IGS1
MCID: IMR002
MIFTS: 43

Imerslund-Grasbeck Syndrome 1 (IGS1)

Categories: Blood diseases, Gastrointestinal diseases, Genetic diseases, Metabolic diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Imerslund-Grasbeck Syndrome 1

MalaCards integrated aliases for Imerslund-Grasbeck Syndrome 1:

Name: Imerslund-Grasbeck Syndrome 1 56
Imerslund-Grasbeck Syndrome 58 73 54
Imerslund-Gräsbeck Syndrome 1 29 6
Pernicious Anemia, Juvenile, Due to Selective Intestinal Malabsorption of Vitamin B12, with Proteinuria 56
Selective Cobalamin Malabsorption with Proteinuria 58
Enterocyte Intrinsic Factor Receptor, Defect of 56
Recessive Hereditary Megaloblastic Anemia 1 73
Megaloblastic Anemia, Finnish Type 56
Enterocyte Cobalamin Malabsorption 56
Megaloblastic Anemia, 1; Mga1 56
Familial Megaloblastic Anemia 58
Anemia, Megaloblastic, Type 1 39
Megaloblastic Anemia, 1 56
Mga1 Norwegian Type 73
Rh-Mga1 73
Mga1 56
Igs1 56
I-Gs 73

Characteristics:

Orphanet epidemiological data:

58
imerslund-grasbeck syndrome
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Finland),1-9/1000000 (Norway); Age of onset: Childhood;

OMIM:

56
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:

Orphanet: 58  
Rare gastroenterological diseases
Rare renal diseases
Inborn errors of metabolism
Rare haematological diseases


External Ids:

OMIM 56 261100
OMIM Phenotypic Series 56 PS261100
ICD10 via Orphanet 33 D51.1
UMLS via Orphanet 72 C1306856
Orphanet 58 ORPHA35858

Summaries for Imerslund-Grasbeck Syndrome 1

OMIM : 56 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 over time; 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)

MalaCards based summary : Imerslund-Grasbeck Syndrome 1, also known as imerslund-grasbeck syndrome, 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 Metabolism of water-soluble vitamins and cofactors and Lipoprotein metabolism. Affiliated tissues include kidney, skin and testes, and related phenotypes are proteinuria and paresthesia

UniProtKB/Swiss-Prot : 73 Recessive hereditary megaloblastic anemia 1: Due to selective malabsorption of vitamin B12. Defects in vitamin B12 absorption lead to impaired function of thymidine synthase. As a consequence DNA synthesis is interrupted. Rapidly dividing cells involved in erythropoiesis are particularly affected.

Related Diseases for Imerslund-Grasbeck Syndrome 1

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:

56
Laboratory Abnormalities:
proteinuria
decreased serum vitamin b12
normal serum folate levels

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

Growth Other:
failure to thrive
poor overall growth

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

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, Testes, Neutrophil

Publications for Imerslund-Grasbeck Syndrome 1

Articles related to Imerslund-Grasbeck Syndrome 1:

(show top 50) (show all 51)
# Title Authors PMID Year
1
Profound vitamin D deficiency in four siblings with Imerslund-Grasbeck syndrome with homozygous CUBN mutation. 61 56 6
31497480 2019
2
Cubilin P1297L mutation associated with hereditary megaloblastic anemia 1 causes impaired recognition of intrinsic factor-vitamin B(12) by cubilin. 54 56 6
10887099 2000
3
Detailed investigations of proximal tubular function in Imerslund-Gräsbeck syndrome. 6 56
24156255 2013
4
A patient with cubilin deficiency. 6 56
21208123 2011
5
Imerslund-Gräsbeck syndrome in a 15-year-old German girl caused by compound heterozygous mutations in CUBN. 6 56
17668238 2008
6
Mutations in CUBN, encoding the intrinsic factor-vitamin B12 receptor, cubilin, cause hereditary megaloblastic anaemia 1. 6 56
10080186 1999
7
Hereditary juvenile cobalamin deficiency caused by mutations in the intrinsic factor gene. 56 61
15738392 2005
8
A case report of 46,XX,del(21)(q22) de novo deletion associated with Imerslund-Grasbeck syndrome. 56 61
9001810 1996
9
Imerslund-Grasbeck syndrome in a Chinese family with distinct skin lesions refractory to vitamin B12. 56 61
7962612 1994
10
Absent ileal uptake of IF-bound vitamin B12 in vivo in the Imerslund-Grasbeck syndrome (familial vitamin B12 malabsorption with proteinuria). 56 61
3972280 1985
11
Imerslund-Gräsbeck syndrome (selective vitamin B(12) malabsorption with proteinuria). 56
16722557 2006
12
The functional cobalamin (vitamin B12)-intrinsic factor receptor is a novel complex of cubilin and amnionless. 56
14576052 2004
13
Late onset of Imerslund-Gräsbeck syndrome without proteinuria in four children of one family from the Lebanon. 56
14593474 2003
14
Cubilin dysfunction causes abnormal metabolism of the steroid hormone 25(OH) vitamin D(3). 56
11717447 2001
15
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. 56
9572993 1998
16
Inborn error of vitamin B12 metabolism: a treatable cause of childhood dementia/paralysis. 56
9620017 1998
17
Selective intestinal malabsorption of vitamin B12 displays recessive mendelian inheritance: assignment of a locus to chromosome 10 by linkage. 56
7573042 1995
18
Congenital B12-malabsorption without proteinuria. 56
7260408 1981
19
[Selective malabsorption of vitamin B 12 (Imerslund's disease) and its treatment. Apropos of 2 cases]. 56
1217951 1975
20
Inheritance of selective malabsorption of vitamin B12. 56
4756428 1973
21
Familial selective vitamin B 12 malabsorption. 56
5041707 1972
22
Ileal mucosa in familial selective vitamin B 12 malabsorption. 56
5016373 1972
23
Familial selective malabsorption of vitamin B 12. Re-evaluation of an in vivo intrinsic-factor inhibitor. 56
5663186 1968
24
Juvenile familial megaloblastic anaemia due to selective malabsorption of vitamin B-12. A family study and a review of the literature. 56
5956445 1966
25
JUVENILE PERNICIOUS ANEMIA. 56
14198065 1964
26
FAMILIAL VITAMIN B12 MALABSORPTION. 56
14045900 1963
27
Familial juvenile pernicious anaemia: a study of the hereditary basis of pernicious anaemia. 56
13999146 1963
28
[Specific malabsorption of vitamin B12 proteinuria. Megaloblastic anemia of Imerslund-Najman-Grasbeck. Study of 4 cases]. 56
14461868 1961
29
Pernicious anaemia in childhood. A report of two cases in one family and their relationship to the aetiology of pernicious anaemia. 56
13758448 1961
30
Selective vitamin B12 malabsorption and proteinuria in young people. A syndrome. 56
13828999 1960
31
[Familiar selective vitamin B12 malabsorption with proteinuria. A pernicious anemia-like syndrome]. 56
13828996 1960
32
Addisonian pernicious anaemia without gastric atrophy in a young man. 56
13240016 1955
33
Imerslund-Grasbeck syndrome in a 5-year-old Iranian boy. 61
27942180 2016
34
VIT. B12 DEFICIENCY IN CHILDREN (IMERSLUND-GRÄSBECK SYNDROME IN TWO PAIRS OF SIBLINGS). 61
26958680 2015
35
Reversible skin hyperpigmentation in Imerslund-Grasbeck syndrome. 61
24222293 2013
36
A long-term follow-up of an Imerslund-Grasbeck syndrome patient with proteinuria. 61
23364648 2013
37
Luminal expression of cubilin is impaired in Imerslund-Grasbeck syndrome with compound AMN mutations in intron 3 and exon 7. 61
21750092 2011
38
Unusual cause of childhood anemia: Imerslund Grasbeck syndrome. 61
22219566 2011
39
Marathon of eponyms: 9 Imerslund-Grasbeck syndrome (Juvenile pernicious anaemia). 61
20374509 2010
40
Imerslund-Grasbeck syndrome: association with diabetes mellitus. 61
19346573 2009
41
Imerslund-Grasbeck syndrome associated with recurrent aphthous stomatitis and defective neutrophil function. 61
17114957 2006
42
Nonradioactive vitamin B12 absorption test evaluated in controls and in patients with inherited malabsorption of vitamin B12. 61
16166166 2005
43
Linkage analysis of a large inbred family with congenital megaloblastic anemia. 61
12436132 2002
44
Genetic evidence of an accessory activity required specifically for cubilin brush-border expression and intrinsic factor-cobalamin absorption. 54
10552972 1999
45
Overexpression of an unstable intrinsic factor-cobalamin receptor in Imerslund-Gräsbeck syndrome. 54
9649473 1998
46
Reversal of severe neurological abnormalities after vitamin B12 replacement in the Imerslund-Grasbeck syndrome. 61
1940989 1991
47
Imerslund-Grasbeck syndrome in a Libyan boy. 61
2475066 1989
48
Megaloblastic anemia characterized by microcytosis: Imerslund-Grasbeck syndrome with coexistent alpha-thalassemia. 61
3368285 1988
49
[Familial selective vitamin B12 malabsorption (Imerslund-Grasbeck syndrome)--a case report]. 61
6226387 1983
50
Failure to thrive associated with the Imerslund-Grasbeck syndrome. 61
7301700 1981

Variations for Imerslund-Grasbeck Syndrome 1

ClinVar genetic disease variations for Imerslund-Grasbeck Syndrome 1:

6 (show top 50) (show all 532) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CUBN NM_001081.3(CUBN):c.5511dup (p.Gly1838fs)duplication Pathogenic 522509 rs1168074679 10:16982067-16982068 10:16940068-16940069
2 CUBN NM_001081.3(CUBN):c.7955C>A (p.Ser2652Ter)SNV Pathogenic 522697 rs1554790861 10:16946072-16946072 10:16904073-16904073
3 AMN NC_000014.9:g.(?_102870182)_(102930700_?)deldeletion Pathogenic 532214 14:103336519-103397037 14:102870182-102930700
4 CUBN NM_001081.3(CUBN):c.5428C>T (p.Arg1810Ter)SNV Pathogenic 581662 rs143944436 10:16982151-16982151 10:16940152-16940152
5 CUBN NM_001081.3(CUBN):c.5530C>T (p.Gln1844Ter)SNV Pathogenic 579557 rs1564435943 10:16982049-16982049 10:16940050-16940050
6 CUBN NM_001081.3(CUBN):c.4459C>T (p.Arg1487Ter)SNV Pathogenic 575738 rs145661597 10:17026170-17026170 10:16984171-16984171
7 CUBN NM_001081.3(CUBN):c.7906C>T (p.Arg2636Ter)SNV Pathogenic 569408 rs137998687 10:16948208-16948208 10:16906209-16906209
8 CUBN NM_001081.3(CUBN):c.5600del (p.Phe1867fs)deletion Pathogenic 599082 rs747417629 10:16981095-16981095 10:16939096-16939096
9 CUBN NM_001081.4(CUBN):c.7330C>T (p.Arg2444Ter)SNV Pathogenic 838702 10:16957052-16957052 10:16915053-16915053
10 CUBN NM_001081.4(CUBN):c.10245C>A (p.Tyr3415Ter)SNV Pathogenic 836099 10:16877130-16877130 10:16835131-16835131
11 CUBN NM_001081.4(CUBN):c.1010C>T (p.Pro337Leu)SNV Pathogenic 873110 10:17152923-17152923 10:17110924-17110924
12 CUBN NM_001081.4(CUBN):c.3335G>A (p.Gly1112Glu)SNV Pathogenic 873111 10:17088088-17088088 10:17046089-17046089
13 CUBN NM_001081.3(CUBN):c.3329+1G>TSNV Pathogenic 30291 rs1205598688 10:17089412-17089412 10:17047413-17047413
14 CUBN NM_001081.3(CUBN):c.1865del (p.Thr622fs)deletion Pathogenic 56323 rs386833771 10:17130245-17130245 10:17088246-17088246
15 CUBN NM_001081.3(CUBN):c.6928_6934del (p.Glu2310fs)deletion Pathogenic 189227 rs757649673 10:16960687-16960693 10:16918688-16918694
16 AMN NM_030943.3(AMN):c.14del (p.Gly5fs)deletion Pathogenic/Likely pathogenic 56749 rs386834168 14:103389037-103389037 14:102922700-102922700
17 CUBN NM_001081.4(CUBN):c.2614_2615del (p.Asp872fs)deletion Pathogenic/Likely pathogenic 56330 rs386833777 10:17113435-17113436 10:17071436-17071437
18 CUBN NM_001081.3(CUBN):c.3890C>T (p.Pro1297Leu)SNV Pathogenic/Likely pathogenic 6689 rs121434430 10:17083159-17083159 10:17041160-17041160
19 CUBN NM_001081.3(CUBN):c.2673C>A (p.Cys891Ter)SNV Likely pathogenic 56331 rs386833778 10:17110722-17110722 10:17068723-17068723
20 CUBN NM_001081.3(CUBN):c.2949C>A (p.Tyr983Ter)SNV Likely pathogenic 56332 rs386833779 10:17110122-17110122 10:17068123-17068123
21 CUBN NM_001081.3(CUBN):c.3056C>G (p.Ser1019Ter)SNV Likely pathogenic 56333 rs386833780 10:17107590-17107590 10:17065591-17065591
22 CUBN NM_001081.3(CUBN):c.3096del (p.Ala1031_Tyr1032insTer)deletion Likely pathogenic 56334 rs386833781 10:17107550-17107550 10:17065551-17065551
23 CUBN NM_001081.3(CUBN):c.3577T>G (p.Trp1193Gly)SNV Likely pathogenic 56335 rs386833783 10:17087101-17087101 10:17045102-17045102
24 CUBN NM_001081.3(CUBN):c.3749C>T (p.Ser1250Phe)SNV Likely pathogenic 56336 rs386833784 10:17085906-17085906 10:17043907-17043907
25 CUBN NM_001081.3(CUBN):c.3999C>A (p.Cys1333Ter)SNV Likely pathogenic 56337 rs386833785 10:17083050-17083050 10:17041051-17041051
26 CUBN NM_001081.3(CUBN):c.4115C>G (p.Thr1372Arg)SNV Likely pathogenic 56338 rs386833786 10:17061885-17061885 10:17019886-17019886
27 CUBN NM_001081.3(CUBN):c.4168G>A (p.Gly1390Ser)SNV Likely pathogenic 56339 rs386833787 10:17061832-17061832 10:17019833-17019833
28 CUBN NM_001081.3(CUBN):c.434G>A (p.Gly145Glu)SNV Likely pathogenic 56340 rs386833788 10:17165642-17165642 10:17123643-17123643
29 CUBN NM_001081.3(CUBN):c.489G>A (p.Lys163=)SNV Likely pathogenic 56341 rs386833789 10:17165587-17165587 10:17123588-17123588
30 CUBN NM_001081.3(CUBN):c.673T>A (p.Cys225Ser)SNV Likely pathogenic 56342 rs386833790 10:17157517-17157517 10:17115518-17115518
31 CUBN NM_001081.3(CUBN):c.889C>T (p.Gln297Ter)SNV Likely pathogenic 56343 rs386833791 10:17153044-17153044 10:17111045-17111045
32 AMN NM_030943.3(AMN):c.1006+16_1006+30deldeletion Likely pathogenic 56741 rs386834160 14:103396433-103396447 14:102930096-102930110
33 AMN NM_030943.3(AMN):c.1006+34_1007-31deldeletion Likely pathogenic 56742 rs386834161 14:103396445-103396459 14:102930108-102930122
34 AMN NM_030943.3(AMN):c.1006+36_1007-29deldeletion Likely pathogenic 56743 rs386834162 14:103396459-103396473 14:102930122-102930136
35 AMN NM_030943.3(AMN):c.1014_1021del (p.Leu339fs)deletion Likely pathogenic 56744 rs386834163 14:103396509-103396516 14:102930172-102930179
36 AMN NM_030943.3(AMN):c.208-1G>CSNV Likely pathogenic 56750 rs386834169 14:103394762-103394762 14:102928425-102928425
37 AMN NM_030943.3(AMN):c.208-2A>GSNV Likely pathogenic 56751 rs386834170 14:103394761-103394761 14:102928424-102928424
38 AMN NM_030943.3(AMN):c.295+1deldeletion Likely pathogenic 56752 rs386834171 14:103394849-103394849 14:102928512-102928512
39 AMN NM_030943.3(AMN):c.43+1G>TSNV Likely pathogenic 56753 rs386834172 14:103389069-103389069 14:102922732-102922732
40 AMN NM_030943.3(AMN):c.468dup (p.Gly157fs)duplication Likely pathogenic 56754 rs386834173 14:103395266-103395267 14:102928929-102928930
41 AMN NM_030943.3(AMN):c.514-34G>ASNV Likely pathogenic 56755 rs144077391 14:103395424-103395424 14:102929087-102929087
42 AMN NM_030943.3(AMN):c.663G>A (p.Trp221Ter)SNV Likely pathogenic 56756 rs386834174 14:103395776-103395776 14:102929439-102929439
43 AMN NM_030943.3(AMN):c.683_730del (p.Gln228_Leu243del)deletion Likely pathogenic 56757 rs386834175 14:103395792-103395839 14:102929455-102929502
44 AMN NM_030943.3(AMN):c.701G>T (p.Cys234Phe)SNV Likely pathogenic 56758 rs386834176 14:103395814-103395814 14:102929477-102929477
45 AMN NM_030943.3(AMN):c.742C>T (p.Gln248Ter)SNV Likely pathogenic 56759 rs386834177 14:103395855-103395855 14:102929518-102929518
46 AMN NM_030943.3(AMN):c.761G>A (p.Gly254Glu)SNV Likely pathogenic 56760 rs386834178 14:103395992-103395992 14:102929655-102929655
47 AMN NM_030943.3(AMN):c.974_977dup (p.Ala327fs)duplication Likely pathogenic 56761 rs386834179 14:103396389-103396390 14:102930052-102930053
48 CUBN NM_001081.3(CUBN):c.3330-439C>GSNV Likely pathogenic 56802 rs386833782 10:17088532-17088532 10:17046533-17046533
49 CUBN NM_001081.3(CUBN):c.1951C>T (p.Arg651Ter)SNV Likely pathogenic 56324 rs182512508 10:17127755-17127755 10:17085756-17085756
50 CUBN NM_001081.3(CUBN):c.2068A>G (p.Ile690Val)SNV Likely pathogenic 56325 rs386833772 10:17127638-17127638 10:17085639-17085639

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

73
# Symbol AA change Variation ID SNP ID
1 AMN p.Thr41Ile VAR_015733 rs119478058
2 AMN p.Met69Lys VAR_081906 rs375774640
3 AMN p.Cys234Phe VAR_081907 rs386834176
4 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
11.93 CUBN AMN
2
Show member pathways
11.79 CUBN AMN
3
Show member pathways
11.12 CUBN AMN
4 10.28 CUBN AMN
5
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 9.4 CUBN AMN
2 apical plasma membrane GO:0016324 9.37 CUBN AMN
3 endosome membrane GO:0010008 9.32 CUBN AMN
4 apical part of cell GO:0045177 9.26 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 protein transport GO:0015031 9.32 CUBN AMN
2 receptor-mediated endocytosis GO:0006898 9.26 CUBN AMN
3 cobalamin metabolic process GO:0009235 9.16 CUBN AMN
4 high-density lipoprotein particle clearance GO:0034384 8.96 CUBN AMN
5 cobalamin transport GO:0015889 8.62 CUBN AMN

Sources for Imerslund-Grasbeck Syndrome 1

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57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
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72 UMLS via Orphanet
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