AHP
MCID: ANH003
MIFTS: 30

Anhaptoglobinemia (AHP)

Categories: Blood diseases, Genetic diseases

Aliases & Classifications for Anhaptoglobinemia

MalaCards integrated aliases for Anhaptoglobinemia:

Name: Anhaptoglobinemia 56 73 29 6 39 71
Hypohaptoglobinemia 56 73 6 71
Ahaptoglobinemia 56 73
Ahp 56 73

Classifications:



External Ids:

OMIM 56 614081
MeSH 43 D001796
UMLS 71 C3279786 C3279787

Summaries for Anhaptoglobinemia

UniProtKB/Swiss-Prot : 73 Anhaptoglobinemia: A condition characterized by the absence of the serum glycoprotein haptoglobin. Serum levels of haptoglobin vary among normal persons: levels are low in the neonatal period and in the elderly, differ by population, and can be influenced by environmental factors, such as infection. Secondary hypohaptoglobinemia can occur as a consequence of hemolysis, during which haptoglobin binds to free hemoglobin. Congenital haptoglobin deficiency is a risk factor for anaphylactic non-hemolytic transfusion reactions.

MalaCards based summary : Anhaptoglobinemia, also known as hypohaptoglobinemia, is related to porphyria, acute hepatic and helix syndrome. An important gene associated with Anhaptoglobinemia is HP (Haptoglobin), and among its related pathways/superpathways is Binding and Uptake of Ligands by Scavenger Receptors. Affiliated tissues include heart.

OMIM : 56 Anhaptoglobinemia refers to absence of the serum glycoprotein haptoglobin, a hemoglobin-binding acute-phase protein (summary by Teye et al., 2004). Serum levels of haptoglobin vary among normal persons: levels are low in the neonatal period and in the elderly, differ by population, and can be influenced by environmental factors, such as infection. Secondary hypohaptoglobinemia can occur as a consequence of hemolysis, during which haptoglobin binds to free hemoglobin (summary by Delanghe et al., 1998). (614081)

Related Diseases for Anhaptoglobinemia

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

(show top 50) (show all 55)
# Related Disease Score Top Affiliating Genes
1 porphyria, acute hepatic 11.3
2 helix syndrome 10.5
3 epilepsy 10.4
4 malaria 10.3
5 strabismus 10.3
6 mechanical strabismus 10.3
7 pituitary hormone deficiency, combined, 2 10.2
8 acute promyelocytic leukemia 10.2
9 myelodysplastic syndrome 10.2
10 urticaria 10.2
11 thrombocytopenia 10.2
12 sickle cell disease 10.2
13 coproporphyria, hereditary 10.2
14 porphyria, acute intermittent 10.2
15 variegate porphyria 10.2
16 porphyria 10.2
17 pathologic nystagmus 10.2
18 leprosy 3 10.2
19 lepromatous leprosy 10.2
20 hemolytic-uremic syndrome 10.2
21 heart valve disease 10.2
22 hansen's disease 10.2
23 schistosoma mansoni infection, susceptibility/ 10.1
24 anemia, nonspherocytic hemolytic, due to g6pd deficiency 10.1
25 hemophilia a 10.1
26 hypertension, diastolic 10.1
27 schistosomiasis 10.1
28 hemophilia 10.1
29 cold agglutinin disease 10.1
30 anomaly of chromosome 10 10.1
31 ocular dominance 10.0
32 anencephaly 10.0
33 mycobacterium tuberculosis 1 10.0
34 kala-azar 1 10.0
35 human immunodeficiency virus type 1 10.0
36 ptosis 10.0
37 monocular esotropia 10.0
38 alternating exotropia 10.0
39 exotropia 10.0
40 dumping syndrome 10.0
41 fungal infectious disease 10.0
42 constipation 10.0
43 pulmonary tuberculosis 10.0
44 lipid metabolism disorder 10.0
45 temporal lobe epilepsy 10.0
46 neuroblastoma 10.0
47 influenza 10.0
48 leishmaniasis 10.0
49 cutaneous leishmaniasis 10.0
50 fatty liver disease 10.0

Graphical network of the top 20 diseases related to Anhaptoglobinemia:



Diseases related to Anhaptoglobinemia

Symptoms & Phenotypes for Anhaptoglobinemia

Clinical features from OMIM:

614081

Drugs & Therapeutics for Anhaptoglobinemia

Search Clinical Trials , NIH Clinical Center for Anhaptoglobinemia

Genetic Tests for Anhaptoglobinemia

Genetic tests related to Anhaptoglobinemia:

# Genetic test Affiliating Genes
1 Anhaptoglobinemia 29 HP

Anatomical Context for Anhaptoglobinemia

MalaCards organs/tissues related to Anhaptoglobinemia:

40
Heart

Publications for Anhaptoglobinemia

Articles related to Anhaptoglobinemia:

(show all 44)
# Title Authors PMID Year
1
The haptoglobin-gene deletion responsible for anhaptoglobinemia. 61 56 6
9463309 1998
2
A novel I247T missense mutation in the haptoglobin 2 beta-chain decreases the expression of the protein and is associated with ahaptoglobinemia. 56 6
14999562 2004
3
A-61C and C-101G Hp gene promoter polymorphisms are, respectively, associated with ahaptoglobinaemia and hypohaptoglobinaemia in Ghana. 56 6
14616769 2003
4
Simple PCR detection of haptoglobin gene deletion in anhaptoglobinemic patients with antihaptoglobin antibody that causes anaphylactic transfusion reactions. 56 6
10666182 2000
5
Congenital anhaptoglobinemia versus acquired hypohaptoglobinemia. 56 61
9558414 1998
6
Hypohaptoglobinemia associated with familial epilepsy. 61 56
3981086 1985
7
Haptoglobin phenotypes in HIV-1-seropositive patients in Ghana: decreased risk for Hp0 individuals. 56
10899757 2000
8
Anaphylactic transfusion reactions associated with anti-haptoglobin in a patient with ahaptoglobinemia. 6
10644822 2000
9
Haptoglobin genotyping of Vietnamese: global distribution of HP del, complete deletion allele of the HP gene. 61
25212669 2015
10
Serum proteomic analysis reveals high frequency of haptoglobin deficiency and elevated thyroxine level in heroin addicts. 61
24743330 2014
11
Anaphylactic transfusion reaction in a patient with anhaptoglobinemia: the first case in Korea. 61
22779074 2012
12
Rapid detection of haptoglobin gene deletion in alkaline-denatured blood by loop-mediated isothermal amplification reaction. 61
21497293 2011
13
Development and validation of a SYBR Green I-based real-time polymerase chain reaction method for detection of haptoglobin gene deletion in clinical materials. 61
20113448 2010
14
Neuroprotective role of haptoglobin after intracerebral hemorrhage. 61
20016097 2009
15
Lack of haptoglobin affects iron transport across duodenum by modulating ferroportin expression. 61
17919498 2007
16
Serum proteome of leprosy patients undergoing erythema nodosum leprosum reaction: regulation of expression of the isoforms of haptoglobin. 61
17658739 2007
17
Distinct roles of haptoglobin-related protein and apolipoprotein L-I in trypanolysis by human serum. 61
17360487 2007
18
Effectiveness of washed platelet concentrate and red cell transfusions for a patient with anhaptoglobinemia with antihaptoglobin antibody. 61
11967140 2002
19
Congenital hypohaptoglobinemia in childhood hemolytic uremic syndrome? 61
10867549 2000
20
Hypohaptoglobinaemia as a biochemical and epidemiological marker of falciparum malaria. 61
10778655 1999
21
[Anhaptoglobinemia and hypohaptoglobinemia]. 61
9645165 1998
22
Serum haptoglobin and ferritin during a competitive running and swimming season. 61
9231836 1997
23
[Epilepsy and hypohaptoglobinemia]. 61
1499414 1992
24
Development of a haptoglobin ELISA. Its use as an indicator for malaria. 61
1973025 1990
25
Reduced serum haptoglobin values in hemophiliacs receiving monoclonally purified factor VIII concentrates. 61
2107738 1990
26
[Controverted existence of anhaptoglobinemia in the tropics]. 61
2286003 1990
27
HIV-associated autoimmune hemolytic anemia: report of a case and review of the literature. 61
2204697 1990
28
Hematological changes associated with marathon running. 61
3557778 1987
29
Reduced plasma haptoglobin and urinary taurine in familial seizures identified through the multisib strategy. 61
3740104 1986
30
Acquired anhaptoglobinemia in panhypopituitarism. 61
3993662 1985
31
A sero-biochemical genetic study of Jalari and Brahmin caste populations of Andhra Pradesh, India. 61
3858220 1985
32
Hypohaptoglobinemia: a possible predisposition to epilepsy. 61
6535352 1984
33
Dapsone induced hypohaptoglobinemia in lepromatous leprosy patients. 61
7198620 1981
34
Haptoglobin phenotypes in leprosy. 61
7193656 1980
35
Haptoglobin typing and quantitation in normal Chinese females and gynecologic cancer patients. 61
7449531 1980
36
[The question of anhaptoglobinemia in immigrants from West Africa (author's transl)]. 61
745527 1978
37
[Western African immigrant's anhaptoglobinemia (author's transl)]. 61
351555 1978
38
[Ahaptoglobinemia (hypohaptoglobinemia), its incidence, etiology and significance in paternity serology]. 61
876261 1977
39
Hypohaptoglobinemia in rural and urban populations of Bahia state, Brazil. 61
1017811 1976
40
[Anhaptoglobinemia]. 61
935573 1976
41
Factors influencing anhaptoglobinemia in newborns from Salvador, Brazil. 61
4435797 1974
42
Hypohaptoglobinemia and valvular heart disease: association with hemolysis after insertion of valvular prostheses and in cases in which operation had not been performed. 61
5926652 1966
43
Observations on the inheritance of hypohaptoglobinemia. 61
5953193 1966
44
Familial hypohaptoglobinemia. A genetically determined trait segragating from glucose-6-phosphate dehydrogenase deficiency. 61
13949483 1963

Variations for Anhaptoglobinemia

ClinVar genetic disease variations for Anhaptoglobinemia:

6 ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 HP HP, -61A-CSNV Affects 15901
2 HP NM_005143.5(HP):c.740T>C (p.Ile247Thr)SNV Affects 15902 rs104894517 16:72094308-72094308 16:72060409-72060409
3 HP HP, DELdeletion Pathogenic 15900
4 HP NM_005143.5(HP):c.111dup (p.Glu38fs)duplication Uncertain significance 225387 rs778198124 16:72090445-72090446 16:72056546-72056547

UniProtKB/Swiss-Prot genetic disease variations for Anhaptoglobinemia:

73
# Symbol AA change Variation ID SNP ID
1 HP p.Ile247Thr VAR_066214 rs104894517

Expression for Anhaptoglobinemia

Search GEO for disease gene expression data for Anhaptoglobinemia.

Pathways for Anhaptoglobinemia

Pathways related to Anhaptoglobinemia according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.64 HPR HP

GO Terms for Anhaptoglobinemia

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

# Name GO ID Score Top Affiliating Genes
1 blood microparticle GO:0072562 8.62 HPR HP

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

# Name GO ID Score Top Affiliating Genes
1 proteolysis GO:0006508 9.37 HPR HP
2 receptor-mediated endocytosis GO:0006898 9.32 HPR HP
3 response to organic substance GO:0010033 9.26 HPR HP
4 positive regulation of cell death GO:0010942 9.16 HPR HP
5 zymogen activation GO:0031638 8.96 HPR HP
6 acute inflammatory response GO:0002526 8.62 HPR HP

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

# Name GO ID Score Top Affiliating Genes
1 serine-type endopeptidase activity GO:0004252 8.96 HPR HP
2 hemoglobin binding GO:0030492 8.62 HPR HP

Sources for Anhaptoglobinemia

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
Content
Loading form....