CDG1B
MCID: CNG189
MIFTS: 52

Congenital Disorder of Glycosylation, Type Ib (CDG1B)

Categories: Blood diseases, Bone diseases, Cardiovascular diseases, Ear diseases, Endocrine diseases, Eye diseases, Fetal diseases, Gastrointestinal diseases, Genetic diseases, Immune diseases, Liver diseases, Mental diseases, Metabolic diseases, Muscle diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Skin diseases, Smell/Taste diseases

Aliases & Classifications for Congenital Disorder of Glycosylation, Type Ib

MalaCards integrated aliases for Congenital Disorder of Glycosylation, Type Ib:

Name: Congenital Disorder of Glycosylation, Type Ib 56 13
Mpi-Cdg 58 29 6
Cdg1b 56 58 73
Protein-Losing Enteropathy-Hepatic Fibrosis Syndrome 56 73
Congenital Disorder of Glycosylation Type 1b 58 71
Congenital Disorder of Glycosylation Type Ib 58 73
Congenital Disorder of Glycosylation Ib 12 15
Congenital Disorder of Glycosylation 1b 12 73
Mannosephosphate Isomerase Deficiency 56 73
Saguenay-Lac Saint-Jean Syndrome 56 73
Mpi Deficiency 56 73
Slsj Syndrome 56 73
Cdg Ib 56 73
Cdg-Ib 58 73
Cdgib 56 73
Carbohydrate Deficient Glycoprotein Syndrome Type Ib 58
Carbohydrate-Deficient Glycoprotein Syndrome Type Ib 73
Glycosylation, Congenital Disorder of, Type Ib 39
Phosphomannose Isomerase Deficiency 58
Cdg, Gastrointestinal Type 56
Cdg Gastrointestinal Type 73
Cdg Syndrome Type Ib 58
Cdg Ib; Cdgib 56
Cdgs1b 73
Pi M 6

Characteristics:

Orphanet epidemiological data:

58
mpi-cdg
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: early childhood,infantile,normal life expectancy;

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
onset of symptoms 2-12 months
responsive to oral mannose therapy


HPO:

31
congenital disorder of glycosylation, type ib:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare gastroenterological diseases
Rare hepatic diseases
Inborn errors of metabolism


Summaries for Congenital Disorder of Glycosylation, Type Ib

OMIM : 56 Congenital disorders of glycosylation (CDGs) are a genetically heterogeneous group of autosomal recessive disorders caused by enzymatic defects in the synthesis and processing of asparagine (N)-linked glycans or oligosaccharides on glycoproteins. Type I CDGs comprise defects in the assembly of the dolichol lipid-linked oligosaccharide (LLO) chain and its transfer to the nascent protein. These disorders can be identified by a characteristic abnormal isoelectric focusing profile of plasma transferrin (Leroy, 2006). For a discussion of the classification of CDGs, see CDG1A (212065). CDG Ib is clinically distinct from most other CDGs by the lack of significant central nervous system involvement. The predominant symptoms are chronic diarrhea with failure to thrive and protein-losing enteropathy with coagulopathy. Some patients develop hepatic fibrosis. CDG Ib is also different from other CDGs in that it can be treated effectively with oral mannose supplementation, but can be fatal if untreated (Marquardt and Denecke, 2003). Thus, CDG Ib should be considered in the differential diagnosis of patients with unexplained hypoglycemia, chronic diarrhea, liver disease, or coagulopathy in order to allow early diagnosis and effective therapy (Vuillaumier-Barrot et al., 2002) Freeze and Aebi (1999) reviewed CDG Ib and CDG Ic (603147). Marques-da-Silva et al. (2017) systematically reviewed the literature concerning liver involvement in CDG. (602579)

MalaCards based summary : Congenital Disorder of Glycosylation, Type Ib, also known as mpi-cdg, is related to congenital disorder of glycosylation, type ie and protein-losing enteropathy, and has symptoms including vomiting and diarrhea. An important gene associated with Congenital Disorder of Glycosylation, Type Ib is MPI (Mannose Phosphate Isomerase), and among its related pathways/superpathways are Glucose / Energy Metabolism and Carbon metabolism. The drugs Dexamethasone acetate and Epinephrine have been mentioned in the context of this disorder. Affiliated tissues include liver, testes and lung, and related phenotypes are malabsorption and hepatic failure

Disease Ontology : 12 A congenital disorder of glycosylation I that is characterized by protein-losing enteropathy, cyclic vomiting, profound hypoglycemia, failure to thrive, liver fibrosis, protein-losing enteropathy with hypoalbuminaemia, life-threatening intestinal bleeding of diffuse origin, protein C and S deficiency, low anti-thrombine III levels and has material basis in compound heterozygous mutation in the gene encoding mannosephosphate isomerase on chromosome 15q24.

UniProtKB/Swiss-Prot : 73 Congenital disorder of glycosylation 1B: A form of congenital disorder of glycosylation, a multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. CDG1B is clinically characterized by protein-losing enteropathy.

Related Diseases for Congenital Disorder of Glycosylation, Type Ib

Diseases in the Disorder of Multiple Glycosylation family:

Congenital Disorder of Glycosylation, Type Ia Congenital Disorder of Glycosylation, Type Iia
Congenital Disorder of Glycosylation, Type I/iix Congenital Disorder of Glycosylation, Type Iic
Congenital Disorder of Glycosylation, Type Iim Congenital Disorder of Glycosylation, Type Iy
Congenital Disorder of Glycosylation, Type Iir Congenital Disorder of Glycosylation, Type Id
Congenital Disorder of Glycosylation, Type Ib Congenital Disorder of Glycosylation, Type Ic
Congenital Disorder of Glycosylation, Type Iif Congenital Disorder of Glycosylation, Type Iib
Congenital Disorder of Glycosylation, Type Iid Congenital Disorder of Glycosylation, Type Ig
Congenital Disorder of Glycosylation, Type Ij Congenital Disorder of Glycosylation, Type Ih
Congenital Disorder of Glycosylation, Type Ik Congenital Disorder of Glycosylation, Type Il
Congenital Disorder of Glycosylation, Type Ie Congenital Disorder of Glycosylation, Type if
Congenital Disorder of Glycosylation, Type Im Congenital Disorder of Glycosylation, Type Iih
Congenital Disorder of Glycosylation, Type Iig Congenital Disorder of Glycosylation, Type in
Congenital Disorder of Glycosylation, Type Iq Congenital Disorder of Glycosylation, Type Iij
Congenital Disorder of Glycosylation, Type Iii Congenital Disorder of Glycosylation, Type Ip
Congenital Disorder of Glycosylation, Type Ir Congenital Disorder of Glycosylation, Type Iil
Congenital Disorder of Glycosylation, Type Iik Congenital Disorder of Glycosylation, Type It
Congenital Disorder of Glycosylation, Type Iu Congenital Disorder of Glycosylation, Type Iw
Congenital Disorder of Glycosylation, Type Ix Congenital Disorder of Glycosylation, Type Iin
Congenital Disorder of Glycosylation, Type Iio Congenital Disorder of Glycosylation, Type Iip
Congenital Disorder of Glycosylation, Type Iiq Congenital Disorder of Glycosylation, Type Iit

Diseases related to Congenital Disorder of Glycosylation, Type Ib via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 52)
# Related Disease Score Top Affiliating Genes
1 congenital disorder of glycosylation, type ie 32.4 MPI IGF2R
2 protein-losing enteropathy 29.9 SERPINC1 SERPINA1 MPI
3 esophageal varix 29.9 SERPINC1 SERPINA1
4 congenital disorder of glycosylation, type in 29.7 SERPINC1 MPI IGF2R
5 alpha-1-antitrypsin deficiency 29.3 SERPINC1 SERPINA1
6 congenital disorder of glycosylation, type ic 11.4
7 congenital disorder of glycosylation, type if 11.4
8 congenital disorder of glycosylation, type ig 11.3
9 ocular motor apraxia 10.3
10 visual epilepsy 10.3
11 seizure disorder 10.3
12 fibrosis of extraocular muscles, congenital, 1 10.2
13 hyperinsulinemic hypoglycemia 10.2
14 hypoglycemia 10.2
15 glucosephosphate isomerase deficiency 10.2 GPI G6PD
16 boutonneuse fever 10.1 SERPINA1 G6PD
17 aspartylglucosaminuria 10.1 MPI IGF2R
18 congenital nonspherocytic hemolytic anemia 10.1 GPI G6PD
19 varicose veins 10.1
20 portal hypertension 10.1
21 pancytopenia 10.1
22 diarrhea 10.1
23 hyperinsulinism 10.1
24 liver disease 10.1
25 congenital disorders of n-linked glycosylation and multiple pathway 10.1
26 congenital hepatic fibrosis 10.1
27 mucopolysaccharidosis iv 10.0 IGF2R GLA
28 mucopolysaccharidosis, type ii 10.0 IGF2R GLA
29 mucopolysaccharidosis, type vi 10.0 IGF2R GLA
30 sandhoff disease 10.0 IGF2R GLA
31 krabbe disease 10.0 IGF2R GLA
32 gm2 gangliosidosis 10.0 IGF2R GLA
33 scheie syndrome 9.9 IGF2R GLA
34 tay-sachs disease 9.9 IGF2R GLA
35 cutaneous leishmaniasis 9.9 MPI GPI G6PD
36 leishmaniasis 9.9 MPI GPI G6PD
37 puerperal pulmonary embolism 9.9 SERPINC1 SERPINA1
38 encephalopathy, familial, with neuroserpin inclusion bodies 9.9 SERPINC1 SERPINA1
39 sphingolipidosis 9.9 IGF2R GLA
40 purpura fulminans 9.8 SERPINC1 SERPINA1
41 ige responsiveness, atopic 9.8
42 liver cirrhosis 9.8
43 cataract 9.8
44 bronchiectasis 9.8
45 hepatic vascular disease 9.8 SERPINC1 SERPINA1
46 central retinal vein occlusion 9.8 SERPINC1 G6PD
47 hemolytic anemia 9.7 HK1 GPI G6PD
48 nonarteritic anterior ischemic optic neuropathy 9.6 SERPINC1 G6PD
49 hemophilia b 9.6 SERPINC1 SERPINA1
50 hemoglobinuria 9.6 SERPINC1 G6PD

Graphical network of the top 20 diseases related to Congenital Disorder of Glycosylation, Type Ib:



Diseases related to Congenital Disorder of Glycosylation, Type Ib

Symptoms & Phenotypes for Congenital Disorder of Glycosylation, Type Ib

Human phenotypes related to Congenital Disorder of Glycosylation, Type Ib:

58 31 (show all 23)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 malabsorption 58 31 hallmark (90%) Very frequent (99-80%) HP:0002024
2 hepatic failure 58 31 hallmark (90%) Very frequent (99-80%) HP:0001399
3 congenital hepatic fibrosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0002612
4 hypoglycemia 58 31 frequent (33%) Frequent (79-30%) HP:0001943
5 lymphedema 58 31 frequent (33%) Frequent (79-30%) HP:0001004
6 hepatomegaly 31 HP:0002240
7 muscular hypotonia 31 HP:0001252
8 failure to thrive 31 HP:0001508
9 vomiting 31 HP:0002013
10 cirrhosis 31 HP:0001394
11 hepatic fibrosis 31 HP:0001395
12 abnormal bleeding 31 HP:0001892
13 hypoalbuminemia 31 HP:0003073
14 diarrhea 31 HP:0002014
15 generalized hypotonia 31 HP:0001290
16 hyperinsulinemic hypoglycemia 31 HP:0000825
17 villous atrophy 31 HP:0011473
18 abnormal thrombosis 31 HP:0001977
19 protein-losing enteropathy 31 HP:0002243
20 reduced factor xi activity 31 HP:0001929
21 type i transferrin isoform profile 31 HP:0003642
22 reduced antithrombin iii activity 31 HP:0001976
23 lymphangiectasis 31 HP:0031842

Symptoms via clinical synopsis from OMIM:

56
Abdomen Liver:
hepatomegaly
cirrhosis
hepatic fibrosis
hepatic failure

Abdomen Gastrointestinal:
vomiting
diarrhea
villous atrophy
protein-losing enteropathy
lymphangiectasia

Endocrine Features:
hyperinsulinemic hypoglycemia

Hematology:
thrombosis
factor xi deficiency
anti-thrombin iii deficiency
bleeding episodes

Growth Other:
failure to thrive

Laboratory Abnormalities:
hypoalbuminemia
abnormal isoelectric focusing of serum transferrin, type i pattern
phosphomannose isomerase deficiency in leukocytes, fibroblasts, or liver

Neurologic Central Nervous System:
hypotonia

Clinical features from OMIM:

602579

UMLS symptoms related to Congenital Disorder of Glycosylation, Type Ib:


vomiting, diarrhea

MGI Mouse Phenotypes related to Congenital Disorder of Glycosylation, Type Ib:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.63 G6PD GLA GPI IGF2R MPI SERPINC1
2 embryo MP:0005380 9.35 G6PD GPI IGF2R MPI SERPINC1
3 liver/biliary system MP:0005370 9.02 GLA GPI HK1 IGF2R SERPINC1

Drugs & Therapeutics for Congenital Disorder of Glycosylation, Type Ib

Drugs for Congenital Disorder of Glycosylation, Type Ib (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dexamethasone acetate Approved, Investigational, Vet_approved 1177-87-3
2
Epinephrine Approved, Vet_approved 51-43-4 5816
3
Racepinephrine Approved 329-65-7 838
4
Dexamethasone Approved, Investigational, Vet_approved 50-02-2 5743
5 Epinephryl borate

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Study of ORL-1M (D-mannose) in Patients With CDG-Ib Recruiting NCT03404869 Phase 1, Phase 2 ORL-1M - D-mannose
2 Emory Conte Center for the Neuroscience of Mental Disorders: Psychobiology of Childhood Trauma Completed NCT00209105 DEX-CRF stimulation test

Search NIH Clinical Center for Congenital Disorder of Glycosylation, Type Ib

Genetic Tests for Congenital Disorder of Glycosylation, Type Ib

Genetic tests related to Congenital Disorder of Glycosylation, Type Ib:

# Genetic test Affiliating Genes
1 Mpi-Cdg 29 MPI

Anatomical Context for Congenital Disorder of Glycosylation, Type Ib

MalaCards organs/tissues related to Congenital Disorder of Glycosylation, Type Ib:

40
Liver, Testes, Lung

Publications for Congenital Disorder of Glycosylation, Type Ib

Articles related to Congenital Disorder of Glycosylation, Type Ib:

(show all 25)
# Title Authors PMID Year
1
Protein losing enteropathy-hepatic fibrosis syndrome in Saguenay-Lac St-Jean, Quebec is a congenital disorder of glycosylation type Ib. 6 56 61
12414827 2002
2
Genomic organization of the human phosphomannose isomerase (MPI) gene and mutation analysis in patients with congenital disorders of glycosylation type Ib (CDG-Ib). 6 56
10980531 2000
3
Phosphomannose isomerase deficiency: a carbohydrate-deficient glycoprotein syndrome with hepatic-intestinal presentation. 56 6
9585601 1998
4
Carbohydrate-deficient glycoprotein syndrome type Ib. Phosphomannose isomerase deficiency and mannose therapy. 6 56
9525984 1998
5
Secretory diarrhea with protein-losing enteropathy, enterocolitis cystica superficialis, intestinal lymphangiectasia, and congenital hepatic fibrosis: a new syndrome. 56 6
3080572 1986
6
Liver involvement in congenital disorders of glycosylation (CDG). A systematic review of the literature. 56
28108845 2017
7
Congenital disorders of N-glycosylation including diseases associated with O- as well as N-glycosylation defects. 56
17065563 2006
8
Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview 6
20301507 2005
9
Congenital disorders of glycosylation: review of their molecular bases, clinical presentations and specific therapies. 56
12756558 2003
10
A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 cases. 56
11134235 2001
11
Severe hypoglycemia as a presenting symptom of carbohydrate-deficient glycoprotein syndrome. 56
10586187 1999
12
Molecular basis of carbohydrate-deficient glycoprotein syndromes type I with normal phosphomannomutase activity. 56
10571010 1999
13
Hyperinsulinemic hypoglycemia as a presenting sign in phosphomannose isomerase deficiency: A new manifestation of carbohydrate-deficient glycoprotein syndrome treatable with mannose. 56
10484808 1999
14
Molecular analysis of the gene of the alpha 1-antitrypsin deficiency variant, Mnichinan. 6
2309708 1990
15
Molecular basis of alpha 1-antitrypsin deficiency and emphysema associated with the alpha 1-antitrypsin Mmineral springs allele. 6
1967187 1990
16
The alpha 1-antitrypsin gene and its deficiency states. 6
2696185 1989
17
Molecular characterisation of three alpha-1-antitrypsin deficiency variants: proteinase inhibitor (Pi) nullcardiff (Asp256----Val); PiMmalton (Phe51----deletion) and PiI (Arg39----Cys). 6
2606478 1989
18
Molecular basis of the liver and lung disease associated with the alpha 1-antitrypsin deficiency allele Mmalton. 6
2788166 1989
19
In-frame single codon deletion in the Mmalton deficiency allele of alpha 1-antitrypsin. 6
2786335 1989
20
A Pro----Leu substitution in codon 369 of the alpha-1-antitrypsin deficiency variant PI MHeerlen. 6
2784123 1989
21
Characterization of the gene and protein of the alpha 1-antitrypsin "deficiency" allele Mprocida. 6
3262617 1988
22
Deoxyribonucleic acid (DNA) polymorphism of the alpha 1-antitrypsin gene in chronic lung disease. 6
3038256 1987
23
[A family with a new deficient variant of alpha 1-antitrypsin PiMnichinan--with special reference to diastase-resistant, periodic acid-Schiff positive globules in the liver cells (author's transl)]. 6
6162902 1980
24
Using heparin therapy to reverse protein-losing enteropathy in a patient with CDG-Ib. 61
18285818 2008
25
Genetic and metabolic analysis of the first adult with congenital disorder of glycosylation type Ib: long-term outcome and effects of mannose supplementation. 61
11350186 2001

Variations for Congenital Disorder of Glycosylation, Type Ib

ClinVar genetic disease variations for Congenital Disorder of Glycosylation, Type Ib:

6 (show top 50) (show all 119) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MPI NM_002435.3(MPI):c.166C>T (p.Arg56Ter)SNV Pathogenic 851479 15:75183741-75183741 15:74891400-74891400
2 MPI NM_002435.3(MPI):c.631del (p.Glu211fs)deletion Pathogenic 843069 15:75185621-75185621 15:74893280-74893280
3 MPI NM_002435.3(MPI):c.305C>T (p.Ser102Leu)SNV Pathogenic 14346 rs104894494 15:75183880-75183880 15:74891539-74891539
4 MPI NM_002435.3(MPI):c.413T>C (p.Met138Thr)SNV Pathogenic 14347 rs104894495 15:75185069-75185069 15:74892728-74892728
5 MPI MPI, 1-BP INS, 166Cinsertion Pathogenic 14348
6 MPI NM_002435.3(MPI):c.884G>A (p.Arg295His)SNV Pathogenic 14349 rs28928906 15:75189391-75189391 15:74897050-74897050
7 SERPINA1 NM_001127701.1(SERPINA1):c.272G>A (p.Gly91Glu)SNV Pathogenic 17966 rs28931568 14:94849303-94849303 14:94382966-94382966
8 MPI NM_002435.3(MPI):c.1205A>G (p.Glu402Gly)SNV Pathogenic 218094 rs863225086 15:75190004-75190004 15:74897663-74897663
9 MPI NM_002435.3(MPI):c.1253G>A (p.Arg418His)SNV Pathogenic 218095 rs863225087 15:75190052-75190052 15:74897711-74897711
10 SERPINA1 NM_000295.5(SERPINA1):c.221_223TCT[2] (p.Phe76del)short repeat Pathogenic 315028 rs775982338 14:94849346-94849348 14:94383009-94383011
11 MPI NM_002435.3(MPI):c.656G>A (p.Arg219Gln)SNV Pathogenic/Likely pathogenic 14345 rs104894489 15:75185647-75185647 15:74893306-74893306
12 MPI NM_002435.3(MPI):c.166dup (p.Arg56fs)duplication Pathogenic/Likely pathogenic 188967 rs786204593 15:75183736-75183737 15:74891395-74891396
13 SERPINA1 NM_001127701.1(SERPINA1):c.194T>C (p.Leu65Pro)SNV Pathogenic/Likely pathogenic 17971 rs28931569 14:94849381-94849381 14:94383044-94383044
14 SERPINA1 NM_001127701.1(SERPINA1):c.1178C>T (p.Pro393Leu)SNV Pathogenic/Likely pathogenic 17965 rs199422209 14:94844865-94844865 14:94378528-94378528
15 MPI NM_002435.3(MPI):c.1193T>C (p.Ile398Thr)SNV Likely pathogenic 860729 15:75189992-75189992 15:74897651-74897651
16 MPI NM_002435.3(MPI):c.845-2A>GSNV Likely pathogenic 834890 15:75189350-75189350 15:74897009-74897009
17 MPI NM_002435.3(MPI):c.1A>G (p.Met1Val)SNV Likely pathogenic 429891 rs528828174 15:75182415-75182415 15:74890074-74890074
18 MPI NM_002435.3(MPI):c.802_803del (p.Met268fs)deletion Likely pathogenic 551638 rs1555479227 15:75188624-75188625 15:74896283-74896284
19 MPI NM_002435.3(MPI):c.845-2deldeletion Likely pathogenic 553083 rs1555479341 15:75189350-75189350 15:74897009-74897009
20 MPI NM_002435.3(MPI):c.880dup (p.Val294fs)duplication Likely pathogenic 550519 rs1555479351 15:75189386-75189387 15:74897045-74897046
21 MPI NM_002435.3(MPI):c.13C>T (p.Arg5Ter)SNV Likely pathogenic 554184 rs1452559752 15:75182427-75182427 15:74890086-74890086
22 MPI NM_002435.3(MPI):c.345+1G>ASNV Likely pathogenic 556169 rs1555478333 15:75183921-75183921 15:74891580-74891580
23 MPI NM_002435.3(MPI):c.844+1G>ASNV Likely pathogenic 554263 rs1394866894 15:75188667-75188667 15:74896326-74896326
24 MPI NM_002435.3(MPI):c.535del (p.His178_Leu179insTer)deletion Likely pathogenic 555330 rs1555478582 15:75185525-75185525 15:74893184-74893184
25 MPI NM_002435.3(MPI):c.629del (p.Val210fs)deletion Likely pathogenic 558595 rs1555478606 15:75185620-75185620 15:74893279-74893279
26 MPI NM_002435.3(MPI):c.-1_3del (p.Met1fs)deletion Likely pathogenic 553275 rs1555478015 15:75182413-75182416 15:74890072-74890075
27 MPI NM_002435.3(MPI):c.89_113del (p.Leu30fs)deletion Likely pathogenic 556580 rs1555478118 15:75182937-75182961 15:74890596-74890620
28 MPI NM_002435.3(MPI):c.796G>A (p.Glu266Lys)SNV Likely pathogenic 803107 15:75188618-75188618 15:74896277-74896277
29 MPI NM_002435.3(MPI):c.120del (p.Ile40fs)deletion Likely pathogenic 370410 rs1057516466 15:75182971-75182971 15:74890630-74890630
30 MPI NM_002435.3(MPI):c.145-1G>ASNV Likely pathogenic 370541 rs1057516573 15:75183719-75183719 15:74891378-74891378
31 MPI NM_002435.3(MPI):c.487+2deldeletion Likely pathogenic 370515 rs1057516550 15:75185145-75185145 15:74892804-74892804
32 MPI NM_002435.3(MPI):c.488-1G>ASNV Likely pathogenic 371308 rs759579169 15:75185478-75185478 15:74893137-74893137
33 MPI NM_002435.3(MPI):c.488-1G>CSNV Likely pathogenic 371556 rs759579169 15:75185478-75185478 15:74893137-74893137
34 MPI NM_002435.3(MPI):c.652A>T (p.Lys218Ter)SNV Likely pathogenic 370355 rs1057516424 15:75185643-75185643 15:74893302-74893302
35 MPI NM_002435.3(MPI):c.727C>T (p.Gln243Ter)SNV Likely pathogenic 370615 rs749911553 15:75188549-75188549 15:74896208-74896208
36 MPI NM_002435.3(MPI):c.740del (p.Gly247fs)deletion Likely pathogenic 371237 rs1057517115 15:75188561-75188561 15:74896220-74896220
37 MPI NM_002435.3(MPI):c.670+11T>CSNV Conflicting interpretations of pathogenicity 386069 rs144118442 15:75185672-75185672 15:74893331-74893331
38 MPI NM_002435.3(MPI):c.671-4T>GSNV Conflicting interpretations of pathogenicity 389367 rs199719453 15:75188489-75188489 15:74896148-74896148
39 MPI NM_002435.3(MPI):c.678C>A (p.Ala226=)SNV Conflicting interpretations of pathogenicity 94070 rs199972529 15:75188500-75188500 15:74896159-74896159
40 MPI NM_002435.3(MPI):c.303C>T (p.Leu101=)SNV Conflicting interpretations of pathogenicity 196348 rs139228075 15:75183878-75183878 15:74891537-74891537
41 MPI NM_002435.3(MPI):c.10C>T (p.Pro4Ser)SNV Conflicting interpretations of pathogenicity 282926 rs143982014 15:75182424-75182424 15:74890083-74890083
42 MPI NM_002435.3(MPI):c.378G>A (p.Pro126=)SNV Conflicting interpretations of pathogenicity 317138 rs752948071 15:75185034-75185034 15:74892693-74892693
43 MPI NM_002435.3(MPI):c.573C>T (p.Ala191=)SNV Conflicting interpretations of pathogenicity 706142 15:75185564-75185564 15:74893223-74893223
44 MPI NM_002435.3(MPI):c.414G>A (p.Met138Ile)SNV Conflicting interpretations of pathogenicity 449251 rs150217523 15:75185070-75185070 15:74892729-74892729
45 MPI NM_002435.3(MPI):c.849C>T (p.Cys283=)SNV Conflicting interpretations of pathogenicity 755362 15:75189356-75189356 15:74897015-74897015
46 SERPINA1 NM_000295.5(SERPINA1):c.514G>A (p.Gly172Arg)SNV Conflicting interpretations of pathogenicity 393473 rs112030253 14:94849061-94849061 14:94382724-94382724
47 MPI NM_002435.3(MPI):c.-5C>TSNV Uncertain significance 885951 15:75182410-75182410 15:74890069-74890069
48 MPI NM_002435.3(MPI):c.445T>C (p.Cys149Arg)SNV Uncertain significance 886953 15:75185101-75185101 15:74892760-74892760
49 MPI NM_002435.3(MPI):c.793G>A (p.Gly265Arg)SNV Uncertain significance 888216 15:75188615-75188615 15:74896274-74896274
50 MPI NM_002435.3(MPI):c.818A>G (p.Asn273Ser)SNV Uncertain significance 888217 15:75188640-75188640 15:74896299-74896299

UniProtKB/Swiss-Prot genetic disease variations for Congenital Disorder of Glycosylation, Type Ib:

73 (show all 13)
# Symbol AA change Variation ID SNP ID
1 MPI p.Ser102Leu VAR_012338 rs104894494
2 MPI p.Met138Thr VAR_012339 rs104894495
3 MPI p.Arg219Gln VAR_012340 rs104894489
4 MPI p.Ile140Thr VAR_012345 rs773678732
5 MPI p.Met51Thr VAR_022516 rs764835081
6 MPI p.Tyr129Cys VAR_022517 rs887249336
7 MPI p.Asp131Asn VAR_022518 rs566620411
8 MPI p.Arg152Gln VAR_022519 rs766458792
9 MPI p.Gly250Ser VAR_022520 rs748090636
10 MPI p.Tyr255Cys VAR_022521
11 MPI p.Arg295His VAR_022522 rs28928906
12 MPI p.Ile398Thr VAR_022523 rs369326210
13 MPI p.Arg418His VAR_022524 rs863225087

Expression for Congenital Disorder of Glycosylation, Type Ib

Search GEO for disease gene expression data for Congenital Disorder of Glycosylation, Type Ib.

Pathways for Congenital Disorder of Glycosylation, Type Ib

Pathways related to Congenital Disorder of Glycosylation, Type Ib according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 12.07 IGF2R HK1 G6PD
2
Show member pathways
11.82 HK1 GPI G6PD
3
Show member pathways
11.52 HK1 GPI GLA
4 11.3 HK1 G6PD
5
Show member pathways
11.23 GPI G6PD
6
Show member pathways
11.22 MPI HK1 GPI
7
Show member pathways
11.04 MPI HK1
8 10.34 HK1 GPI G6PD
9
Show member pathways
9.75 HK1 GPI G6PD

GO Terms for Congenital Disorder of Glycosylation, Type Ib

Cellular components related to Congenital Disorder of Glycosylation, Type Ib according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.23 TPRG1L SERPINC1 SERPINA1 MPI IGF2R GPI

Biological processes related to Congenital Disorder of Glycosylation, Type Ib according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 neutrophil degranulation GO:0043312 9.56 SERPINA1 IGF2R GPI GLA
2 glycolytic process GO:0006096 9.37 HK1 GPI
3 carbohydrate metabolic process GO:0005975 9.35 MPI HK1 GPI GLA G6PD
4 hemostasis GO:0007599 9.33 SERPINC1 SERPINA1 GPI
5 canonical glycolysis GO:0061621 9.32 HK1 GPI
6 glucose 6-phosphate metabolic process GO:0051156 8.8 HK1 GPI G6PD

Molecular functions related to Congenital Disorder of Glycosylation, Type Ib according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 9.1 TPRG1L SERPINC1 SERPINA1 IGF2R HK1 G6PD
2 glucose binding GO:0005536 8.96 HK1 G6PD

Sources for Congenital Disorder of Glycosylation, Type Ib

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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