IGS2
MCID: IMR003
MIFTS: 21

Imerslund-Grasbeck Syndrome 2 (IGS2)

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

Aliases & Classifications for Imerslund-Grasbeck Syndrome 2

MalaCards integrated aliases for Imerslund-Grasbeck Syndrome 2:

Name: Imerslund-Grasbeck Syndrome 2 56 6
Megaloblastic Anemia, Norwegian Type 56
Igs2 56

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
early childhood onset (before age 5 years)
patients often present with vague symptoms
proteinuria is nonprogressive
treatment with vitamin b12 resolves the anemia
high frequency among the norwegian population


Classifications:



External Ids:

OMIM 56 618882
OMIM Phenotypic Series 56 PS261100

Summaries for Imerslund-Grasbeck Syndrome 2

OMIM : 56 Imerslund-Grasbeck syndrome-2 (IGS2) 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 usually 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. Treatment with vitamin B12 results in sustained clinical improvement of the anemia. 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/CUBN (602997) 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, De Filippo et al., 2013, and Storm et al., 2013). For a discussion of genetic heterogeneity of Imerslund-Grasbeck syndrome, see 261100. (618882)

MalaCards based summary : Imerslund-Grasbeck Syndrome 2, is also known as megaloblastic anemia, norwegian type. An important gene associated with Imerslund-Grasbeck Syndrome 2 is AMN (Amnion Associated Transmembrane Protein). Affiliated tissues include kidney.

Related Diseases for Imerslund-Grasbeck Syndrome 2

Diseases in the Imerslund-Grasbeck Syndrome 1 family:

Imerslund-Grasbeck Syndrome 2

Symptoms & Phenotypes for Imerslund-Grasbeck Syndrome 2

Symptoms via clinical synopsis from OMIM:

56
Growth Other:
failure to thrive

Genitourinary Kidneys:
normal renal function
no kidney disease

Laboratory Abnormalities:
normal serum folate levels
proteinuria, mild
decreased levels of serum vitamin b12

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

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

Neurologic Central Nervous System:
lethargy due to anemia
tiredness due to anemia

Clinical features from OMIM:

618882

Drugs & Therapeutics for Imerslund-Grasbeck Syndrome 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Study of PtiO2 Variation by Body Temperature and Capnia in Severe Head Trauma Patients With Intracranial Refractory Hypertension Treated With Targeted Temperature Control Recruiting NCT04109430

Search NIH Clinical Center for Imerslund-Grasbeck Syndrome 2

Genetic Tests for Imerslund-Grasbeck Syndrome 2

Anatomical Context for Imerslund-Grasbeck Syndrome 2

MalaCards organs/tissues related to Imerslund-Grasbeck Syndrome 2:

40
Kidney

Publications for Imerslund-Grasbeck Syndrome 2

Articles related to Imerslund-Grasbeck Syndrome 2:

(show all 40)
# Title Authors PMID Year
1
Novel compound heterozygous mutations in AMN cause Imerslund-Gräsbeck syndrome in two half-sisters: a case report. 56 6
26040326 2015
2
Detailed investigations of proximal tubular function in Imerslund-Gräsbeck syndrome. 6 56
24156255 2013
3
Genetic heterogeneity of megaloblastic anaemia type 1 in Tunisian patients. 56 6
17285242 2007
4
Amnionless, essential for mouse gastrulation, is mutated in recessive hereditary megaloblastic anemia. 6 56
12590260 2003
5
Imerslund-Gräsbeck anemia. A long-term follow-up study. 6 56
6741523 1984
6
Molecular study of proteinuria in patients treated with B₁₂ supplements: do not forget megaloblastic anemia type 1. 56
21150213 2011
7
Imerslund-Gräsbeck syndrome (selective vitamin B(12) malabsorption with proteinuria). 56
16722557 2006
8
Genetically heterogeneous selective intestinal malabsorption of vitamin B12: founder effects, consanguinity, and high clinical awareness explain aggregations in Scandinavia and the Middle East. 56
15024727 2004
9
The functional cobalamin (vitamin B12)-intrinsic factor receptor is a novel complex of cubilin and amnionless. 56
14576052 2004
10
Canine Imerslund-Gräsbeck syndrome maps to a region orthologous to HSA14q. 56
14722725 2003
11
FAMILIAL VITAMIN B12 MALABSORPTION. 56
14045900 1963
12
[Specific malabsorption of vitamin B12 proteinuria. Megaloblastic anemia of Imerslund-Najman-Grasbeck. Study of 4 cases]. 56
14461868 1961
13
Selective vitamin B12 malabsorption and proteinuria in young people. A syndrome. 56
13828999 1960
14
Idiopathic chronic megaloblastic anemia in children. 6
13852753 1960
15
Loop-Mediated Isothermal Amplification for the Diagnostic Detection of Meloidogyne chitwoodi and M. fallax. 61
30358508 2019
16
Endogenous single-strand DNA breaks at RNA polymerase II promoters in Saccharomyces cerevisiae. 61
30445637 2018
17
Population structure and migration of the Tobacco Blue Mold Pathogen, Peronospora tabacina, into North America and Europe. 61
29218863 2018
18
Mitochondrial genomes of blister beetles (Coleoptera, Meloidae) and two large intergenic spacers in Hycleus genera. 61
28874137 2017
19
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
20
First record of the root knot nematode, <i>Meloidogyne</i> <i>minor</i> in New Zealand with description, sequencing information and key to known species of <i>Meloidogyne</i> in New Zealand. 61
28187538 2017
21
Short- and long-term outcomes of AL amyloidosis patients admitted into intensive care units. 61
27292694 2016
22
First Report of the Root-Knot Nematode Meloidogyne enterolobii Infecting Jujube in China. 61
30704003 2014
23
First Report of Meloidogyne enterolobii on Carrot in China. 61
30708858 2014
24
Occurrence of Meloidogyne fallax in North America, and Molecular Characterization of M. fallax and M. minor from U.S. Golf Course Greens. 61
30708461 2013
25
Organellar genome, nuclear ribosomal DNA repeat unit, and microsatellites isolated from a small-scale of 454 GS FLX sequencing on two mosses. 61
23261712 2013
26
[Monitoring aminoglycosides in an Intensive Care Unit]. 61
19793633 2010
27
Evolutionary implications of lactate dehydrogenases (LDHs) of hagfishes compared to lampreys: LDH cDNA sequences from Eptatretus burgeri, Paramyxine atami and Eptatretus okinoseanus. 61
18558799 2008
28
[Molecular genetic characterization of the yeast Lachancea kluyveri]. 61
17633411 2007
29
Genetic polymorphism of ferula mushroom growing on Ferula sinkiangensis. 61
16200340 2006
30
[Molecular markers for differentiation between the closely related dairy yeast Kluyveromyces lactis var. lactis and wild Kluyveromyces lactis strains from the European "krassilnikovii" population]. 61
16119853 2005
31
[The molecular genetic differentiation of cultured Saccharomyces strains]. 61
15938398 2005
32
Molecular-genetic differentiation of the dairy yeast Kluyveromyces lactis and its closest wild relatives. 61
15556088 2004
33
Ribosomal DNA variation, recombination and inheritance in the basidiomycete Trichaptum abietinum: implications for reticulate evolution. 61
12886283 2003
34
Characterization of subrepeat regions within rDNA intergenic spacers of the edible basidiomycete Lentinula edodes. 61
12450123 2002
35
Polymorphism at the ribosomal DNA spacers and its relation to breeding structure of the widespread mushroom Schizophyllum commune. 61
11139499 2001
36
Rapid differentiation of the closely related Kluyveromyces lactis var. lactis and K. marxianus strains isolated from dairy products using selective media and PCR/RFLP of the rDNA non transcribed spacer 2. 61
11142401 2000
37
Ribosomal DNA, species structure, and biogeography of the cactophilic yeast Clavispora opuntiae. 61
10749533 2000
38
The nuclear rDNA intergenic spacer of the ectomycorrhizal basidiomycete Laccaria bicolor: structural analysis and allelic polymorphism. 61
10439399 1999
39
Small-subunit ribosomal DNA of an ectomycorrhizal fungus tricholoma matsutake: sequence, structure and phylogenetic analysis. 61
9666460 1998
40
Meiotic segregation and recombination of the intergenic spacer of the ribosomal DNA in the ectomycorrhizal basidiomycete Laccaria bicolor. 61
8781177 1996

Variations for Imerslund-Grasbeck Syndrome 2

ClinVar genetic disease variations for Imerslund-Grasbeck Syndrome 2:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 AMN NM_030943.4(AMN):c.1041_1042delinsCTC (p.Glu348fs)indel Pathogenic 873123 14:103396536-103396537 14:102930199-102930200
2 AMN NM_030943.3:c.10006+11_1008deldeletion Pathogenic 873124
3 AMN NM_030943.4(AMN):c.35del (p.Gln12fs)deletion Pathogenic 873125 14:103389060-103389060 14:102922723-102922723
4 AMN NM_030943.4(AMN):c.206T>A (p.Met69Lys)SNV Pathogenic 873126 14:103390315-103390315 14:102923978-102923978
5 AMN NM_030943.3(AMN):c.122C>T (p.Thr41Ile)SNV Pathogenic 4770 rs119478058 14:103390126-103390126 14:102923789-102923789
6 AMN NG_008276.2:g.10769A>GSNV Pathogenic 4771
7 AMN NM_030943.3(AMN):c.14del (p.Gly5fs)deletion Pathogenic/Likely pathogenic 56749 rs386834168 14:103389037-103389037 14:102922700-102922700

Expression for Imerslund-Grasbeck Syndrome 2

Search GEO for disease gene expression data for Imerslund-Grasbeck Syndrome 2.

Pathways for Imerslund-Grasbeck Syndrome 2

GO Terms for Imerslund-Grasbeck Syndrome 2

Sources for Imerslund-Grasbeck Syndrome 2

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