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IRIDA
MCID: IRN004
MIFTS: 46

Iron-Refractory Iron Deficiency Anemia (IRIDA)

Categories: Blood diseases, Genetic diseases, Metabolic diseases, Oral diseases, Rare diseases, Skin diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Iron-Refractory Iron Deficiency Anemia

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MalaCards integrated aliases for Iron-Refractory Iron Deficiency Anemia:

Name: Iron-Refractory Iron Deficiency Anemia 57 20 43 58 73 36 13 71
Anemia, Hypochromic Microcytic, with Defect in Iron Metabolism 57 20 43 6
Irida 57 20 43 73
Iron-Handling Disorder, Hereditary 57 20 43
Pseudo-Iron-Deficiency Anemia 57 20 73
Irida Syndrome 20 43 58
Hypochromic Microcytic Anemia with Defect in Iron Metabolism 73
Anemia, Iron Deficiency, Iron-Refractory 39
Hereditary Iron-Handling Disorder 73

Characteristics:

Orphanet epidemiological data:

58
irida syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive


HPO:

31
iron-refractory iron deficiency anemia:
Inheritance autosomal recessive inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases
Anatomical: Blood diseases Skin diseases Oral diseases
See all MalaCards categories (disease lists)
ICD10: 33
Orphanet: 58  
Rare haematological diseases


External Ids:

OMIM® 57 206200
KEGG 36 H01278
ICD10 via Orphanet 33 D50.8
UMLS via Orphanet 72 C0085576
Orphanet 58 ORPHA209981
MedGen 41 C0085576
UMLS 71 C0085576
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Summaries for Iron-Refractory Iron Deficiency Anemia

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GARD : 20 Iron-refractory iron deficiency anemia (IRIDA) is a type of iron deficiency anemia that typically does not improve with oral iron treatment. Children with IRIDA have too little iron in their blood, which causes their red blood cells to be small (microcytic) and pale (hypochromic). The anemia tends to be mild to moderate, but without enough healthy red blood cells, different parts of the body do not get enough oxygen. Symptoms of IRIDA are usually mild, but may include pale skin and in some cases, feeling weak, tired, or dizzy. Growth and development of a child with IRIDA is usually normal. IRIDA is caused by changes or mutations in the TMPRSS6 gene and inheritance is autosomal recessive. IRIDA is usually suspected in childhood due to the results of routine blood tests, but the diagnosis is confirmed by genetic testing. Depending on the genetic change, some children may have enough improvement with oral iron treatment with vitamin C to need no other treatment. Therefore, treatment may first involve a trial of oral iron along with vitamin C for several weeks. If there is little to no improvement, treatment usually involves intravenous (IV) iron therapy, which may partially improve the anemia. Red blood cell levels often increase on their own in adulthood, so that the anemia no longer is a problem.

MalaCards based summary : Iron-Refractory Iron Deficiency Anemia, also known as anemia, hypochromic microcytic, with defect in iron metabolism, is related to microcytic anemia and hypochromic microcytic anemia. An important gene associated with Iron-Refractory Iron Deficiency Anemia is TMPRSS6 (Transmembrane Serine Protease 6), and among its related pathways/superpathways is Hfe effect on hepcidin production. The drugs Sodium citrate and Iron have been mentioned in the context of this disorder. Affiliated tissues include liver and bone, and related phenotypes are intellectual disability and ichthyosis

MedlinePlus Genetics : 43 Iron-refractory iron deficiency anemia is one of many types of anemia, which is a group of conditions characterized by a shortage of healthy red blood cells. This shortage prevents the blood from carrying an adequate supply of oxygen to the body's tissues.Iron-refractory iron deficiency anemia results from an inadequate amount (deficiency) of iron in the bloodstream. It is described as "iron-refractory" because the condition is totally resistant (refractory) to treatment with iron given orally and partially resistant to iron given in other ways, such as intravenously (by IV). In people with this form of anemia, red blood cells are abnormally small (microcytic) and pale (hypochromic). The symptoms of iron-refractory iron deficiency anemia can include tiredness (fatigue), weakness, pale skin, and other complications. These symptoms are most pronounced during childhood, although they tend to be mild. Affected individuals usually have normal growth and development.

OMIM® : 57 Finberg et al. (2008) referred to this phenotype as iron-refractory iron deficiency anemia (IRIDA) and reviewed the key features: a congenital hypochromic, microcytic anemia; a very low mean corpuscular erythrocyte volume; a low transferrin saturation; abnormal iron absorption characterized by no hematologic improvement following treatment with oral iron; and abnormal iron utilization characterized by a sluggish, incomplete response to parenteral iron. The authors noted that although urinary levels of hepcidin (606464) are typically undetectable in individuals with iron deficiency, in 5 individuals with IRIDA urinary hepcidin/creatinine ratios were within or above the normal range. (206200) (Updated 05-Mar-2021)

KEGG : 36 Iron-refractory iron deficiency anemia (IRIDA) is a rare autosomal recessive disorder characterized by hypochromic microcytic anaemia, low transferrin saturation and high levels of the iron-regulated hormone hepcidin. The disease is caused by mutations in TMPRSS6, which encodes a type II transmembrane serine protease that regulates the expression of the hepcidin.

UniProtKB/Swiss-Prot : 73 Iron-refractory iron deficiency anemia: Key features include congenital hypochromic microcytic anemia, very low mean corpuscular erythrocyte volume, low transferrin saturation, abnormal iron absorption characterized by no hematologic improvement following treatment with oral iron, and abnormal iron utilization characterized by a sluggish, incomplete response to parenteral iron.

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Related Diseases for Iron-Refractory Iron Deficiency Anemia

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Diseases related to Iron-Refractory Iron Deficiency Anemia via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 33)
# Related Disease Score Top Affiliating Genes
1 microcytic anemia 31.6 TMPRSS6 HJV EPO ATP6AP1
2 hypochromic microcytic anemia 31.0 TMPRSS6 HJV
3 iron deficiency anemia 30.8 TMPRSS6 HJV EPO
4 deficiency anemia 30.8 TMPRSS6 HJV EPO
5 iron metabolism disease 30.8 TMPRSS6 HJV EPO
6 hemochromatosis type 2 30.0 TMPRSS6 HJV
7 hemochromatosis, type 1 29.9 TMPRSS6 HJV EPO
8 autosomal recessive disease 10.6
9 anemia, hypochromic microcytic, with iron overload 1 10.4
10 renal cell carcinoma, nonpapillary 10.1
11 helicobacter pylori infection 10.1
12 essential thrombocythemia 10.1
13 myeloproliferative neoplasm 10.1
14 thrombocytosis 10.1
15 gastritis 10.1
16 end stage renal disease 10.1
17 polycythemia 10.1
18 atrophic gastritis 10.1
19 autoimmune atrophic gastritis 10.1
20 paraneoplastic syndromes 10.1
21 atransferrinemia 10.0 TMPRSS6 HJV
22 hemochromatosis, type 3 10.0 TMPRSS6 HJV
23 hemochromatosis, type 4 10.0 TMPRSS6 HJV
24 metal metabolism disorder 9.9 TMPRSS6 HJV
25 pulmonary hypertension, primary, 3 9.9
26 hemosiderosis 9.8 HJV EPO
27 anemia, congenital dyserythropoietic, type ia 9.8 HJV EPO
28 porphyria cutanea tarda 9.8 HJV EPO
29 porphyria 9.7 HJV EPO
30 hemoglobinopathy 9.7 HJV EPO
31 aceruloplasminemia 9.7 TMPRSS6 HJV
32 nutritional deficiency disease 9.7 TMPRSS6 HJV EPO
33 beta-thalassemia 9.6 TMPRSS6 HJV EPO

Graphical network of the top 20 diseases related to Iron-Refractory Iron Deficiency Anemia:



Diseases related to Iron-Refractory Iron Deficiency Anemia
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Symptoms & Phenotypes for Iron-Refractory Iron Deficiency Anemia

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Human phenotypes related to Iron-Refractory Iron Deficiency Anemia:

58 31 (show all 12)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
2 ichthyosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0008064
3 hyperkeratosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000962
4 pallor 58 31 hallmark (90%) Very frequent (99-80%) HP:0000980
5 peripheral neuropathy 58 31 hallmark (90%) Very frequent (99-80%) HP:0009830
6 abnormal intestine morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0002242
7 decreased circulating copper concentration 58 31 frequent (33%) Frequent (79-30%) HP:0011967
8 intrahepatic cholestasis 58 31 frequent (33%) Frequent (79-30%) HP:0001406
9 hypochromic microcytic anemia 31 HP:0004840
10 anisocytosis 31 HP:0011273
11 poikilocytosis 31 HP:0004447
12 elevated hepcidin level 31 HP:0031877

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Abdomen Gastrointestinal:
iron malabsorption

Laboratory Abnormalities:
inappropriately normal or increased plasma hepcidin

Hematology:
anemia, hypochromic microcytic
anemia, unresponsive to oral iron and only partially responsive to parenteral iron

Clinical features from OMIM®:

206200 (Updated 05-Mar-2021)

MGI Mouse Phenotypes related to Iron-Refractory Iron Deficiency Anemia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 integument MP:0010771 8.92 EPO HJV TMPRSS11A TMPRSS6
Sources

Drugs & Therapeutics for Iron-Refractory Iron Deficiency Anemia

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Drugs for Iron-Refractory Iron Deficiency Anemia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 10)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Sodium citrate Approved, Investigational Phase 2 68-04-2
2
Iron Approved Phase 2 7439-89-6 23925 29936
3
Citric acid Approved, Nutraceutical, Vet_approved Phase 2 77-92-9 311
4 Citrate Phase 2
5 Iron Supplement Phase 2
6 Calcium, Dietary Phase 2
7 Anticoagulants Phase 2
8 Chelating Agents Phase 2
9 Pharmaceutical Solutions Phase 2
10
Calcium Nutraceutical Phase 2 7440-70-2 271

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Triferic (Ferric Pyrophosphate Citrate) Administered Orally With Shohl's Solution for the Treatment of Iron-Refractory Iron-Deficiency Anemia Terminated NCT02905981 Phase 2 Fer-In-Sol;Shohl's solution;Triferic
2 Pharmacokinetics and Absolute Bioavailability of Fer-In-Sol (Ferrous Sulfate) and Triferic (Ferric Pyrophosphate Citrate) Administered Orally With Shohl's Solution in Healthy Volunteers Completed NCT02767128 Phase 1 Triferic;Fer-In-Sol;Shohl's solution

Search NIH Clinical Center for Iron-Refractory Iron Deficiency Anemia

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Genetic Tests for Iron-Refractory Iron Deficiency Anemia

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Anatomical Context for Iron-Refractory Iron Deficiency Anemia

About this section

MalaCards organs/tissues related to Iron-Refractory Iron Deficiency Anemia:

40
Liver, Bone
Sources

Publications for Iron-Refractory Iron Deficiency Anemia

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Articles related to Iron-Refractory Iron Deficiency Anemia:

(show top 50) (show all 129)
# Title Authors PMID Year
1
Mutations in TMPRSS6 cause iron-refractory iron deficiency anemia (IRIDA). 61 6 57
18408718 2008
2
Two nonsense mutations in the TMPRSS6 gene in a patient with microcytic anemia and iron deficiency. 6 57
18596229 2008
3
Matriptase-2 mutations in iron-refractory iron deficiency anemia patients provide new insights into protease activation mechanisms. 61 6
19592582 2009
4
Molecular mechanisms of the defective hepcidin inhibition in TMPRSS6 mutations associated with iron-refractory iron deficiency anemia. 6 61
19357398 2009
5
Iron deficiency anemia due to a defect in iron metabolism: a case report. 57
11517621 2001
6
Ferrokinetics in the syndrome of familial hypoferremic microcytic anemia with iron malabsorption. 57
10524456 1999
7
Iron deficiency: lessons from anemic mice. 57
9544492 1997
8
Microcytic anemia with iron malabsorption: an inherited disorder of iron metabolism. 57
8602626 1996
9
Heme metabolism and in vitro erythropoiesis in anemia associated with hypochromic microcytosis. 57
3354554 1988
10
Malabsorption and defective utilization of iron in three siblings. 57
7229750 1981
11
Of mice and men and microcytes. 57
7194903 1981
12
Red cell iron uptake in hereditary microcytic anemia. 57
807277 1975
13
Defect of intestinal mucosal iron uptake in mice with hereditary microcytic anemia. 57
5082324 1972
14
Hereditary microcytic anaemia in the mouse; studies in iron distribution and metabolism. 57
5070129 1972
15
Characterization and genetic studies of microcytic anemia in house mouse. 57
5427253 1970
16
Inherited microcytic anemias. 61
33275715 2020
17
Bone morphogenic proteins in iron homeostasis. 61
32585319 2020
18
Hepcidin, an overview of biochemical and clinical properties. 61
32450084 2020
19
The ectodomain of matriptase-2 plays an important nonproteolytic role in suppressing hepcidin expression in mice. 61
32384154 2020
20
LJ000328, a novel ALK2/3 kinase inhibitor, represses hepcidin and significantly improves the phenotype of IRIDA. 61
31806689 2020
21
Genetic analysis of TMPRSS6 gene in Saudi female patients with iron deficiency anemia. 61
32446932 2020
22
Pentosan polysulfate to control hepcidin expression in vitro and in vivo. 61
32088260 2020
23
Two Novel TMPRSS6 Variants in a Compound Heterozygous Child With Iron Refractory Iron Deficiency Anemia. 61
31714439 2020
24
Mechanosensitive Piezo1 ion channel protein (PIEZO1 gene): update and extended mutation analysis of hereditary xerocytosis in India. 61
32112123 2020
25
[Iron metabolism and iron-refractory iron deficiency anemia]. 61
32507812 2020
26
A novel homozygous nonsense mutation (p.Y78*) in TMPRSS6 gene causing iron-refractory iron deficiency anemia (IRIDA) in two siblings. 61
32253873 2020
27
One-pot syntheses of irida-polycyclic aromatic hydrocarbons. 61
32180921 2019
28
New diagnostic tools for delineating iron status. 61
31808893 2019
29
Iron Refractory Iron Deficiency Anemia Due to 374 Base Pairs Deletion in the TMPRSS6 Gene. 61
30130276 2019
30
Molecular perspective of iron uptake, related diseases, and treatments. 61
30956958 2019
31
Favourable improvement in haematological parameters in response to oral iron and vitamin C combination in children with Iron Refractory Iron Deficiency Anemia (IRIDA) phenotype. 61
30594846 2019
32
Hepcidin and Anemia: A Tight Relationship. 61
31649559 2019
33
Regulators of hepcidin expression. 61
30798807 2019
34
Liver iron sensing and body iron homeostasis. 61
30401708 2019
35
Hepcidin and the BMP-SMAD pathway: An unexpected liaison. 61
30798817 2019
36
Hepcidin Therapeutics. 61
30469435 2018
37
Liver HFE protein content is posttranscriptionally decreased in iron-deficient mice and rats. 61
29927322 2018
38
Metallaaromatic biaryl atropisomers. 61
30209448 2018
39
Functional diversity of TMPRSS6 isoforms and variants expressed in hepatocellular carcinoma cell lines. 61
30135444 2018
40
Rare anemias due to genetic iron metabolism defects. 61
30115430 2018
41
[Iron-refractory iron deficiency anemia in a child]. 61
29886614 2018
42
[Using target next-generation sequencing assay in diagnosing of 46 patients with suspected congenital anemias]. 61
29779353 2018
43
Iron Refractory Iron Deficiency Anaemia: A Rare Cause of Iron Deficiency Anaemia. 61
29869859 2018
44
The interaction of iron and the genome: For better and for worse. 61
29173496 2017
45
A child with severe iron-deficiency anemia and a complex TMPRSS6 genotype. 61
28447549 2017
46
Two novel mutations in TMPRSS6 associated with iron-refractory iron deficiency anemia in a mother and child. 61
28460265 2017
47
A new form of IRIDA due to combined heterozygous mutations of TMPRSS6 and ACVR1A encoding the BMP receptor ALK2. 61
28476747 2017
48
Systematic evaluation of paediatric cohort with iron refractory iron deficiency anaemia (IRIDA) phenotype reveals multiple TMPRSS6 gene variations. 61
28169443 2017
49
Iron Refractory Iron Deficiency Anemia in Dizygotic Twins Due to a Novel TMPRSS6 Gene Mutation in Addition to Polymorphisms Associated With High Susceptibility to Develop Ferropenic Anemia. 61
28491880 2017
50
Regulation of the Iron Homeostatic Hormone Hepcidin. 61
28096133 2017
Sources

Variations for Iron-Refractory Iron Deficiency Anemia

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ClinVar genetic disease variations for Iron-Refractory Iron Deficiency Anemia:

6 (show top 50) (show all 117)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TMPRSS6 NM_153609.3(TMPRSS6):c.1904_1905dup (p.Lys636fs) Duplication Pathogenic 1399 rs869320724 22:37465347-37465348 22:37069307-37069308
2 TMPRSS6 NM_153609.3(TMPRSS6):c.1813del (p.Ala605fs) Deletion Pathogenic 1400 rs767094129 22:37466579-37466579 22:37070539-37070539
3 TMPRSS6 NM_153609.3(TMPRSS6):c.1582+1G>A SNV Pathogenic 1401 rs786205058 22:37469571-37469571 22:37073531-37073531
4 TMPRSS6 NM_153609.3(TMPRSS6):c.2140+1G>C SNV Pathogenic 1402 rs786205059 22:37465112-37465112 22:37069072-37069072
5 TMPRSS6 NM_153609.3(TMPRSS6):c.1324G>A (p.Gly442Arg) SNV Pathogenic 1403 rs137853119 22:37471220-37471220 22:37075180-37075180
6 TMPRSS6 NM_153609.3(TMPRSS6):c.1065C>A (p.Tyr355Ter) SNV Pathogenic 1405 rs137853121 22:37480815-37480815 22:37084775-37084775
7 TMPRSS6 NM_153609.3(TMPRSS6):c.1382del (p.Glu461fs) Deletion Pathogenic 1406 rs1384933966 22:37470736-37470736 22:37074696-37074696
8 TMPRSS6 NM_153609.3(TMPRSS6):c.1179T>G (p.Tyr393Ter) SNV Pathogenic 1407 rs137853122 22:37480379-37480379 22:37084339-37084339
9 TMPRSS6 NM_153609.3(TMPRSS6):c.2055_2058dup (p.Val687fs) Duplication Pathogenic 1409 rs786205060 22:37465194-37465195 22:37069154-37069155
10 TMPRSS6 NM_153609.3(TMPRSS6):c.353C>A (p.Ala118Asp) SNV Pathogenic 1410 rs267607121 22:37494466-37494466 22:37098426-37098426
11 TMPRSS6 NM_153609.3(TMPRSS6):c.1564G>A (p.Glu522Lys) SNV Pathogenic 30802 rs387907018 22:37469590-37469590 22:37073550-37073550
12 TMPRSS6 NM_153609.3(TMPRSS6):c.234C>G (p.Tyr78Ter) SNV Pathogenic 617552 rs1569024289 22:37494585-37494585 22:37098545-37098545
13 TMPRSS6 NM_153609.3(TMPRSS6):c.2161C>T (p.Gln721Ter) SNV Pathogenic 627580 rs775869554 22:37462982-37462982 22:37066942-37066942
14 TMPRSS6 NM_001374504.1(TMPRSS6):c.336+2T>G SNV Pathogenic 917402 22:37494454-37494454 22:37098414-37098414
15 TMPRSS6 NM_001374504.1(TMPRSS6):c.1310_1315del (p.Arg437_Val438del) Deletion Pathogenic 917403 22:37471202-37471207 22:37075162-37075167
16 ATP6AP1 GRCh37/hg19 Xq28(chrX:153138672-153665655) copy number gain Pathogenic 523295 X:153138672-153665655
17 TMPRSS6 NM_153609.3(TMPRSS6):c.1795C>T (p.Arg599Ter) SNV Pathogenic/Likely pathogenic 1408 rs137853123 22:37466597-37466597 22:37070557-37070557
18 TMPRSS6 NM_153609.3(TMPRSS6):c.1561G>A (p.Asp521Asn) SNV Likely pathogenic 1404 rs137853120 22:37469593-37469593 22:37073553-37073553
19 TMPRSS6 NM_001374504.1(TMPRSS6):c.1651G>A (p.Gly551Ser) SNV Uncertain significance 903102 22:37466977-37466977 22:37070937-37070937
20 TMPRSS6 NM_001374504.1(TMPRSS6):c.1633C>T (p.Arg545Trp) SNV Uncertain significance 903104 22:37466995-37466995 22:37070955-37070955
21 TMPRSS6 NM_001374504.1(TMPRSS6):c.656G>A (p.Gly219Asp) SNV Uncertain significance 903164 22:37485798-37485798 22:37089758-37089758
22 TMPRSS6 NM_001374504.1(TMPRSS6):c.648C>A (p.Ser216Arg) SNV Uncertain significance 903165 22:37485806-37485806 22:37089766-37089766
23 TMPRSS6 NM_001374504.1(TMPRSS6):c.549G>A (p.Arg183=) SNV Uncertain significance 903166 22:37491986-37491986 22:37095946-37095946
24 TMPRSS6 NM_001374504.1(TMPRSS6):c.928T>C (p.Tyr310His) SNV Uncertain significance 902293 22:37482368-37482368 22:37086328-37086328
25 TMPRSS6 NM_001374504.1(TMPRSS6):c.865G>A (p.Val289Met) SNV Uncertain significance 902294 22:37482431-37482431 22:37086391-37086391
26 TMPRSS6 NM_001374504.1(TMPRSS6):c.780G>A (p.Arg260=) SNV Uncertain significance 902295 22:37485674-37485674 22:37089634-37089634
27 TMPRSS6 NM_001374504.1(TMPRSS6):c.752G>T (p.Arg251Leu) SNV Uncertain significance 902296 22:37485702-37485702 22:37089662-37089662
28 TMPRSS6 NM_001374504.1(TMPRSS6):c.124C>T (p.Leu42Phe) SNV Uncertain significance 902364 22:37499334-37499334 22:37103294-37103294
29 TMPRSS6 NM_001374504.1(TMPRSS6):c.-1-218C>G SNV Uncertain significance 902365 22:37499676-37499676 22:37103636-37103636
30 TMPRSS6 NM_001374504.1(TMPRSS6):c.*251T>A SNV Uncertain significance 903048 22:37461869-37461869 22:37065829-37065829
31 TMPRSS6 NM_001374504.1(TMPRSS6):c.*212T>A SNV Uncertain significance 903049 22:37461908-37461908 22:37065868-37065868
32 TMPRSS6 NM_001374504.1(TMPRSS6):c.1687G>A (p.Gly563Ser) SNV Uncertain significance 903101 22:37466678-37466678 22:37070638-37070638
33 TMPRSS6 NM_001374504.1(TMPRSS6):c.*24G>A SNV Uncertain significance 899428 22:37462096-37462096 22:37066056-37066056
34 TMPRSS6 NM_001374504.1(TMPRSS6):c.2374G>A (p.Gly792Ser) SNV Uncertain significance 899429 22:37462155-37462155 22:37066115-37066115
35 TMPRSS6 NM_001374504.1(TMPRSS6):c.334A>G (p.Met112Val) SNV Uncertain significance 899548 22:37494458-37494458 22:37098418-37098418
36 TMPRSS6 NM_001374504.1(TMPRSS6):c.2250+7C>A SNV Uncertain significance 900548 22:37462859-37462859 22:37066819-37066819
37 TMPRSS6 NM_001374504.1(TMPRSS6):c.2204G>A (p.Arg735His) SNV Uncertain significance 900549 22:37462912-37462912 22:37066872-37066872
38 TMPRSS6 NM_001374504.1(TMPRSS6):c.1309C>G (p.Arg437Gly) SNV Uncertain significance 900613 22:37471208-37471208 22:37075168-37075168
39 TMPRSS6 NM_001374504.1(TMPRSS6):c.1086G>A (p.Thr362=) SNV Uncertain significance 900614 22:37480767-37480767 22:37084727-37084727
40 TMPRSS6 NM_001374504.1(TMPRSS6):c.287G>A (p.Arg96His) SNV Uncertain significance 900681 22:37494505-37494505 22:37098465-37098465
41 TMPRSS6 NM_001374504.1(TMPRSS6):c.251G>C (p.Arg84Pro) SNV Uncertain significance 900682 22:37494541-37494541 22:37098501-37098501
42 TMPRSS6 NM_001374504.1(TMPRSS6):c.212C>T (p.Ala71Val) SNV Uncertain significance 900683 22:37494580-37494580 22:37098540-37098540
43 TMPRSS6 NM_001374504.1(TMPRSS6):c.183G>A (p.Val61=) SNV Uncertain significance 900684 22:37499275-37499275 22:37103235-37103235
44 TMPRSS6 NM_001374504.1(TMPRSS6):c.163G>T (p.Val55Leu) SNV Uncertain significance 900685 22:37499295-37499295 22:37103255-37103255
45 TMPRSS6 NM_001374504.1(TMPRSS6):c.2099C>T (p.Ala700Val) SNV Uncertain significance 902216 22:37465127-37465127 22:37069087-37069087
46 TMPRSS6 NM_001374504.1(TMPRSS6):c.2014T>C (p.Ser672Pro) SNV Uncertain significance 902218 22:37465212-37465212 22:37069172-37069172
47 TMPRSS6 NM_001374504.1(TMPRSS6):c.2004G>A (p.Pro668=) SNV Uncertain significance 902219 22:37465222-37465222 22:37069182-37069182
48 TMPRSS6 NM_001374504.1(TMPRSS6):c.1999C>T (p.His667Tyr) SNV Uncertain significance 902220 22:37465227-37465227 22:37069187-37069187
49 TMPRSS6 NM_001374504.1(TMPRSS6):c.1851C>T (p.Ser617=) SNV Uncertain significance 902221 22:37465375-37465375 22:37069335-37069335
50 TMPRSS6 NM_153609.3(TMPRSS6):c.438A>G (p.Gly146=) SNV Uncertain significance 341602 rs375681801 22:37492124-37492124 22:37096084-37096084

UniProtKB/Swiss-Prot genetic disease variations for Iron-Refractory Iron Deficiency Anemia:

73 (show all 25)
# Symbol AA change Variation ID SNP ID
1 TMPRSS6 p.Gly442Arg VAR_044435 rs137853119
2 TMPRSS6 p.Asp521Asn VAR_044436 rs137853120
3 TMPRSS6 p.Arg774Cys VAR_044437 rs776069764
4 TMPRSS6 p.Tyr141Cys VAR_064075 rs143069221
5 TMPRSS6 p.Ile212Thr VAR_064076 rs776877803
6 TMPRSS6 p.Arg271Gln VAR_064077 rs776180387
7 TMPRSS6 p.Ser304Leu VAR_064078 rs137327280
8 TMPRSS6 p.Cys510Ser VAR_064079
9 TMPRSS6 p.Glu114Lys VAR_068665 rs199474803
10 TMPRSS6 p.Ala118Asp VAR_068666 rs267607121
11 TMPRSS6 p.Leu235Pro VAR_068668 rs199474802
12 TMPRSS6 p.Tyr418Cys VAR_068669 rs199474804
13 TMPRSS6 p.Glu522Lys VAR_068671 rs387907018
14 TMPRSS6 p.Gly603Arg VAR_068672 rs769083817
15 TMPRSS6 p.Pro765Ala VAR_068674 rs199474805
16 TMPRSS6 p.Trp247Cys VAR_072901
17 TMPRSS6 p.Thr287Asn VAR_072902 rs144996257
18 TMPRSS6 p.Cys335Phe VAR_072903
19 TMPRSS6 p.Cys510Arg VAR_072904
20 TMPRSS6 p.Asp521Gly VAR_072905
21 TMPRSS6 p.Trp590Arg VAR_072906 rs770897887
22 TMPRSS6 p.Arg597Trp VAR_072907 rs773272073
23 TMPRSS6 p.Ala605Gly VAR_072908
24 TMPRSS6 p.Leu606Arg VAR_072909
25 TMPRSS6 p.Ser623Thr VAR_072910

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Expression for Iron-Refractory Iron Deficiency Anemia

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Search GEO for disease gene expression data for Iron-Refractory Iron Deficiency Anemia.
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Pathways for Iron-Refractory Iron Deficiency Anemia

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Pathways related to Iron-Refractory Iron Deficiency Anemia according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Hfe effect on hepcidin production 1
9.47 TMPRSS6 HJV
Sources

GO Terms for Iron-Refractory Iron Deficiency Anemia

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Biological processes related to Iron-Refractory Iron Deficiency Anemia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 negative regulation of transcription by RNA polymerase II GO:0000122 9.33 TMPRSS6 HJV EPO
2 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.26 EPO ATP6AP1
3 iron ion homeostasis GO:0055072 8.96 TMPRSS6 HJV
4 cellular iron ion homeostasis GO:0006879 8.8 TMPRSS6 HJV ATP6AP1

Molecular functions related to Iron-Refractory Iron Deficiency Anemia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 serine-type endopeptidase activity GO:0004252 8.96 TMPRSS6 TMPRSS11A
2 serine-type peptidase activity GO:0008236 8.62 TMPRSS6 TMPRSS11A
Sources

Sources for Iron-Refractory Iron Deficiency Anemia

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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