RH-MGA1
MCID: MGL018
MIFTS: 48

Megaloblastic Anemia 1 (RH-MGA1)

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

Aliases & Classifications for Megaloblastic Anemia 1

MalaCards integrated aliases for Megaloblastic Anemia 1:

Name: Megaloblastic Anemia 1 56 52 25
Imerslund-Grasbeck Syndrome 56 52 25 58 73 54
Enterocyte Cobalamin Malabsorption 56 52 25
Pernicious Anemia, Juvenile, Due to Selective Intestinal Malabsorption of Vitamin B12, with Proteinuria 56 52
Selective Cobalamin Malabsorption with Proteinuria 52 58
Defect of Enterocyte Intrinsic Factor Receptor 52 25
Megaloblastic Anemia-1, Finnish Type 56 13
Familial Megaloblastic Anemia 52 58
Igs 56 52
Juvenile Pernicious Anemia with Proteinuria Due to Selective Intestinal Malabsorption of Vitamin B12 25
Megaloblastic Anemia Due to Inborn Errors of Metabolism 71
Enterocyte Intrinsic Factor Receptor, Defect of 56
Recessive Hereditary Megaloblastic Anemia 1 73
Megaloblastic Anemia-1, Norwegian Type 56
Megaloblastic Anemia 1, Norwegian Type 6
Megaloblastic Anemia 1, Finnish Type 6
3-@methylglutaconic Aciduria, Type I 71
Imerslund-Grasbeck Syndrome; Igs 56
Anemia, Megaloblastic, Type 1 39
Imerslund-Gräsbeck Syndrome 25
Gräsbeck-Imerslund Disease 52
Mga1 Norwegian Type 73
Rh-Mga1 73
Mga1 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)


HPO:

31
megaloblastic anemia 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
ICD10 via Orphanet 33 D51.1
UMLS via Orphanet 72 C1306856
Orphanet 58 ORPHA35858
UMLS 71 C0342727 C1306856

Summaries for Megaloblastic Anemia 1

Genetics Home Reference : 25 Imerslund-Gräsbeck syndrome is a condition caused by low levels of vitamin B12 (also known as cobalamin). The primary feature of this condition is a blood disorder called megaloblastic anemia. In this form of anemia, which is a disorder characterized by the shortage of red blood cells, the red cells that are present are abnormally large. About half of people with Imerslund-Gräsbeck syndrome also have high levels of protein in their urine (proteinuria). Although proteinuria can be an indication of kidney problems, people with Imerslund-Gräsbeck syndrome appear to have normal kidney function. Imerslund-Gräsbeck syndrome typically begins in infancy or early childhood. The blood abnormality leads to many of the signs and symptoms of the condition, including an inability to grow and gain weight at the expected rate (failure to thrive), pale skin (pallor), excessive tiredness (fatigue), and recurring gastrointestinal or respiratory infections. Other features of Imerslund-Gräsbeck syndrome include mild neurological problems, such as weak muscle tone (hypotonia), numbness or tingling in the hands or feet, movement problems, delayed development, or confusion. Rarely, affected individuals have abnormalities of organs or tissues that make up the urinary tract, such as the bladder or the tubes that carry fluid from the kidneys to the bladder (the ureters).

MalaCards based summary : Megaloblastic Anemia 1, also known as imerslund-grasbeck syndrome, is related to 3-methylglutaconic aciduria, type i and megaloblastic anemia, and has symptoms including athetosis and cerebellar ataxia. An important gene associated with Megaloblastic Anemia 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, skin and t cells, and related phenotypes are proteinuria and paresthesia

NIH Rare Diseases : 52 Imerslund-Grasbeck syndrome (IGS) is a rare condition characterized by vitamin B12 deficiency , often causing megaloblastic anemia . IGS usually appears in childhood. Other features may include failure to thrive , infections, and neurological damage. Mild proteinuria (with no signs of kidney disease ) is present in about half of affected individuals. IGS is caused by mutations in either the CUBN or AMN gene and is inherited in an autosomal recessive manner. Treatment includes life-long vitamin B12 injections, with which affected individuals can stay healthy for decades.

OMIM : 56 Imerslund-Grasbeck syndrome is a form of congenital megaloblastic anemia due to vitamin B12 deficiency caused by a defect in the vitamin B12/intrinsic factor receptor. See also congenital pernicious anemia due to a defect in intrinsic factor (261000). Adult pernicious anemia (170900) is a distinct autoimmune disorder associated with plasma autoantibodies to gastric parietal cells or gastric intrinsic factor. In these cases, there is gastric atrophy and a relatively high frequency of associated thyroiditis and myxedema. (261100)

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 Megaloblastic Anemia 1

Diseases in the Megaloblastic Anemia family:

Megaloblastic Anemia 1

Diseases related to Megaloblastic Anemia 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 1198)
# Related Disease Score Top Affiliating Genes
1 3-methylglutaconic aciduria, type i 31.7 CUBN CBLIF AMN
2 megaloblastic anemia 31.3 CUBN CBLIF AMN
3 methylmalonic acidemia 29.4 CBLIF AMN
4 vitamin b12 deficiency 29.2 CUBN CBLIF AMN
5 hyper-ige recurrent infection syndrome 1, autosomal dominant 12.9
6 hyper ige syndrome 12.8
7 hyper-ige recurrent infection syndrome 2, autosomal recessive 12.7
8 congenital disorder of glycosylation, type ig 12.6
9 hyper-ige recurrent infection syndrome 3, autosomal recessive 12.6
10 hyper-ige recurrent infection syndrome 4, autosomal recessive 12.6
11 erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige 12.5
12 ige responsiveness, atopic 12.5
13 hyper ige recurrent infection syndrome 1 12.4
14 amelogenesis imperfecta, type ig 12.4
15 selective ige deficiency disease 12.4
16 hyper ige recurrent infection syndrome 2 12.3
17 hyper ige recurrent infection syndrome 3 12.3
18 hyper ige recurrent infection syndrome 4 12.3
19 obsolete: autosomal recessive hyper-ige syndrome 12.3
20 usher syndrome, type ig 12.2
21 immunodeficiency 35 12.1
22 amelogenesis imperfecta hypoplastic type, ig 12.1
23 acquired monoclonal ig light chain-associated fanconi syndrome 12.1
24 epilepsy, idiopathic generalized 12.1
25 netherton syndrome 12.1
26 immunodeficiency 23 12.0
27 dock8 immunodeficiency syndrome 12.0
28 immunodeficiency 11b with atopic dermatitis 11.8
29 common variable immunodeficiency 11.8
30 asthma 11.8
31 agammaglobulinemia 11.7
32 iminoglycinuria 11.7
33 immunodeficiency with hyper-igm, type 1 11.7
34 pgm3-congenital disorder of glycosylation 11.7
35 immunoglobulin e concentration, serum 11.6
36 allergic asthma 11.6
37 allergic rhinitis 11.6
38 immunodeficiency with hyper-igm, type 2 11.6
39 c3 glomerulopathy 11.6
40 agammaglobulinemia, x-linked 11.5
41 asthma-related traits 1 11.5
42 asthma-related traits 2 11.5
43 omenn syndrome 11.5
44 immunodeficiency with hyper-igm, type 4 11.5
45 asthma-related traits 4 11.4
46 nephrotic syndrome, type 7 11.4
47 dermatitis herpetiformis 11.4
48 chronic mucocutaneous candidiasis 11.4
49 anemia, autoimmune hemolytic 11.4
50 immunoglobulin a deficiency 1 11.3

Graphical network of the top 20 diseases related to Megaloblastic Anemia 1:



Diseases related to Megaloblastic Anemia 1

Symptoms & Phenotypes for Megaloblastic Anemia 1

Human phenotypes related to Megaloblastic Anemia 1:

31 (show all 8)
# Description HPO Frequency HPO Source Accession
1 proteinuria 31 HP:0000093
2 paresthesia 31 HP:0003401
3 dementia 31 HP:0000726
4 confusion 31 HP:0001289
5 sensory impairment 31 HP:0003474
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 levels of serum vitamin b12
normal serum folate levels

Neurologic Central Nervous System:
dementia
confusion

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

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

Clinical features from OMIM:

261100

UMLS symptoms related to Megaloblastic Anemia 1:


athetosis, cerebellar ataxia

Drugs & Therapeutics for Megaloblastic Anemia 1

Search Clinical Trials , NIH Clinical Center for Megaloblastic Anemia 1

Genetic Tests for Megaloblastic Anemia 1

Anatomical Context for Megaloblastic Anemia 1

MalaCards organs/tissues related to Megaloblastic Anemia 1:

40
Kidney, Skin, T Cells, Lung, Thyroid, B Cells, Bone

Publications for Megaloblastic Anemia 1

Articles related to Megaloblastic Anemia 1:

(show top 50) (show all 53)
# Title Authors PMID Year
1
Amnionless, essential for mouse gastrulation, is mutated in recessive hereditary megaloblastic anemia. 61 56 6
12590260 2003
2
Genetic heterogeneity of megaloblastic anaemia type 1 in Tunisian patients. 56 6
17285242 2007
3
Mutations in CUBN, encoding the intrinsic factor-vitamin B12 receptor, cubilin, cause hereditary megaloblastic anaemia 1. 56 6
10080186 1999
4
Cubilin P1297L mutation associated with hereditary megaloblastic anemia 1 causes impaired recognition of intrinsic factor-vitamin B(12) by cubilin. 54 61 6
10887099 2000
5
Hereditary juvenile cobalamin deficiency caused by mutations in the intrinsic factor gene. 61 56
15738392 2005
6
The functional cobalamin (vitamin B12)-intrinsic factor receptor is a novel complex of cubilin and amnionless. 61 56
14576052 2004
7
Canine Imerslund-Gräsbeck syndrome maps to a region orthologous to HSA14q. 61 56
14722725 2003
8
A case report of 46,XX,del(21)(q22) de novo deletion associated with Imerslund-Grasbeck syndrome. 61 56
9001810 1996
9
Imerslund-Grasbeck syndrome in a Chinese family with distinct skin lesions refractory to vitamin B12. 61 56
7962612 1994
10
Absent ileal uptake of IF-bound vitamin B12 in vivo in the Imerslund-Grasbeck syndrome (familial vitamin B12 malabsorption with proteinuria). 61 56
3972280 1985
11
A patient with cubilin deficiency. 6
21208123 2011
12
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
13
Late onset of Imerslund-Gräsbeck syndrome without proteinuria in four children of one family from the Lebanon. 56
14593474 2003
14
Inborn error of vitamin B12 metabolism: a treatable cause of childhood dementia/paralysis. 56
9620017 1998
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
Selective intestinal malabsorption of vitamin B12 displays recessive mendelian inheritance: assignment of a locus to chromosome 10 by linkage. 56
7573042 1995
17
Imerslund-Gräsbeck anemia. A long-term follow-up study. 56
6741523 1984
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
Profound vitamin D deficiency in four siblings with Imerslund-Grasbeck syndrome with homozygous CUBN mutation. 61
31497480 2019
34
Imerslund-Grasbeck syndrome in a 5-year-old Iranian boy. 61
27942180 2016
35
VIT. B12 DEFICIENCY IN CHILDREN (IMERSLUND-GRÄSBECK SYNDROME IN TWO PAIRS OF SIBLINGS). 61
26958680 2015
36
Reversible skin hyperpigmentation in Imerslund-Grasbeck syndrome. 61
24222293 2013
37
A long-term follow-up of an Imerslund-Grasbeck syndrome patient with proteinuria. 61
23364648 2013
38
Luminal expression of cubilin is impaired in Imerslund-Grasbeck syndrome with compound AMN mutations in intron 3 and exon 7. 61
21750092 2011
39
Unusual cause of childhood anemia: Imerslund Grasbeck syndrome. 61
22219566 2011
40
Marathon of eponyms: 9 Imerslund-Grasbeck syndrome (Juvenile pernicious anaemia). 61
20374509 2010
41
Imerslund-Grasbeck syndrome: association with diabetes mellitus. 61
19346573 2009
42
Imerslund-Grasbeck syndrome associated with recurrent aphthous stomatitis and defective neutrophil function. 61
17114957 2006
43
Nonradioactive vitamin B12 absorption test evaluated in controls and in patients with inherited malabsorption of vitamin B12. 61
16166166 2005
44
Proteinuria in cubilin-deficient patients with selective vitamin B12 malabsorption. 61
12687456 2003
45
Linkage analysis of a large inbred family with congenital megaloblastic anemia. 61
12436132 2002
46
Genetic evidence of an accessory activity required specifically for cubilin brush-border expression and intrinsic factor-cobalamin absorption. 54
10552972 1999
47
Overexpression of an unstable intrinsic factor-cobalamin receptor in Imerslund-Gräsbeck syndrome. 54
9649473 1998
48
Reversal of severe neurological abnormalities after vitamin B12 replacement in the Imerslund-Grasbeck syndrome. 61
1940989 1991
49
Imerslund-Grasbeck syndrome in a Libyan boy. 61
2475066 1989
50
Megaloblastic anemia characterized by microcytosis: Imerslund-Grasbeck syndrome with coexistent alpha-thalassemia. 61
3368285 1988

Variations for Megaloblastic Anemia 1

ClinVar genetic disease variations for Megaloblastic Anemia 1:

6 (show top 50) (show all 147) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CUBN NM_001081.3(CUBN):c.1865del (p.Thr622fs)deletion Pathogenic 56323 rs386833771 10:17130245-17130245 10:17088246-17088246
2 CUBN NM_001081.3(CUBN):c.6928_6934del (p.Glu2310fs)deletion Pathogenic 189227 rs757649673 10:16960687-16960693 10:16918688-16918694
3 AMN NM_030943.3(AMN):c.122C>T (p.Thr41Ile)SNV Pathogenic 4770 rs119478058 14:103390126-103390126 14:102923789-102923789
4 AMN AMN, IVS3, A-G, -2SNV Pathogenic 4771
5 CUBN CUBN, IVS6, C-GSNV Pathogenic 6690
6 CUBN NM_001081.3(CUBN):c.3329+1G>TSNV Pathogenic 30291 rs1205598688 10:17089412-17089412 10:17047413-17047413
7 CUBN NM_001081.3(CUBN):c.5511dup (p.Gly1838fs)duplication Pathogenic 522509 rs1168074679 10:16982067-16982068 10:16940068-16940069
8 CUBN NM_001081.3(CUBN):c.7955C>A (p.Ser2652Ter)SNV Pathogenic 522697 rs1554790861 10:16946072-16946072 10:16904073-16904073
9 AMN NC_000014.8:g.(?_103336519)_(103397037_?)deldeletion Pathogenic 532214 14:103336519-103397037 14:102870182-102930700
10 CUBN NM_001081.3(CUBN):c.5428C>T (p.Arg1810Ter)SNV Pathogenic 581662 rs143944436 10:16982151-16982151 10:16940152-16940152
11 CUBN NM_001081.3(CUBN):c.5530C>T (p.Gln1844Ter)SNV Pathogenic 579557 rs1564435943 10:16982049-16982049 10:16940050-16940050
12 CUBN NM_001081.3(CUBN):c.4459C>T (p.Arg1487Ter)SNV Pathogenic 575738 rs145661597 10:17026170-17026170 10:16984171-16984171
13 CUBN NM_001081.3(CUBN):c.7906C>T (p.Arg2636Ter)SNV Pathogenic 569408 rs137998687 10:16948208-16948208 10:16906209-16906209
14 CUBN NM_001081.3(CUBN):c.5600del (p.Phe1867fs)deletion Pathogenic 599082 rs747417629 10:16981095-16981095 10:16939096-16939096
15 CUBN NM_001081.3(CUBN):c.3890C>T (p.Pro1297Leu)SNV Pathogenic/Likely pathogenic 6689 rs121434430 10:17083159-17083159 10:17041160-17041160
16 AMN NM_030943.3(AMN):c.14del (p.Gly5fs)deletion Pathogenic/Likely pathogenic 56749 rs386834168 14:103389037-103389037 14:102922700-102922700
17 AMN NM_030943.3(AMN):c.208-1G>CSNV Likely pathogenic 56750 rs386834169 14:103394762-103394762 14:102928425-102928425
18 AMN NM_030943.3(AMN):c.208-2A>GSNV Likely pathogenic 56751 rs386834170 14:103394761-103394761 14:102928424-102928424
19 AMN NM_030943.3(AMN):c.295+1deldeletion Likely pathogenic 56752 rs386834171 14:103394849-103394849 14:102928512-102928512
20 AMN NM_030943.3(AMN):c.43+1G>TSNV Likely pathogenic 56753 rs386834172 14:103389069-103389069 14:102922732-102922732
21 AMN NM_030943.3(AMN):c.468dup (p.Gly157fs)duplication Likely pathogenic 56754 rs386834173 14:103395266-103395267 14:102928929-102928930
22 AMN NM_030943.3(AMN):c.514-34G>ASNV Likely pathogenic 56755 rs144077391 14:103395424-103395424 14:102929087-102929087
23 AMN NM_030943.3(AMN):c.663G>A (p.Trp221Ter)SNV Likely pathogenic 56756 rs386834174 14:103395776-103395776 14:102929439-102929439
24 AMN NM_030943.3(AMN):c.683_730del (p.Gln228_Leu243del)deletion Likely pathogenic 56757 rs386834175 14:103395792-103395839 14:102929455-102929502
25 AMN NM_030943.3(AMN):c.701G>T (p.Cys234Phe)SNV Likely pathogenic 56758 rs386834176 14:103395814-103395814 14:102929477-102929477
26 AMN NM_030943.3(AMN):c.742C>T (p.Gln248Ter)SNV Likely pathogenic 56759 rs386834177 14:103395855-103395855 14:102929518-102929518
27 AMN NM_030943.3(AMN):c.761G>A (p.Gly254Glu)SNV Likely pathogenic 56760 rs386834178 14:103395992-103395992 14:102929655-102929655
28 AMN NM_030943.3(AMN):c.974_977dup (p.Ala327fs)duplication Likely pathogenic 56761 rs386834179 14:103396389-103396390 14:102930052-102930053
29 CUBN NM_001081.3(CUBN):c.3330-439C>GSNV Likely pathogenic 56802 rs386833782 10:17088532-17088532 10:17046533-17046533
30 CUBN NM_001081.3(CUBN):c.1230+1G>ASNV Likely pathogenic 56318 rs386833766 10:17147455-17147455 10:17105456-17105456
31 CUBN NM_001081.3(CUBN):c.1436C>G (p.Ser479Ter)SNV Likely pathogenic 56319 rs386833767 10:17145218-17145218 10:17103219-17103219
32 CUBN NM_001081.3(CUBN):c.1526del (p.Gly509fs)deletion Likely pathogenic 56320 rs386833768 10:17145128-17145128 10:17103129-17103129
33 CUBN NM_001081.3(CUBN):c.1530G>A (p.Lys510=)SNV Likely pathogenic 56321 rs386833769 10:17145124-17145124 10:17103125-17103125
34 CUBN NM_001081.3(CUBN):c.1838del (p.Gly613fs)deletion Likely pathogenic 56322 rs386833770 10:17130272-17130272 10:17088273-17088273
35 CUBN NM_001081.3(CUBN):c.1951C>T (p.Arg651Ter)SNV Likely pathogenic 56324 rs182512508 10:17127755-17127755 10:17085756-17085756
36 CUBN NM_001081.3(CUBN):c.2068A>G (p.Ile690Val)SNV Likely pathogenic 56325 rs386833772 10:17127638-17127638 10:17085639-17085639
37 CUBN NM_001081.3(CUBN):c.2486C>T (p.Ser829Leu)SNV Likely pathogenic 56326 rs386833773 10:17113564-17113564 10:17071565-17071565
38 CUBN NM_001081.3(CUBN):c.250C>T (p.Gln84Ter)SNV Likely pathogenic 56327 rs386833774 10:17171122-17171122 10:17129123-17129123
39 CUBN NM_001081.3(CUBN):c.2515_2533del (p.Glu839fs)deletion Likely pathogenic 56328 rs386833775 10:17113517-17113535 10:17071518-17071536
40 CUBN NM_001081.3(CUBN):c.252+1G>ASNV Likely pathogenic 56329 rs386833776 10:17171119-17171119 10:17129120-17129120
41 CUBN NM_001081.3(CUBN):c.2614_2615del (p.Asp872fs)deletion Likely pathogenic 56330 rs386833777 10:17113435-17113436 10:17071436-17071437
42 CUBN NM_001081.3(CUBN):c.2673C>A (p.Cys891Ter)SNV Likely pathogenic 56331 rs386833778 10:17110722-17110722 10:17068723-17068723
43 CUBN NM_001081.3(CUBN):c.2949C>A (p.Tyr983Ter)SNV Likely pathogenic 56332 rs386833779 10:17110122-17110122 10:17068123-17068123
44 CUBN NM_001081.3(CUBN):c.3056C>G (p.Ser1019Ter)SNV Likely pathogenic 56333 rs386833780 10:17107590-17107590 10:17065591-17065591
45 CUBN NM_001081.3(CUBN):c.3096del (p.Ala1031_Tyr1032insTer)deletion Likely pathogenic 56334 rs386833781 10:17107550-17107550 10:17065551-17065551
46 CUBN NM_001081.3(CUBN):c.3577T>G (p.Trp1193Gly)SNV Likely pathogenic 56335 rs386833783 10:17087101-17087101 10:17045102-17045102
47 CUBN NM_001081.3(CUBN):c.3749C>T (p.Ser1250Phe)SNV Likely pathogenic 56336 rs386833784 10:17085906-17085906 10:17043907-17043907
48 CUBN NM_001081.3(CUBN):c.3999C>A (p.Cys1333Ter)SNV Likely pathogenic 56337 rs386833785 10:17083050-17083050 10:17041051-17041051
49 CUBN NM_001081.3(CUBN):c.4115C>G (p.Thr1372Arg)SNV Likely pathogenic 56338 rs386833786 10:17061885-17061885 10:17019886-17019886
50 CUBN NM_001081.3(CUBN):c.4168G>A (p.Gly1390Ser)SNV Likely pathogenic 56339 rs386833787 10:17061832-17061832 10:17019833-17019833

UniProtKB/Swiss-Prot genetic disease variations for Megaloblastic Anemia 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 Megaloblastic Anemia 1

Search GEO for disease gene expression data for Megaloblastic Anemia 1.

Pathways for Megaloblastic Anemia 1

Pathways related to Megaloblastic Anemia 1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.98 CUBN CBLIF AMN
2
Show member pathways
12.1 CUBN CBLIF AMN
3
Show member pathways
11.94 CUBN AMN
4
Show member pathways
11.7 CUBN CBLIF
5
Show member pathways
11.3 CUBN CBLIF AMN
6 10.64 CUBN CBLIF
7 10.45 CUBN CBLIF AMN
8
Show member pathways
9.64 CUBN CBLIF AMN

GO Terms for Megaloblastic Anemia 1

Cellular components related to Megaloblastic Anemia 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endosome membrane GO:0010008 9.43 CUBN AMN
2 endosome GO:0005768 9.43 CUBN CBLIF AMN
3 lysosomal lumen GO:0043202 9.4 CUBN CBLIF
4 apical part of cell GO:0045177 9.37 CUBN AMN
5 clathrin-coated pit GO:0005905 9.32 CUBN AMN
6 endocytic vesicle GO:0030139 9.16 CUBN AMN
7 brush border membrane GO:0031526 8.96 CUBN AMN
8 apical plasma membrane GO:0016324 8.8 CUBN CBLIF AMN

Biological processes related to Megaloblastic Anemia 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 high-density lipoprotein particle clearance GO:0034384 9.16 CUBN AMN
3 cobalamin metabolic process GO:0009235 9.13 CUBN CBLIF AMN
4 cobalamin transport GO:0015889 8.8 CUBN CBLIF AMN

Molecular functions related to Megaloblastic Anemia 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cobalamin binding GO:0031419 8.62 CUBN CBLIF

Sources for Megaloblastic Anemia 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
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50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
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61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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