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

IGS1 MCID: IMR002 MIFTS: 42	Imerslund-Grasbeck Syndrome 1 (IGS1) Categories: Gastrointestinal diseases, Genetic diseases, Nephrological diseases, Neuronal 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 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:

MalaCards categories:
Global: Genetic diseases
Anatomical: Gastrointestinal diseases Neuronal diseases Nephrological diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM® ⁵⁷ 261100

OMIM Phenotypic Series ⁵⁷ PS261100

MeSH ⁴⁴ D000749

MedGen ⁴¹ C1306856 C4551825

SNOMED-CT via HPO ⁶⁸ 190634004 258211005 286933003 more

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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.

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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 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:

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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®:

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)

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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

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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	Ciancio JIR...Grunewald S	31497480	2019
2	Detailed investigations of proximal tubular function in Imerslund-Gräsbeck syndrome. ⁶ ⁵⁷	Storm T...Kozyraki R	24156255	2013
3	A patient with cubilin deficiency. ⁵⁷ ⁶	Storm T...Christensen EI	21208123	2011
4	Imerslund-Gräsbeck syndrome in a 15-year-old German girl caused by compound heterozygous mutations in CUBN. ⁶ ⁵⁷	Hauck FH...Laass MW	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	Kristiansen M...Moestrup SK	10887099	2000
6	Mutations in CUBN, encoding the intrinsic factor-vitamin B12 receptor, cubilin, cause hereditary megaloblastic anaemia 1. ⁵⁷ ⁶	Aminoff M...Krahe R	10080186	1999
7	Imerslund-Gräsbeck syndrome (selective vitamin B(12) malabsorption with proteinuria). ⁵⁷	Grasbeck R	16722557	2006
8	Hereditary juvenile cobalamin deficiency caused by mutations in the intrinsic factor gene. ⁵⁷	Tanner SM...de la Chapelle A	15738392	2005
9	The functional cobalamin (vitamin B12)-intrinsic factor receptor is a novel complex of cubilin and amnionless. ⁵⁷	Fyfe JC...Moestrup SK	14576052	2004
10	Late onset of Imerslund-Gräsbeck syndrome without proteinuria in four children of one family from the Lebanon. ⁵⁷	Rossler J...Havers W	14593474	2003
11	Cubilin dysfunction causes abnormal metabolism of the steroid hormone 25(OH) vitamin D(3). ⁵⁷	Nykjaer A...Christensen EI	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	Kozyraki R...Moestrup SK	9572993	1998
13	Inborn error of vitamin B12 metabolism: a treatable cause of childhood dementia/paralysis. ⁵⁷	Al Essa M...Ozand PT	9620017	1998
14	A case report of 46,XX,del(21)(q22) de novo deletion associated with Imerslund-Grasbeck syndrome. ⁵⁷	Celep F...Erduran E	9001810	1996
15	Selective intestinal malabsorption of vitamin B12 displays recessive mendelian inheritance: assignment of a locus to chromosome 10 by linkage. ⁵⁷	Aminoff M...de la Chapelle A	7573042	1995
16	Imerslund-Grasbeck syndrome in a Chinese family with distinct skin lesions refractory to vitamin B12. ⁵⁷	Lin SH...Hsueh EJ	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	Burman JF...Mollin DL	3972280	1985
18	Congenital B12-malabsorption without proteinuria. ⁵⁷	Urban C...Kaulfersch W	7260408	1981
19	[Selective malabsorption of vitamin B 12 (Imerslund's disease) and its treatment. Apropos of 2 cases]. ⁵⁷	Odievre M...Pigot JY	1217951	1975
20	Inheritance of selective malabsorption of vitamin B12. ⁵⁷	Furuhjelm U...Nevanlinna HR	4756428	1973
21	Familial selective vitamin B 12 malabsorption. ⁵⁷	Grasbeck R	5041707	1972
22	Ileal mucosa in familial selective vitamin B 12 malabsorption. ⁵⁷	Mackenzie IL...Mathan VI	5016373	1972
23	Familial selective malabsorption of vitamin B 12. Re-evaluation of an in vivo intrinsic-factor inhibitor. ⁵⁷	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. ⁵⁷	Mohamed SD...Galloway WH	5956445	1966
25	JUVENILE PERNICIOUS ANEMIA. ⁵⁷	SPURLING CL...JIJI RM	14198065	1964
26	Familial juvenile pernicious anaemia: a study of the hereditary basis of pernicious anaemia. ⁵⁷	WATERS AH...MURPHY ME	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	LAMBERT HP...SMELLIE JM	13758448	1961
28	Selective vitamin B12 malabsorption and proteinuria in young people. A syndrome. ⁵⁷	GRASBECK R...KUHLBACK B	13828999	1960
29	[Familiar selective vitamin B12 malabsorption with proteinuria. A pernicious anemia-like syndrome]. ⁵⁷	GRASBECK R	13828996	1960
30	Addisonian pernicious anaemia without gastric atrophy in a young man. ⁵⁷	MOLLIN DL...DONLACH I	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	Francisco EC...Colombo AL	33318016	2021
32	Multiple Niche Compartments Orchestrate Stepwise Germline Stem Cell Progeny Differentiation. ⁶¹	Tu R...Xie T	33357404	2020
33	The epidemiology, genotypes, antifungal susceptibility of Trichosporon species, and the impact of voriconazole on Trichosporon fungemia patients. ⁶¹	Kuo SH...Lin SY	33358563	2020
34	High genetic variability of clinical and environmental Cryptococcus gattii isolates from Brazil. ⁶¹	Vilas-Boas AM...Silva-Vergara ML	32343345	2020
35	Epidemiological investigation for grouped cases of Trichosporon asahii using whole genome and IGS1 sequencing. ⁶¹	Desnos-Ollivier M...French Mycoses Study Group	32506754	2020
36	Molecular Identification, Genotyping, Phenotyping, and Antifungal Susceptibilities of Medically Important Trichosporon, Apiotrichum, and Cutaneotrichosporon Species. ⁶¹	do Espirito Santo EPT...Marques-da-Silva SH	31776790	2020
37	Candida kefyr in Kuwait: Prevalence, antifungal drug susceptibility and genotypic heterogeneity. ⁶¹	Ahmad S...Asadzadeh M	33108361	2020
38	Species distribution and antifungal susceptibility of 358 Trichosporon clinical isolates collected in 24 medical centres. ⁶¹	Francisco EC...Colombo AL	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	Peng L...Jiang YT	30898449	2019
40	Complicated urinary tract infection by Trichosporon loubieri. ⁶¹	Premamalini T...Kindo AJ	31080715	2019
41	Identification, genotyping, and pathogenicity of Trichosporon spp. Isolated from Giant pandas (Ailuropoda melanoleuca). ⁶¹	Ma X...Zhou Z	31138125	2019
42	Invasive Infections Due to Trichosporon: Species Distribution, Genotyping, and Antifungal Susceptibilities from a Multicenter Study in China. ⁶¹	Guo LN...Xu YC	30463892	2019
43	Rapid and Simple Detection of Trichosporon asahii by Optimized Colony PCR. ⁶¹	Zhang D...Yang R	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	Yang RH...Bao DP	32464014	2019
45	Sequence-based identification, genotyping and virulence factors of Trichosporon asahii strains isolated from urine samples of hospitalized patients (2011-2016). ⁶¹	Hazirolan G...Karagoz A	29983233	2018
46	Morphological and molecular evidence for two new species in Lepiota from China. ⁶¹	Liang JF...Song J	29932817	2018
47	Molecular epidemiology of a Malassezia pachydermatis neonatal unit outbreak. ⁶¹	Ilahi A...Ranque S	28371911	2018
48	Mitochondrial genomes of blister beetles (Coleoptera, Meloidae) and two large intergenic spacers in Hycleus genera. ⁶¹	Du C...Zhang X	28874137	2017
49	Molecular and antifungal susceptibility study on trichosporonemia and emergence of Trichosporon mycotoxinivorans as a bloodstream pathogen. ⁶¹	Dabas Y...Kale P	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	Tanahashi M...Kubota K	29140770	2017

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Genes for Imerslund-Grasbeck Syndrome 1

Genes related to Imerslund-Grasbeck Syndrome 1 (3 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	CUBN	Cubilin	Protein Coding	1342.07	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷³ Genetic Tests ²⁹ Likely pathogenic ⁶ GeneCards inferred via : Disorders Variants (show sections)	10080186
2	AMN	Amnion Associated Transmembrane Protein	Protein Coding	425	Pathogenic ⁶ Likely pathogenic ⁶
3	TRAF3	TNF Receptor Associated Factor 3	Protein Coding	400	Pathogenic ⁶

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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 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

Sources

Expression for Imerslund-Grasbeck Syndrome 1

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

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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	HIV Life Cycle ⁶⁵ Show member pathways 2-LTR circle formation ⁶⁵ APOBEC3G mediated resistance to HIV-1 infection ⁶⁵ Assembly Of The HIV Virion ⁶⁵ Binding and entry of HIV virion ⁶⁵ Disease ⁶⁵ Diseases of signal transduction ⁶⁵ Early Phase of HIV Life Cycle ⁶⁵ HIV Infection ⁶⁵ Host Interactions of HIV factors ⁶⁵ Infectious disease ⁶⁵ Integration of provirus ⁶⁵ Late Phase of HIV Life Cycle ⁶⁵	12.87	TRAF3 CUBN AMN
2	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	11.97	CUBN AMN
3	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
4	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
5	Cobalamin (Cbl, vitamin B12) transport and metabolism ⁶⁵	10.28	CUBN AMN
6	Defective AMN causes hereditary megaloblastic anemia 1 ⁶⁵ Show member pathways Defective CUBN 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	9.43	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

Sources for Imerslund-Grasbeck Syndrome 1

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

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²⁷ GEO DataSets

²⁸ GO

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³¹ HPO

³² ICD10

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³⁸ LncRNADisease

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⁴¹ MedGen

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⁴⁸ NCBI Bookshelf

⁴⁹ NCI

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⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 05-Mar-2021)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

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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)

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