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ATRAF
MCID: ATR002
MIFTS: 50

Atransferrinemia (ATRAF)

Categories: Blood diseases, Genetic diseases, Immune diseases, Liver diseases, Metabolic diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Atransferrinemia

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MalaCards integrated aliases for Atransferrinemia:

Name: Atransferrinemia 57 12 20 72 36 29 13 54 6 15 39
Familial Hypotransferrinemia 12 20 70
Congenital Atransferrinemia 58 70
Congenital Hypotransferrinemia 58
Hypotransferrinemia, Familial 57
Atraf 72

Characteristics:

Orphanet epidemiological data:

58
congenital atransferrinemia
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood,Infancy;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive


HPO:

31
atransferrinemia:
Inheritance autosomal recessive inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases
Anatomical: Blood diseases Immune diseases Liver diseases
See all MalaCards categories (disease lists)
ICD10: 33
Orphanet: 58  
Inborn errors of metabolism
Rare haematological diseases


External Ids:

Disease Ontology 12 DOID:0050649
OMIM® 57 209300
KEGG 36 H01145
MeSH 44 D008664
NCIt 50 C125693
MESH via Orphanet 45 C538259
ICD10 via Orphanet 33 E88.0
UMLS via Orphanet 71 C0521802 C1859593
Orphanet 58 ORPHA1195
UMLS 70 C0521802 C3887502
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Summaries for Atransferrinemia

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GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1195 Definition Congenital atransferrinemia is a very rare hematologic disease caused by a transferrin (TF) deficiency and characterized by microcytic, hypochromic anemia (manifesting with pallor, fatigue and growth retardation) and iron overload, and that can be fatal if left untreated. Epidemiology The prevalence is unknown. To date, there have been 16 reported cases from 14 families. Clinical description Disease onset usually occurs in infancy or early childhood. Only one reported patient was diagnosed at the age of 20. The presenting manifestations are those of anemia such as fatigue, anorexia, irritability, tachycardia, systolic murmur and pallor. Growth retardation, hepatomegaly and recurrent infections are other frequent manifestations of the disease. In undiagnosed individuals, iron overload can lead to liver cirrhosis, heart failure and arthropathy. Hypothyroidism and splenomegaly have also been reported separately in two isolated cases. Death can occur due to congestive heart failure or pneumonia. Etiology Congenital atransferrinemia is due to mutations in the TF gene (3q21) encoding TF, a blood protein necessary for the proper transport of iron to the liver, spleen, and bone marrow. Without the synthesis of TF, there is a reduction of iron delivery to developing erythroid precursors in bone marrow, which results in reduced hemoglobin synthesis and consequently to anemia and iron storage in peripheral tissues (secondary hemochromatosis). Diagnostic methods Diagnosis is based on laboratory testing indicating anemia as well as a serum TF level of less than 35mg/dl. An enlarged liver, due to hemosiderosis may be noted on clinical examination in some cases. Molecular genetic testing can identify a mutation in the TF gene, confirming the diagnosis. Differential diagnosis Differential diagnoses include other conditions that manifest with hypotransferrinemia such as GRACILE syndrome and nephrotic syndromes (see these terms) and, in adults, those suffering from chronic alcoholism. Antenatal diagnosis Prenatal diagnosis for at-risk pregnancies requires prior identification of the disease-causing mutations in the family. Genetic counseling Congenital atransferrinemia is inherited in an autosomal recessive manner and genetic counseling is available. Management and treatment There is no cure for congenital atransferrinemia. Treatment usually involves monthly phlebotomies followed by infusions of whole plasma or purified apotransferrin which remove excess iron and replenish TF levels, allowing for the proper formation of hemoglobin. Treatment is life-long and regular follow-up is recommended. Prognosis With proper treatment the prognosis is good but due to the small number of patients, long-term complications remain unknown..

MalaCards based summary : Atransferrinemia, also known as familial hypotransferrinemia, is related to rare hereditary hemochromatosis and hemosiderosis. An important gene associated with Atransferrinemia is TF (Transferrin), and among its related pathways/superpathways are Mineral absorption and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. The drug Iron has been mentioned in the context of this disorder. Affiliated tissues include heart, liver and bone marrow, and related phenotypes are anemia and recurrent infections

Disease Ontology : 12 A metal metabolism disorder that is characterized by transferrin deficiency, microcytic anemia, and iron loading, and has material basis in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the structural gene for transferrin on chromosome 3q22.

OMIM® : 57 Atransferrinemia is characterized by microcytic anemia and by iron loading. It can be treated effectively by plasma infusions (summary by Beutler et al., 2000). (209300) (Updated 20-May-2021)

KEGG : 36 Atransferrinemia is a rare autosomal recessive disorder characterized by iron overload and hypochromic anemia. A few case of human atransferrinemia with mutations in the transferrin gene has been reported.

UniProtKB/Swiss-Prot : 72 Atransferrinemia: A rare autosomal recessive disorder characterized by abnormal synthesis of transferrin leading to iron overload and microcytic hypochromic anemia.

Wikipedia : 73 Atransferrinemia, not to be confused with hypotransferrinemia, is an autosomal recessive metabolic... more...

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Related Diseases for Atransferrinemia

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Diseases related to Atransferrinemia via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 47)
# Related Disease Score Top Affiliating Genes
1 rare hereditary hemochromatosis 29.4 TFR2 TF SLC40A1 HJV HFE HAMP
2 hemosiderosis 29.3 TFR2 TF SLC40A1 SLC11A2 HJV HFE
3 hypochromic microcytic anemia 29.0 TMPRSS6 TFRC TF SLC11A2 HJV HAMP
4 microcytic anemia 28.3 TMPRSS6 TFRC TFR2 TF SLC40A1 SLC11A2
5 iron metabolism disease 27.7 TMPRSS6 TFRC TFR2 TF SLC40A1 SLC11A2
6 iron deficiency anemia 27.7 TMPRSS6 TFRC TFR2 TF SLC40A1 SLC11A2
7 hemochromatosis, type 1 27.1 TMPRSS6 TFRC TFR2 TF SLC40A1 SLC39A14
8 deficiency anemia 26.4 TMPRSS6 TFRC TFR2 TF SLC48A1 SLC40A1
9 autosomal recessive disease 10.1
10 nephrotic syndrome 10.1
11 hypospadias 10.1
12 hemochromatosis, type 2a 10.1 HJV HAMP
13 cutaneous porphyria 10.1 HFE HAMP
14 iron-refractory iron deficiency anemia 10.0 TMPRSS6 HJV
15 hemochromatosis, type 5 10.0 TFR2 HJV HFE
16 liver cirrhosis 10.0
17 folic acid deficiency anemia 10.0 TFRC HAMP
18 erythrocytosis, familial, 2 10.0 SLC11A2 HAMP
19 hypoxia 10.0
20 refractory anemia 10.0
21 arthropathy 10.0 HJV HFE HAMP
22 sideroblastic anemia 9.9 TFR2 SLC40A1 HAMP
23 mitochondrial dna depletion syndrome 3 9.9 SLC40A1 HJV
24 hemoglobin h disease 9.9 TFRC TF HAMP
25 anemia, congenital dyserythropoietic, type ia 9.9 TFRC HJV HAMP
26 anemia, hypochromic microcytic, with iron overload 1 9.9
27 congenital dyserythropoietic anemia 9.9 TFRC HFE HAMP
28 inherited metabolic disorder 9.9 TFR2 HJV HFE HAMP
29 mineral metabolism disease 9.8 HFE HAMP
30 hypermanganesemia with dystonia 9.8 SLC40A1 SLC39A14
31 alpha-thalassemia 9.8 TFRC HFE HAMP
32 restless legs syndrome 9.8 TFRC SLC11A2 HAMP
33 siderosis 9.6 TFRC TF SLC40A1 HFE HAMP
34 nutritional deficiency disease 9.5 TMPRSS6 TFRC TF HJV HAMP
35 hemoglobinopathy 9.4 TFRC TFR2 TF HJV HFE HAMP
36 porphyria 9.4 TFRC TFR2 SLC40A1 HJV HFE HAMP
37 hyperferritinemia with or without cataract 9.3 TFR2 TF SLC40A1 SLC11A2 HJV HFE
38 iron overload in africa 9.3 TFR2 TF SLC40A1 HJV HFE HEPH
39 porphyria cutanea tarda 9.2 TFRC TFR2 TF SLC40A1 HJV HFE
40 beta-thalassemia 9.2 TMPRSS6 TFRC TFR2 TF HJV HFE
41 anemia, sideroblastic, 1 9.1 TMPRSS6 TFRC TFR2 SLC40A1 SLC11A2 HJV
42 hemochromatosis, type 3 8.9 TMPRSS6 TFRC TFR2 SLC40A1 SLC11A2 HJV
43 neurodegeneration with brain iron accumulation 8.7 TFRC TFR2 SLC40A1 SLC39A14 SLC11A2 HFE
44 hemochromatosis, type 4 8.7 TMPRSS6 TFRC TFR2 SLC40A1 SLC11A2 HJV
45 metal metabolism disorder 8.2 TMPRSS6 TFRC TFR2 SLC40A1 SLC39A14 SLC11A2
46 aceruloplasminemia 8.2 TMPRSS6 TFRC TFR2 SLC40A1 SLC39A14 SLC11A2
47 hemochromatosis type 2 7.9 TMPRSS6 TFRC TFR2 SLC48A1 SLC40A1 SLC39A14

Graphical network of the top 20 diseases related to Atransferrinemia:



Diseases related to Atransferrinemia
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Symptoms & Phenotypes for Atransferrinemia

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Human phenotypes related to Atransferrinemia:

58 31 (show all 10)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 anemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001903
2 recurrent infections 58 31 frequent (33%) Frequent (79-30%) HP:0002719
3 hypothyroidism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000821
4 arthritis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001369
5 abnormality of the cardiovascular system 58 31 occasional (7.5%) Occasional (29-5%) HP:0001626
6 abnormality of the pancreas 58 31 occasional (7.5%) Occasional (29-5%) HP:0001732
7 congestive heart failure 31 HP:0001635
8 abnormality of the liver 31 HP:0001392
9 hypochromic anemia 31 HP:0001931
10 atransferrinemia 31 HP:0012239

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Cardiovascular:
congestive heart failure
hemosiderosis, heart

Lab:
transferrin absent

Heme:
anemia, hypochromic

Liver:
hemosiderosis

Clinical features from OMIM®:

209300 (Updated 20-May-2021)

MGI Mouse Phenotypes related to Atransferrinemia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.06 HFE HJV SLC11A2 SLC39A14 SLC40A1 TF
2 hematopoietic system MP:0005397 10.02 HEPH HFE HJV SLC11A2 SLC40A1 TF
3 homeostasis/metabolism MP:0005376 10.02 HEPH HFE HJV SLC11A2 SLC39A14 SLC40A1
4 immune system MP:0005387 9.91 HEPH HFE HJV SLC11A2 SLC40A1 TF
5 integument MP:0010771 9.7 HEPH HJV SLC11A2 SLC40A1 TF TFRC
6 liver/biliary system MP:0005370 9.61 HEPH HFE HJV SLC11A2 SLC39A14 SLC40A1
7 nervous system MP:0003631 9.23 HEPH HFE HJV SLC11A2 SLC40A1 TF
Sources

Drugs & Therapeutics for Atransferrinemia

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Drugs for Atransferrinemia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Iron Approved Phase 2, Phase 3 7439-89-6 23925 29936

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Dose Escalating Study to Evaluate Pharmacokinetics, Efficacy and Safety of Apotransferrin in Atransferrinemia Patients Recruiting NCT01797055 Phase 2, Phase 3 Human apotransferrin

Search NIH Clinical Center for Atransferrinemia

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Genetic Tests for Atransferrinemia

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Genetic tests related to Atransferrinemia:

# Genetic test Affiliating Genes
1 Atransferrinemia 29
Sources

Anatomical Context for Atransferrinemia

About this section

MalaCards organs/tissues related to Atransferrinemia:

40
Heart, Liver, Bone Marrow, Spleen, Pancreas, Brain
Sources

Publications for Atransferrinemia

About this section

Articles related to Atransferrinemia:

(show all 46)
# Title Authors PMID Year
1
Studies on familial hypotransferrinemia: unique clinical course and molecular pathology. 61 54 57 6
8317485 1993
2
Molecular characterization of a case of atransferrinemia. 61 57 6
11110675 2000
3
A family of congenital atransferrinemia. 6 57 61
4625559 1972
4
Molecular characterization of a third case of human atransferrinemia. 61 6
15466165 2004
5
[Congenital atransferrinemia in a 11-month-old child]. 6 61
5711079 1968
6
[Atransferrinemia in the nephrotic syndrome with special reference to iron and protein metabolism]. 57 61
5829804 1965
7
[Congenital atransferrinemia in a 7-year-old girl]. 61 57
13906010 1961
8
Variants in TF and HFE explain approximately 40% of genetic variation in serum-transferrin levels. 57
19084217 2009
9
Effects of plasma transfusion on hepcidin production in human congenital hypotransferrinemia. 6
17768112 2007
10
Molecular analysis of the transferrin gene in a patient with hereditary hypotransferrinemia. 6
12111369 2002
11
Biochemical and genetic defects underlying human congenital hypotransferrinemia. 6
11920219 2000
12
Tissue distribution and clearance kinetics of non-transferrin-bound iron in the hypotransferrinemic mouse: a rodent model for hemochromatosis. 57
3472216 1987
13
Transferrin-immune complex disease. 57
139071 1977
14
[Atransferrinemias]. 57
4959651 1966
15
Severe hypochromic microcytic anemia in a patient with congenital atransferrinemia. 61 54
19579082 2009
16
Inherited microcytic anemias. 61
33275715 2020
17
A new case of congenital atransferrinemia with a novel splice site mutation: c.293-63del. 61
32028041 2020
18
Inherited iron overload disorders. 61
32258529 2020
19
Transferrin and transferrin receptors update. 61
29969719 2019
20
A computational model to understand mouse iron physiology and disease. 61
30608934 2019
21
Inherited Disorders of Iron Overload. 61
30420953 2018
22
Known and potential roles of transferrin in iron biology. 61
22294463 2012
23
Non-HFE hepatic iron overload. 61
21901660 2011
24
Molecular analysis of a novel case of congenital atransferrinemia. 61
19696475 2009
25
A new case of human atransferrinemia with a previously undescribed mutation in the transferrin gene. 61
18097132 2007
26
[Genetics of hereditary iron overload]. 61
15506716 2004
27
Quantitative evaluation of expression of iron-metabolism genes in ceruloplasmin-deficient mice. 61
12393173 2002
28
Genetics of iron storage and hemochromatosis. 61
11259339 2001
29
Ironing out disease: inherited disorders of iron homeostasis. 61
11419690 2001
30
Genetic disorders affecting proteins of iron metabolism: clinical implications. 61
10774476 2000
31
[Atransferrinemia]. 61
9645038 1998
32
[Congenital atransferrinemia]. 61
8187613 1994
33
Congenital atransferrinemia. A case report and review of the literature. 61
1862777 1991
34
[Congenital atransferrinemia]. 61
2041190 1991
35
A splicing defect in the mouse transferrin gene leads to congenital atransferrinemia. 61
2752125 1989
36
Hereditary hypotransferrinemia with hemosiderosis, a murine disorder resembling human atransferrinemia. 61
3681112 1987
37
[Iron overload in hereditary atransferrinemia]. 61
3964403 1986
38
[Atransferrinemia secondary to hepatic cirrhosis, hemochromatosis, and nephrotic syndrome]. 61
7187699 1982
39
[Atransferrinemia secondary to hepatic cirrhosis, hemochromatosis, and nephrotic syndrome]. 61
6189152 1982
40
[Congenital atransferrinemia. Review of its clinical presentation]. 61
6760430 1982
41
[Replacement therapy for a patient with congenital atransferrinemia--therapeutic effect of apotansferrin (author's transl)]. 61
7339014 1981
42
Genetic defects of iron transport. 61
782924 1976
43
[A case of atransferrinemia and 35 cases of hypotransferrinemia as determined by radioassay of total iron-binding capacity of the serum (author's transl)]. 61
1240327 1975
44
[Hereditary atransferrinemia]. 61
4215439 1974
45
[Case of congenital atransferrinemia in a family]. 61
5466434 1970
46
[Congenital atransferrinemia]. 61
13906009 1961
Sources

Variations for Atransferrinemia

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ClinVar genetic disease variations for Atransferrinemia:

6 (show top 50) (show all 65)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TF TF, 10-BP DEL AND 9-BP DUP Duplication Pathogenic 12619 GRCh37:
GRCh38:
2 TF NM_001063.4(TF):c.1429G>C (p.Ala477Pro) SNV Pathogenic 12620 rs121918679 GRCh37: 3:133485220-133485220
GRCh38: 3:133766376-133766376
3 TF NM_001063.4(TF):c.229G>A (p.Asp77Asn) SNV Pathogenic 12621 rs121918681 GRCh37: 3:133472451-133472451
GRCh38: 3:133753607-133753607
4 TF NM_001063.4(TF):c.1180G>A (p.Glu394Lys) SNV Pathogenic 12623 rs121918680 GRCh37: 3:133478150-133478150
GRCh38: 3:133759306-133759306
5 TF NM_001063.4(TF):c.1825C>T (p.Arg609Trp) SNV Likely pathogenic 218294 rs773139494 GRCh37: 3:133494414-133494414
GRCh38: 3:133775570-133775570
6 TF NM_001063.4(TF):c.1623-63del Deletion Likely pathogenic 694735 rs8177291 GRCh37: 3:133489289-133489289
GRCh38: 3:133770445-133770445
7 TF NM_001063.4(TF):c.680C>T (p.Ser227Leu) SNV Uncertain significance 899433 GRCh37: 3:133475170-133475170
GRCh38: 3:133756326-133756326
8 TF NM_001063.4(TF):c.790C>G (p.Gln264Glu) SNV Uncertain significance 899434 GRCh37: 3:133475773-133475773
GRCh38: 3:133756929-133756929
9 TF NM_001063.4(TF):c.*361T>C SNV Uncertain significance 899492 GRCh37: 3:133497825-133497825
GRCh38: 3:133778981-133778981
10 TF NM_001063.4(TF):c.-18C>T SNV Uncertain significance 900514 GRCh37: 3:133465267-133465267
GRCh38: 3:133746423-133746423
11 TF NM_001063.4(TF):c.43+8C>A SNV Uncertain significance 735968 rs368521553 GRCh37: 3:133465335-133465335
GRCh38: 3:133746491-133746491
12 TF NM_001063.4(TF):c.828C>T (p.Gly276=) SNV Uncertain significance 900554 GRCh37: 3:133475811-133475811
GRCh38: 3:133756967-133756967
13 TF NM_001063.4(TF):c.1044C>T (p.Gly348=) SNV Uncertain significance 902236 GRCh37: 3:133476786-133476786
GRCh38: 3:133757942-133757942
14 TF NM_001063.4(TF):c.1095G>A (p.Ala365=) SNV Uncertain significance 730768 rs575999145 GRCh37: 3:133478065-133478065
GRCh38: 3:133759221-133759221
15 TF NM_001063.4(TF):c.1198A>G (p.Ile400Val) SNV Uncertain significance 902237 GRCh37: 3:133478168-133478168
GRCh38: 3:133759324-133759324
16 TF NM_001063.4(TF):c.1204-14C>A SNV Uncertain significance 902238 GRCh37: 3:133483012-133483012
GRCh38: 3:133764168-133764168
17 TF NM_001063.4(TF):c.281A>G (p.Asn94Ser) SNV Uncertain significance 903053 GRCh37: 3:133472503-133472503
GRCh38: 3:133753659-133753659
18 TF NM_001063.4(TF):c.311A>G (p.Tyr104Cys) SNV Uncertain significance 903054 GRCh37: 3:133472533-133472533
GRCh38: 3:133753689-133753689
19 TF NM_001063.4(TF):c.502+12G>A SNV Uncertain significance 903055 GRCh37: 3:133473527-133473527
GRCh38: 3:133754683-133754683
20 TF NM_001063.4(TF):c.1352T>C (p.Val451Ala) SNV Uncertain significance 903112 GRCh37: 3:133485143-133485143
GRCh38: 3:133766299-133766299
21 TF NM_001063.4(TF):c.1615G>A (p.Ala539Thr) SNV Uncertain significance 903113 GRCh37: 3:133487001-133487001
GRCh38: 3:133768157-133768157
22 TF NM_001063.4(TF):c.1027C>T (p.Arg343Trp) SNV Uncertain significance 900555 GRCh37: 3:133476769-133476769
GRCh38: 3:133757925-133757925
23 TF NM_001063.4(TF):c.1029G>A (p.Arg343=) SNV Uncertain significance 763909 rs762383370 GRCh37: 3:133476771-133476771
GRCh38: 3:133757927-133757927
24 TF NM_001063.4(TF):c.165T>A (p.Ser55Arg) SNV Uncertain significance 902171 GRCh37: 3:133467377-133467377
GRCh38: 3:133748533-133748533
25 TF NM_001063.4(TF):c.215C>T (p.Ala72Val) SNV Uncertain significance 902172 GRCh37: 3:133467427-133467427
GRCh38: 3:133748583-133748583
26 TF NM_001063.4(TF):c.174T>A (p.Cys58Ter) SNV Uncertain significance 632401 rs1559867036 GRCh37: 3:133467386-133467386
GRCh38: 3:133748542-133748542
27 TF NM_001063.4(TF):c.1687+9A>C SNV Uncertain significance 343447 rs886058014 GRCh37: 3:133489425-133489425
GRCh38: 3:133770581-133770581
28 TF NM_001063.4(TF):c.60C>T (p.Val20=) SNV Uncertain significance 343423 rs756125441 GRCh37: 3:133467272-133467272
GRCh38: 3:133748428-133748428
29 TF NM_001063.4(TF):c.154G>A (p.Asp52Asn) SNV Uncertain significance 343426 rs41298295 GRCh37: 3:133467366-133467366
GRCh38: 3:133748522-133748522
30 TF NM_001063.4(TF):c.585G>A (p.Gly195=) SNV Uncertain significance 343435 rs376851470 GRCh37: 3:133474289-133474289
GRCh38: 3:133755445-133755445
31 TF NM_001063.4(TF):c.1785C>T (p.Asn595=) SNV Uncertain significance 343449 rs757985238 GRCh37: 3:133494374-133494374
GRCh38: 3:133775530-133775530
32 TF NM_001063.4(TF):c.686T>C (p.Ile229Thr) SNV Uncertain significance 343438 rs764361166 GRCh37: 3:133475176-133475176
GRCh38: 3:133756332-133756332
33 TF NM_001063.4(TF):c.119G>A (p.Ser40Asn) SNV Uncertain significance 343424 rs146477698 GRCh37: 3:133467331-133467331
GRCh38: 3:133748487-133748487
34 TF NM_001063.4(TF):c.1107C>T (p.His369=) SNV Uncertain significance 343442 rs112157819 GRCh37: 3:133478077-133478077
GRCh38: 3:133759233-133759233
35 TF NM_001063.4(TF):c.1805C>A (p.Pro602Gln) SNV Uncertain significance 343450 rs41296598 GRCh37: 3:133494394-133494394
GRCh38: 3:133775550-133775550
36 TF NM_001063.4(TF):c.334A>G (p.Thr112Ala) SNV Uncertain significance 343430 rs199624323 GRCh37: 3:133473347-133473347
GRCh38: 3:133754503-133754503
37 TF NM_001354703.2(TF):c.-89-2088G>A SNV Uncertain significance 343419 rs540606355 GRCh37: 3:133465168-133465168
GRCh38: 3:133746324-133746324
38 TF NM_001063.4(TF):c.142G>A (p.Val48Ile) SNV Uncertain significance 343425 rs144636315 GRCh37: 3:133467354-133467354
GRCh38: 3:133748510-133748510
39 TF NM_001063.4(TF):c.*81A>G SNV Uncertain significance 343451 rs886058015 GRCh37: 3:133497545-133497545
GRCh38: 3:133778701-133778701
40 TF NM_001063.4(TF):c.228G>A (p.Ala76=) SNV Uncertain significance 343428 rs140381335 GRCh37: 3:133472450-133472450
GRCh38: 3:133753606-133753606
41 TF NM_001063.4(TF):c.887A>G (p.Asp296Gly) SNV Likely benign 343441 rs8177238 GRCh37: 3:133476629-133476629
GRCh38: 3:133757785-133757785
42 TF NM_001063.4(TF):c.1302C>T (p.Ser434=) SNV Likely benign 343443 rs142542411 GRCh37: 3:133483723-133483723
GRCh38: 3:133764879-133764879
43 TF NM_001063.4(TF):c.1602C>T (p.Tyr534=) SNV Likely benign 343445 rs7845 GRCh37: 3:133486988-133486988
GRCh38: 3:133768144-133768144
44 TF NM_001063.4(TF):c.521C>T (p.Ser174Leu) SNV Likely benign 343433 rs150679929 GRCh37: 3:133474225-133474225
GRCh38: 3:133755381-133755381
45 TF NM_001063.4(TF):c.1688-4C>A SNV Likely benign 343448 rs185023567 GRCh37: 3:133494273-133494273
GRCh38: 3:133775429-133775429
46 TF NM_001354703.2(TF):c.-89-2036G>C SNV Likely benign 343421 rs41298275 GRCh37: 3:133465220-133465220
GRCh38: 3:133746376-133746376
47 TF NM_001063.4(TF):c.333G>A (p.Gln111=) SNV Likely benign 343429 rs150548621 GRCh37: 3:133473346-133473346
GRCh38: 3:133754502-133754502
48 TF NM_001063.4(TF):c.227C>T (p.Ala76Val) SNV Likely benign 902173 GRCh37: 3:133472449-133472449
GRCh38: 3:133753605-133753605
49 TF NM_001063.4(TF):c.993G>A (p.Lys331=) SNV Likely benign 784025 rs140829783 GRCh37: 3:133476735-133476735
GRCh38: 3:133757891-133757891
50 TF NM_001063.4(TF):c.2012G>A (p.Gly671Glu) SNV Likely benign 12616 rs121918677 GRCh37: 3:133496032-133496032
GRCh38: 3:133777188-133777188

UniProtKB/Swiss-Prot genetic disease variations for Atransferrinemia:

72
# Symbol AA change Variation ID SNP ID
1 TF p.Ala477Pro VAR_012997 rs121918679
2 TF p.Asp77Asn VAR_038810 rs121918681

Sources

Expression for Atransferrinemia

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Search GEO for disease gene expression data for Atransferrinemia.
Sources

Pathways for Atransferrinemia

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Pathways related to Atransferrinemia according to KEGG:

36
# Name Kegg Source Accession
1 Mineral absorption hsa04978

Pathways related to Atransferrinemia according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds 65
Show member pathways
 13.01 TFRC TF SLC40A1 SLC39A14 SLC11A2 HEPH
2
Insulin receptor recycling 65
Show member pathways
 12.21 TFRC TF SLC40A1 SLC11A2 HEPH
3
Metal ion SLC transporters 65
Show member pathways
 11.6 SLC40A1 SLC39A14 SLC11A2 HEPH
4
Mineral absorption 36
11.33 TF SLC40A1 SLC11A2 HEPH
5
Ferroptosis 36
11.17 TFRC TF SLC40A1 SLC39A14 SLC11A2
6
Iron metabolism in placenta 1
10.18 TFRC TFR2 TF SLC40A1 SLC11A2 HAMP
7
Hfe effect on hepcidin production 1
10.1 TMPRSS6 HJV HFE HAMP
Sources

GO Terms for Atransferrinemia

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Cellular components related to Atransferrinemia according to GeneCards Suite gene sharing:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.26 TMPRSS6 TFRC TFR2 TF SLC48A1 SLC40A1
2 integral component of membrane GO:0016021 10.13 TMPRSS6 TFRC TFR2 SLC48A1 SLC40A1 SLC39A14
3 extracellular space GO:0005615 10.01 TMPRSS6 TFRC TF HJV HFE HAMP
4 integral component of plasma membrane GO:0005887 9.99 TFRC TFR2 SLC40A1 SLC39A14 SLC11A2 HFE
5 plasma membrane GO:0005886 9.9 TMPRSS6 TFRC TFR2 TF SLC48A1 SLC40A1
6 cytoplasmic vesicle GO:0031410 9.89 TFRC TFR2 TF SLC11A2 HFE
7 perinuclear region of cytoplasm GO:0048471 9.88 TFRC TF SLC11A2 HFE HEPH
8 endosome GO:0005768 9.85 TFRC TF SLC48A1 SLC39A14 SLC11A2
9 early endosome GO:0005769 9.71 TFRC TF SLC11A2 HFE
10 endosome membrane GO:0010008 9.67 TFRC TF SLC48A1 SLC11A2
11 basolateral plasma membrane GO:0016323 9.62 TFRC SLC40A1 SLC39A14 HEPH
12 recycling endosome GO:0055037 9.56 TFRC TF SLC11A2 HFE
13 basal part of cell GO:0045178 9.13 TF SLC11A2 HFE
14 HFE-transferrin receptor complex GO:1990712 9.02 TFRC TFR2 TF HJV HFE

Biological processes related to Atransferrinemia according to GeneCards Suite gene sharing:

(show all 24)
# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.93 TF SLC40A1 SLC39A14 SLC11A2 HFE HEPH
2 acute-phase response GO:0006953 9.67 TFR2 HFE HAMP
3 iron ion transport GO:0006826 9.63 TFRC TFR2 TF SLC39A14 SLC11A2 HEPH
4 liver regeneration GO:0097421 9.62 HFE HAMP
5 transferrin transport GO:0033572 9.62 TFRC TFR2 TF HFE
6 metal ion transport GO:0030001 9.61 SLC39A14 SLC11A2
7 osteoclast differentiation GO:0030316 9.61 TFRC TF
8 iron ion transmembrane transport GO:0034755 9.61 SLC40A1 SLC39A14 SLC11A2
9 iron ion homeostasis GO:0055072 9.61 TMPRSS6 TFR2 TF SLC40A1 SLC11A2 HJV
10 positive regulation of receptor-mediated endocytosis GO:0048260 9.6 TF HFE
11 zinc ion transmembrane transport GO:0071577 9.59 SLC39A14 SLC11A2
12 positive regulation of bone resorption GO:0045780 9.58 TFRC TF
13 copper ion transport GO:0006825 9.58 SLC11A2 HEPH
14 cellular response to iron ion GO:0071281 9.58 TFR2 TF HFE
15 manganese ion transmembrane transport GO:0071421 9.57 SLC39A14 SLC11A2
16 positive regulation of peptide hormone secretion GO:0090277 9.56 TFR2 HFE
17 response to iron ion GO:0010039 9.56 TFR2 SLC11A2 HFE HAMP
18 cadmium ion transmembrane transport GO:0070574 9.55 SLC39A14 SLC11A2
19 divalent inorganic cation transport GO:0072511 9.54 SLC40A1 SLC11A2
20 multicellular organismal iron ion homeostasis GO:0060586 9.54 SLC40A1 SLC11A2 HAMP
21 response to iron ion starvation GO:1990641 9.52 HFE HAMP
22 regulation of iron ion transport GO:0034756 9.51 TF HFE
23 iron assimilation GO:0033212 9.48 SLC39A14 SLC11A2
24 cellular iron ion homeostasis GO:0006879 9.32 TMPRSS6 TFRC TFR2 TF SLC40A1 SLC11A2

Molecular functions related to Atransferrinemia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ferrous iron binding GO:0008198 9.48 TF HEPH
2 zinc ion transmembrane transporter activity GO:0005385 9.46 SLC39A14 SLC11A2
3 metal ion transmembrane transporter activity GO:0046873 9.43 SLC39A14 SLC11A2
4 co-receptor binding GO:0039706 9.4 TFR2 HFE
5 manganese ion transmembrane transporter activity GO:0005384 9.37 SLC39A14 SLC11A2
6 transferrin receptor binding GO:1990459 9.33 TF HJV HFE
7 cadmium ion transmembrane transporter activity GO:0015086 9.32 SLC39A14 SLC11A2
8 transferrin receptor activity GO:0004998 9.26 TFRC TFR2
9 iron ion transmembrane transporter activity GO:0005381 9.13 SLC40A1 SLC39A14 SLC11A2
10 ferrous iron transmembrane transporter activity GO:0015093 8.8 SLC40A1 SLC39A14 SLC11A2
Sources

Sources for Atransferrinemia

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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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 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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