Home
User Guide
What's in a MalaCard Search Guide Our Sources
Analysis Tools
GeneCards GeneAnalytics GeneAlaCart PathCards VarElect TGex
News and Views Disease Lists/Categories
About
About MalaCards Our Publications Weizmann Institute LifeMap Discovery® Terms of Use MalaCards Team
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
Sources

Aliases & Classifications for Atransferrinemia

About this section

MalaCards integrated aliases for Atransferrinemia:

Name: Atransferrinemia 58 12 54 76 38 30 13 56 6 15 41
Familial Hypotransferrinemia 12 54 74
Congenital Atransferrinemia 60 74
Congenital Hypotransferrinemia 60
Hypotransferrinemia, Familial 58
Atraf 76

Characteristics:

Orphanet epidemiological data:

60
congenital atransferrinemia
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood,Infancy;

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
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: 35
Orphanet: 60  
Inborn errors of metabolism
Rare haematological diseases


External Ids:

Disease Ontology 12 DOID:0050649
OMIM 58 209300
KEGG 38 H01145
MeSH 45 D008664
MESH via Orphanet 46 C538259
ICD10 via Orphanet 35 E88.0
UMLS via Orphanet 75 C0521802 C1859593
Orphanet 60 ORPHA1195
Sources

Summaries for Atransferrinemia

About this section
NIH Rare Diseases : 54 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 anemia and recurrent infections

OMIM : 58 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 : 76 Atransferrinemia: A rare autosomal recessive disorder characterized by abnormal synthesis of transferrin leading to iron overload and microcytic hypochromic anemia.

Wikipedia : 77 Atransferrinemia, also called familial hypotransferrinemia, is an autosomal recessive metabolic disorder... more...

Sources

Related Diseases for Atransferrinemia

About this section

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 30.4 CP SLC11A2 TF
2 microcytic anemia 30.1 ALAS2 SLC11A2 TF TFRC
3 hemosiderosis 29.4 CP HAMP HFE SLC11A2 SLC40A1 TF
4 iron deficiency anemia 29.2 HAMP HFE HJV SLC11A2 SLC40A1 TF
5 iron metabolism disease 29.1 CP HFE HJV SLC11A2 SLC40A1 TF
6 deficiency anemia 27.0 ALAS2 CP EPOR HAMP HEPH HFE
7 hemochromatosis, type 2a 10.3 HAMP HJV
8 hyperferritinemia with or without cataract 10.3 HFE TF
9 folic acid deficiency anemia 10.3 TF TFRC
10 ancylostomiasis 10.2 CP TF
11 thalassemia 10.2 HFE TF TFRC
12 pili torti 10.2 BCS1L CP
13 porphyria 10.2 ALAS2 HFE TF
14 nutritional deficiency disease 10.2 CP HAMP TF
15 hypospadias 10.2
16 hypoxia 10.2
17 wilson disease 10.2 CP HFE TF
18 acquired polycythemia 10.2 EPOR TF
19 angiomatous meningioma 10.2 TF TFRC
20 hemoglobin h disease 10.1 BCS1L TF TFRC
21 porphyria cutanea tarda 10.1 HAMP HFE TF TFRC
22 beta-thalassemia 10.1 HFE TF TFR2 TFRC
23 acute porphyria 10.1 ALAS2 HFE
24 anemia, sideroblastic, 1 10.0 ABCB7 ALAS2 HAMP TFRC
25 liver disease 10.0 ABCB7 CP HFE TF
26 inherited metabolic disorder 10.0 HAMP HFE HJV TF TFR2
27 chronic inflammatory demyelinating polyneuropathy 10.0 HP TF
28 anemia, sideroblastic, and spinocerebellar ataxia 10.0 ABCB7 FXN
29 siderosis 10.0 HFE SLC40A1 TF TFRC
30 eales disease 10.0 CP TF
31 nutmeg liver 10.0 CP HP
32 friedreich ataxia 1 10.0 ABCB7 FXN TFRC
33 melancholia 10.0 HP TF
34 atrial standstill 1 10.0 FXN HFE HJV
35 congenital disorder of glycosylation, type ia 9.9 ABCB7 HP TF
36 sleeping sickness 9.9 ABCB7 HP TF
37 protein-energy malnutrition 9.9 CP HP TF
38 hemochromatosis, type 3 9.9 HAMP HFE HJV SLC40A1 TFR2
39 chronic pulmonary heart disease 9.8 CP HP
40 myelodysplastic syndrome 9.8 EPOR HFE TF TFRC
41 hemoglobinopathy 9.8 HAMP HFE HP TF
42 hemochromatosis, type 4 9.8 HAMP HFE HJV SLC40A1 TF TFR2
43 hemochromatosis type 2 9.6 ALAS2 HAMP HFE HJV SLC40A1 TF
44 metal metabolism disorder 9.2 CP HAMP HFE HJV SLC11A2 SLC40A1
45 iron overload in africa 9.0 HAMP HEPH HFE HP SLC40A1 TF
46 aceruloplasminemia 8.6 ABCB7 BCS1L CP FXN HAMP HEPH
47 hemochromatosis, type 1 7.7 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

About this section

Human phenotypes related to Atransferrinemia:

60 33 (show all 10)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 anemia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001903
2 recurrent infections 60 33 frequent (33%) Frequent (79-30%) HP:0002719
3 hypothyroidism 60 33 occasional (7.5%) Occasional (29-5%) HP:0000821
4 arthritis 60 33 occasional (7.5%) Occasional (29-5%) HP:0001369
5 abnormality of the cardiovascular system 60 33 occasional (7.5%) Occasional (29-5%) HP:0001626
6 abnormality of the pancreas 60 33 occasional (7.5%) Occasional (29-5%) HP:0001732
7 congestive heart failure 33 HP:0001635
8 hypochromic anemia 33 HP:0001931
9 abnormality of the liver 33 HP:0001392
10 atransferrinemia 33 HP:0012239

Symptoms via clinical synopsis from OMIM:

58
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:

47 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.27 ABCB7 ALAS2 BCS1L CP EPOR FXN
2 cellular MP:0005384 10.22 ABCB7 BCS1L CP EPOR FXN HFE
3 hematopoietic system MP:0005397 10.22 ALAS2 CP EPOR HEPH HFE HJV
4 cardiovascular system MP:0005385 10.19 ABCB7 CP EPOR FXN HEPH HJV
5 growth/size/body region MP:0005378 10.17 ABCB7 BCS1L EPOR FXN HFE PANK2
6 immune system MP:0005387 10.1 CP EPOR FXN HEPH HFE HJV
7 liver/biliary system MP:0005370 10.07 ABCB7 BCS1L CP EPOR HEPH HFE
8 embryo MP:0005380 10 ABCB7 ALAS2 EPOR FXN HEPH SLC40A1
9 mortality/aging MP:0010768 9.97 ABCB7 ALAS2 BCS1L EPOR FXN HFE
10 nervous system MP:0003631 9.65 ABCB7 CP EPOR FXN HEPH HFE
11 renal/urinary system MP:0005367 9.1 BCS1L HJV HP PANK2 SLC11A2 SLC40A1
Sources

Drugs & Therapeutics for Atransferrinemia

About this section

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 7439-89-6, 15438-31-0 27284 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

Sources

Genetic Tests for Atransferrinemia

About this section

Genetic tests related to Atransferrinemia:

# Genetic test Affiliating Genes
1 Atransferrinemia 30
Sources

Anatomical Context for Atransferrinemia

About this section

MalaCards organs/tissues related to Atransferrinemia:

42
Liver, Heart, Bone, Testes, Spleen, Bone Marrow, Pancreas
Sources

Publications for Atransferrinemia

About this section

Articles related to Atransferrinemia:

(show all 13)
# Title Authors Year
1
Severe hypochromic microcytic anemia in a patient with congenital atransferrinemia. ( 19579082 )
2009
2
Molecular analysis of a novel case of congenital atransferrinemia. ( 19696475 )
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 analysis of the transferrin gene in a patient with hereditary hypotransferrinemia. ( 12111369 )
2002
6
Molecular characterization of a case of atransferrinemia. ( 11110675 )
2000
7
[Congenital atransferrinemia]. ( 8187613 )
1994
8
Studies on familial hypotransferrinemia: unique clinical course and molecular pathology. ( 8317485 )
1993
9
Congenital atransferrinemia. A case report and review of the literature. ( 1862777 )
1991
10
A splicing defect in the mouse transferrin gene leads to congenital atransferrinemia. ( 2752125 )
1989
11
Hereditary hypotransferrinemia with hemosiderosis, a murine disorder resembling human atransferrinemia. ( 3681112 )
1987
12
A family of congenital atransferrinemia. ( 4625559 )
1972
13
[Congenital atransferrinemia in a 11-month-old child]. ( 5711079 )
1968
Sources

Variations for Atransferrinemia

About this section

UniProtKB/Swiss-Prot genetic disease variations for Atransferrinemia:

76
# 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.1765C> T (p.Pro589Ser) single nucleotide variant Benign rs1049296 GRCh38 Chromosome 3, 133775510: 133775510
2 TF TF, 10-BP DEL AND 9-BP DUP duplication Pathogenic
3 TF NM_001063.3(TF): c.1429G> C (p.Ala477Pro) single nucleotide variant Pathogenic rs121918679 GRCh37 Chromosome 3, 133485220: 133485220
4 TF NM_001063.3(TF): c.1429G> C (p.Ala477Pro) single nucleotide variant Pathogenic rs121918679 GRCh38 Chromosome 3, 133766376: 133766376
5 TF NM_001063.3(TF): c.229G> A (p.Asp77Asn) single nucleotide variant Pathogenic rs121918681 GRCh37 Chromosome 3, 133472451: 133472451
6 TF NM_001063.3(TF): c.956A> G (p.His319Arg) single nucleotide variant Uncertain significance rs41295774 GRCh37 Chromosome 3, 133476698: 133476698
7 TF NM_001063.3(TF): c.956A> G (p.His319Arg) single nucleotide variant Uncertain significance rs41295774 GRCh38 Chromosome 3, 133757854: 133757854
8 TF NM_001063.3(TF): c.1765C> T (p.Pro589Ser) single nucleotide variant Benign rs1049296 GRCh37 Chromosome 3, 133494354: 133494354
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 GRCh38 Chromosome 3, 133746439: 133746439
17 TF NM_001063.3(TF): c.-2A> G single nucleotide variant Benign rs1130459 GRCh37 Chromosome 3, 133465283: 133465283
18 TF NM_001063.3(TF): c.60C> T (p.Val20=) single nucleotide variant Uncertain significance rs756125441 GRCh38 Chromosome 3, 133748428: 133748428
19 TF NM_001063.3(TF): c.60C> T (p.Val20=) single nucleotide variant Uncertain significance rs756125441 GRCh37 Chromosome 3, 133467272: 133467272
20 TF NM_001063.3(TF): c.216+14G> C single nucleotide variant Uncertain significance rs114449208 GRCh38 Chromosome 3, 133748598: 133748598
21 TF NM_001063.3(TF): c.216+14G> C single nucleotide variant Uncertain significance rs114449208 GRCh37 Chromosome 3, 133467442: 133467442
22 TF NM_001063.3(TF): c.228G> A (p.Ala76=) single nucleotide variant Uncertain significance rs140381335 GRCh38 Chromosome 3, 133753606: 133753606
23 TF NM_001063.3(TF): c.228G> A (p.Ala76=) single nucleotide variant Uncertain significance rs140381335 GRCh37 Chromosome 3, 133472450: 133472450
24 TF NM_001063.3(TF): c.417G> A (p.Thr139=) single nucleotide variant Uncertain significance rs113868497 GRCh38 Chromosome 3, 133754586: 133754586
25 TF NM_001063.3(TF): c.417G> A (p.Thr139=) single nucleotide variant Uncertain significance rs113868497 GRCh37 Chromosome 3, 133473430: 133473430
26 TF NM_001063.3(TF): c.635+13T> A single nucleotide variant Likely benign rs41298993 GRCh38 Chromosome 3, 133755508: 133755508
27 TF NM_001063.3(TF): c.635+13T> A single nucleotide variant Likely benign rs41298993 GRCh37 Chromosome 3, 133474352: 133474352
28 TF NM_001063.3(TF): c.804T> C (p.His268=) single nucleotide variant Likely benign rs8177232 GRCh38 Chromosome 3, 133756943: 133756943
29 TF NM_001063.3(TF): c.804T> C (p.His268=) single nucleotide variant Likely benign rs8177232 GRCh37 Chromosome 3, 133475787: 133475787
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 GRCh38 Chromosome 3, 133755442: 133755442
39 TF NM_001063.3(TF): c.582A> G (p.Pro194=) single nucleotide variant Likely benign rs8177226 GRCh37 Chromosome 3, 133474286: 133474286
40 TF NM_001063.3(TF): c.624G> A (p.Ser208=) single nucleotide variant Benign rs12769 GRCh38 Chromosome 3, 133755484: 133755484
41 TF NM_001063.3(TF): c.624G> A (p.Ser208=) single nucleotide variant Benign rs12769 GRCh37 Chromosome 3, 133474328: 133474328
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 GRCh38 Chromosome 3, 133754503: 133754503
47 TF NM_001063.3(TF): c.334A> G (p.Thr112Ala) single nucleotide variant Uncertain significance rs199624323 GRCh37 Chromosome 3, 133473347: 133473347
48 TF NM_001063.3(TF): c.432C> T (p.Ser144=) single nucleotide variant Likely benign rs41298987 GRCh38 Chromosome 3, 133754601: 133754601
49 TF NM_001063.3(TF): c.432C> T (p.Ser144=) single nucleotide variant Likely benign rs41298987 GRCh37 Chromosome 3, 133473445: 133473445
50 TF NM_001063.3(TF): c.521C> T (p.Ser174Leu) single nucleotide variant Uncertain significance rs150679929 GRCh38 Chromosome 3, 133755381: 133755381
Sources

Expression for Atransferrinemia

About this section
Search GEO for disease gene expression data for Atransferrinemia.
Sources

Pathways for Atransferrinemia

About this section

Pathways related to Atransferrinemia according to KEGG:

38
# 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 67
Show member pathways
 13.13 ABCB7 CP HEPH SLC11A2 SLC40A1 TF
2
Insulin receptor recycling 67
Show member pathways
 12.18 CP HEPH SLC11A2 SLC40A1 TF TFRC
3
Porphyrin and chlorophyll metabolism 38
Show member pathways
 12.09 ALAS2 CP FXN HEPH
4
Metal ion SLC transporters 67
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 38
11.33 HEPH SLC11A2 SLC40A1 TF
7
Ferroptosis 38
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

About this section

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

# Name GO ID Score Top Affiliating Genes
1 integral component of plasma membrane GO:0005887 9.93 EPOR HFE SLC11A2 SLC40A1 TFR2 TFRC
2 extracellular space GO:0005615 9.87 CP HAMP HFE HJV HP TF
3 cytoplasmic vesicle GO:0031410 9.83 HFE SLC11A2 TF TFR2 TFRC
4 perinuclear region of cytoplasm GO:0048471 9.8 HEPH HFE SLC11A2 TF TFRC
5 early endosome GO:0005769 9.67 HFE SLC11A2 TF TFRC
6 blood microparticle GO:0072562 9.56 CP HP TF TFRC
7 recycling endosome GO:0055037 9.46 HFE SLC11A2 TF TFRC
8 basal part of cell GO:0045178 9.13 HFE SLC11A2 TF
9 HFE-transferrin receptor complex GO:1990712 9.02 HFE HJV TF TFR2 TFRC
10 integral component of membrane GO:0016021 10.22 ABCB7 BCS1L EPOR HEPH HFE HJV

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 cellular iron ion homeostasis GO:0006879 9.77 ABCB7 ALAS2 CP FXN HAMP HEPH
2 acute-phase response GO:0006953 9.71 HAMP HFE HP TFR2
3 heme biosynthetic process GO:0006783 9.67 ALAS2 FXN SLC11A2
4 transferrin transport GO:0033572 9.67 HFE TF TFR2 TFRC
5 copper ion transport GO:0006825 9.65 CP HEPH SLC11A2
6 response to iron ion GO:0010039 9.65 FXN HAMP HFE SLC11A2 TFR2
7 multicellular organismal iron ion homeostasis GO:0060586 9.62 HAMP HFE SLC11A2 SLC40A1
8 cellular response to iron ion GO:0071281 9.61 HFE TF TFR2
9 positive regulation of receptor-mediated endocytosis GO:0048260 9.56 HFE TF
10 protein autoprocessing GO:0016540 9.55 FXN HJV
11 iron ion transport GO:0006826 9.55 HEPH SLC11A2 SLC40A1 TF TFR2
12 positive regulation of peptide hormone secretion GO:0090277 9.54 HFE TFR2
13 porphyrin-containing compound metabolic process GO:0006778 9.52 ALAS2 SLC11A2
14 response to iron ion starvation GO:1990641 9.51 HAMP HFE
15 iron ion homeostasis GO:0055072 9.23 FXN HEPH HFE HJV SLC11A2 SLC40A1
16 ion transport GO:0006811 10 CP FXN HEPH HFE SLC11A2 SLC40A1

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 copper ion binding GO:0005507 9.63 CP HEPH SLC11A2
2 co-receptor binding GO:0039706 9.49 HFE TFR2
3 ferric iron binding GO:0008199 9.48 FXN TF
4 iron ion transmembrane transporter activity GO:0005381 9.43 SLC11A2 SLC40A1
5 ferrous iron transmembrane transporter activity GO:0015093 9.4 SLC11A2 SLC40A1
6 iron chaperone activity GO:0034986 9.37 FXN TF
7 ferrous iron binding GO:0008198 9.33 FXN HEPH TF
8 transferrin receptor activity GO:0004998 9.32 TFR2 TFRC
9 transferrin transmembrane transporter activity GO:0033570 9.26 TFR2 TFRC
10 ferroxidase activity GO:0004322 9.13 CP FXN HEPH
11 transferrin receptor binding GO:1990459 8.8 HFE HJV TF
Sources

Sources for Atransferrinemia

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 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
Content
Loading form....