ATRAF
MCID: ATR002
MIFTS: 50

Atransferrinemia (ATRAF)

Categories: Blood diseases, Genetic diseases, Immune diseases, Liver diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Atransferrinemia

MalaCards integrated aliases for Atransferrinemia:

Name: Atransferrinemia 56 12 52 73 36 29 13 54 6 15 39
Familial Hypotransferrinemia 12 52 71
Congenital Atransferrinemia 58 71
Congenital Hypotransferrinemia 58
Hypotransferrinemia, Familial 56
Atraf 73

Characteristics:

Orphanet epidemiological data:

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

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
atransferrinemia:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Inborn errors of metabolism
Rare haematological diseases


External Ids:

Disease Ontology 12 DOID:0050649
OMIM 56 209300
KEGG 36 H01145
MeSH 43 D008664
NCIt 49 C125693
MESH via Orphanet 44 C538259
ICD10 via Orphanet 33 E88.0
UMLS via Orphanet 72 C0521802 C1859593
Orphanet 58 ORPHA1195
UMLS 71 C0521802 C3887502

Summaries for Atransferrinemia

NIH Rare Diseases : 52 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. . Visit the Orphanet disease page for more resources.

MalaCards based summary : Atransferrinemia, also known as familial hypotransferrinemia, is related to hypochromic microcytic anemia and anemia, x-linked, with or without neutropenia and/or platelet abnormalities. 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 : 56 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)

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 : 73 Atransferrinemia: A rare autosomal recessive disorder characterized by abnormal synthesis of transferrin leading to iron overload and microcytic hypochromic anemia.

Wikipedia : 74 Atransferrinemia, not to be confused with hypotransferrinemia, is an autosomal recessive metabolic... more...

Related Diseases for Atransferrinemia

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

(show all 47)
# Related Disease Score Top Affiliating Genes
1 hypochromic microcytic anemia 28.7 TMPRSS6 TFRC TFR2 TF SLC11A2 HJV
2 anemia, x-linked, with or without neutropenia and/or platelet abnormalities 28.7 TFRC TFR2 TF SLC11A2 HJV HFE
3 hemosiderosis 28.1 TFRC TFR2 TF SLC40A1 SLC11A2 HJV
4 microcytic anemia 27.6 TMPRSS6 TFRC TFR2 TF SLC40A1 SLC11A2
5 iron metabolism disease 27.0 TMPRSS6 TFRC TFR2 TF SLC40A1 SLC11A2
6 iron deficiency anemia 27.0 TMPRSS6 TFRC TFR2 TF SLC40A1 SLC11A2
7 hemochromatosis, type 1 26.3 TMPRSS6 TFRC TFR2 TF SLC40A1 SLC39A14
8 deficiency anemia 26.1 TMPRSS6 TFRC TFR2 TF SLC40A1 SLC39A14
9 autosomal recessive disease 10.4
10 nephrotic syndrome 10.4
11 liver cirrhosis 10.3
12 rare hereditary hemochromatosis 10.3
13 hypospadias 10.2
14 anemia, hypochromic microcytic, with iron overload 1 10.1
15 hypoxia 10.1
16 refractory anemia 10.1
17 hemochromatosis, type 5 10.0 TFR2 HJV HFE
18 folic acid deficiency anemia 9.9 TFRC HAMP
19 iron-refractory iron deficiency anemia 9.9 TMPRSS6 HJV
20 hemoglobin h disease 9.8 TFRC TF HAMP
21 anemia, congenital dyserythropoietic, type ia 9.8 TFRC HJV HAMP
22 acute porphyria 9.7 HFE HAMP
23 arthropathy 9.7 HJV HFE HAMP
24 congenital hemolytic anemia 9.7 TFRC TF HAMP
25 congenital dyserythropoietic anemia 9.7 TFRC HFE HAMP
26 inherited metabolic disorder 9.7 TFR2 HJV HFE HAMP
27 wilson disease 9.6 TFRC TF SLC11A2 HFE
28 hypermanganesemia with dystonia 9.5 SLC40A1 SLC39A14
29 hemochromatosis, type 2a 9.5 TFR2 SLC40A1 HJV HFE HAMP
30 nutritional deficiency disease 9.2 TMPRSS6 TFRC TF HJV HAMP
31 friedreich ataxia 9.2 TFRC SLC40A1 SLC11A2 HFE HAMP
32 hemoglobinopathy 9.2 TFRC TFR2 TF HJV HFE HAMP
33 sideroblastic anemia 9.1 TFRC TFR2 SLC40A1 HJV HFE HAMP
34 iron overload in africa 9.0 TFR2 TF SLC40A1 HJV HFE HEPH
35 siderosis 9.0 TFRC TFR2 TF SLC40A1 HJV HFE
36 porphyria cutanea tarda 8.9 TFRC TFR2 TF SLC40A1 HJV HFE
37 porphyria 8.9 TFRC TFR2 TF SLC40A1 HJV HFE
38 beta-thalassemia 8.8 TMPRSS6 TFRC TFR2 TF HJV HFE
39 anemia, sideroblastic, 1 8.7 TMPRSS6 TFRC TFR2 SLC40A1 SLC11A2 HJV
40 hyperferritinemia with or without cataract 8.7 TFRC TFR2 TF SLC40A1 SLC11A2 HJV
41 hemochromatosis, type 4 8.5 TMPRSS6 TFR2 SLC40A1 SLC11A2 HJV HFE
42 thalassemia 8.5 TMPRSS6 TFRC TFR2 TF SLC40A1 HJV
43 hemochromatosis, type 3 8.5 TMPRSS6 TFRC TFR2 SLC40A1 SLC11A2 HJV
44 neurodegeneration with brain iron accumulation 7.9 TFRC TFR2 SLC40A1 SLC39A14 SLC11A2 HJV
45 metal metabolism disorder 7.5 TMPRSS6 TFRC TFR2 SLC40A1 SLC39A14 SLC11A2
46 aceruloplasminemia 7.5 TMPRSS6 TFRC TFR2 SLC40A1 SLC39A14 SLC11A2
47 hemochromatosis type 2 7.0 TMPRSS6 TFRC TFR2 SLC48A1 SLC40A1 SLC39A14

Graphical network of the top 20 diseases related to Atransferrinemia:



Diseases related to Atransferrinemia

Symptoms & Phenotypes for Atransferrinemia

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 arthritis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001369
4 hypothyroidism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000821
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:

56
Cardiovascular:
congestive heart failure
hemosiderosis, heart

Lab:
transferrin absent

Heme:
anemia, hypochromic

Liver:
hemosiderosis

Clinical features from OMIM:

209300

MGI Mouse Phenotypes related to Atransferrinemia:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.97 HEPH HFE HJV SLC11A2 SLC40A1 TF
2 homeostasis/metabolism MP:0005376 9.96 HEPH HFE HJV SLC11A2 SLC39A14 SLC40A1
3 immune system MP:0005387 9.81 HEPH HFE HJV SLC11A2 SLC40A1 TF
4 integument MP:0010771 9.43 HEPH HJV SLC11A2 SLC40A1 TFRC TMPRSS6
5 liver/biliary system MP:0005370 9.28 HEPH HFE HJV SLC11A2 SLC39A14 SLC40A1

Drugs & Therapeutics for Atransferrinemia

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Iron Approved, Experimental Phase 2, Phase 3 15438-31-0, 7439-89-6 27284 23925

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

Genetic Tests for Atransferrinemia

Genetic tests related to Atransferrinemia:

# Genetic test Affiliating Genes
1 Atransferrinemia 29

Anatomical Context for Atransferrinemia

MalaCards organs/tissues related to Atransferrinemia:

40
Heart, Liver, Bone Marrow, Bone, Spleen, Testes, Pancreas

Publications for Atransferrinemia

Articles related to Atransferrinemia:

(show all 43)
# Title Authors PMID Year
1
Studies on familial hypotransferrinemia: unique clinical course and molecular pathology. 56 6 54 61
8317485 1993
2
Molecular characterization of a case of atransferrinemia. 61 6 56
11110675 2000
3
A family of congenital atransferrinemia. 6 61 56
4625559 1972
4
Molecular characterization of a third case of human atransferrinemia. 6 61
15466165 2004
5
[Congenital atransferrinemia in a 11-month-old child]. 61 6
5711079 1968
6
[Atransferrinemia in the nephrotic syndrome with special reference to iron and protein metabolism]. 61 56
5829804 1965
7
[Congenital atransferrinemia in a 7-year-old girl]. 61 56
13906010 1961
8
Variants in TF and HFE explain approximately 40% of genetic variation in serum-transferrin levels. 56
19084217 2009
9
Molecular analysis of the transferrin gene in a patient with hereditary hypotransferrinemia. 6
12111369 2002
10
Tissue distribution and clearance kinetics of non-transferrin-bound iron in the hypotransferrinemic mouse: a rodent model for hemochromatosis. 56
3472216 1987
11
Transferrin-immune complex disease. 56
139071 1977
12
[Atransferrinemias]. 56
4959651 1966
13
Severe hypochromic microcytic anemia in a patient with congenital atransferrinemia. 54 61
19579082 2009
14
A new case of congenital atransferrinemia with a novel splice site mutation: c.293-63del. 61
32028041 2020
15
Inherited iron overload disorders. 61
32258529 2020
16
Transferrin and transferrin receptors update. 61
29969719 2019
17
A computational model to understand mouse iron physiology and disease. 61
30608934 2019
18
Inherited Disorders of Iron Overload. 61
30420953 2018
19
Known and potential roles of transferrin in iron biology. 61
22294463 2012
20
Non-HFE hepatic iron overload. 61
21901660 2011
21
Molecular analysis of a novel case of congenital atransferrinemia. 61
19696475 2009
22
A new case of human atransferrinemia with a previously undescribed mutation in the transferrin gene. 61
18097132 2007
23
[Genetics of hereditary iron overload]. 61
15506716 2004
24
Quantitative evaluation of expression of iron-metabolism genes in ceruloplasmin-deficient mice. 61
12393173 2002
25
Genetics of iron storage and hemochromatosis. 61
11259339 2001
26
Ironing out disease: inherited disorders of iron homeostasis. 61
11419690 2001
27
Genetic disorders affecting proteins of iron metabolism: clinical implications. 61
10774476 2000
28
[Atransferrinemia]. 61
9645038 1998
29
[Congenital atransferrinemia]. 61
8187613 1994
30
Congenital atransferrinemia. A case report and review of the literature. 61
1862777 1991
31
[Congenital atransferrinemia]. 61
2041190 1991
32
A splicing defect in the mouse transferrin gene leads to congenital atransferrinemia. 61
2752125 1989
33
Hereditary hypotransferrinemia with hemosiderosis, a murine disorder resembling human atransferrinemia. 61
3681112 1987
34
[Iron overload in hereditary atransferrinemia]. 61
3964403 1986
35
[Atransferrinemia secondary to hepatic cirrhosis, hemochromatosis, and nephrotic syndrome]. 61
7187699 1982
36
[Atransferrinemia secondary to hepatic cirrhosis, hemochromatosis, and nephrotic syndrome]. 61
6189152 1982
37
[Congenital atransferrinemia. Review of its clinical presentation]. 61
6760430 1982
38
[Replacement therapy for a patient with congenital atransferrinemia--therapeutic effect of apotansferrin (author's transl)]. 61
7339014 1981
39
Genetic defects of iron transport. 61
782924 1976
40
[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
41
[Hereditary atransferrinemia]. 61
4215439 1974
42
[Case of congenital atransferrinemia in a family]. 61
5466434 1970
43
[Congenital atransferrinemia]. 61
13906009 1961

Variations for Atransferrinemia

ClinVar genetic disease variations for Atransferrinemia:

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

UniProtKB/Swiss-Prot genetic disease variations for Atransferrinemia:

73
# Symbol AA change Variation ID SNP ID
1 TF p.Ala477Pro VAR_012997 rs121918679
2 TF p.Asp77Asn VAR_038810 rs121918681

Expression for Atransferrinemia

Search GEO for disease gene expression data for Atransferrinemia.

Pathways for Atransferrinemia

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
Show member pathways
13.01 TFRC TF SLC40A1 SLC39A14 SLC11A2 HEPH
2
Show member pathways
12.21 TFRC TF SLC40A1 SLC11A2 HEPH
3
Show member pathways
11.6 SLC40A1 SLC39A14 SLC11A2 HEPH
4 11.32 TF SLC40A1 SLC11A2 HEPH
5 11.17 TFRC TF SLC40A1 SLC39A14 SLC11A2
6 10.18 TFRC TFR2 TF SLC40A1 SLC11A2 HAMP
7 10.1 TMPRSS6 HJV HFE HAMP

GO Terms for Atransferrinemia

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

(show all 16)
# 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 10.16 TMPRSS6 TFRC TFR2 SLC48A1 SLC40A1 SLC39A14
3 plasma membrane GO:0005886 10.1 TMPRSS6 TFRC TFR2 SLC48A1 SLC40A1 SLC39A14
4 extracellular space GO:0005615 10.01 TMPRSS6 TFRC TF HJV HFE HAMP
5 integral component of plasma membrane GO:0005887 9.99 TFRC TFR2 SLC40A1 SLC39A14 SLC11A2 HFE
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 9.86 TFRC TF SLC48A1 SLC11A2
9 cell surface GO:0009986 9.85 TFRC TF SLC11A2 HJV
10 early endosome GO:0005769 9.73 TFRC TF SLC11A2 HFE
11 cell GO:0005623 9.7 TMPRSS6 TFRC TFR2 TF SLC40A1 SLC39A14
12 endosome membrane GO:0010008 9.67 TFRC TF SLC48A1 SLC11A2
13 basolateral plasma membrane GO:0016323 9.62 TFRC SLC40A1 SLC39A14 HEPH
14 recycling endosome GO:0055037 9.56 TFRC TF SLC11A2 HFE
15 basal part of cell GO:0045178 9.33 TF SLC11A2 HFE
16 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 23)
# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.93 TF SLC40A1 SLC39A14 SLC11A2 HFE HEPH
2 transferrin transport GO:0033572 9.71 TFRC TFR2 TF HFE
3 iron ion transport GO:0006826 9.7 TFRC TFR2 TF SLC40A1 SLC39A14 SLC11A2
4 acute-phase response GO:0006953 9.67 TFR2 HFE HAMP
5 response to iron ion GO:0010039 9.67 TFR2 SLC11A2 HFE HAMP
6 multicellular organismal iron ion homeostasis GO:0060586 9.62 SLC40A1 SLC11A2 HFE HAMP
7 negative regulation of BMP signaling pathway GO:0030514 9.61 TMPRSS6 HJV
8 liver regeneration GO:0097421 9.61 HFE HAMP
9 cellular response to iron ion GO:0071281 9.61 TFR2 TF HFE
10 osteoclast differentiation GO:0030316 9.6 TFRC TF
11 metal ion transport GO:0030001 9.59 SLC39A14 SLC11A2
12 positive regulation of receptor-mediated endocytosis GO:0048260 9.58 TF HFE
13 positive regulation of bone resorption GO:0045780 9.58 TFRC TF
14 copper ion transport GO:0006825 9.57 SLC11A2 HEPH
15 manganese ion transmembrane transport GO:0071421 9.56 SLC39A14 SLC11A2
16 iron ion transmembrane transport GO:0034755 9.56 TF SLC40A1 SLC39A14 SLC11A2
17 iron ion homeostasis GO:0055072 9.56 TMPRSS6 TFR2 TF SLC40A1 SLC11A2 HJV
18 positive regulation of peptide hormone secretion GO:0090277 9.55 TFR2 HFE
19 cadmium ion transmembrane transport GO:0070574 9.54 SLC39A14 SLC11A2
20 response to iron ion starvation GO:1990641 9.52 HFE HAMP
21 regulation of iron ion transport GO:0034756 9.51 TF HFE
22 iron assimilation GO:0033212 9.48 SLC39A14 SLC11A2
23 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 9.46 TF HEPH
2 metal ion transmembrane transporter activity GO:0046873 9.43 SLC39A14 SLC11A2
3 co-receptor binding GO:0039706 9.4 TFR2 HFE
4 manganese ion transmembrane transporter activity GO:0005384 9.37 SLC39A14 SLC11A2
5 transferrin receptor binding GO:1990459 9.33 TF HJV HFE
6 cadmium ion transmembrane transporter activity GO:0015086 9.32 SLC39A14 SLC11A2
7 transferrin receptor activity GO:0004998 9.26 TFRC TFR2
8 iron ion transmembrane transporter activity GO:0005381 9.13 SLC40A1 SLC39A14 SLC11A2
9 ferrous iron transmembrane transporter activity GO:0015093 8.8 SLC40A1 SLC39A14 SLC11A2

Sources for Atransferrinemia

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
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