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ATRAF
MCID: ATR002
MIFTS: 52

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 53 75 37 29 13 55 6 15 40
Familial Hypotransferrinemia 12 53 73
Congenital Atransferrinemia 59 73
Congenital Hypotransferrinemia 59
Hypotransferrinemia, Familial 57
Atraf 75

Characteristics:

Orphanet epidemiological data:

59
congenital atransferrinemia
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood,Infancy;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
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: 34
Orphanet: 59  
Inborn errors of metabolism
Rare haematological diseases


External Ids:

OMIM 57 209300
Disease Ontology 12 DOID:0050649
Orphanet 59 ORPHA1195
MESH via Orphanet 45 C538259
UMLS via Orphanet 74 C0521802 C1859593
ICD10 via Orphanet 34 E88.0
MeSH 44 D008664
KEGG 37 H01145
Sources

Summaries for Atransferrinemia

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NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 1195Disease definitionCongenital 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.EpidemiologyThe prevalence is unknown. To date, there have been 16 reported cases from 14 families.Clinical descriptionDisease 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.EtiologyCongenital 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 methodsDiagnosis 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 diagnosisDifferential 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 diagnosisPrenatal diagnosis for at-risk pregnancies requires prior identification of the disease-causing mutations in the family.Genetic counselingCongenital atransferrinemia is inherited in an autosomal recessive manner and genetic counseling is available.Management and treatmentThere 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.PrognosisWith 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 microcytic anemia. 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 liver, heart and bone, and related phenotypes are hypothyroidism and arthritis

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)

UniProtKB/Swiss-Prot : 75 Atransferrinemia: A rare autosomal recessive disorder characterized by abnormal synthesis of transferrin leading to iron overload and microcytic hypochromic anemia.

Wikipedia : 76 Atransferrinemia, also called familial hypotransferrinemia, is an autosomal recessive metabolic disorder... more...

Sources

Related Diseases for Atransferrinemia

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

(show all 49)
# Related Disease Score Top Affiliating Genes
1 hypochromic microcytic anemia 30.2 CP SLC11A2 TF
2 microcytic anemia 30.2 ALAS2 SLC11A2 TF TFRC
3 hemosiderosis 29.7 CP HAMP HFE SLC11A2 SLC40A1 TF
4 iron deficiency anemia 29.6 HAMP HFE HJV SLC11A2 SLC40A1 TF
5 iron metabolism disease 29.5 CP HFE HJV SLC11A2 SLC40A1 TF
6 deficiency anemia 28.3 ALAS2 CP EPOR HAMP HEPH HFE
7 hemochromatosis, type 2a 10.2 HAMP HJV
8 hyperferritinemia with or without cataract 10.2 HFE TF
9 porphyria 10.2 ALAS2 HFE TF
10 thalassemia 10.2 HFE TF TFRC
11 acquired polycythemia 10.1 EPOR TF
12 pili torti 10.1 BCS1L CP
13 hemoglobin h disease 10.1 BCS1L TF TFRC
14 swayback 10.1 CP HFE
15 nutritional deficiency disease 10.1 CP HAMP TF
16 porphyria cutanea tarda 10.1 HAMP HFE TF TFRC
17 beta-thalassemia 10.1 HFE TF TFR2 TFRC
18 wilson disease 10.1 CP HFE TF
19 pyridoxine-responsive sideroblastic anemia 10.1 ALAS2 TET2
20 hfe-associated hereditary hemochromatosis 10.1 HFE HJV SLC11A2 TFR2
21 folic acid deficiency anemia 10.1 TET2 TF TFRC
22 siderosis 10.1 HFE SLC40A1 TF TFRC
23 ancylostomiasis 10.1 CP TF
24 friedreich ataxia 1 10.1 ABCB7 FXN TFRC
25 inherited metabolic disorder 10.1 HAMP HFE HJV TF TFR2
26 atrial standstill 1 10.0 FXN HFE HJV
27 congenital disorder of glycosylation, type ia 10.0 ABCB7 HP TF
28 melancholia 10.0 HP TF
29 sleeping sickness 10.0 ABCB7 HP TF
30 nutmeg liver 10.0 CP HP
31 liver disease 10.0 ABCB7 CP HFE TF
32 hemochromatosis, type 3 10.0 HAMP HFE HJV SLC40A1 TFR2
33 anemia, sideroblastic, and spinocerebellar ataxia 10.0 ABCB7 FXN TET2
34 hemoglobinopathy 10.0 HAMP HFE HP TF
35 protein-energy malnutrition 10.0 CP HP TF
36 polycythemia 10.0 EPOR TET2 TFRC
37 hemochromatosis, type 4 9.9 HAMP HFE HJV SLC40A1 TF TFR2
38 testicular yolk sac tumor 9.9 HP HPX TF
39 blackwater fever 9.9 HP HPX
40 celiac disease 1 9.9 HFE HP TFRC
41 refractory anemia 9.9 ALAS2 TET2
42 anemia, sideroblastic, 1 9.9 ABCB7 ALAS2 HAMP TET2 TFRC
43 chronic pulmonary heart disease 9.9 CP HP
44 hemochromatosis type 2 9.8 ALAS2 HAMP HFE HJV SLC40A1 TF
45 myelodysplastic syndrome 9.8 EPOR HFE TET2 TF TFRC
46 metal metabolism disorder 9.6 CP HAMP HFE HJV SLC11A2 SLC40A1
47 iron overload in africa 9.4 HAMP HEPH HFE HP SLC40A1 TF
48 aceruloplasminemia 9.1 ABCB7 BCS1L CP FXN HAMP HEPH
49 hemochromatosis, type 1 8.7 ABCB7 ALAS2 CP FXN HAMP HEPH

Graphical network of the top 20 diseases related to Atransferrinemia:



Diseases related to Atransferrinemia
Sources

Symptoms & Phenotypes for Atransferrinemia

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Symptoms via clinical synopsis from OMIM:

57
Cardiovascular:
congestive heart failure
hemosiderosis, heart

Lab:
transferrin absent

Heme:
anemia, hypochromic

Liver:
hemosiderosis


Clinical features from OMIM:

209300

Human phenotypes related to Atransferrinemia:

59 32 (show all 10)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypothyroidism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000821
2 arthritis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001369
3 abnormality of the cardiovascular system 59 32 occasional (7.5%) Occasional (29-5%) HP:0001626
4 anemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001903
5 abnormality of the pancreas 59 32 occasional (7.5%) Occasional (29-5%) HP:0001732
6 recurrent infections 59 32 frequent (33%) Frequent (79-30%) HP:0002719
7 congestive heart failure 32 HP:0001635
8 hypochromic anemia 32 HP:0001931
9 abnormality of the liver 32 HP:0001392
10 atransferrinemia 32 HP:0012239

GenomeRNAi Phenotypes related to Atransferrinemia according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00221-A-1 10.07 FXN
2 Decreased viability GR00221-A-4 10.07 PANK2
3 Decreased viability GR00240-S-1 10.07 ABCB7 TFRC
4 Decreased viability GR00301-A 10.07 FXN PANK2
5 Decreased viability GR00381-A-1 10.07 TFR2
6 Decreased viability GR00402-S-2 10.07 ABCB7 ALAS2 BCS1L CP EPOR FXN
7 no effect GR00402-S-1 9.6 ABCB7 ALAS2 BCS1L CP EPOR FXN

MGI Mouse Phenotypes related to Atransferrinemia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.3 ABCB7 ALAS2 BCS1L CP EPOR FXN
2 hematopoietic system MP:0005397 10.28 ALAS2 CP EPOR HEPH HFE HJV
3 cellular MP:0005384 10.23 ABCB7 BCS1L CP EPOR FXN HFE
4 cardiovascular system MP:0005385 10.22 ABCB7 CP EPOR FXN HEPH HJV
5 growth/size/body region MP:0005378 10.21 ABCB7 BCS1L EPOR FXN HFE PANK2
6 immune system MP:0005387 10.17 CP EPOR FXN HEPH HFE HJV
7 liver/biliary system MP:0005370 10.13 ABCB7 BCS1L CP EPOR HEPH HFE
8 mortality/aging MP:0010768 10.03 ABCB7 ALAS2 BCS1L EPOR FXN HFE
9 nervous system MP:0003631 9.65 ABCB7 CP EPOR FXN HEPH HFE
10 renal/urinary system MP:0005367 9.23 BCS1L HJV HP HPX PANK2 SLC11A2
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

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Apotransferrin in Atransferrinemia 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 TF
Sources

Anatomical Context for Atransferrinemia

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MalaCards organs/tissues related to Atransferrinemia:

41
Liver, Heart, Bone, Testes, Spleen, Bone Marrow, Brain
Sources

Publications for Atransferrinemia

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Articles related to Atransferrinemia:

(show all 12)
# Title Authors Year
1
Molecular analysis of a novel case of congenital atransferrinemia. ( 19696475 )
2009
2
Severe hypochromic microcytic anemia in a patient with congenital atransferrinemia. ( 19579082 )
2009
3
A new case of human atransferrinemia with a previously undescribed mutation in the transferrin gene. ( 18097132 )
2007
4
Molecular characterization of a third case of human atransferrinemia. ( 15466165 )
2004
5
Molecular characterization of a case of atransferrinemia. ( 11110675 )
2000
6
[Congenital atransferrinemia]. ( 8187613 )
1994
7
Studies on familial hypotransferrinemia: unique clinical course and molecular pathology. ( 8317485 )
1993
8
Congenital atransferrinemia. A case report and review of the literature. ( 1862777 )
1991
9
A splicing defect in the mouse transferrin gene leads to congenital atransferrinemia. ( 2752125 )
1989
10
Hereditary hypotransferrinemia with hemosiderosis, a murine disorder resembling human atransferrinemia. ( 3681112 )
1987
11
A family of congenital atransferrinemia. ( 4625559 )
1972
12
[Congenital atransferrinemia in a 11-month-old child]. ( 5711079 )
1968
Sources

Variations for Atransferrinemia

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UniProtKB/Swiss-Prot genetic disease variations for Atransferrinemia:

75
# Symbol AA change Variation ID SNP ID
1 TF p.Ala477Pro VAR_012997 rs121918679
2 TF p.Asp77Asn VAR_038810 rs121918681

ClinVar genetic disease variations for Atransferrinemia:

6 (show top 50) (show all 81)
# Gene Variation Type Significance SNP ID Assembly Location
1 TF NM_001063.3(TF): c.956A> G (p.His319Arg) single nucleotide variant Uncertain significance rs41295774 GRCh37 Chromosome 3, 133476698: 133476698
2 TF NM_001063.3(TF): c.956A> G (p.His319Arg) single nucleotide variant Uncertain significance rs41295774 GRCh38 Chromosome 3, 133757854: 133757854
3 TF NM_001063.3(TF): c.1765C> T (p.Pro589Ser) single nucleotide variant Benign rs1049296 GRCh37 Chromosome 3, 133494354: 133494354
4 TF NM_001063.3(TF): c.1765C> T (p.Pro589Ser) single nucleotide variant Benign rs1049296 GRCh38 Chromosome 3, 133775510: 133775510
5 TF TF, 10-BP DEL AND 9-BP DUP duplication Pathogenic
6 TF NM_001063.3(TF): c.1429G> C (p.Ala477Pro) single nucleotide variant Pathogenic rs121918679 GRCh37 Chromosome 3, 133485220: 133485220
7 TF NM_001063.3(TF): c.1429G> C (p.Ala477Pro) single nucleotide variant Pathogenic rs121918679 GRCh38 Chromosome 3, 133766376: 133766376
8 TF NM_001063.3(TF): c.229G> A (p.Asp77Asn) single nucleotide variant Pathogenic rs121918681 GRCh37 Chromosome 3, 133472451: 133472451
9 TF NM_001063.3(TF): c.229G> A (p.Asp77Asn) single nucleotide variant Pathogenic rs121918681 GRCh38 Chromosome 3, 133753607: 133753607
10 TF NM_001063.3(TF): c.829G> A (p.Gly277Ser) single nucleotide variant Likely benign rs1799899 GRCh37 Chromosome 3, 133475812: 133475812
11 TF NM_001063.3(TF): c.829G> A (p.Gly277Ser) single nucleotide variant Likely benign rs1799899 GRCh38 Chromosome 3, 133756968: 133756968
12 TF NM_001063.3(TF): c.1180G> A (p.Glu394Lys) single nucleotide variant Pathogenic rs121918680 GRCh37 Chromosome 3, 133478150: 133478150
13 TF NM_001063.3(TF): c.1180G> A (p.Glu394Lys) single nucleotide variant Pathogenic rs121918680 GRCh38 Chromosome 3, 133759306: 133759306
14 TF NM_001063.3(TF): c.1825C> T (p.Arg609Trp) single nucleotide variant Likely pathogenic rs773139494 GRCh37 Chromosome 3, 133494414: 133494414
15 TF NM_001063.3(TF): c.1825C> T (p.Arg609Trp) single nucleotide variant Likely pathogenic rs773139494 GRCh38 Chromosome 3, 133775570: 133775570
16 TF NM_001063.3(TF): c.-2A> G single nucleotide variant Benign rs1130459 GRCh37 Chromosome 3, 133465283: 133465283
17 TF NM_001063.3(TF): c.-2A> G single nucleotide variant Benign rs1130459 GRCh38 Chromosome 3, 133746439: 133746439
18 TF NM_001063.3(TF): c.60C> T (p.Val20=) single nucleotide variant Uncertain significance rs756125441 GRCh37 Chromosome 3, 133467272: 133467272
19 TF NM_001063.3(TF): c.60C> T (p.Val20=) single nucleotide variant Uncertain significance rs756125441 GRCh38 Chromosome 3, 133748428: 133748428
20 TF NM_001063.3(TF): c.216+14G> C single nucleotide variant Uncertain significance rs114449208 GRCh37 Chromosome 3, 133467442: 133467442
21 TF NM_001063.3(TF): c.216+14G> C single nucleotide variant Uncertain significance rs114449208 GRCh38 Chromosome 3, 133748598: 133748598
22 TF NM_001063.3(TF): c.228G> A (p.Ala76=) single nucleotide variant Uncertain significance rs140381335 GRCh37 Chromosome 3, 133472450: 133472450
23 TF NM_001063.3(TF): c.228G> A (p.Ala76=) single nucleotide variant Uncertain significance rs140381335 GRCh38 Chromosome 3, 133753606: 133753606
24 TF NM_001063.3(TF): c.417G> A (p.Thr139=) single nucleotide variant Uncertain significance rs113868497 GRCh37 Chromosome 3, 133473430: 133473430
25 TF NM_001063.3(TF): c.417G> A (p.Thr139=) single nucleotide variant Uncertain significance rs113868497 GRCh38 Chromosome 3, 133754586: 133754586
26 TF NM_001063.3(TF): c.635+13T> A single nucleotide variant Likely benign rs41298993 GRCh37 Chromosome 3, 133474352: 133474352
27 TF NM_001063.3(TF): c.635+13T> A single nucleotide variant Likely benign rs41298993 GRCh38 Chromosome 3, 133755508: 133755508
28 TF NM_001063.3(TF): c.804T> C (p.His268=) single nucleotide variant Likely benign rs8177232 GRCh37 Chromosome 3, 133475787: 133475787
29 TF NM_001063.3(TF): c.804T> C (p.His268=) single nucleotide variant Likely benign rs8177232 GRCh38 Chromosome 3, 133756943: 133756943
30 TF NM_001063.3(TF): c.1687+9A> C single nucleotide variant Uncertain significance rs886058014 GRCh38 Chromosome 3, 133770581: 133770581
31 TF NM_001063.3(TF): c.1687+9A> C single nucleotide variant Uncertain significance rs886058014 GRCh37 Chromosome 3, 133489425: 133489425
32 TF NM_001063.3(TF): c.*81A> G single nucleotide variant Uncertain significance rs886058015 GRCh38 Chromosome 3, 133778701: 133778701
33 TF NM_001063.3(TF): c.*81A> G single nucleotide variant Uncertain significance rs886058015 GRCh37 Chromosome 3, 133497545: 133497545
34 TF NM_001063.3(TF): c.-117G> A single nucleotide variant Uncertain significance rs540606355 GRCh38 Chromosome 3, 133746324: 133746324
35 TF NM_001063.3(TF): c.-117G> A single nucleotide variant Uncertain significance rs540606355 GRCh37 Chromosome 3, 133465168: 133465168
36 TF NM_001063.3(TF): c.-84G> T single nucleotide variant Likely benign rs8177186 GRCh38 Chromosome 3, 133746357: 133746357
37 TF NM_001063.3(TF): c.-84G> T single nucleotide variant Likely benign rs8177186 GRCh37 Chromosome 3, 133465201: 133465201
38 TF NM_001063.3(TF): c.582A> G (p.Pro194=) single nucleotide variant Likely benign rs8177226 GRCh37 Chromosome 3, 133474286: 133474286
39 TF NM_001063.3(TF): c.582A> G (p.Pro194=) single nucleotide variant Likely benign rs8177226 GRCh38 Chromosome 3, 133755442: 133755442
40 TF NM_001063.3(TF): c.624G> A (p.Ser208=) single nucleotide variant Benign rs12769 GRCh37 Chromosome 3, 133474328: 133474328
41 TF NM_001063.3(TF): c.624G> A (p.Ser208=) single nucleotide variant Benign rs12769 GRCh38 Chromosome 3, 133755484: 133755484
42 TF NM_001063.3(TF): c.1688-4C> A single nucleotide variant Uncertain significance rs185023567 GRCh38 Chromosome 3, 133775429: 133775429
43 TF NM_001063.3(TF): c.1688-4C> A single nucleotide variant Uncertain significance rs185023567 GRCh37 Chromosome 3, 133494273: 133494273
44 TF NM_001063.3(TF): c.-65G> C single nucleotide variant Uncertain significance rs41298275 GRCh38 Chromosome 3, 133746376: 133746376
45 TF NM_001063.3(TF): c.-65G> C single nucleotide variant Uncertain significance rs41298275 GRCh37 Chromosome 3, 133465220: 133465220
46 TF NM_001063.3(TF): c.334A> G (p.Thr112Ala) single nucleotide variant Uncertain significance rs199624323 GRCh37 Chromosome 3, 133473347: 133473347
47 TF NM_001063.3(TF): c.334A> G (p.Thr112Ala) single nucleotide variant Uncertain significance rs199624323 GRCh38 Chromosome 3, 133754503: 133754503
48 TF NM_001063.3(TF): c.432C> T (p.Ser144=) single nucleotide variant Likely benign rs41298987 GRCh37 Chromosome 3, 133473445: 133473445
49 TF NM_001063.3(TF): c.432C> T (p.Ser144=) single nucleotide variant Likely benign rs41298987 GRCh38 Chromosome 3, 133754601: 133754601
50 TF NM_001063.3(TF): c.521C> T (p.Ser174Leu) single nucleotide variant Uncertain significance rs150679929 GRCh37 Chromosome 3, 133474225: 133474225
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:

37
# 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 66
Show member pathways
 13.13 ABCB7 CP HEPH SLC11A2 SLC40A1 TF
2
Insulin receptor recycling 66
Show member pathways
 12.18 CP HEPH SLC11A2 SLC40A1 TF TFRC
3
Porphyrin and chlorophyll metabolism 37
Show member pathways
 12.09 ALAS2 CP FXN HEPH
4
Metal ion SLC transporters 66
Show member pathways
 11.65 CP HEPH SLC11A2 SLC40A1
5
HIF-1-alpha transcription factor network 1
11.39 CP TF TFRC
6
Mineral absorption 37
11.33 HEPH SLC11A2 SLC40A1 TF
7
Ferroptosis 37
10.96 CP SLC11A2 SLC40A1 TF TFRC
8
Hfe effect on hepcidin production 1
10.18 HAMP HFE HJV
9
Iron metabolism in placenta 1
10.18 HAMP SLC11A2 SLC40A1 TF TFR2 TFRC
Sources

GO Terms for Atransferrinemia

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

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.97 CP HAMP HEPH HFE HJV HP
2 cytoplasmic vesicle GO:0031410 9.85 HFE SLC11A2 TF TFR2 TFRC
3 perinuclear region of cytoplasm GO:0048471 9.83 HEPH HFE SLC11A2 TF TFRC
4 early endosome GO:0005769 9.67 HFE SLC11A2 TF TFRC
5 recycling endosome GO:0055037 9.56 HFE SLC11A2 TF TFRC
6 endocytic vesicle lumen GO:0071682 9.4 HP HPX
7 blood microparticle GO:0072562 9.35 CP HP HPX TF TFRC
8 basal part of cell GO:0045178 9.33 HFE SLC11A2 TF
9 HFE-transferrin receptor complex GO:1990712 9.02 HFE HJV TF TFR2 TFRC

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

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 receptor-mediated endocytosis GO:0006898 9.86 HP HPX TFR2 TFRC
2 cellular iron ion homeostasis GO:0006879 9.8 ABCB7 ALAS2 CP FXN HAMP HEPH
3 acute-phase response GO:0006953 9.71 HAMP HFE HP TFR2
4 heme biosynthetic process GO:0006783 9.67 ALAS2 FXN SLC11A2
5 transferrin transport GO:0033572 9.67 HFE TF TFR2 TFRC
6 response to iron ion GO:0010039 9.65 FXN HAMP HFE SLC11A2 TFR2
7 copper ion transport GO:0006825 9.63 CP HEPH SLC11A2
8 multicellular organismal iron ion homeostasis GO:0060586 9.62 HAMP HFE SLC11A2 SLC40A1
9 cellular response to iron ion GO:0071281 9.61 HFE TF TFR2
10 positive regulation of receptor-mediated endocytosis GO:0048260 9.59 HFE TF
11 protein autoprocessing GO:0016540 9.58 FXN HJV
12 positive regulation of peptide hormone secretion GO:0090277 9.58 HFE TFR2
13 heme transport GO:0015886 9.57 ABCB7 HPX
14 porphyrin-containing compound metabolic process GO:0006778 9.55 ALAS2 SLC11A2
15 iron ion transport GO:0006826 9.55 HEPH SLC11A2 SLC40A1 TF TFR2
16 iron ion import GO:0097286 9.54 TFR2 TFRC
17 regulation of iron ion import GO:1900390 9.52 HFE TF
18 response to iron ion starvation GO:1990641 9.51 HAMP HFE
19 iron ion homeostasis GO:0055072 9.23 FXN HEPH HFE HJV SLC11A2 SLC40A1
20 ion transport GO:0006811 10.02 CP FXN HEPH HFE SLC11A2 SLC40A1

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 copper ion binding GO:0005507 9.65 CP HEPH SLC11A2
2 co-receptor binding GO:0039706 9.52 HFE TFR2
3 ferric iron binding GO:0008199 9.51 FXN TF
4 heme transporter activity GO:0015232 9.49 ABCB7 HPX
5 iron ion transmembrane transporter activity GO:0005381 9.46 SLC11A2 SLC40A1
6 ferrous iron transmembrane transporter activity GO:0015093 9.43 SLC11A2 SLC40A1
7 oxidoreductase activity, oxidizing metal ions GO:0016722 9.4 CP HEPH
8 iron chaperone activity GO:0034986 9.37 FXN TF
9 ferroxidase activity GO:0004322 9.33 CP FXN HEPH
10 transferrin receptor activity GO:0004998 9.32 TFR2 TFRC
11 transferrin transmembrane transporter activity GO:0033570 9.26 TFR2 TFRC
12 transferrin receptor binding GO:1990459 9.13 HFE HJV TF
13 ferrous iron binding GO:0008198 8.92 FXN HEPH TET2 TF
Sources

Sources for Atransferrinemia

About this section
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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