNPTAB): c.1206dupT (p.Ile403Tyrfs)duplicationPathogenicrs281864972GRCh37Chr 12, 102163876: 102163877
37GNPTABNM_024312.4(GNPTAB): c.121delG (p.Val41Phefs)deletionPathogenicrs281864948GRCh37Chr 12, 102190537: 102190537
38GNPTABNM_024312.4(GNPTAB): c.1331dupG (p.Ser445Phefs)duplicationPathogenicrs281864976GRCh37Chr 12, 102161891: 102161892
39GNPTABNM_024312.4(GNPTAB): c.136C> T (p.Arg46Ter)single nucleotide variantPathogenicrs78347057GRCh37Chr 12, 102190522: 102190522
40GNPTABNM_024312.4(GNPTAB): c.1381T> G (p.Cys461Gly)single nucleotide variantPathogenicrs281864977GRCh37Chr 12, 102161842: 102161842
41GNPTABNM_024312.4(GNPTAB): c.1399delG (p.Asp467Ilefs)deletionPathogenicrs397507448GRCh37Chr 12, 102161824: 102161824
42GNPTABNM_024312.4(GNPTAB): c.1519C> T (p.Gln507Ter)single nucleotide variantPathogenicrs281864981GRCh37Chr 12, 102159962: 102159962
43GNPTABNM_024312.4(GNPTAB): c.163dupT (p.Ser55Phefs)duplicationPathogenicrs281864949GRCh37Chr 12, 102190494: 102190495
44GNPTABNM_024312.4(GNPTAB): c.171delA (p.Asp58Thrfs)deletionPathogenicrs281864951GRCh37Chr 12, 102190487: 102190487
45GNPTABNM_024312.4(GNPTAB): c.1759C> T (p.Arg587Ter)single nucleotide variantPathogenicrs281864982GRCh37Chr 12, 102158936: 102158936
46GNPTABNM_024312.4(GNPTAB): c.1959_1962delTAGT (p.Ser654Profs)deletionPathogenicrs281864983GRCh37Chr 12, 102158733: 102158736
47GNPTABNM_024312.4(GNPTAB): c.1965delC (p.Ile656Terfs)deletionPathogenicrs281864984GRCh37Chr 12, 102158730: 102158730
48GNPTABNM_024312.4(GNPTAB): c.1999G> T (p.Glu667Ter)single nucleotide variantPathogenicrs281864985GRCh37Chr 12, 102158696: 102158696
49GNPTABNM_024312.4(GNPTAB): c.1999_2000insT (p.Glu667Valfs)insertionPathogenicrs281864986GRCh37Chr 12, 102158695: 102158696
50GNPTABNM_024312.4(GNPTAB): c.2089dupC (p.Leu697Profs)duplicationPathogenicrs281864987GRCh37Chr 12, 102158605: 102158606
51GNPTABNM_024312.4(GNPTAB): c.2196G> T (p.Lys732Asn)single nucleotide variantPathogenicrs281864989GRCh37Chr 12, 102158499: 102158499
52GNPTABNM_024312.4(GNPTAB): c.2220_2221dupGA (p.Met741Argfs)duplicationPathogenicrs281864990GRCh37Chr 12, 102158473: 102158474
53GNPTABNM_024312.4(GNPTAB): c.2249dupA (p.Asn750Lysfs)duplicationPathogenicrs281864991GRCh37Chr 12, 102158445: 102158446
54GNPTABNM_024312.4(GNPTAB): c.2275_2276delAA (p.Asn759Terfs)deletionPathogenicrs281864992GRCh37Chr 12, 102158419: 102158420
55GNPTABNM_024312.4(GNPTAB): c.2422delC (p.Leu808Trpfs)deletionPathogenicrs281864993GRCh37Chr 12, 102158273: 102158273
56GNPTABNM_024312.4(GNPTAB): c.2427delC (p.Leu810Trpfs)deletionPathogenicrs281864994GRCh37Chr 12, 102158268: 102158268
57GNPTABNM_024312.4(GNPTAB): c.2544delA (p.Glu849Lysfs)deletionPathogenicrs281864995GRCh37Chr 12, 102158151: 102158151
58GNPTABNM_024312.4(GNPTAB): c.2550_2554delGAAAA (p.Lys850Asnfs)deletionPathogenicrs281864996GRCh37Chr 12, 102158141: 102158145
59GNPTABNM_024312.4(GNPTAB): c.2664C> G (p.Tyr888Ter)single nucleotide variantPathogenicrs281864998GRCh37Chr 12, 102158031: 102158031
60GNPTABNM_024312.4(GNPTAB): c.2693dupA (p.Tyr899Valfs)duplicationPathogenicrs281864999GRCh37Chr 12, 102158001: 102158002
61GNPTABNM_024312.4(GNPTAB): c.3002T> C (p.Leu1001Pro)single nucleotide variantPathogenicrs281865006GRCh37Chr 12, 102155038: 102155038
62GNPTABNM_024312.4(GNPTAB): c.3061C> T (p.Gln1021Ter)single nucleotide variantPathogenicrs281865008GRCh37Chr 12, 102154979: 102154979
63GNPTABNM_024312.4(GNPTAB): c.3091C> T (p.Arg1031Ter)single nucleotide variantPathogenicrs281865009GRCh37Chr 12, 102154949: 102154949
64GNPTABNM_024312.4(GNPTAB): c.3160C> G (p.Leu1054Val)single nucleotide variantPathogenicrs281865010GRCh37Chr 12, 102153897: 102153897
65GNPTABNM_024312.4(GNPTAB): c.3232delT (p.Tyr1078Thrfs)deletionPathogenicrs281865011GRCh37Chr 12, 102153825: 102153825
66GNPTABNM_024312.4(GNPTAB): c.3249+1G> Csingle nucleotide variantPathogenicrs281865012GRCh37Chr 12, 102153807: 102153807
67GNPTABNM_024312.4(GNPTAB): c.3310delG (p.Ala1104Hisfs)deletionPathogenicrs281865013GRCh37Chr 12, 102151375: 102151375
68GNPTABNM_024312.4(GNPTAB): c.3328dupA (p.Tyr1111Ilefs)duplicationPathogenicrs281865014GRCh37Chr 12, 102151357: 102151358
69GNPTABNM_024312.4(GNPTAB): c.3410T> A (p.Leu1137Ter)single nucleotide variantPathogenicrs142065232GRCh37Chr 12, 102151014: 102151014
70GNPTABNM_024312.4(GNPTAB): c.3428dupA (p.Asn1143Lysfs)duplicationPathogenicrs281865017GRCh37Chr 12, 102150995: 102150996
71GNPTABNM_024312.4(GNPTAB): c.342_343delCA (p.Thr115Asnfs)deletionPathogenicrs281864954GRCh37Chr 12, 102182348: 102182349
72GNPTABNM_024312.4(GNPTAB): c.3487_3490delACAG (p.Thr1163Terfs)deletionPathogenicrs281865020GRCh37Chr 12, 102147262: 102147265
73GNPTABNM_024312.4(GNPTAB): c.3523_3529delATGTTCC (p.Met1175Profs)deletionPathogenicrs281865021GRCh37Chr 12, 102147223: 102147229
74GNPTABNM_024312.4(GNPTAB): c.3741_3744delAGAA (p.Glu1248Leufs)deletionPathogenicrs281865022GRCh37Chr 12, 102140969: 102140972
75GNPTABNM_024312.4(GNPTAB): c.440delC (p.Asn148Thrfs)deletionPathogenicrs281864955GRCh37Chr 12, 102179921: 102179921
76GNPTABNM_024312.4(GNPTAB): c.625_629delAGGGG (p.Arg209Leufs)deletionPathogenicrs281864961GRCh37Chr 12, 102174342: 102174346
77GNPTABNM_024312.4(GNPTAB): c.637-1G> Asingle nucleotide variantPathogenicrs281864962GRCh37Chr 12, 102174065: 102174065
78GNPTABNM_024312.4(GNPTAB): c.648_651delAGAA (p.Glu217Serfs)deletionPathogenicrs281864963GRCh37Chr 12, 102174050: 102174053
79GNPTABNM_024312.4(GNPTAB): c.749dupA (p.Asn250Lysfs)duplicationPathogenicrs281864964GRCh37Chr 12, 102173951: 102173952
80GNPTABNM_024312.4: c.750+3A> Csingle nucleotide variantPathogenic
81GNPTABNM_024312.4(GNPTAB): c.755_759delCCTCT (p.Ser252Terfs)deletionPathogenicrs281864965GRCh37Chr 12, 102173942: 102173946
82GNPTABNM_024312.4(GNPTAB): c.857dupA (p.Asn287Glufs)duplicationPathogenicrs281864966GRCh37Chr 12, 102164849: 102164850
83GNPTABNM_024312.4(GNPTAB): c.914dupA (p.Asp305Glufs)duplicationPathogenicrs281864967GRCh37Chr 12, 102164792: 102164793
84GNPTABNM_024312.4(GNPTAB): c.940C> T (p.Gln314Ter)single nucleotide variantPathogenicrs281864968GRCh37Chr 12, 102164357: 102164357
85GNPTABNM_024312.4(GNPTAB): c.2864C> T (p.Ala955Val)single nucleotide variantPathogenicrs138390866GRCh37Chr 12, 102155393: 102155393
86GNPTABNM_024312.4(GNPTAB): c.3392C> T (p.Ser1131Phe)single nucleotide variantPathogenicrs281865016GRCh37Chr 12, 102151032: 102151032
87GNPTABNM_024312.4(GNPTAB): c.614A> C (p.Gln205Pro)single nucleotide variantPathogenicrs281864959GRCh37Chr 12, 102174357: 102174357
88GNPTABNM_024312.4(GNPTAB): c.1402T> A (p.Cys468Ser)single nucleotide variantPathogenicrs281864979GRCh37Chr 12, 102161821: 102161821
89GNPTABNM_024312.4(GNPTAB): c.2189delT (p.Leu730Cysfs)deletionPathogenicrs281864988GRCh37Chr 12, 102158506: 102158506
90GNPTABNM_024312.4(GNPTAB): c.2591_2592insG (p.Asn865Lysfs)insertionPathogenicrs281864997GRCh37Chr 12, 102158103: 102158104
91GNPTABNM_024312.4(GNPTAB): c.3053A> G (p.Asp1018Gly)single nucleotide variantPathogenicrs281865007GRCh37Chr 12, 102154987: 102154987
92GNPTABNM_024312.4(GNPTAB): c.3336-1G> Csingle nucleotide variantPathogenicrs397507562GRCh37Chr 12, 102151089: 102151089
93GNPTABGNPTAB: c.1895C> Gsingle nucleotide variantPathogenic

Expression for genes affiliated with Mucolipidosis Ii Alpha/beta

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

Pathways for genes affiliated with Mucolipidosis Ii Alpha/beta

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Compounds for genes affiliated with Mucolipidosis Ii Alpha/beta

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GO Terms for genes affiliated with Mucolipidosis Ii Alpha/beta

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Products for genes affiliated with Mucolipidosis Ii Alpha/beta

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Mucolipidosis Ii Alpha/beta

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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet