RH-MGA1
MCID: MGL018
MIFTS: 47

Megaloblastic Anemia 1 (RH-MGA1)

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

Aliases & Classifications for Megaloblastic Anemia 1

MalaCards integrated aliases for Megaloblastic Anemia 1:

Name: Megaloblastic Anemia 1 58 54 26
Imerslund-Grasbeck Syndrome 58 54 26 76 56
Enterocyte Cobalamin Malabsorption 58 54 26
Pernicious Anemia, Juvenile, Due to Selective Intestinal Malabsorption of Vitamin B12, with Proteinuria 58 54
Selective Cobalamin Malabsorption with Proteinuria 54 60
Defect of Enterocyte Intrinsic Factor Receptor 54 26
Megaloblastic Anemia-1, Finnish Type 58 13
Familial Megaloblastic Anemia 54 60
Imerslund-Gräsbeck Syndrome 26 60
Igs 58 54
Juvenile Pernicious Anemia with Proteinuria Due to Selective Intestinal Malabsorption of Vitamin B12 26
Megaloblastic Anemia Due to Inborn Errors of Metabolism 74
Enterocyte Intrinsic Factor Receptor, Defect of 58
Recessive Hereditary Megaloblastic Anemia 1 76
Megaloblastic Anemia-1, Norwegian Type 58
Megaloblastic Anemia 1, Norwegian Type 6
Megaloblastic Anemia 1, Finnish Type 6
3-@methylglutaconic Aciduria, Type I 74
Imerslund-Grasbeck Syndrome; Igs 58
Anemia, Megaloblastic, Type 1 41
Gräsbeck-Imerslund Disease 54
Mga1 Norwegian Type 76
Rh-Mga1 76
Mga1 58
I-Gs 76

Characteristics:

Orphanet epidemiological data:

60
imerslund-gräsbeck syndrome
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Finland),1-9/1000000 (Norway); Age of onset: Childhood;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
early childhood onset (before age 5 years)


HPO:

33
megaloblastic anemia 1:
Onset and clinical course childhood onset
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 58 261100
ICD10 via Orphanet 35 D51.1
UMLS via Orphanet 75 C1306856
Orphanet 60 ORPHA35858

Summaries for Megaloblastic Anemia 1

Genetics Home Reference : 26 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.

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, thyroid and t cells, and related phenotypes are proteinuria and paresthesia

NIH Rare Diseases : 54 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 : 58 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 : 76 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 685)
# Related Disease Score Top Affiliating Genes
1 3-methylglutaconic aciduria, type i 32.3 AMN CUBN
2 megaloblastic anemia 31.5 AMN CBLIF CUBN
3 hyper-ige recurrent infection syndrome 1, autosomal dominant 12.7
4 hyper-ige recurrent infection syndrome 2, autosomal recessive 12.5
5 hyper ige syndrome 12.5
6 hyper-ige recurrent infection syndrome 3, autosomal recessive 12.5
7 erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige 12.4
8 congenital disorder of glycosylation, type ig 12.4
9 ige responsiveness, atopic 12.4
10 amelogenesis imperfecta, type ig 12.3
11 usher syndrome, type ig 12.1
12 selective ige deficiency disease 12.1
13 immunodeficiency 35 12.0
14 amelogenesis imperfecta hypoplastic type, ig 12.0
15 acquired monoclonal ig light chain-associated fanconi syndrome 12.0
16 epilepsy, idiopathic generalized 12.0
17 netherton syndrome 11.9
18 immunodeficiency 23 11.9
19 alg12-congenital disorder of glycosylation 11.8
20 immunodeficiency 11b with atopic dermatitis 11.7
21 iminoglycinuria 11.6
22 common variable immunodeficiency 11.6
23 immunodeficiency with hyper-igm, type 1 11.5
24 immunoglobulin e concentration, serum 11.5
25 asthma 11.5
26 non-immunoglobulin-mediated membranoproliferative glomerulonephritis 11.5
27 allergic asthma 11.4
28 agammaglobulinemia, x-linked 11.4
29 immunodeficiency with hyper-igm, type 4 11.4
30 nephrotic syndrome, type 7 11.3
31 dermatitis, atopic, 2 11.3
32 asthma-related traits 4 11.3
33 epilepsy, idiopathic generalized 10 11.2
34 immunodeficiency with hyper-igm, type 2 11.2
35 immunodeficiency with hyper-igm, type 5 11.2
36 3-methylglutaconic aciduria, type iii 11.1
37 hyperglycinuria 11.1
38 peeling skin syndrome 1 11.1
39 omenn syndrome 11.1
40 asthma-related traits 1 11.1
41 asthma-related traits 2 11.1
42 asthma-related traits 5 11.1
43 asthma-related traits 7 11.1
44 amyloidosis, hereditary, transthyretin-related 10.9
45 immunoglobulin a deficiency 1 10.9
46 immunodeficiency with hyper-igm, type 3 10.9
47 asthma-related traits 3 10.9
48 epilepsy, idiopathic generalized 13 10.9
49 asthma-related traits 6 10.9
50 leukocyte adhesion deficiency, type iii 10.9

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:

33 (show all 8)
# Description HPO Frequency HPO Source Accession
1 proteinuria 33 HP:0000093
2 paresthesia 33 HP:0003401
3 dementia 33 HP:0000726
4 confusion 33 HP:0001289
5 sensory impairment 33 HP:0003474
6 megaloblastic anemia 33 HP:0001889
7 malabsorption of vitamin b12 33 HP:0200118
8 vitamin b12 deficiency 33 HP:0100502

Symptoms via clinical synopsis from OMIM:

58
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:

42
Kidney, Thyroid, T Cells, B Cells, Skin, Lung, Prostate

Publications for Megaloblastic Anemia 1

Articles related to Megaloblastic Anemia 1:

(show top 50) (show all 52)
# Title Authors Year
1
Imerslund-Gräsbeck Syndrome in an Infant with a Novel Intronic Variant in the AMN Gene: A Case Report. ( 30691194 )
2019
2
Daily oral cyanocobalamin supplementation in Beagles with hereditary cobalamin malabsorption (Imerslund-Gräsbeck syndrome) maintains normal clinical and cellular cobalamin status. ( 30554416 )
2018
3
Prospective long-term evaluation of parenteral hydroxocobalamin supplementation in juvenile beagles with selective intestinal cobalamin malabsorption (Imerslund-Gräsbeck syndrome). ( 29572946 )
2018
4
Systemic Scedosporium prolificans infection in an 11-month-old Border collie with cobalamin deficiency secondary to selective cobalamin malabsorption (canine Imerslund-Gräsbeck syndrome). ( 28390190 )
2018
5
Cabot rings and marked anisopoikilocytosis in Imerslund-Gräsbeck syndrome. ( 29301775 )
2018
6
Imerslund-Grasbeck syndrome in a 5-year-old Iranian boy. ( 27942180 )
2016
7
VIT. B12 DEFICIENCY IN CHILDREN (IMERSLUND-GRÄSBECK SYNDROME IN TWO PAIRS OF SIBLINGS). ( 26958680 )
2015
8
Novel compound heterozygous mutations in AMN cause Imerslund-Gräsbeck syndrome in two half-sisters: a case report. ( 26040326 )
2015
9
Hepatic fungal infection in a young beagle with unrecognised hereditary cobalamin deficiency (Imerslund-Gräsbeck syndrome). ( 25131805 )
2015
10
Selective intestinal cobalamin malabsorption with proteinuria (Imerslund-Gräsbeck syndrome) in juvenile Beagles. ( 24433284 )
2014
11
A frameshift mutation in the cubilin gene (CUBN) in Beagles with Imerslund-Gräsbeck syndrome (selective cobalamin malabsorption). ( 24164695 )
2014
12
Reversible skin hyperpigmentation in Imerslund-Grasbeck syndrome. ( 24222293 )
2013
13
Detailed investigations of proximal tubular function in Imerslund-Gräsbeck syndrome. ( 24156255 )
2013
14
Imerslund-Gräsbeck syndrome in a 25-month-old Italian girl caused by a homozygous mutation in AMN. ( 24044590 )
2013
15
An exon 53 frameshift mutation in CUBN abrogates cubam function and causes Imerslund-Gräsbeck syndrome in dogs. ( 23746554 )
2013
16
A frameshift mutation in the cubilin gene (CUBN) in Border Collies with Imerslund-Gräsbeck syndrome (selective cobalamin malabsorption). ( 23613799 )
2013
17
A long-term follow-up of an Imerslund-Grasbeck syndrome patient with proteinuria. ( 23364648 )
2013
18
Imerslund-Gräsbeck syndrome: new mutation in amnionless. ( 22631584 )
2012
19
Unusual cause of childhood anemia: Imerslund Grasbeck syndrome. ( 22219566 )
2011
20
Ancient founder mutation is responsible for Imerslund-Gräsbeck Syndrome among diverse ethnicities. ( 22078000 )
2011
21
Luminal expression of cubilin is impaired in Imerslund-Grasbeck syndrome with compound AMN mutations in intron 3 and exon 7. ( 21750092 )
2011
22
A patient with cubilin deficiency. ( 21208123 )
2011
23
Marathon of eponyms: 9 Imerslund-Grasbeck syndrome (Juvenile pernicious anaemia). ( 20374509 )
2010
24
Imerslund-Grasbeck syndrome: association with diabetes mellitus. ( 19346573 )
2009
25
Imerslund-Gräsbeck syndrome in a 15-year-old German girl caused by compound heterozygous mutations in CUBN. ( 17668238 )
2008
26
Amnionless (AMN) mutations in Imerslund-Gräsbeck syndrome may be associated with disturbed vitamin B12 transport into the CNS. ( 18181028 )
2008
27
Imerslund-Gräsbeck syndrome (selective vitamin B(12) malabsorption with proteinuria). ( 16722557 )
2006
28
Imerslund-Grasbeck syndrome associated with recurrent aphthous stomatitis and defective neutrophil function. ( 17114957 )
2006
29
Amnionless, essential for mouse gastrulation, is mutated in recessive hereditary megaloblastic anemia. ( 12590260 )
2003
30
Late onset of Imerslund-Gräsbeck syndrome without proteinuria in four children of one family from the Lebanon. ( 14593474 )
2003
31
Canine Imerslund-Gräsbeck syndrome maps to a region orthologous to HSA14q. ( 14722725 )
2003
32
Cubilin P1297L mutation associated with hereditary megaloblastic anemia 1 causes impaired recognition of intrinsic factor-vitamin B(12) by cubilin. ( 10887099 )
2000
33
Recurrent urinary tract infections and genitourinary tract abnormalities in the Imerslund-Gräsbeck syndrome. ( 10845232 )
2000
34
Imerslund-Gräsbeck syndrome in an African patient. ( 10341506 )
1999
35
Imerslund-Gräsbeck syndrome. ( 10745371 )
1999
36
Mutations in CUBN, encoding the intrinsic factor-vitamin B12 receptor, cubilin, cause hereditary megaloblastic anaemia 1. ( 10080186 )
1999
37
Overexpression of an unstable intrinsic factor-cobalamin receptor in Imerslund-Gräsbeck syndrome. ( 9649473 )
1998
38
Efficacy of oral administration of high-dose cobamamide in a patient with Imerslund-Gräsbeck syndrome. ( 8837146 )
1996
39
A case report of 46,XX,del(21)(q22) de novo deletion associated with Imerslund-Grasbeck syndrome. ( 9001810 )
1996
40
Familial selective vitamin B12 malabsorption (Imerslund-Gräsbeck syndrome) in a pool of Turkish patients. ( 7703038 )
1995
41
Imerslund-Grasbeck syndrome in a Chinese family with distinct skin lesions refractory to vitamin B12. ( 7962612 )
1994
42
Failure to thrive is an early symptom of the imerslund Gräsbeck syndrome. ( 8166372 )
1994
43
Imerslund-Gräsbeck syndrome coexisting with beta-thalassemia trait. ( 8204449 )
1994
44
Reversal of severe neurological abnormalities after vitamin B12 replacement in the Imerslund-Grasbeck syndrome. ( 1940989 )
1991
45
Imerslund-Gräsbeck syndrome in two brothers: renal biopsy and ultrastructural findings. ( 1782115 )
1991
46
Imerslund-Gräsbeck syndrome in a Saudi family. ( 1750351 )
1991
47
Imerslund-Grasbeck syndrome in a Libyan boy. ( 2475066 )
1989
48
Megaloblastic anemia characterized by microcytosis: Imerslund-Grasbeck syndrome with coexistent alpha-thalassemia. ( 3368285 )
1988
49
Absent ileal uptake of IF-bound vitamin B12 in vivo in the Imerslund-Grasbeck syndrome (familial vitamin B12 malabsorption with proteinuria). ( 3972280 )
1985
50
Imerslund-Gräsbeck syndrome and generalized malabsorption. ( 6673217 )
1983

Variations for Megaloblastic Anemia 1

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

76
# Symbol AA change Variation ID SNP ID
1 AMN p.Thr41Ile VAR_015733 rs119478058
2 CUBN p.Pro1297Leu VAR_025288 rs121434430

ClinVar genetic disease variations for Megaloblastic Anemia 1:

6 (show top 50) (show all 264)
# Gene Variation Type Significance SNP ID Assembly Location
1 CUBN NM_001081.3(CUBN): c.1230+1G> A single nucleotide variant Likely pathogenic rs386833766 GRCh37 Chromosome 10, 17147455: 17147455
2 CUBN NM_001081.3(CUBN): c.1230+1G> A single nucleotide variant Likely pathogenic rs386833766 GRCh38 Chromosome 10, 17105456: 17105456
3 CUBN NM_001081.3(CUBN): c.1436C> G (p.Ser479Ter) single nucleotide variant Likely pathogenic rs386833767 GRCh37 Chromosome 10, 17145218: 17145218
4 CUBN NM_001081.3(CUBN): c.1436C> G (p.Ser479Ter) single nucleotide variant Likely pathogenic rs386833767 GRCh38 Chromosome 10, 17103219: 17103219
5 CUBN NM_001081.3(CUBN): c.1526delG (p.Gly509Glufs) deletion Likely pathogenic rs386833768 GRCh37 Chromosome 10, 17145128: 17145128
6 CUBN NM_001081.3(CUBN): c.1526delG (p.Gly509Glufs) deletion Likely pathogenic rs386833768 GRCh38 Chromosome 10, 17103129: 17103129
7 CUBN NM_001081.3(CUBN): c.1000C> T (p.Gln334Ter) single nucleotide variant not provided rs561240556 GRCh37 Chromosome 10, 17152933: 17152933
8 CUBN NM_001081.3(CUBN): c.1000C> T (p.Gln334Ter) single nucleotide variant not provided rs561240556 GRCh38 Chromosome 10, 17110934: 17110934
9 CUBN NM_001081.3(CUBN): c.3604G> A (p.Ala1202Thr) single nucleotide variant Uncertain significance rs141740096 GRCh37 Chromosome 10, 17087074: 17087074
10 CUBN NM_001081.3(CUBN): c.3604G> A (p.Ala1202Thr) single nucleotide variant Uncertain significance rs141740096 GRCh38 Chromosome 10, 17045075: 17045075
11 CUBN NM_001081.3(CUBN): c.3473G> A (p.Trp1158Ter) single nucleotide variant Likely pathogenic GRCh38 Chromosome 10, 17045951: 17045951
12 CUBN NM_001081.3(CUBN): c.3473G> A (p.Trp1158Ter) single nucleotide variant Likely pathogenic GRCh37 Chromosome 10, 17087950: 17087950
13 CUBN NM_001081.3(CUBN): c.4921del (p.Tyr1641Ilefs) deletion Likely pathogenic GRCh38 Chromosome 10, 16952324: 16952324
14 CUBN NM_001081.3(CUBN): c.4921del (p.Tyr1641Ilefs) deletion Likely pathogenic GRCh37 Chromosome 10, 16994323: 16994323
15 CUBN NM_001081.3(CUBN): c.5549-2A> C single nucleotide variant Likely pathogenic GRCh38 Chromosome 10, 16939149: 16939149
16 CUBN NM_001081.3(CUBN): c.5549-2A> C single nucleotide variant Likely pathogenic GRCh37 Chromosome 10, 16981148: 16981148
17 CUBN NM_001081.3(CUBN): c.5600del (p.Phe1867Serfs) deletion Pathogenic GRCh38 Chromosome 10, 16939096: 16939096
18 CUBN NM_001081.3(CUBN): c.5600del (p.Phe1867Serfs) deletion Pathogenic GRCh37 Chromosome 10, 16981095: 16981095
19 CUBN NM_001081.3(CUBN): c.7797C> G (p.Cys2599Trp) single nucleotide variant Uncertain significance GRCh38 Chromosome 10, 16906318: 16906318
20 CUBN NM_001081.3(CUBN): c.7797C> G (p.Cys2599Trp) single nucleotide variant Uncertain significance GRCh37 Chromosome 10, 16948317: 16948317
21 CUBN NM_001081.3(CUBN): c.9524C> A (p.Ser3175Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 10, 16851374: 16851374
22 CUBN NM_001081.3(CUBN): c.9524C> A (p.Ser3175Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 10, 16893373: 16893373
23 CUBN NM_001081.3(CUBN): c.9922T> C (p.Trp3308Arg) single nucleotide variant Uncertain significance GRCh38 Chromosome 10, 16840440: 16840440
24 CUBN NM_001081.3(CUBN): c.9922T> C (p.Trp3308Arg) single nucleotide variant Uncertain significance GRCh37 Chromosome 10, 16882439: 16882439
25 CUBN NM_001081.3(CUBN): c.9949C> T (p.Gln3317Ter) single nucleotide variant Likely pathogenic GRCh38 Chromosome 10, 16840413: 16840413
26 CUBN NM_001081.3(CUBN): c.9949C> T (p.Gln3317Ter) single nucleotide variant Likely pathogenic GRCh37 Chromosome 10, 16882412: 16882412
27 AMN NM_030943.3(AMN): c.1343_1348dup (p.Ala449_Glu450insGlyAla) duplication Uncertain significance GRCh37 Chromosome 14, 103396998: 103397003
28 AMN NM_030943.3(AMN): c.1343_1348dup (p.Ala449_Glu450insGlyAla) duplication Uncertain significance GRCh38 Chromosome 14, 102930661: 102930666
29 CUBN NM_001081.3(CUBN): c.5302_5304del (p.Ile1768del) deletion Uncertain significance GRCh37 Chromosome 10, 16989272: 16989274
30 CUBN NM_001081.3(CUBN): c.5302_5304del (p.Ile1768del) deletion Uncertain significance GRCh38 Chromosome 10, 16947273: 16947275
31 CUBN NM_001081.3(CUBN): c.10285dup (p.Gln3429Profs) duplication Likely pathogenic GRCh37 Chromosome 10, 16877090: 16877090
32 CUBN NM_001081.3(CUBN): c.10285dup (p.Gln3429Profs) duplication Likely pathogenic GRCh38 Chromosome 10, 16835091: 16835091
33 CUBN NM_001081.3(CUBN): c.3932G> A (p.Arg1311Gln) single nucleotide variant Uncertain significance GRCh37 Chromosome 10, 17083117: 17083117
34 CUBN NM_001081.3(CUBN): c.3932G> A (p.Arg1311Gln) single nucleotide variant Uncertain significance GRCh38 Chromosome 10, 17041118: 17041118
35 CUBN NM_001081.3(CUBN): c.6728C> T (p.Pro2243Leu) single nucleotide variant Uncertain significance GRCh38 Chromosome 10, 16920056: 16920056
36 CUBN NM_001081.3(CUBN): c.6728C> T (p.Pro2243Leu) single nucleotide variant Uncertain significance GRCh37 Chromosome 10, 16962055: 16962055
37 CUBN NM_001081.3(CUBN): c.7390A> C (p.Thr2464Pro) single nucleotide variant Uncertain significance GRCh37 Chromosome 10, 16955953: 16955953
38 CUBN NM_001081.3(CUBN): c.7390A> C (p.Thr2464Pro) single nucleotide variant Uncertain significance GRCh38 Chromosome 10, 16913954: 16913954
39 CUBN NM_001081.3(CUBN): c.7906C> T (p.Arg2636Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 10, 16906209: 16906209
40 CUBN NM_001081.3(CUBN): c.7906C> T (p.Arg2636Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 10, 16948208: 16948208
41 CUBN NM_001081.3(CUBN): c.9555T> G (p.Cys3185Trp) single nucleotide variant Uncertain significance GRCh38 Chromosome 10, 16851343: 16851343
42 CUBN NM_001081.3(CUBN): c.9555T> G (p.Cys3185Trp) single nucleotide variant Uncertain significance GRCh37 Chromosome 10, 16893342: 16893342
43 AMN NM_030943.3(AMN): c.844-1G> C single nucleotide variant Likely pathogenic GRCh37 Chromosome 14, 103396260: 103396260
44 AMN NM_030943.3(AMN): c.844-1G> C single nucleotide variant Likely pathogenic GRCh38 Chromosome 14, 102929923: 102929923
45 CUBN NM_001081.3(CUBN): c.2306G> A (p.Arg769Gln) single nucleotide variant Uncertain significance GRCh37 Chromosome 10, 17113966: 17113966
46 CUBN NM_001081.3(CUBN): c.2306G> A (p.Arg769Gln) single nucleotide variant Uncertain significance GRCh38 Chromosome 10, 17071967: 17071967
47 CUBN NM_001081.3(CUBN): c.4459C> T (p.Arg1487Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 10, 17026170: 17026170
48 CUBN NM_001081.3(CUBN): c.4459C> T (p.Arg1487Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 10, 16984171: 16984171
49 CUBN NM_001081.3(CUBN): c.5530C> T (p.Gln1844Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 10, 16940050: 16940050
50 CUBN NM_001081.3(CUBN): c.5530C> T (p.Gln1844Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 10, 16982049: 16982049

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 AMN CBLIF CUBN
2
Show member pathways
12.1 AMN CBLIF CUBN
3
Show member pathways
11.94 AMN CUBN
4
Show member pathways
11.7 CBLIF CUBN
5
Show member pathways
11.3 AMN CBLIF CUBN
6 10.64 CBLIF CUBN
7 10.45 AMN CBLIF CUBN
8
Show member pathways
9.64 AMN CBLIF CUBN

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 AMN CUBN
2 lysosomal lumen GO:0043202 9.4 CBLIF CUBN
3 apical part of cell GO:0045177 9.37 AMN CUBN
4 endosome GO:0005768 9.33 AMN CBLIF CUBN
5 clathrin-coated pit GO:0005905 9.32 AMN CUBN
6 endocytic vesicle GO:0030139 9.26 AMN CUBN
7 brush border membrane GO:0031526 8.96 AMN CUBN
8 apical plasma membrane GO:0016324 8.8 AMN CBLIF CUBN

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 AMN CUBN
2 high-density lipoprotein particle clearance GO:0034384 9.16 AMN CUBN
3 cobalamin metabolic process GO:0009235 9.13 AMN CBLIF CUBN
4 cobalamin transport GO:0015889 8.8 AMN CBLIF CUBN

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 CBLIF CUBN

Sources for Megaloblastic Anemia 1

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