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IRIDA
MCID: IRN004
MIFTS: 47

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 56 52 25 58 73 36 13 71
Irida 56 52 25 73
Anemia, Hypochromic Microcytic, with Defect in Iron Metabolism 56 52 25
Iron-Handling Disorder, Hereditary 56 52 25
Pseudo-Iron-Deficiency Anemia 56 52 73
Irida Syndrome 52 25 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:

56
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 56 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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NIH Rare Diseases : 52 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 irida, 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 skin, testes and liver, and related phenotypes are intellectual disability and ichthyosis

Genetics Home Reference : 25 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 : 56 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)

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 36)
# Related Disease Score Top Affiliating Genes
1 microcytic anemia 32.2 TMPRSS6 HJV EPO
2 hypochromic microcytic anemia 30.7 TMPRSS6 HJV
3 anemia, x-linked, with or without neutropenia and/or platelet abnormalities 30.5 HJV EPO
4 iron deficiency anemia 30.2 TMPRSS6 HJV EPO
5 deficiency anemia 30.2 TMPRSS6 HJV EPO
6 iron metabolism disease 30.2 TMPRSS6 HJV EPO
7 hemochromatosis type 2 29.8 TMPRSS6 HJV
8 hemochromatosis, type 1 29.5 TMPRSS6 HJV
9 autosomal recessive disease 10.6
10 anemia, hypochromic microcytic, with iron overload 1 10.4
11 pulmonary hypertension, primary, 3 10.1
12 renal cell carcinoma, nonpapillary 10.1
13 helicobacter pylori infection 10.1
14 essential thrombocythemia 10.1
15 myeloproliferative neoplasm 10.1
16 thrombocytosis 10.1
17 gastritis 10.1
18 end stage renal disease 10.1
19 polycythemia 10.1
20 atrophic gastritis 10.1
21 autoimmune atrophic gastritis 10.1
22 paraneoplastic syndromes 10.1
23 hemochromatosis, type 3 9.8 TMPRSS6 HJV
24 atransferrinemia 9.8 TMPRSS6 HJV
25 hemochromatosis, type 4 9.8 TMPRSS6 HJV
26 metal metabolism disorder 9.7 TMPRSS6 HJV
27 anemia, sideroblastic, 1 9.7 TMPRSS6 HJV
28 anemia, congenital dyserythropoietic, type ia 9.6 HJV EPO
29 aceruloplasminemia 9.5 TMPRSS6 HJV
30 hemosiderosis 9.5 HJV EPO
31 hemoglobinopathy 9.5 HJV EPO
32 porphyria cutanea tarda 9.4 HJV EPO
33 porphyria 9.4 HJV EPO
34 nutritional deficiency disease 9.2 TMPRSS6 HJV EPO
35 thalassemia 9.2 TMPRSS6 HJV EPO
36 beta-thalassemia 9.2 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 peripheral neuropathy 58 31 hallmark (90%) Very frequent (99-80%) HP:0009830
4 hyperkeratosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000962
5 pallor 58 31 hallmark (90%) Very frequent (99-80%) HP:0000980
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 poikilocytosis 31 HP:0004447
11 anisocytosis 31 HP:0011273
12 elevated hepcidin level 31 HP:0031877

Symptoms via clinical synopsis from OMIM:

56
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

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

45
# Description MGI Source Accession Score Top Affiliating Genes
1 integument MP:0010771 9.26 EPO HJV TMPRSS11A TMPRSS6
2 liver/biliary system MP:0005370 8.8 EPO HJV 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 11)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Sodium citrate Approved, Investigational Phase 2 68-04-2
2
Iron Approved, Experimental Phase 2 15438-31-0, 7439-89-6 27284 23925
3
Citric acid Approved, Nutraceutical, Vet_approved Phase 2 77-92-9 311
4 Citrate Phase 2
5 Anticoagulants Phase 2
6 Pharmaceutical Solutions Phase 2
7 Chelating Agents Phase 2
8 Iron Supplement Phase 2
9 Calcium, Dietary Phase 2
10
Calcium Nutraceutical Phase 2 7440-70-2 271
11 Hepcidins

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 Completed 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
3 The Effect of Genetic Variation in TMPRSS6 Gene (SNP rs855791) on Oral Iron Absorption: an Iron Stable Isotope Study Completed NCT03317873
4 Assessing the Effects of Genetic Variations Within the Hepcidin Pathway Genes on Oral Iron Absorption Using a Genes-in-Action Study Design Completed NCT03341338

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

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

40
Skin, Testes, 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 127)
# Title Authors PMID Year
1
Mutations in TMPRSS6 cause iron-refractory iron deficiency anemia (IRIDA). 6 56 61
18408718 2008
2
Two nonsense mutations in the TMPRSS6 gene in a patient with microcytic anemia and iron deficiency. 6 56
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. 61 6
19357398 2009
5
Iron deficiency anemia due to a defect in iron metabolism: a case report. 56
11517621 2001
6
Ferrokinetics in the syndrome of familial hypoferremic microcytic anemia with iron malabsorption. 56
10524456 1999
7
Iron deficiency: lessons from anemic mice. 56
9544492 1997
8
Microcytic anemia with iron malabsorption: an inherited disorder of iron metabolism. 56
8602626 1996
9
Heme metabolism and in vitro erythropoiesis in anemia associated with hypochromic microcytosis. 56
3354554 1988
10
Of mice and men and microcytes. 56
7194903 1981
11
Malabsorption and defective utilization of iron in three siblings. 56
7229750 1981
12
Red cell iron uptake in hereditary microcytic anemia. 56
807277 1975
13
Defect of intestinal mucosal iron uptake in mice with hereditary microcytic anemia. 56
5082324 1972
14
Hereditary microcytic anaemia in the mouse; studies in iron distribution and metabolism. 56
5070129 1972
15
Characterization and genetic studies of microcytic anemia in house mouse. 56
5427253 1970
16
Two Novel TMPRSS6 Variants in a Compound Heterozygous Child With Iron Refractory Iron Deficiency Anemia. 61
31714439 2020
17
Hepcidin, an overview of biochemical and clinical properties. 61
32450084 2020
18
Genetic analysis of TMPRSS6 gene in Saudi female patients with iron deficiency anemia. 61
32446932 2020
19
The Ectodomain of Matriptase-2 Plays an Important Non-Proteolytic Role in Suppressing Hepcidin Expression in Mice. 61
32384154 2020
20
Pentosan polysulfate to control hepcidin expression in vitro and in vivo. 61
32088260 2020
21
Mechanosensitive Piezo1 ion channel protein (PIEZO1 gene): update and extended mutation analysis of hereditary xerocytosis in India. 61
32112123 2020
22
[Iron metabolism and iron-refractory iron deficiency anemia]. 61
32507812 2020
23
A novel homozygous nonsense mutation (p.Y78*) in TMPRSS6 gene causing iron-refractory iron deficiency anemia (IRIDA) in two siblings. 61
32253873 2020
24
New diagnostic tools for delineating iron status. 61
31808893 2019
25
One-pot syntheses of irida-polycyclic aromatic hydrocarbons. 61
32180921 2019
26
LJ000328, a novel ALK2/3 kinase inhibitor, represses hepcidin and significantly improves the phenotype of IRIDA. 61
31806689 2019
27
Iron Refractory Iron Deficiency Anemia Due to 374 Base Pairs Deletion in the TMPRSS6 Gene. 61
30130276 2019
28
Molecular perspective of iron uptake, related diseases, and treatments. 61
30956958 2019
29
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
30
Liver iron sensing and body iron homeostasis. 61
30401708 2019
31
Hepcidin and the BMP-SMAD pathway: An unexpected liaison. 61
30798817 2019
32
Hepcidin and Anemia: A Tight Relationship. 61
31649559 2019
33
Regulators of hepcidin expression. 61
30798807 2019
34
Hepcidin Therapeutics. 61
30469435 2018
35
Liver HFE protein content is posttranscriptionally decreased in iron-deficient mice and rats. 61
29927322 2018
36
Metallaaromatic biaryl atropisomers. 61
30209448 2018
37
Functional diversity of TMPRSS6 isoforms and variants expressed in hepatocellular carcinoma cell lines. 61
30135444 2018
38
Rare anemias due to genetic iron metabolism defects. 61
30115430 2018
39
[Iron-refractory iron deficiency anemia in a child]. 61
29886614 2018
40
[Using target next-generation sequencing assay in diagnosing of 46 patients with suspected congenital anemias]. 61
29779353 2018
41
Iron Refractory Iron Deficiency Anaemia: A Rare Cause of Iron Deficiency Anaemia. 61
29869859 2018
42
The interaction of iron and the genome: For better and for worse. 61
29173496 2017
43
A child with severe iron-deficiency anemia and a complex TMPRSS6 genotype. 61
28447549 2017
44
A new form of IRIDA due to combined heterozygous mutations of TMPRSS6 and ACVR1A encoding the BMP receptor ALK2. 61
28476747 2017
45
Two novel mutations in TMPRSS6 associated with iron-refractory iron deficiency anemia in a mother and child. 61
28460265 2017
46
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
47
Systematic evaluation of paediatric cohort with iron refractory iron deficiency anaemia (IRIDA) phenotype reveals multiple TMPRSS6 gene variations. 61
28169443 2017
48
Progress in iron metabolism research. 61
28978826 2017
49
Regulation of the Iron Homeostatic Hormone Hepcidin. 61
28096133 2017
50
Iron refractory iron deficiency anemia: a heterogeneous disease that is not always iron refractory. 61
27643674 2016
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 115) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 subset of 21 genes: AVPR2 , FLNA , GDI1 , L1CAM , MECP2 GRCh37/hg19 Xq28(chrX:153138672-153665655)copy number gain Pathogenic 523295 X:153138672-153665655
2 TMPRSS6 NM_153609.3(TMPRSS6):c.234C>G (p.Tyr78Ter)SNV Pathogenic 617552 rs1569024289 22:37494585-37494585 22:37098545-37098545
3 TMPRSS6 NM_153609.3(TMPRSS6):c.2161C>T (p.Gln721Ter)SNV Pathogenic 627580 rs775869554 22:37462982-37462982 22:37066942-37066942
4 TMPRSS6 NM_153609.3(TMPRSS6):c.2055_2058dup (p.Val687fs)duplication Pathogenic 1409 rs786205060 22:37465194-37465195 22:37069154-37069155
5 TMPRSS6 NM_153609.3(TMPRSS6):c.353C>A (p.Ala118Asp)SNV Pathogenic 1410 rs267607121 22:37494466-37494466 22:37098426-37098426
6 TMPRSS6 NM_153609.3(TMPRSS6):c.1564G>A (p.Glu522Lys)SNV Pathogenic 30802 rs387907018 22:37469590-37469590 22:37073550-37073550
7 TMPRSS6 NM_153609.3(TMPRSS6):c.1904_1905dup (p.Lys636fs)duplication Pathogenic 1399 rs869320724 22:37465347-37465348 22:37069307-37069308
8 TMPRSS6 NM_153609.3(TMPRSS6):c.1813del (p.Ala605fs)deletion Pathogenic 1400 rs767094129 22:37466579-37466579 22:37070539-37070539
9 TMPRSS6 NM_153609.3(TMPRSS6):c.1582+1G>ASNV Pathogenic 1401 rs786205058 22:37469571-37469571 22:37073531-37073531
10 TMPRSS6 NM_153609.3(TMPRSS6):c.2140+1G>CSNV Pathogenic 1402 rs786205059 22:37465112-37465112 22:37069072-37069072
11 TMPRSS6 NM_153609.3(TMPRSS6):c.1324G>A (p.Gly442Arg)SNV Pathogenic 1403 rs137853119 22:37471220-37471220 22:37075180-37075180
12 TMPRSS6 NM_153609.3(TMPRSS6):c.1561G>A (p.Asp521Asn)SNV Pathogenic 1404 rs137853120 22:37469593-37469593 22:37073553-37073553
13 TMPRSS6 NM_153609.3(TMPRSS6):c.1065C>A (p.Tyr355Ter)SNV Pathogenic 1405 rs137853121 22:37480815-37480815 22:37084775-37084775
14 TMPRSS6 NM_153609.3(TMPRSS6):c.1382del (p.Glu461fs)deletion Pathogenic 1406 22:37470736-37470736 22:37074696-37074696
15 TMPRSS6 NM_153609.3(TMPRSS6):c.1179T>G (p.Tyr393Ter)SNV Pathogenic 1407 rs137853122 22:37480379-37480379 22:37084339-37084339
16 TMPRSS6 NM_153609.3(TMPRSS6):c.1795C>T (p.Arg599Ter)SNV Pathogenic/Likely pathogenic 1408 rs137853123 22:37466597-37466597 22:37070557-37070557
17 TMPRSS6 NM_153609.3(TMPRSS6):c.1233C>T (p.Gly411=)SNV Conflicting interpretations of pathogenicity 341588 rs146266448 22:37471311-37471311 22:37075271-37075271
18 TMPRSS6 NM_153609.3(TMPRSS6):c.1000+11deldeletion Uncertain significance 341592 rs780218999 22:37482312-37482312 22:37086272-37086272
19 TMPRSS6 NM_153609.3(TMPRSS6):c.720C>T (p.His240=)SNV Uncertain significance 341596 rs769301726 22:37485761-37485761 22:37089721-37089721
20 TMPRSS6 NM_153609.3(TMPRSS6):c.659-8C>TSNV Uncertain significance 341597 rs375234781 22:37485830-37485830 22:37089790-37089790
21 TMPRSS6 NM_153609.3(TMPRSS6):c.170T>A (p.Phe57Tyr)SNV Uncertain significance 341604 rs745388319 22:37499315-37499315 22:37103275-37103275
22 TMPRSS6 NM_153609.3(TMPRSS6):c.*499C>TSNV Uncertain significance 341572 rs560949530 22:37461621-37461621 22:37065581-37065581
23 TMPRSS6 NM_153609.3(TMPRSS6):c.478G>A (p.Glu160Lys)SNV Uncertain significance 341601 rs752163489 22:37492084-37492084 22:37096044-37096044
24 TMPRSS6 NM_153609.3(TMPRSS6):c.1365G>A (p.Ser455=)SNV Uncertain significance 341587 rs776737568 22:37471179-37471179 22:37075139-37075139
25 TMPRSS6 NM_153609.3(TMPRSS6):c.*303T>GSNV Uncertain significance 341573 rs886057490 22:37461817-37461817 22:37065777-37065777
26 TMPRSS6 NM_153609.3(TMPRSS6):c.1096T>C (p.Cys366Arg)SNV Uncertain significance 341590 rs886057492 22:37480784-37480784 22:37084744-37084744
27 TMPRSS6 NM_153609.3(TMPRSS6):c.909G>A (p.Ala303=)SNV Uncertain significance 341593 rs370192027 22:37482414-37482414 22:37086374-37086374
28 TMPRSS6 NM_153609.3(TMPRSS6):c.438A>G (p.Gly146=)SNV Uncertain significance 341602 rs375681801 22:37492124-37492124 22:37096084-37096084
29 TMPRSS6 NM_153609.3(TMPRSS6):c.154C>T (p.Arg52Cys)SNV Uncertain significance 341605 rs750274321 22:37499331-37499331 22:37103291-37103291
30 TMPRSS6 NM_153609.3(TMPRSS6):c.*140C>TSNV Uncertain significance 341574 rs886057491 22:37461980-37461980 22:37065940-37065940
31 TMPRSS6 NM_153609.3(TMPRSS6):c.*35T>CSNV Uncertain significance 341576 rs199957731 22:37462085-37462085 22:37066045-37066045
32 TMPRSS6 NM_153609.3(TMPRSS6):c.1520C>T (p.Pro507Leu)SNV Uncertain significance 341584 rs138915369 22:37469634-37469634 22:37073594-37073594
33 TMPRSS6 NM_153609.3(TMPRSS6):c.1224-4C>GSNV Uncertain significance 341589 rs529716198 22:37471324-37471324 22:37075284-37075284
34 TMPRSS6 NM_153609.3(TMPRSS6):c.865G>T (p.Val289Leu)SNV Uncertain significance 341594 rs201148397 22:37482458-37482458 22:37086418-37086418
35 TMPRSS6 NM_153609.3(TMPRSS6):c.616+9T>CSNV Uncertain significance 341598 rs377665035 22:37491937-37491937 22:37095897-37095897
36 TMPRSS6 NM_153609.3(TMPRSS6):c.270C>A (p.Gly90=)SNV Uncertain significance 341603 rs147397866 22:37494549-37494549 22:37098509-37098509
37 TMPRSS6 NM_001374504.1(TMPRSS6):c.334A>G (p.Met112Val)SNV Uncertain significance 899548 22:37494458-37494458 22:37098418-37098418
38 TMPRSS6 NM_153609.3(TMPRSS6):c.2085C>G (p.Phe695Leu)SNV Uncertain significance 341581 rs375189210 22:37465168-37465168 22:37069128-37069128
39 TMPRSS6 NM_153609.3(TMPRSS6):c.1789C>T (p.Arg597Trp)SNV Uncertain significance 631894 rs773272073 22:37466603-37466603 22:37070563-37070563
40 TMPRSS6 NM_153609.3(TMPRSS6):c.984_985insGGAGACC (p.Pro329fs)insertion Uncertain significance 631895 rs1569012596 22:37482338-37482339 22:37086298-37086299
41 TMPRSS6 NM_001374504.1(TMPRSS6):c.*251T>ASNV Uncertain significance 903048 22:37461869-37461869 22:37065829-37065829
42 TMPRSS6 NM_001374504.1(TMPRSS6):c.*212T>ASNV Uncertain significance 903049 22:37461908-37461908 22:37065868-37065868
43 TMPRSS6 NM_001374504.1(TMPRSS6):c.*24G>ASNV Uncertain significance 899428 22:37462096-37462096 22:37066056-37066056
44 TMPRSS6 NM_001374504.1(TMPRSS6):c.2374G>A (p.Gly792Ser)SNV Uncertain significance 899429 22:37462155-37462155 22:37066115-37066115
45 TMPRSS6 NM_001374504.1(TMPRSS6):c.2204G>A (p.Arg735His)SNV Uncertain significance 900549 22:37462912-37462912 22:37066872-37066872
46 TMPRSS6 NM_001374504.1(TMPRSS6):c.2099C>T (p.Ala700Val)SNV Uncertain significance 902216 22:37465127-37465127 22:37069087-37069087
47 TMPRSS6 NM_001374504.1(TMPRSS6):c.2014T>C (p.Ser672Pro)SNV Uncertain significance 902218 22:37465212-37465212 22:37069172-37069172
48 TMPRSS6 NM_001374504.1(TMPRSS6):c.2004G>A (p.Pro668=)SNV Uncertain significance 902219 22:37465222-37465222 22:37069182-37069182
49 TMPRSS6 NM_001374504.1(TMPRSS6):c.1999C>T (p.His667Tyr)SNV Uncertain significance 902220 22:37465227-37465227 22:37069187-37069187
50 TMPRSS6 NM_001374504.1(TMPRSS6):c.1851C>T (p.Ser617=)SNV Uncertain significance 902221 22:37465375-37465375 22:37069335-37069335

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

Sources

Expression for Iron-Refractory Iron Deficiency Anemia

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

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 9.43 TMPRSS6 HJV EPO
2 cellular iron ion homeostasis GO:0006879 9.16 TMPRSS6 HJV
3 negative regulation of BMP signaling pathway GO:0030514 8.96 TMPRSS6 HJV
4 iron ion homeostasis GO:0055072 8.62 TMPRSS6 HJV

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
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
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
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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