IGS1
MCID: IMR002
MIFTS: 42

Imerslund-Grasbeck Syndrome 1 (IGS1)

Categories: Gastrointestinal diseases, Genetic diseases, Nephrological diseases, Neuronal diseases

Aliases & Classifications for Imerslund-Grasbeck Syndrome 1

MalaCards integrated aliases for Imerslund-Grasbeck Syndrome 1:

Name: Imerslund-Grasbeck Syndrome 1 57 73
Pernicious Anemia, Juvenile, Due to Selective Intestinal Malabsorption of Vitamin B12, with Proteinuria 57 73 6
Megaloblastic Anemia, Finnish Type 57 73
Enterocyte Cobalamin Malabsorption 57 73
Imerslund-Gräsbeck Syndrome 1 29 6
Mga1 57 73
Igs1 57 73
Enterocyte Intrinsic Factor Receptor, Defect of 57
Defect of Enterocyte Intrinsic Factor Receptor 73
Megaloblastic Anemia, 1; Mga1 57
Anemia, Megaloblastic, Type 1 39
Megaloblastic Anemia, 1 57
Megaloblastic Anemia 1 73

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive

Miscellaneous:
early childhood onset (before age 5 years)
some patients may present in the second decade with neurologic symptoms due to chronic vitamin b12 deficiency
treatment with vitamin b12 resolves the anemia and neurologic symptoms
proteinuria is persistent without progressive renal dysfunction


HPO:

31
imerslund-grasbeck syndrome 1:
Inheritance autosomal recessive inheritance
Onset and clinical course childhood onset


Classifications:



External Ids:

OMIM® 57 261100
OMIM Phenotypic Series 57 PS261100
MeSH 44 D000749

Summaries for Imerslund-Grasbeck Syndrome 1

OMIM® : 57 Imerslund-Grasbeck syndrome-1 (IGS1) is an autosomal recessive disorder characterized by onset of megaloblastic anemia associated with decreased serum vitamin B12 (cobalamin, Cbl) in infancy or early childhood. Low molecular weight (LMW) proteinuria is frequently present, but sometimes occurs later and is usually mild or subclinical. Patients often present with vague symptoms, including failure to thrive, loss of appetite, fatigue, lethargy, and/or recurrent infections. Some patients may present later in childhood with neurologic abnormalities related to B12 deficiency, such as sensorimotor neuropathy and/or cognitive disturbances. Treatment with vitamin B12 results in sustained clinical improvement of the anemia and resolution of the neurologic symptoms, if present. The proteinuria is nonprogressive, and affected individuals do not have deterioration of kidney function; correct diagnosis is important to prevent unnecessary treatment. The disorder results from a combination of vitamin B12 deficiency due to selective malabsorption of the vitamin, and impaired reabsorption of LMW proteins in the proximal renal tubule. These defects are caused by disruption of the AMN (605799)/CUBN complex that forms the 'cubam' receptor responsible for intestinal uptake of B12/GIF (CBLIF; 609342). In the kidney, AMN/CUBN interacts with the endocytic receptor megalin (LRP2; 600073), which is important for the reabsorption of plasma proteins (summary by Grasbeck, 2006, Storm et al., 2011, Storm et al., 2013). (261100) (Updated 05-Mar-2021)

MalaCards based summary : Imerslund-Grasbeck Syndrome 1, also known as pernicious anemia, juvenile, due to selective intestinal malabsorption of vitamin b12, with proteinuria, is related to 3-methylglutaconic aciduria, type i and megaloblastic anemia. An important gene associated with Imerslund-Grasbeck Syndrome 1 is CUBN (Cubilin), and among its related pathways/superpathways are HIV Life Cycle and Metabolism of water-soluble vitamins and cofactors. Affiliated tissues include kidney and skin, and related phenotypes are proteinuria and paresthesia

UniProtKB/Swiss-Prot : 73 Imerslund-Grasbeck syndrome 1: A form of Imerslund-Grasbeck syndrome, a rare autosomal recessive disorder characterized by vitamin B12 deficiency commonly resulting in megaloblastic anemia, which is responsive to parenteral vitamin B12 therapy and appears in infancy or early childhood. Clinical manifestations include failure to thrive, infections and neurological damage. Mild proteinuria, with no signs of kidney disease, is present in about half of the patients.

Related Diseases for Imerslund-Grasbeck Syndrome 1

Diseases in the Imerslund-Grasbeck Syndrome 1 family:

Imerslund-Grasbeck Syndrome 2

Diseases related to Imerslund-Grasbeck Syndrome 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 13)
# Related Disease Score Top Affiliating Genes
1 3-methylglutaconic aciduria, type i 31.1 TRAF3 CUBN AMN
2 megaloblastic anemia 30.7 TRAF3 CUBN AMN
3 autosomal recessive disease 10.0
4 deficiency anemia 9.9
5 dermatitis, atopic 9.9
6 trichosporonosis 9.9
7 dermatitis 9.9
8 overgrowth syndrome 9.9
9 3-methylglutaconic aciduria 9.7 CUBN AMN
10 congenital intrinsic factor deficiency 9.6 CUBN AMN
11 vitamin metabolic disorder 9.6 CUBN AMN
12 donnai-barrow syndrome 9.5 CUBN AMN
13 vitamin b12 deficiency 9.4 CUBN AMN

Graphical network of the top 20 diseases related to Imerslund-Grasbeck Syndrome 1:



Diseases related to Imerslund-Grasbeck Syndrome 1

Symptoms & Phenotypes for Imerslund-Grasbeck Syndrome 1

Human phenotypes related to Imerslund-Grasbeck Syndrome 1:

31 (show all 8)
# Description HPO Frequency HPO Source Accession
1 proteinuria 31 HP:0000093
2 paresthesia 31 HP:0003401
3 sensory impairment 31 HP:0003474
4 dementia 31 HP:0000726
5 confusion 31 HP:0001289
6 megaloblastic anemia 31 HP:0001889
7 malabsorption of vitamin b12 31 HP:0200118
8 vitamin b12 deficiency 31 HP:0100502

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Growth Other:
failure to thrive
poor overall growth

Neurologic Peripheral Nervous System:
peripheral neuropathy
sensory impairment
paresthesias

Abdomen Gastrointestinal:
malabsorption of vitamin b12 (cyanocobalamin)
normal intrinsic factor protein

Immunology:
no antibodies to intrinsic factor

Laboratory Abnormalities:
proteinuria
decreased serum vitamin b12
normal serum folate levels

Neurologic Central Nervous System:
confusion
cognitive disturbances
neurologic symptoms due to vitamin b12 deficiency (in some patients)

Hematology:
megaloblastic anemia, chronic, relapsing
pernicious anemia, not influenced by intrinsic factor

Clinical features from OMIM®:

261100 (Updated 05-Mar-2021)

Drugs & Therapeutics for Imerslund-Grasbeck Syndrome 1

Search Clinical Trials , NIH Clinical Center for Imerslund-Grasbeck Syndrome 1

Genetic Tests for Imerslund-Grasbeck Syndrome 1

Genetic tests related to Imerslund-Grasbeck Syndrome 1:

# Genetic test Affiliating Genes
1 Imerslund-Gräsbeck Syndrome 1 29 CUBN

Anatomical Context for Imerslund-Grasbeck Syndrome 1

MalaCards organs/tissues related to Imerslund-Grasbeck Syndrome 1:

40
Kidney, Skin

Publications for Imerslund-Grasbeck Syndrome 1

Articles related to Imerslund-Grasbeck Syndrome 1:

(show top 50) (show all 122)
# Title Authors PMID Year
1
Profound vitamin D deficiency in four siblings with Imerslund-Grasbeck syndrome with homozygous CUBN mutation. 6 57
31497480 2019
2
Detailed investigations of proximal tubular function in Imerslund-Gräsbeck syndrome. 6 57
24156255 2013
3
A patient with cubilin deficiency. 57 6
21208123 2011
4
Imerslund-Gräsbeck syndrome in a 15-year-old German girl caused by compound heterozygous mutations in CUBN. 6 57
17668238 2008
5
Cubilin P1297L mutation associated with hereditary megaloblastic anemia 1 causes impaired recognition of intrinsic factor-vitamin B(12) by cubilin. 6 57
10887099 2000
6
Mutations in CUBN, encoding the intrinsic factor-vitamin B12 receptor, cubilin, cause hereditary megaloblastic anaemia 1. 57 6
10080186 1999
7
Imerslund-Gräsbeck syndrome (selective vitamin B(12) malabsorption with proteinuria). 57
16722557 2006
8
Hereditary juvenile cobalamin deficiency caused by mutations in the intrinsic factor gene. 57
15738392 2005
9
The functional cobalamin (vitamin B12)-intrinsic factor receptor is a novel complex of cubilin and amnionless. 57
14576052 2004
10
Late onset of Imerslund-Gräsbeck syndrome without proteinuria in four children of one family from the Lebanon. 57
14593474 2003
11
Cubilin dysfunction causes abnormal metabolism of the steroid hormone 25(OH) vitamin D(3). 57
11717447 2001
12
The human intrinsic factor-vitamin B12 receptor, cubilin: molecular characterization and chromosomal mapping of the gene to 10p within the autosomal recessive megaloblastic anemia (MGA1) region. 57
9572993 1998
13
Inborn error of vitamin B12 metabolism: a treatable cause of childhood dementia/paralysis. 57
9620017 1998
14
A case report of 46,XX,del(21)(q22) de novo deletion associated with Imerslund-Grasbeck syndrome. 57
9001810 1996
15
Selective intestinal malabsorption of vitamin B12 displays recessive mendelian inheritance: assignment of a locus to chromosome 10 by linkage. 57
7573042 1995
16
Imerslund-Grasbeck syndrome in a Chinese family with distinct skin lesions refractory to vitamin B12. 57
7962612 1994
17
Absent ileal uptake of IF-bound vitamin B12 in vivo in the Imerslund-Grasbeck syndrome (familial vitamin B12 malabsorption with proteinuria). 57
3972280 1985
18
Congenital B12-malabsorption without proteinuria. 57
7260408 1981
19
[Selective malabsorption of vitamin B 12 (Imerslund's disease) and its treatment. Apropos of 2 cases]. 57
1217951 1975
20
Inheritance of selective malabsorption of vitamin B12. 57
4756428 1973
21
Familial selective vitamin B 12 malabsorption. 57
5041707 1972
22
Ileal mucosa in familial selective vitamin B 12 malabsorption. 57
5016373 1972
23
Familial selective malabsorption of vitamin B 12. Re-evaluation of an in vivo intrinsic-factor inhibitor. 57
5663186 1968
24
Juvenile familial megaloblastic anaemia due to selective malabsorption of vitamin B-12. A family study and a review of the literature. 57
5956445 1966
25
JUVENILE PERNICIOUS ANEMIA. 57
14198065 1964
26
Familial juvenile pernicious anaemia: a study of the hereditary basis of pernicious anaemia. 57
13999146 1963
27
Pernicious anaemia in childhood. A report of two cases in one family and their relationship to the aetiology of pernicious anaemia. 57
13758448 1961
28
Selective vitamin B12 malabsorption and proteinuria in young people. A syndrome. 57
13828999 1960
29
[Familiar selective vitamin B12 malabsorption with proteinuria. A pernicious anemia-like syndrome]. 57
13828996 1960
30
Addisonian pernicious anaemia without gastric atrophy in a young man. 57
13240016 1955
31
Correlation of Trichosporon asahii Genotypes with Anatomical Sites and Antifungal Susceptibility Profiles: Data Analyses from 284 Isolates Collected in the Last 22 Years across 24 Medical Centers. 61
33318016 2021
32
Multiple Niche Compartments Orchestrate Stepwise Germline Stem Cell Progeny Differentiation. 61
33357404 2020
33
The epidemiology, genotypes, antifungal susceptibility of Trichosporon species, and the impact of voriconazole on Trichosporon fungemia patients. 61
33358563 2020
34
High genetic variability of clinical and environmental Cryptococcus gattii isolates from Brazil. 61
32343345 2020
35
Epidemiological investigation for grouped cases of Trichosporon asahii using whole genome and IGS1 sequencing. 61
32506754 2020
36
Molecular Identification, Genotyping, Phenotyping, and Antifungal Susceptibilities of Medically Important Trichosporon, Apiotrichum, and Cutaneotrichosporon Species. 61
31776790 2020
37
Candida kefyr in Kuwait: Prevalence, antifungal drug susceptibility and genotypic heterogeneity. 61
33108361 2020
38
Species distribution and antifungal susceptibility of 358 Trichosporon clinical isolates collected in 24 medical centres. 61
30991116 2019
39
Molecular identification and biological characteristic analysis of an Apiotrichum mycotoxinivorans (formerly Trichosporon mycotoxinivorans) strain isolated from sputum specimens of a pediatric patient with pneumonia. 61
30898449 2019
40
Complicated urinary tract infection by Trichosporon loubieri. 61
31080715 2019
41
Identification, genotyping, and pathogenicity of Trichosporon spp. Isolated from Giant pandas (Ailuropoda melanoleuca). 61
31138125 2019
42
Invasive Infections Due to Trichosporon: Species Distribution, Genotyping, and Antifungal Susceptibilities from a Multicenter Study in China. 61
30463892 2019
43
Rapid and Simple Detection of Trichosporon asahii by Optimized Colony PCR. 61
31218222 2019
44
The Reliability of DNA Sequences in Public Databases Belonging to the Most Economically Important Shiitake Culinary-Medicinal Mushroom Lentinus edodes (Agaricomycetes) in Asia. 61
32464014 2019
45
Sequence-based identification, genotyping and virulence factors of Trichosporon asahii strains isolated from urine samples of hospitalized patients (2011-2016). 61
29983233 2018
46
Morphological and molecular evidence for two new species in Lepiota from China. 61
29932817 2018
47
Molecular epidemiology of a Malassezia pachydermatis neonatal unit outbreak. 61
28371911 2018
48
Mitochondrial genomes of blister beetles (Coleoptera, Meloidae) and two large intergenic spacers in Hycleus genera. 61
28874137 2017
49
Molecular and antifungal susceptibility study on trichosporonemia and emergence of Trichosporon mycotoxinivorans as a bloodstream pathogen. 61
27816903 2017
50
Specificity and genetic diversity of xylose-fermenting Scheffersomyces yeasts associated with small blue stag beetles of the genus Platycerus in East Asia. 61
29140770 2017

Variations for Imerslund-Grasbeck Syndrome 1

ClinVar genetic disease variations for Imerslund-Grasbeck Syndrome 1:

6 (show top 50) (show all 651)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CUBN CUBN, IVS6, C-G SNV Pathogenic 6690
2 CUBN NM_001081.3(CUBN):c.3329+1G>T SNV Pathogenic 30291 rs1205598688 10:17089412-17089412 10:17047413-17047413
3 CUBN NM_001081.4(CUBN):c.3335G>A (p.Gly1112Glu) SNV Pathogenic 873111 10:17088088-17088088 10:17046089-17046089
4 CUBN NM_001081.4(CUBN):c.4689_4690delinsAT (p.Cys1563_Ile1564delinsTer) Indel Pathogenic 974519 10:17024488-17024489 10:16982489-16982490
5 CUBN NM_001081.3(CUBN):c.6928_6934del (p.Glu2310fs) Deletion Pathogenic 189227 rs757649673 10:16960687-16960693 10:16918688-16918694
6 CUBN NM_001081.3(CUBN):c.7955C>A (p.Ser2652Ter) SNV Pathogenic 522697 rs1554790861 10:16946072-16946072 10:16904073-16904073
7 CUBN NM_001081.3(CUBN):c.5511dup (p.Gly1838fs) Duplication Pathogenic 522509 rs1168074679 10:16982067-16982068 10:16940068-16940069
8 TRAF3 NC_000014.9:g.(?_102870182)_(102930700_?)del Deletion Pathogenic 532214 14:103336519-103397037 14:102870182-102930700
9 CUBN NM_001081.3(CUBN):c.7906C>T (p.Arg2636Ter) SNV Pathogenic 569408 rs137998687 10:16948208-16948208 10:16906209-16906209
10 CUBN NM_001081.3(CUBN):c.5530C>T (p.Gln1844Ter) SNV Pathogenic 579557 rs1564435943 10:16982049-16982049 10:16940050-16940050
11 CUBN NM_001081.3(CUBN):c.5428C>T (p.Arg1810Ter) SNV Pathogenic 581662 rs143944436 10:16982151-16982151 10:16940152-16940152
12 CUBN NM_001081.3(CUBN):c.5600del (p.Phe1867fs) Deletion Pathogenic 599082 rs747417629 10:16981095-16981095 10:16939096-16939096
13 CUBN NM_001081.4(CUBN):c.7330C>T (p.Arg2444Ter) SNV Pathogenic 838702 10:16957052-16957052 10:16915053-16915053
14 CUBN NM_001081.4(CUBN):c.10245C>A (p.Tyr3415Ter) SNV Pathogenic 836099 10:16877130-16877130 10:16835131-16835131
15 CUBN NM_001081.3(CUBN):c.3890C>T (p.Pro1297Leu) SNV Pathogenic 6689 rs121434430 10:17083159-17083159 10:17041160-17041160
16 CUBN NM_001081.4(CUBN):c.2614_2615del (p.Asp872fs) Deletion Pathogenic 56330 rs386833777 10:17113435-17113436 10:17071436-17071437
17 CUBN NM_001081.4(CUBN):c.703C>T (p.Arg235Ter) SNV Pathogenic 942574 10:17157487-17157487 10:17115488-17115488
18 CUBN NM_001081.4(CUBN):c.7095G>A (p.Trp2365Ter) SNV Pathogenic 936927 10:16957935-16957935 10:16915936-16915936
19 CUBN NM_001081.4(CUBN):c.2305C>T (p.Arg769Ter) SNV Pathogenic 937337 10:17113967-17113967 10:17071968-17071968
20 AMN NM_030943.4(AMN):c.791dup (p.Phe265fs) Duplication Pathogenic 937588 14:103396021-103396022 14:102929684-102929685
21 AMN NM_030943.4(AMN):c.208-2A>G SNV Pathogenic 56751 rs386834170 14:103394761-103394761 14:102928424-102928424
22 AMN NM_030943.3(AMN):c.742C>T (p.Gln248Ter) SNV Pathogenic 56759 rs386834177 14:103395855-103395855 14:102929518-102929518
23 CUBN NM_001081.3(CUBN):c.4459C>T (p.Arg1487Ter) SNV Pathogenic 575738 rs145661597 10:17026170-17026170 10:16984171-16984171
24 CUBN NM_001081.4(CUBN):c.1010C>T (p.Pro337Leu) SNV Pathogenic 873110 10:17152923-17152923 10:17110924-17110924
25 CUBN NM_001081.4(CUBN):c.9053A>C (p.Tyr3018Ser) SNV Likely pathogenic 522507 rs370778353 10:16918949-16918949 10:16876950-16876950
26 CUBN NM_001081.3(CUBN):c.1865del (p.Thr622fs) Deletion Likely pathogenic 56323 rs386833771 10:17130245-17130245 10:17088246-17088246
27 CUBN NM_001081.4(CUBN):c.7534-1G>T SNV Likely pathogenic 829919 rs1588639188 10:16949679-16949679 10:16907680-16907680
28 CUBN NM_001081.4(CUBN):c.6088C>T (p.Arg2030Ter) SNV Likely pathogenic 829936 rs374417889 10:16975122-16975122 10:16933123-16933123
29 CUBN NM_001081.4(CUBN):c.4973del (p.Asn1658fs) Deletion Likely pathogenic 829940 rs1588511533 10:16992107-16992107 10:16950108-16950108
30 CUBN NM_001081.4(CUBN):c.7001-2A>T SNV Likely pathogenic 850031 10:16958031-16958031 10:16916032-16916032
31 CUBN NM_001081.3(CUBN):c.10285dup (p.Gln3429fs) Duplication Likely pathogenic 590812 rs754704005 10:16877089-16877090 10:16835090-16835091
32 CUBN NM_001081.4(CUBN):c.4460_4464del (p.Arg1487fs) Deletion Likely pathogenic 667368 rs770921101 10:17026165-17026169 10:16984166-16984170
33 CUBN NM_001081.4(CUBN):c.6095G>A (p.Cys2032Tyr) SNV Likely pathogenic 695032 rs201720797 10:16975115-16975115 10:16933116-16933116
34 AMN NM_030943.3(AMN):c.844-1G>C SNV Likely pathogenic 567966 rs969552874 14:103396260-103396260 14:102929923-102929923
35 AMN NM_030943.3(AMN):c.760+1G>A SNV Likely pathogenic 532205 rs1555381485 14:103395874-103395874 14:102929537-102929537
36 CUBN NM_001081.3(CUBN):c.4921del (p.Tyr1641fs) Deletion Likely pathogenic 599133 rs1564443979 10:16994323-16994323 10:16952324-16952324
37 CUBN NM_001081.3(CUBN):c.9949C>T (p.Gln3317Ter) SNV Likely pathogenic 599134 rs1564379463 10:16882412-16882412 10:16840413-16840413
38 CUBN NM_001081.4(CUBN):c.5549-2A>C SNV Likely pathogenic 599158 rs1564435513 10:16981148-16981148 10:16939149-16939149
39 CUBN NM_001081.4(CUBN):c.3473G>A (p.Trp1158Ter) SNV Likely pathogenic 599173 rs1564492988 10:17087950-17087950 10:17045951-17045951
40 AMN NM_030943.3(AMN):c.1253dup (p.Leu419fs) Duplication Likely pathogenic 56746 rs386834165 14:103396825-103396826 14:102930488-102930489
41 AMN NM_030943.3(AMN):c.1257+10C>T SNV Likely pathogenic 56747 rs386834166 14:103396840-103396840 14:102930503-102930503
42 AMN NM_030943.3(AMN):c.1312_1313CA[1] (p.His438fs) Microsatellite Likely pathogenic 56748 rs386834167 14:103396967-103396968 14:102930630-102930631
43 AMN NM_030943.3(AMN):c.14del (p.Gly5fs) Deletion Likely pathogenic 56749 rs386834168 14:103389037-103389037 14:102922700-102922700
44 AMN NM_030943.3(AMN):c.208-1G>C SNV Likely pathogenic 56750 rs386834169 14:103394762-103394762 14:102928425-102928425
45 AMN NM_030943.4(AMN):c.208-2A>G SNV Likely pathogenic 56751 rs386834170 14:103394761-103394761 14:102928424-102928424
46 AMN NM_030943.3(AMN):c.295+1del Deletion Likely pathogenic 56752 rs386834171 14:103394849-103394849 14:102928512-102928512
47 AMN NM_030943.3(AMN):c.43+1G>T SNV Likely pathogenic 56753 rs386834172 14:103389069-103389069 14:102922732-102922732
48 AMN NM_030943.3(AMN):c.468dup (p.Gly157fs) Duplication Likely pathogenic 56754 rs386834173 14:103395266-103395267 14:102928929-102928930
49 AMN NM_030943.3(AMN):c.514-34G>A SNV Likely pathogenic 56755 rs144077391 14:103395424-103395424 14:102929087-102929087
50 AMN NM_030943.3(AMN):c.663G>A (p.Trp221Ter) SNV Likely pathogenic 56756 rs386834174 14:103395776-103395776 14:102929439-102929439

UniProtKB/Swiss-Prot genetic disease variations for Imerslund-Grasbeck Syndrome 1:

73
# Symbol AA change Variation ID SNP ID
1 CUBN p.Pro1297Leu VAR_025288 rs121434430

Expression for Imerslund-Grasbeck Syndrome 1

Search GEO for disease gene expression data for Imerslund-Grasbeck Syndrome 1.

Pathways for Imerslund-Grasbeck Syndrome 1

Pathways related to Imerslund-Grasbeck Syndrome 1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.87 TRAF3 CUBN AMN
2
Show member pathways
11.97 CUBN AMN
3
Show member pathways
11.79 CUBN AMN
4
Show member pathways
11.12 CUBN AMN
5 10.28 CUBN AMN
6
Show member pathways
9.47 CUBN AMN

GO Terms for Imerslund-Grasbeck Syndrome 1

Cellular components related to Imerslund-Grasbeck Syndrome 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endosome GO:0005768 9.43 TRAF3 CUBN AMN
2 apical plasma membrane GO:0016324 9.4 CUBN AMN
3 endosome membrane GO:0010008 9.37 CUBN AMN
4 apical part of cell GO:0045177 9.32 CUBN AMN
5 clathrin-coated pit GO:0005905 9.16 CUBN AMN
6 endocytic vesicle GO:0030139 8.96 CUBN AMN
7 brush border membrane GO:0031526 8.62 CUBN AMN

Biological processes related to Imerslund-Grasbeck Syndrome 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 receptor-mediated endocytosis GO:0006898 9.26 CUBN AMN
2 cobalamin metabolic process GO:0009235 9.16 CUBN AMN
3 high-density lipoprotein particle clearance GO:0034384 8.96 CUBN AMN
4 cobalamin transport GO:0015889 8.62 CUBN AMN

Sources for Imerslund-Grasbeck Syndrome 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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