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IRIDA
MCID: IRN004
MIFTS: 42

Iron-Refractory Iron Deficiency Anemia (IRIDA)

Categories: Blood diseases, Genetic diseases, Metabolic diseases, Oral diseases, Rare 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 53 25 59 75 37 13 73
Irida 57 53 25 75
Anemia, Hypochromic Microcytic, with Defect in Iron Metabolism 57 53 25
Iron-Handling Disorder, Hereditary 57 53 25
Pseudo-Iron-Deficiency Anemia 57 53 75
Irida Syndrome 53 25 59
Hypochromic Microcytic Anemia with Defect in Iron Metabolism 75
Anemia, Iron Deficiency, Iron-Refractory 40
Hereditary Iron-Handling Disorder 75

Characteristics:

Orphanet epidemiological data:

59
irida syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
iron-refractory iron deficiency anemia:
Inheritance autosomal recessive inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases
Anatomical: Blood diseases Oral diseases
See all MalaCards categories (disease lists)
ICD10: 34
Orphanet: 59  
Rare haematological diseases


External Ids:

OMIM 57 206200
Orphanet 59 ORPHA209981
ICD10 via Orphanet 34 D50.8
UMLS via Orphanet 74 C0085576
MedGen 42 C0085576
KEGG 37 H01278
UMLS 73 C0085576
Sources

Summaries for Iron-Refractory Iron Deficiency Anemia

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NIH Rare Diseases : 53 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 iron metabolism disease. 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 Iron and Citric Acid have been mentioned in the context of this disorder. Affiliated tissues include skin and testes, 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.

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)

UniProtKB/Swiss-Prot : 75 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.

Sources

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:

# Related Disease Score Top Affiliating Genes
1 microcytic anemia 32.7 EPO TMPRSS6
2 iron metabolism disease 30.9 EPO HJV
3 iron deficiency anemia 30.6 EPO HJV TMPRSS6
4 deficiency anemia 30.6 EPO HJV TMPRSS6
5 renal cell carcinoma, nonpapillary 10.1
6 essential thrombocythemia 10.1
7 hemochromatosis, type 1 9.8 HJV TMPRSS6
8 nutritional deficiency disease 9.8 EPO TMPRSS6

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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Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Iron-Refractory Iron Deficiency Anemia:

59 32 (show all 13)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001249
2 ichthyosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0008064
3 pallor 59 32 hallmark (90%) Very frequent (99-80%) HP:0000980
4 hyperkeratosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000962
5 peripheral neuropathy 59 32 hallmark (90%) Very frequent (99-80%) HP:0009830
6 intrahepatic cholestasis 59 32 frequent (33%) Frequent (79-30%) HP:0001406
7 hypocupremia 59 32 frequent (33%) Frequent (79-30%) HP:0011967
8 abnormality of the intestine 59 Very frequent (99-80%)
9 poikilocytosis 32 HP:0004447
10 anisocytosis 32 HP:0011273
11 hypochromic microcytic anemia 32 HP:0004840
12 elevated hepcidin level 32 HP:0031877
13 abnormal intestine morphology 32 hallmark (90%) HP:0002242

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 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 10)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Iron Approved Phase 2,Not Applicable 7439-89-6 23925
2
Citric Acid Approved, Nutraceutical, Vet_approved Phase 2 77-92-9 311
3 Trace Elements Phase 2,Not Applicable
4 Citrate Phase 2
5 Pharmaceutical Solutions Phase 2
6 Micronutrients Phase 2,Not Applicable
7 Anticoagulants Phase 2
8 Iron Supplement Phase 2,Not Applicable
9 Chelating Agents Phase 2
10 Calcium, Dietary Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Triferic IRIDA Protocol Completed NCT02905981 Phase 2 Fer-In-Sol;Shohl's solution;Triferic
2 The Effect of Genetic Variation in TMPRSS6 Gene (SNP rs855791) on Oral Iron Absorption: an Iron Stable Isotope Study Recruiting NCT03317873 Not Applicable
3 Detection of β Thalassemia Carriers by Red Cell Parameters Obtained From the H2 Automatic Counter Enrolling by invitation NCT00481221

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:

41
Skin, Testes
Sources

Publications for Iron-Refractory Iron Deficiency Anemia

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Articles related to Iron-Refractory Iron Deficiency Anemia:

(show all 30)
# Title Authors Year
1
Iron Refractory Iron Deficiency Anemia Due to 374 Base Pairs Deletion in the TMPRSS6 Gene. ( 30130276 )
2018
2
Two novel mutations in TMPRSS6 associated with iron-refractory iron deficiency anemia in a mother and child. ( 28460265 )
2017
3
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. ( 28491880 )
2017
4
Response to parenteral iron therapy distinguish unexplained refractory iron deficiency anemia from iron-refractory iron deficiency anemia. ( 26818204 )
2016
5
Coexistence of Essential Thrombocythemia, Iron-Refractory Iron Deficiency Anemia and Renal Cell Carcinoma. ( 27103977 )
2016
6
Iron Refractory Iron Deficiency Anemia (IRIDA): A heterogeneous disease that is not always iron refractory. ( 27643674 )
2016
7
Iron-refractory iron deficiency anemia (IRIDA) cases with 2 novel TMPRSS6 mutations. ( 27120435 )
2016
8
Iron-Refractory Iron Deficiency Anemia May Not Lead to Neurocognitive Dysfunction: A Case Report. ( 27365303 )
2016
9
Irida-β-ketoimines Derived from Hydrazines To Afford Metallapyrazoles or N-N Bond Cleavage: A Missing Metallacycle Disclosed by a Theoretical and Experimental Study. ( 27689907 )
2016
10
Functional analysis of matriptase-2 mutations and domains: insights into the molecular basis of iron-refractory iron deficiency anemia. ( 25588876 )
2015
11
Iron-Refractory Iron Deficiency Anemia. ( 25805669 )
2015
12
A (pentafluoroethyl)(trifluoromethyl)carbene complex of iridium and reductive activation of its sp(3)α, β, and γ carbon-fluorine bonds to give perfluoro-2-butyne, perfluoro-1,2,3-butatriene and perfluoro-1-irida-2-methyl-2-cyclobutene) complexes. ( 26158776 )
2015
13
Crystal structures of two unusual, high oxidation state, 16-electron irida-benzenes. ( 26594499 )
2015
14
Functional and clinical impact of novel tmprss6 variants in iron-refractory iron-deficiency anemia patients and genotype-phenotype studies. ( 25156943 )
2014
15
Iron-refractory iron deficiency anemia (IRIDA). ( 25064705 )
2014
16
Novel mutation in the TMPRSS6 gene with iron-refractory iron deficiency anemia. ( 25252070 )
2014
17
Responsiveness to Parenteral Iron Therapy in Children with Oral Iron-Refractory Iron-Deficiency Anemia. ( 24087940 )
2013
18
Administration of recombinant erythropoietin alone does not improve the phenotype in iron refractory iron deficiency anemia patients. ( 23180434 )
2013
19
Iron refractory iron deficiency anemia. ( 23729726 )
2013
20
Iron refractory iron deficiency anemia: presentation with hyperferritinemia and response to oral iron therapy. ( 23319530 )
2013
21
A novel mutation in the CUB sequence of matriptase-2 (TMPRSS6) is implicated in iron-resistant iron deficiency anaemia (IRIDA). ( 23216605 )
2013
22
A novel mutation Gly603Arg of TMPRSS6 in a Korean female with iron- refractory iron deficiency anemia. ( 21618415 )
2012
23
Responsiveness to oral iron and ascorbic acid in a patient with IRIDA. ( 22169218 )
2012
24
Novel missense mutation in the TMPRSS6 gene in a Japanese female with iron-refractory iron deficiency anemia. ( 21643693 )
2011
25
Novel TMPRSS6 mutations associated with iron-refractory iron deficiency anemia (IRIDA). ( 20232450 )
2010
26
Molecular mechanisms of the defective hepcidin inhibition in TMPRSS6 mutations associated with iron-refractory iron deficiency anemia. ( 19357398 )
2009
27
Matriptase-2 mutations in iron-refractory iron deficiency anemia patients provide new insights into protease activation mechanisms. ( 19592582 )
2009
28
Iron-refractory iron deficiency anemia: new molecular mechanisms. ( 19776721 )
2009
29
Iron-refractory iron deficiency anemia. ( 19786206 )
2009
30
Mutations in TMPRSS6 cause iron-refractory iron deficiency anemia (IRIDA). ( 18408718 )
2008
Sources

Variations for Iron-Refractory Iron Deficiency Anemia

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

75 (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
5 TMPRSS6 p.Ile212Thr VAR_064076 rs776877803
6 TMPRSS6 p.Arg271Gln VAR_064077 rs776180387
7 TMPRSS6 p.Ser304Leu VAR_064078
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
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

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

6 (show top 50) (show all 128)
# Gene Variation Type Significance SNP ID Assembly Location
1 TMPRSS6 NM_153609.3(TMPRSS6): c.1904_1905dupGC (p.Lys636Alafs) duplication Pathogenic rs869320724 GRCh38 Chromosome 22, 37069308: 37069309
2 TMPRSS6 NM_153609.3(TMPRSS6): c.1904_1905dupGC (p.Lys636Alafs) duplication Pathogenic rs869320724 GRCh37 Chromosome 22, 37465348: 37465349
3 TMPRSS6 NM_153609.3(TMPRSS6): c.1813delG (p.Ala605Profs) deletion Pathogenic rs786205057 GRCh37 Chromosome 22, 37466579: 37466579
4 TMPRSS6 NM_153609.3(TMPRSS6): c.1813delG (p.Ala605Profs) deletion Pathogenic rs786205057 GRCh38 Chromosome 22, 37070539: 37070539
5 TMPRSS6 NM_153609.3(TMPRSS6): c.1582+1G> A single nucleotide variant Pathogenic rs786205058 GRCh37 Chromosome 22, 37469571: 37469571
6 TMPRSS6 NM_153609.3(TMPRSS6): c.1582+1G> A single nucleotide variant Pathogenic rs786205058 GRCh38 Chromosome 22, 37073531: 37073531
7 TMPRSS6 NM_153609.3(TMPRSS6): c.2140+1G> C single nucleotide variant Pathogenic rs786205059 GRCh37 Chromosome 22, 37465112: 37465112
8 TMPRSS6 NM_153609.3(TMPRSS6): c.2140+1G> C single nucleotide variant Pathogenic rs786205059 GRCh38 Chromosome 22, 37069072: 37069072
9 TMPRSS6 NM_153609.3(TMPRSS6): c.1324G> A (p.Gly442Arg) single nucleotide variant Pathogenic rs137853119 GRCh37 Chromosome 22, 37471220: 37471220
10 TMPRSS6 NM_153609.3(TMPRSS6): c.1324G> A (p.Gly442Arg) single nucleotide variant Pathogenic rs137853119 GRCh38 Chromosome 22, 37075180: 37075180
11 TMPRSS6 NM_153609.3(TMPRSS6): c.1561G> A (p.Asp521Asn) single nucleotide variant Pathogenic rs137853120 GRCh37 Chromosome 22, 37469593: 37469593
12 TMPRSS6 NM_153609.3(TMPRSS6): c.1561G> A (p.Asp521Asn) single nucleotide variant Pathogenic rs137853120 GRCh38 Chromosome 22, 37073553: 37073553
13 TMPRSS6 NM_153609.3(TMPRSS6): c.1065C> A (p.Tyr355Ter) single nucleotide variant Pathogenic rs137853121 GRCh37 Chromosome 22, 37480815: 37480815
14 TMPRSS6 NM_153609.3(TMPRSS6): c.1065C> A (p.Tyr355Ter) single nucleotide variant Pathogenic rs137853121 GRCh38 Chromosome 22, 37084775: 37084775
15 TMPRSS6 TMPRSS6, 1-BP DEL, 1383A deletion Pathogenic
16 TMPRSS6 NM_153609.3(TMPRSS6): c.1179T> G (p.Tyr393Ter) single nucleotide variant Pathogenic rs137853122 GRCh37 Chromosome 22, 37480379: 37480379
17 TMPRSS6 NM_153609.3(TMPRSS6): c.1179T> G (p.Tyr393Ter) single nucleotide variant Pathogenic rs137853122 GRCh38 Chromosome 22, 37084339: 37084339
18 TMPRSS6 NM_153609.3(TMPRSS6): c.1795C> T (p.Arg599Ter) single nucleotide variant Pathogenic rs137853123 GRCh37 Chromosome 22, 37466597: 37466597
19 TMPRSS6 NM_153609.3(TMPRSS6): c.1795C> T (p.Arg599Ter) single nucleotide variant Pathogenic rs137853123 GRCh38 Chromosome 22, 37070557: 37070557
20 TMPRSS6 NM_153609.3(TMPRSS6): c.2055_2058dupCCCC (p.Val687Profs) duplication Pathogenic rs786205060 GRCh37 Chromosome 22, 37465195: 37465198
21 TMPRSS6 NM_153609.3(TMPRSS6): c.2055_2058dupCCCC (p.Val687Profs) duplication Pathogenic rs786205060 GRCh38 Chromosome 22, 37069155: 37069158
22 TMPRSS6 NM_153609.3(TMPRSS6): c.353C> A (p.Ala118Asp) single nucleotide variant Pathogenic rs267607121 GRCh37 Chromosome 22, 37494466: 37494466
23 TMPRSS6 NM_153609.3(TMPRSS6): c.353C> A (p.Ala118Asp) single nucleotide variant Pathogenic rs267607121 GRCh38 Chromosome 22, 37098426: 37098426
24 TMPRSS6 NM_153609.3(TMPRSS6): c.1564G> A (p.Glu522Lys) single nucleotide variant Pathogenic rs387907018 GRCh37 Chromosome 22, 37469590: 37469590
25 TMPRSS6 NM_153609.3(TMPRSS6): c.1564G> A (p.Glu522Lys) single nucleotide variant Pathogenic rs387907018 GRCh38 Chromosome 22, 37073550: 37073550
26 TMPRSS6 NM_153609.3(TMPRSS6): c.1336C> T (p.Arg446Trp) single nucleotide variant Benign/Likely benign rs117576908 GRCh37 Chromosome 22, 37471208: 37471208
27 TMPRSS6 NM_153609.3(TMPRSS6): c.1336C> T (p.Arg446Trp) single nucleotide variant Benign/Likely benign rs117576908 GRCh38 Chromosome 22, 37075168: 37075168
28 TMPRSS6 NM_153609.3(TMPRSS6): c.2217C> T (p.Tyr739=) single nucleotide variant Benign rs2235321 GRCh37 Chromosome 22, 37462926: 37462926
29 TMPRSS6 NM_153609.3(TMPRSS6): c.2217C> T (p.Tyr739=) single nucleotide variant Benign rs2235321 GRCh38 Chromosome 22, 37066886: 37066886
30 TMPRSS6 NM_153609.3(TMPRSS6): c.2207T> C (p.Val736Ala) single nucleotide variant Benign rs855791 GRCh37 Chromosome 22, 37462936: 37462936
31 TMPRSS6 NM_153609.3(TMPRSS6): c.2207T> C (p.Val736Ala) single nucleotide variant Benign rs855791 GRCh38 Chromosome 22, 37066896: 37066896
32 TMPRSS6 NM_153609.3(TMPRSS6): c.1869-6_1869-2delCCCCA deletion Benign rs200434923 GRCh37 Chromosome 22, 37465386: 37465390
33 TMPRSS6 NM_153609.3(TMPRSS6): c.1869-6_1869-2delCCCCA deletion Benign rs200434923 GRCh38 Chromosome 22, 37069346: 37069350
34 TMPRSS6 NM_153609.3(TMPRSS6): c.1563C> T (p.Asp521=) single nucleotide variant Benign rs4820268 GRCh37 Chromosome 22, 37469591: 37469591
35 TMPRSS6 NM_153609.3(TMPRSS6): c.1563C> T (p.Asp521=) single nucleotide variant Benign rs4820268 GRCh38 Chromosome 22, 37073551: 37073551
36 TMPRSS6 NM_153609.3(TMPRSS6): c.1468+10C> T single nucleotide variant Conflicting interpretations of pathogenicity rs79816125 GRCh38 Chromosome 22, 37074600: 37074600
37 TMPRSS6 NM_153609.3(TMPRSS6): c.1468+10C> T single nucleotide variant Conflicting interpretations of pathogenicity rs79816125 GRCh37 Chromosome 22, 37470640: 37470640
38 TMPRSS6 NM_153609.3(TMPRSS6): c.1254C> T (p.Tyr418=) single nucleotide variant Benign/Likely benign rs881144 GRCh38 Chromosome 22, 37075250: 37075250
39 TMPRSS6 NM_153609.3(TMPRSS6): c.1254C> T (p.Tyr418=) single nucleotide variant Benign/Likely benign rs881144 GRCh37 Chromosome 22, 37471290: 37471290
40 TMPRSS6 NM_153609.3(TMPRSS6): c.1083G> A (p.Ser361=) single nucleotide variant Benign rs2111833 GRCh37 Chromosome 22, 37480797: 37480797
41 TMPRSS6 NM_153609.3(TMPRSS6): c.1083G> A (p.Ser361=) single nucleotide variant Benign rs2111833 GRCh38 Chromosome 22, 37084757: 37084757
42 TMPRSS6 NM_153609.3(TMPRSS6): c.757A> G (p.Lys253Glu) single nucleotide variant Benign rs2235324 GRCh37 Chromosome 22, 37485724: 37485724
43 TMPRSS6 NM_153609.3(TMPRSS6): c.757A> G (p.Lys253Glu) single nucleotide variant Benign rs2235324 GRCh38 Chromosome 22, 37089684: 37089684
44 TMPRSS6 NM_153609.3(TMPRSS6): c.99G> A (p.Pro33=) single nucleotide variant Benign/Likely benign rs11704654 GRCh37 Chromosome 22, 37499386: 37499386
45 TMPRSS6 NM_153609.3(TMPRSS6): c.99G> A (p.Pro33=) single nucleotide variant Benign/Likely benign rs11704654 GRCh38 Chromosome 22, 37103346: 37103346
46 TMPRSS6 NM_153609.3(TMPRSS6): c.15C> T (p.Phe5=) single nucleotide variant Conflicting interpretations of pathogenicity rs115270691 GRCh38 Chromosome 22, 37103525: 37103525
47 TMPRSS6 NM_153609.3(TMPRSS6): c.15C> T (p.Phe5=) single nucleotide variant Conflicting interpretations of pathogenicity rs115270691 GRCh37 Chromosome 22, 37499565: 37499565
48 TMPRSS6 NM_153609.3(TMPRSS6): c.*503C> G single nucleotide variant Uncertain significance rs117575523 GRCh38 Chromosome 22, 37065577: 37065577
49 TMPRSS6 NM_153609.3(TMPRSS6): c.*503C> G single nucleotide variant Uncertain significance rs117575523 GRCh37 Chromosome 22, 37461617: 37461617
50 TMPRSS6 NM_153609.3(TMPRSS6): c.*499C> T single nucleotide variant Uncertain significance rs560949530 GRCh38 Chromosome 22, 37065581: 37065581
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.
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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 HJV TMPRSS6
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 EPO HJV TMPRSS6
2 cellular iron ion homeostasis GO:0006879 9.16 HJV TMPRSS6
3 negative regulation of BMP signaling pathway GO:0030514 8.96 HJV TMPRSS6
4 iron ion homeostasis GO:0055072 8.62 HJV TMPRSS6

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 TMPRSS11A TMPRSS6
2 serine-type peptidase activity GO:0008236 8.62 TMPRSS11A TMPRSS6
Sources

Sources for Iron-Refractory Iron Deficiency Anemia

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 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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