AHP
MCID: ANH003
MIFTS: 27

Anhaptoglobinemia (AHP)

Categories: Blood diseases, Genetic diseases

Aliases & Classifications for Anhaptoglobinemia

MalaCards integrated aliases for Anhaptoglobinemia:

Name: Anhaptoglobinemia 57 75 29 6 40 73
Hypohaptoglobinemia 57 75 6 73
Ahaptoglobinemia 57 75
Ahp 57 75

Classifications:



External Ids:

OMIM 57 614081
MeSH 44 D001796

Summaries for Anhaptoglobinemia

UniProtKB/Swiss-Prot : 75 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 strabismus. 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 : 57 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 all 13)
# Related Disease Score Top Affiliating Genes
1 porphyria, acute hepatic 11.1
2 strabismus 10.3
3 epilepsy 10.3
4 malaria 10.1
5 ocular dominance 10.0
6 anencephaly 10.0
7 lepromatous leprosy 10.0
8 heart disease 10.0
9 hemolytic-uremic syndrome 10.0
10 dyspepsia 10.0
11 esotropia 10.0
12 sleeping sickness 9.8 HP HPR
13 trypanosomiasis 9.8 HP HPR

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:

41
Heart

Publications for Anhaptoglobinemia

Articles related to Anhaptoglobinemia:

(show all 14)
# Title Authors Year
1
Anaphylactic transfusion reaction in a patient with anhaptoglobinemia: the first case in Korea. ( 22779074 )
2012
2
Effectiveness of washed platelet concentrate and red cell transfusions for a patient with anhaptoglobinemia with antihaptoglobin antibody. ( 11967140 )
2002
3
Congenital hypohaptoglobinemia in childhood hemolytic uremic syndrome? ( 10867549 )
2000
4
Congenital anhaptoglobinemia versus acquired hypohaptoglobinemia. ( 9558414 )
1998
5
The haptoglobin-gene deletion responsible for anhaptoglobinemia. ( 9463309 )
1998
6
Acquired anhaptoglobinemia in panhypopituitarism. ( 3993662 )
1985
7
Hypohaptoglobinemia associated with familial epilepsy. ( 3981086 )
1985
8
Hypohaptoglobinemia: a possible predisposition to epilepsy. ( 6535352 )
1984
9
Dapsone induced hypohaptoglobinemia in lepromatous leprosy patients. ( 7198620 )
1981
10
Hypohaptoglobinemia in rural and urban populations of Bahia state, Brazil. ( 1017811 )
1976
11
Factors influencing anhaptoglobinemia in newborns from Salvador, Brazil. ( 4435797 )
1974
12
Hypohaptoglobinemia and valvular heart disease: association with hemolysis after insertion of valvular prostheses and in cases in which operation had not been performed. ( 5926652 )
1966
13
Observations on the inheritance of hypohaptoglobinemia. ( 5953193 )
1966
14
Familial hypohaptoglobinemia. A genetically determined trait segragating from glucose-6-phosphate dehydrogenase deficiency. ( 13949483 )
1963

Variations for Anhaptoglobinemia

UniProtKB/Swiss-Prot genetic disease variations for Anhaptoglobinemia:

75
# Symbol AA change Variation ID SNP ID
1 HP p.Ile247Thr VAR_066214 rs104894517

ClinVar genetic disease variations for Anhaptoglobinemia:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 HP HP, DEL deletion Pathogenic
2 HP HP, -61A-C single nucleotide variant Affects
3 HP NM_005143.4(HP): c.740T> C (p.Ile247Thr) single nucleotide variant Affects rs104894517 GRCh37 Chromosome 16, 72094308: 72094308
4 HP NM_005143.4(HP): c.740T> C (p.Ile247Thr) single nucleotide variant Affects rs104894517 GRCh38 Chromosome 16, 72060409: 72060409
5 HP NM_005143.4(HP): c.111dupC (p.Glu38Argfs) duplication Uncertain significance rs778198124 GRCh37 Chromosome 16, 72090451: 72090451
6 HP NM_005143.4(HP): c.111dupC (p.Glu38Argfs) duplication Uncertain significance rs778198124 GRCh38 Chromosome 16, 72056552: 72056552

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 HP HPR

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 HP HPR

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

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

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 HP HPR
2 hemoglobin binding GO:0030492 8.62 HP HPR

Sources for Anhaptoglobinemia

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
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