Imerslund-Grasbeck Syndrome 1 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

IGS1 MCID: IMR002 MIFTS: 43	Imerslund-Grasbeck Syndrome 1 (IGS1) Categories: Blood diseases, Gastrointestinal diseases, Genetic diseases, Metabolic diseases, Nephrological diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Expand all tables

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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:

MalaCards categories:
Global: Genetic diseases Metabolic diseases Rare diseases
Anatomical: Gastrointestinal diseases Nephrological diseases Blood diseases

See all MalaCards categories (disease lists)

ICD10: ³³

Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism

Nutritional anaemias

Vitamin B12 deficiency anaemia

Vitamin B12 deficiency anaemia due to selective vitamin B12 malabsorption with proteinuria

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

MedGen ⁴¹ C1306856 C4551825

SNOMED-CT via HPO ⁶⁸ 190634004 258211005 286933003 more

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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.

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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 30)

#	Related Disease	Score	Top Affiliating Genes
1	3-methylglutaconic aciduria, type i	31.6	CUBN AMN
2	megaloblastic anemia	31.2	CUBN AMN
3	vitamin b12 deficiency	29.9	CUBN AMN
4	imerslund-grasbeck syndrome 2	12.9
5	dowling-degos disease 1	10.5
6	enterocolitis	10.4
7	anemia, x-linked, with or without neutropenia and/or platelet abnormalities	10.4
8	ataxia and polyneuropathy, adult-onset	10.4
9	alpha-thalassemia	10.4
10	deficiency anemia	10.4
11	thalassemia	10.4
12	rickets	10.4
13	pancytopenia	10.4
14	macrocytic anemia	10.4
15	hemolytic anemia	10.4
16	diabetes mellitus	10.4
17	stomatitis	10.4
18	aphthous stomatitis	10.4
19	sutton disease 2	10.4
20	cerebral atrophy	10.4
21	spasticity	10.4
22	dermatitis, atopic	10.2
23	trichosporonosis	10.2
24	dermatitis	10.2
25	overgrowth syndrome	10.2
26	autosomal recessive disease	10.0
27	congenital intrinsic factor deficiency	9.6	CUBN AMN
28	vitamin metabolic disorder	9.6	CUBN AMN
29	donnai-barrow syndrome	9.5	CUBN AMN
30	3-methylglutaconic aciduria	9.4	CUBN AMN

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

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Symptoms & Phenotypes for Imerslund-Grasbeck Syndrome 1

Human phenotypes related to Imerslund-Grasbeck Syndrome 1:

³¹ (show all 8)

#	Description	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

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Drugs & Therapeutics for Imerslund-Grasbeck Syndrome 1

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

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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

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Anatomical Context for Imerslund-Grasbeck Syndrome 1

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

⁴⁰

Kidney, Skin, Testes, Neutrophil

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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	Ciancio JIR...Grunewald S	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	Kristiansen M...Moestrup SK	10887099	2000
3	Detailed investigations of proximal tubular function in Imerslund-Gräsbeck syndrome. ⁶ ⁵⁶	Storm T...Kozyraki R	24156255	2013
4	A patient with cubilin deficiency. ⁶ ⁵⁶	Storm T...Christensen EI	21208123	2011
5	Imerslund-Gräsbeck syndrome in a 15-year-old German girl caused by compound heterozygous mutations in CUBN. ⁶ ⁵⁶	Hauck FH...Laass MW	17668238	2008
6	Mutations in CUBN, encoding the intrinsic factor-vitamin B12 receptor, cubilin, cause hereditary megaloblastic anaemia 1. ⁶ ⁵⁶	Aminoff M...Krahe R	10080186	1999
7	Hereditary juvenile cobalamin deficiency caused by mutations in the intrinsic factor gene. ⁵⁶ ⁶¹	Tanner SM...de la Chapelle A	15738392	2005
8	A case report of 46,XX,del(21)(q22) de novo deletion associated with Imerslund-Grasbeck syndrome. ⁵⁶ ⁶¹	Celep F...Erduran E	9001810	1996
9	Imerslund-Grasbeck syndrome in a Chinese family with distinct skin lesions refractory to vitamin B12. ⁵⁶ ⁶¹	Lin SH...Hsueh EJ	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	Burman JF...Mollin DL	3972280	1985
11	Imerslund-Gräsbeck syndrome (selective vitamin B(12) malabsorption with proteinuria). ⁵⁶	Grasbeck R	16722557	2006
12	The functional cobalamin (vitamin B12)-intrinsic factor receptor is a novel complex of cubilin and amnionless. ⁵⁶	Fyfe JC...Moestrup SK	14576052	2004
13	Late onset of Imerslund-Gräsbeck syndrome without proteinuria in four children of one family from the Lebanon. ⁵⁶	Rossler J...Havers W	14593474	2003
14	Cubilin dysfunction causes abnormal metabolism of the steroid hormone 25(OH) vitamin D(3). ⁵⁶	Nykjaer A...Christensen EI	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	Kozyraki R...Moestrup SK	9572993	1998
16	Inborn error of vitamin B12 metabolism: a treatable cause of childhood dementia/paralysis. ⁵⁶	Al Essa M...Ozand PT	9620017	1998
17	Selective intestinal malabsorption of vitamin B12 displays recessive mendelian inheritance: assignment of a locus to chromosome 10 by linkage. ⁵⁶	Aminoff M...de la Chapelle A	7573042	1995
18	Congenital B12-malabsorption without proteinuria. ⁵⁶	Urban C...Kaulfersch W	7260408	1981
19	[Selective malabsorption of vitamin B 12 (Imerslund's disease) and its treatment. Apropos of 2 cases]. ⁵⁶	Odievre M...Pigot JY	1217951	1975
20	Inheritance of selective malabsorption of vitamin B12. ⁵⁶	Furuhjelm U...Nevanlinna HR	4756428	1973
21	Familial selective vitamin B 12 malabsorption. ⁵⁶	Grasbeck R	5041707	1972
22	Ileal mucosa in familial selective vitamin B 12 malabsorption. ⁵⁶	Mackenzie IL...Mathan VI	5016373	1972
23	Familial selective malabsorption of vitamin B 12. Re-evaluation of an in vivo intrinsic-factor inhibitor. ⁵⁶	Goldberg LS...Fudenberg HH	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	Mohamed SD...Galloway WH	5956445	1966
25	JUVENILE PERNICIOUS ANEMIA. ⁵⁶	SPURLING CL...JIJI RM	14198065	1964
26	FAMILIAL VITAMIN B12 MALABSORPTION. ⁵⁶	IMERSLUND O...BJORNSTAD P	14045900	1963
27	Familial juvenile pernicious anaemia: a study of the hereditary basis of pernicious anaemia. ⁵⁶	WATERS AH...MURPHY ME	13999146	1963
28	[Specific malabsorption of vitamin B12 proteinuria. Megaloblastic anemia of Imerslund-Najman-Grasbeck. Study of 4 cases]. ⁵⁶	LAMY M...AFIFI F	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	LAMBERT HP...SMELLIE JM	13758448	1961
30	Selective vitamin B12 malabsorption and proteinuria in young people. A syndrome. ⁵⁶	GRASBECK R...KUHLBACK B	13828999	1960
31	[Familiar selective vitamin B12 malabsorption with proteinuria. A pernicious anemia-like syndrome]. ⁵⁶	GRASBECK R	13828996	1960
32	Addisonian pernicious anaemia without gastric atrophy in a young man. ⁵⁶	MOLLIN DL...DONLACH I	13240016	1955
33	Imerslund-Grasbeck syndrome in a 5-year-old Iranian boy. ⁶¹	Goudarzipour K...Ahmadi MA	27942180	2016
34	VIT. B12 DEFICIENCY IN CHILDREN (IMERSLUND-GRÄSBECK SYNDROME IN TWO PAIRS OF SIBLINGS). ⁶¹	Krzemien G...Roszkowska-Blaim M	26958680	2015
35	Reversible skin hyperpigmentation in Imerslund-Grasbeck syndrome. ⁶¹	Shivbalan S...Srinath MV	24222293	2013
36	A long-term follow-up of an Imerslund-Grasbeck syndrome patient with proteinuria. ⁶¹	Ercan Z...Horoz M	23364648	2013
37	Luminal expression of cubilin is impaired in Imerslund-Grasbeck syndrome with compound AMN mutations in intron 3 and exon 7. ⁶¹	Namour F...Gueant JL	21750092	2011
38	Unusual cause of childhood anemia: Imerslund Grasbeck syndrome. ⁶¹	Laxminarayana KP...Rao C	22219566	2011
39	Marathon of eponyms: 9 Imerslund-Grasbeck syndrome (Juvenile pernicious anaemia). ⁶¹	Scully C...Evans J	20374509	2010
40	Imerslund-Grasbeck syndrome: association with diabetes mellitus. ⁶¹	Madhavan S...Nammalwar BR	19346573	2009
41	Imerslund-Grasbeck syndrome associated with recurrent aphthous stomatitis and defective neutrophil function. ⁶¹	Broides A...Levy J	17114957	2006
42	Nonradioactive vitamin B12 absorption test evaluated in controls and in patients with inherited malabsorption of vitamin B12. ⁶¹	Bor MV...Nexo E	16166166	2005
43	Linkage analysis of a large inbred family with congenital megaloblastic anemia. ⁶¹	Al-Alami JR...El-Shanti HI	12436132	2002
44	Genetic evidence of an accessory activity required specifically for cubilin brush-border expression and intrinsic factor-cobalamin absorption. ⁵⁴	Xu D...Fyfe JC	10552972	1999
45	Overexpression of an unstable intrinsic factor-cobalamin receptor in Imerslund-Gräsbeck syndrome. ⁵⁴	Eaton DM...Puntis JW	9649473	1998
46	Reversal of severe neurological abnormalities after vitamin B12 replacement in the Imerslund-Grasbeck syndrome. ⁶¹	Salameh MM...Mohdi AA	1940989	1991
47	Imerslund-Grasbeck syndrome in a Libyan boy. ⁶¹	el Mauhoub M...Banerjee G	2475066	1989
48	Megaloblastic anemia characterized by microcytosis: Imerslund-Grasbeck syndrome with coexistent alpha-thalassemia. ⁶¹	Russo CL...Oseas RS	3368285	1988
49	[Familial selective vitamin B12 malabsorption (Imerslund-Grasbeck syndrome)--a case report]. ⁶¹	Shi HP...He BZ	6226387	1983
50	Failure to thrive associated with the Imerslund-Grasbeck syndrome. ⁶¹	Campbell AN...Paynter AS	7301700	1981

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Genes for Imerslund-Grasbeck Syndrome 1

Genes related to Imerslund-Grasbeck Syndrome 1 (2 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	CUBN	Cubilin	Protein Coding	1661.52	Molecular basis known ⁵⁶ Pathogenic ⁶ Causative germline mutation ⁵⁸ Causative variation ⁷³ Genetic Tests ²⁹ Novoseek inferred ⁵⁴	17668238 10080186 31497480 (more) 24156255 10887099 21208123 9649473 10552972 10887099
2	AMN	Amnion Associated Transmembrane Protein	Protein Coding	1050	Pathogenic/Likely pathogenic ⁶ Pathogenic ⁶ Causative germline mutation ⁵⁸ Causative variation ⁷³

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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_?)del	deletion	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>T	SNV	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+30del	deletion	Likely pathogenic	56741	rs386834160	14:103396433-103396447	14:102930096-102930110
33	AMN	NM_030943.3(AMN):c.1006+34_1007-31del	deletion	Likely pathogenic	56742	rs386834161	14:103396445-103396459	14:102930108-102930122
34	AMN	NM_030943.3(AMN):c.1006+36_1007-29del	deletion	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>C	SNV	Likely pathogenic	56750	rs386834169	14:103394762-103394762	14:102928425-102928425
37	AMN	NM_030943.3(AMN):c.208-2A>G	SNV	Likely pathogenic	56751	rs386834170	14:103394761-103394761	14:102928424-102928424
38	AMN	NM_030943.3(AMN):c.295+1del	deletion	Likely pathogenic	56752	rs386834171	14:103394849-103394849	14:102928512-102928512
39	AMN	NM_030943.3(AMN):c.43+1G>T	SNV	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>A	SNV	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>G	SNV	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

Sources

Expression for Imerslund-Grasbeck Syndrome 1

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

Sources

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	Metabolism of water-soluble vitamins and cofactors ⁶⁵ Show member pathways [2Fe-2S] iron-sulfur cluster biosynthesis ¹ Biotin transport and metabolism ⁶⁵ biotin-carboxyl carrier protein assembly ¹ coenzyme A biosynthesis ¹ Coenzyme A biosynthesis ⁶⁵ flavin biosynthesis ¹ folate polyglutamylation ¹ glycine/serine biosynthesis ¹ Metabolism of folate and pterines ⁶⁵ Metabolism of vitamins and cofactors ⁶⁵ molybdenum cofactor biosynthesis ¹ Molybdenum cofactor biosynthesis ⁶⁵ thiamin salvage III ¹ thio-molybdenum cofactor biosynthesis ¹ Vitamin B1 (thiamin) metabolism ⁶⁵ Vitamin B2 (riboflavin) metabolism ⁶⁵ Vitamin B5 (pantothenate) metabolism ⁶⁵ Vitamin C (ascorbate) metabolism ⁶⁵ Vitamins B6 activation to pyridoxal phosphate ⁶⁵	11.93	CUBN AMN
2	Lipoprotein metabolism ⁶⁵ Show member pathways Chylomicron-mediated lipid transport ⁶⁵ Digestion of dietary lipid ⁶⁵ HDL-mediated lipid transport ⁶⁵ Hormone-sensitive lipase (HSL)-mediated triacylglycerol hydrolysis ⁶⁵ LDL-mediated lipid transport ⁶⁵ Lipid digestion, mobilization, and transport ⁶⁵ Reelin signalling pathway ⁶⁵ VLDL biosynthesis ⁶⁵ VLDL interactions ⁶⁵ VLDLR internalisation and degradation ⁶⁵	11.79	CUBN AMN
3	Diseases of metabolism ⁶⁵ Show member pathways Defective ACTH causes Obesity and Pro-opiomelanocortinin deficiency (POMCD) ⁶⁵ Defective CD320 causes methylmalonic aciduria ⁶⁵ Defective CYP11A1 causes Adrenal insufficiency, congenital, with 46,XY sex reversal (AICSR) ⁶⁵ Defective MMACHC causes methylmalonic aciduria and homocystinuria type cblC ⁶⁵ Defective MMADHC causes methylmalonic aciduria and homocystinuria type cblD ⁶⁵ Defective TCN2 causes hereditary megaloblastic anemia ⁶⁵ Defects in cobalamin (B12) metabolism ⁶⁵ Defects in vitamin and cofactor metabolism ⁶⁵ Electron transport from NADPH to Ferredoxin ⁶⁵ Metabolic disorders of biological oxidation enzymes ⁶⁵	11.12	CUBN AMN
4	Cobalamin (Cbl, vitamin B12) transport and metabolism ⁶⁵	10.28	CUBN AMN
5	Defective CUBN causes hereditary megaloblastic anemia 1 ⁶⁵ Show member pathways Defective AMN causes hereditary megaloblastic anemia 1 ⁶⁵ Defective GIF causes intrinsic factor deficiency ⁶⁵	9.47	CUBN AMN

Sources

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

Sources for Imerslund-Grasbeck Syndrome 1

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

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¹⁴ DiseaseEnhancer

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¹⁸ ExPASy

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

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³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NIH Rare Diseases

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM

⁵⁷ OMIM via Orphanet

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

Imerslund-Grasbeck Syndrome 1 (IGS1)

Aliases & Classifications for Imerslund-Grasbeck Syndrome 1

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Expression for Imerslund-Grasbeck Syndrome 1

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GO Terms for Imerslund-Grasbeck Syndrome 1

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Sources for Imerslund-Grasbeck Syndrome 1