HPP
MCID: HYP035
MIFTS: 75

Hypophosphatasia (HPP) malady

Genetic diseases, Rare diseases, Bone diseases, Fetal diseases, Oral diseases categories
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Summaries for Hypophosphatasia

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21Genetics Home Reference, 43NIH Rare Diseases, 65Wikipedia, 47OMIM, 19GeneReviews, 33MalaCards
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NIH Rare Diseases:43 Hypophosphatasia is a genetic condition in which the activity of an enzyme called alkaline phosphatase is deficient.  this enzyme plays an essential role in mineralization - when minerals such as calcium and phosphorus are deposited in developing bones and teeth.  low activity of this enzyme which characterizes hypophosphatasia also leads to rickets, osteomalacia, or both.  the severity of the symptoms of hypophosphatasia varies widely, from fetal loss during pregnancy to cases in which pathologic fractures first present only in adulthood.  hypophosphatasia is caused by a mutation in a gene - called the alpl gene - that provides instructions for making the alkaline phosphatase enzyme. a cure or proven medical therapy for hypophosphatasia has not yet been found. treatment is generally directed towards preventing or correcting the symptoms or complications. last updated: 11/4/2009

MalaCards: Hypophosphatasia, also known as hypophosphatasia, childhood, is related to hypophosphatasia, infantile and periodontitis, and has symptoms including stillbirth/neonatal death, hypercalcemia and anaemia. An important gene associated with Hypophosphatasia is ALPL (alkaline phosphatase, liver/bone/kidney), and among its related pathways are Endochondral Ossification and Folate biosynthesis. The compounds calcium carbonate and sodium fluoride have been mentioned in the context of this disorder. Affiliated tissues include bone, skin and lung, and related mouse phenotypes are adipose tissue and other.

Genetics Home Reference:21 Hypophosphatasia is an inherited disorder that affects the development of bones and teeth. This condition disrupts a process called mineralization, in which minerals such as calcium and phosphorus are deposited in developing bones and teeth. Mineralization is critical for the formation of bones that are strong and rigid and teeth that can withstand chewing and grinding.

Wikipedia:65 Hypophosphatasia is a rare, and sometimes fatal metabolic bone disease. Clinical symptoms are... more...

Description from OMIM:47 241510,146300,241500

GeneReviews summary for hops

Aliases & Classifications for Hypophosphatasia

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8Disease Ontology, 9diseasecard, 19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 47OMIM, 10DISEASES, 45Novoseek, 49Orphanet, 62UMLS, 35MeSH, 58SNOMED-CT, 40NCIt, 36MESH via Orphanet, 26ICD10 via Orphanet, 59SNOMED-CT via Orphanet, 63UMLS via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

49
hypophosphatasia:
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Variable; Age of death: Any age
childhood-onset phosphoethanolaminuria:
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Childhood


Aliases & Descriptions:

hypophosphatasia 8 19 43 20 22 21 10 45 49 62
hypophosphatasia, childhood 9 47 45
childhood hypophosphatasia 8 43 62
deficiency of alkaline phosphatase 8 21
hypophosphatasia childhood 43 22
phosphoethanolaminuria 21 49
autosomal recessive hypophosphatemic bone disease 62
hyperpigmentation, familial progressive 62
childhood-onset phosphoethanolaminuria 49
childhood-onset rathburn disease 49
childhood-onset hypophosphatasia 49
hypokalemic periodic paralysis 62
hypophospatasia, childhood 8
infantile hypophosphatasia 62
phosphoethanol-aminuria 43
hypophosphatasia, mild 45
hypophosphatasia mild 43
rathburn disease 49
hhrh 43
hpp 49


External Ids:

Disease Ontology8 DOID:14213
MeSH35 D007014
NCIt40 C26798
MESH via Orphanet36 D007014
ICD10 via Orphanet26 E83.3
SNOMED-CT via Orphanet59 190859005, 360792001, 30174008
UMLS via Orphanet63 C0020630, C0220743

Related Diseases for Hypophosphatasia

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Sources:
17GeneCards, 18GeneDecks
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Diseases in the Hypophosphatasia family:

Hypophosphatasia, Adult

Diseases related to Hypophosphatasia via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 103)
idRelated DiseaseScoreTop Affiliating Genes
1hypophosphatasia, infantile30.7ALPL, ALPP
2periodontitis30.6SLPI, IL1R1
3cleidocranial dysplasia30.4RUNX2, ALPL
4osteogenesis imperfecta30.3ALPP, ALPL, ALPPL2, DSPP
5hypercalcemia30.2CALCA, ALPPL2, ALPL, ALPP, SLPI
6periodontal disease30.2SLPI, ALPP, DSPP
7pancreatitis30.1ALPP, ALPL, ALPPL2
8renal osteodystrophy30.1CALCA, ALPPL2, ALPL, ALPP, SLPI
9gingivitis30.0DSPP, ALPP
10hyperparathyroidism30.0CALCA, ALPPL2, ALPL, ALPP, PHEX, SLPI
11psoriasis30.0CCL27, IL1R1, SLPI
12x-linked hypophosphatemia30.0DSPP, ENPP1, PHEX
13hyperphosphatemia29.9RUNX2, ALPPL2, ALPL, ALPP, SLPI
14leukemia29.8RUNX2, IL1R1, ALPPL2, ALPL, ALPP, SLPI
15hypophosphatemia29.8DSPP, CALCA, ALPPL2, ALPL, ALPP, PHEX
16osteomalacia29.8CALCA, ALPPL2, ALPL, ALPP, PHEX, SLPI
17osteoarthritis29.8RUNX2, DSPP, IL1R1, CALCA, ENPP1, SLPI
18hypokalemic periodic paralysis10.3
19pyropoikilocytosis10.3
20pyropoikilocytosis hereditary10.2
21odontohypophosphatasia10.2
22hypophosphatasia, adult10.2
23pulpitis10.1DSPP
24ankylosis10.1ENPP1
25periarthritis10.1
26pseudotumor cerebri10.1
27arthropathy10.1
28myopathy10.1
29osteomyelitis10.1
30infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovasuclar malformations10.1
31prenatal benign hypophosphatasia10.1
32allergic contact dermatitis10.1DSPP, CCL27
33germ cell cancer10.1ALPP, ALPPL2
34endodermal sinus tumor10.1ALPP, ALPPL2
35gonadoblastoma10.1ALPPL2, ALPP
36osteitis fibrosa10.1ALPP, ALPL, ALPPL2
37bacterial vaginosis10.1IL1R1, SLPI
38osteosclerosis10.1ALPPL2, ALPL, ALPP
39choledocholithiasis10.1ALPP, ALPL, ALPPL2
40osteonecrosis10.1ALPPL2, ALPL, ALPP
41cholelithiasis10.1ALPP, ALPL, ALPPL2
42adult respiratory distress syndrome10.1IL1R1, SLPI
43cholangitis10.1ALPPL2, ALPL, ALPP
44bilirubin metabolic disorder10.1ALPPL2, ALPL, ALPP
45embryonal cancer10.1ALPPL2, ALPL, ALPP
46skin disease10.1ALPPL2, ALPL, ALPP
47teratoma10.1ALPPL2, ALPL, ALPP
48leukopenia10.1ALPP, ALPL, ALPPL2
49cryptorchidism10.1ALPPL2, ALPP
50inflammatory bowel disease10.1ALPPL2, ALPL, ALPP

Graphical network of the top 20 diseases related to Hypophosphatasia:



Diseases related to hypophosphatasia

Symptoms for Hypophosphatasia

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Sources:
47OMIM, 49Orphanet
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Symptoms by clinical synopsis from OMIM:

241510

Clinical features from OMIM:

241510,146300,241500

Symptoms:

49 (show all 20)
  • stillbirth/neonatal death
  • hypercalcemia
  • anaemia
  • mutiple fractures/bone fragility
  • psychic/behavioural troubles
  • seizures/epilepsy/absences/spasms/status epilepticus
  • hypotonia
  • large fontanelle/delayed fontanelle closure
  • anomalies of teeth and dentition
  • narrow rib cage/thorax
  • anomalies of the ribs
  • dermoid sinus/dimple/pit (excluding sacral)
  • emphysema
  • metaphyseal anomaly
  • bowed diaphysis/diaphyses/long bones
  • autosomal recessive inheritance
  • short stature/dwarfism/nanism
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • respiratory distress/dyspnea/respiratory failure/lung volume reduction
  • craniostenosis/craniosynostosis/sutural synostosis

Drugs & Therapeutics for Hypophosphatasia

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Sources:
42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

Search ClinicalTrials for Hypophosphatasia

Search NIH Clinical Center for Hypophosphatasia

Genetic Tests for Hypophosphatasia

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20GeneTests, 22GTR
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Genetic tests related to Hypophosphatasia:

id Genetic test Affiliating Genes
1 Hypophosphatasia20 22 ALPL
2 Childhood Hypophosphatasia22

Anatomical Context for Hypophosphatasia

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33MalaCards
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MalaCards organs/tissues related to Hypophosphatasia:

33
Bone, Skin, Lung, Liver, Kidney, Testes, Bone marrow, Endothelial, Eye

Animal Models for Hypophosphatasia or affiliated genes

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37MGI
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Publications for Hypophosphatasia

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Sources:
52PubMed
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Articles related to Hypophosphatasia:

(show top 50)    (show all 447)
idTitleAuthorsYear
1
Infantile hypophosphatasia without bone deformities presenting with severe pyridoxine-resistant seizures. (24100244)
2013
2
Infantile hypophosphatasia secondary to a novel compound heterozygous mutation presenting with pyridoxine-responsive seizures. (23479201)
2013
3
Hypophosphatasia-associated deficiencies in mineralization and gene expression in cultured dental pulp cells obtained from human teeth. (22703652)
2012
4
Bone quality changes in 3 cases of hypophosphatasia: a FTIRI study. (24134971)
2012
5
In silico scoring of ALPL gene mutations help to distinguish severe and moderate phenotypes in hypophosphatasia. (24134979)
2012
6
Successful gene therapy in utero for lethal murine hypophosphatasia. (22133046)
2012
7
Evolutionary analysis of ALPL validates and predicts human mutations leading to hypophosphatasia. (24134978)
2012
8
Lack of sustained response to teriparatide in a patient with adult hypophosphatasia. (20089612)
2010
9
Orodental phenotype and genotype findings in all subtypes of hypophosphatasia. (19232125)
2009
10
Atypical femoral fractures, bisphosphonates, and adult hypophosphatasia. (19113923)
2009
11
Mild forms of hypophosphatasia mostly result from dominant negative effect of severe alleles or from compound heterozygosity for severe and moderate alleles. (19500388)
2009
12
Molecular basis of perinatal hypophosphatasia with tissue-nonspecific alkaline phosphatase bearing a conservative replacement of valine by alanine at position 406. Structural importance of the crown domain. (18422967)
2008
13
Specific ultrasonographic features of perinatal lethal hypophosphatasia. (18386808)
2008
14
A new mechanism of dominance in hypophosphatasia: the mutated protein can disturb the cell localization of the wild-type protein. (18340466)
2008
15
Hyperechoic metaphyses in hypophosphatasia: what does it mean? (18084754)
2008
16
Therapy for hypophosphatasia]. (17906415)
2007
17
Aberrant interchain disulfide bridge of tissue-nonspecific alkaline phosphatase with an Arg433-->Cys substitution associated with severe hypophosphatasia. (17212778)
2006
18
Neonatal hypophosphatasia and seizures. A case report. (16205618)
2005
19
Characterization of 11 novel mutations in the tissue non-specific alkaline phosphatase gene responsible for hypophosphatasia and genotype-phenotype correlations. (15694177)
2005
20
Sustained osteomalacia of long bones despite major improvement in other hypophosphatasia-related mineral deficits in tissue nonspecific alkaline phosphatase/nucleotide pyrophosphatase phosphodiesterase 1 double-deficient mice. (15920156)
2005
21
Mutational analysis and functional correlation with phenotype in German patients with childhood-type hypophosphatasia. (11760847)
2001
22
A molecular approach to dominance in hypophosphatasia. (11479741)
2001
23
Comparison of serum catalytic activity and immunoreactivity of bone alkaline phosphatase in hypophosphatasia. (10727673)
2000
24
Hypophosphatasia: diagnostic application of linked DNA markers in the dominantly inherited adult form. (10369796)
1999
25
Expression of the mutant (1735T-DEL) tissue-nonspecific alkaline phosphatase gene from hypophosphatasia patients. (9844100)
1998
26
Defective intracellular transport of tissue-nonspecific alkaline phosphatase with an Ala162-->Thr mutation associated with lethal hypophosphatasia. (9562633)
1998
27
Adult hypophosphatasia in an aged patient. (9272313)
1997
28
Alkaline phosphatase: placental and tissue-nonspecific isoenzymes hydrolyze phosphoethanolamine, inorganic pyrophosphate, and pyridoxal 5'-phosphate. Substrate accumulation in carriers of hypophosphatasia corrects during pregnancy. (7706447)
1995
29
Recurrent calcific periarthritis, erosive osteoarthritis and hypophosphatasia: a family study. (2290172)
1990
30
Increased plasma pyridoxal-5'-phosphate levels before and after pyridoxine loading in carriers of perinatal/infantile hypophosphatasia. (2079838)
1990
31
Hyperphosphatemia in infantile hypophosphatasia: implications for carrier diagnosis and screening. (2301398)
1990
32
Biochemical and morphological effects of human hepatic alkaline phosphatase in a neonate with hypophosphatasia. (2642253)
1989
33
Ectopic calcification in hypophosphatasia. (3769946)
1986
34
Inheritance of hypophosphatasia. (4069031)
1985
35
Histologic and ultrastructural studies on the mineralization process in hypophosphatasia. (4073124)
1985
36
Hypophosphatasia (adult form): quantitation of serum alkaline phosphatase isoenzyme activity in a large kindred. (7379306)
1980
37
Hypophosphatasia: biochemical diagnosis in post-mortem organs, plasma and diploid skin fibroblasts [proceedings]. (93946)
1979
38
Prenatal diagnosis of hypophosphatasia. (73053)
1977
39
Hypophosphatasia. Review of 24 cases. (1012798)
1976
40
The diagnosis of the early infantile form of hypophosphatasia tarda. (1150259)
1975
41
Fatal neonatal dwarfism: examples of thanatophoric dwarfism and of hypophosphatasia. (4618133)
1974
42
Hyperparathyroidism in an elderly adult with hypophosphatasia. (4837933)
1974
43
Hypophosphatasia. (5020955)
1972
44
Childhood hypophosphatasia. Clinical and cytogenetic studies. (4506889)
1972
45
Radiological case of the month. Hypophosphatasia in the newborn. (4327541)
1971
46
Phosphorylethanolamine and hypophosphatasia. (4306219)
1968
47
HYPOPHOSPHATASIA. A METABOLIC DISEASE WITH IMPORTANT DENTAL MANIFESTATIONS. (14230754)
1964
48
Hypophosphatasia: a genetic study. (14490519)
1961
49
Hypophosphatasia in the adult. (13800162)
1960
50
HYPOPHOSPHATASIA. (13575173)
1958

Variations for Hypophosphatasia

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Hypophosphatasia:

1 (show all 14)
id Gene Name Type Significance SNP ID Assembly Location
1ALPLNM_000478.4(ALPL): c.881A> C (p.Asp294Ala)single nucleotide variantPathogenicrs121918002GRCh37Chr 1, 21900176: 21900176
2ALPLNM_000478.4(ALPL): c.571G> A (p.Glu191Lys)single nucleotide variantPathogenicrs121918007GRCh37Chr 1, 21890632: 21890632
3ALPLNM_000478.4(ALPL): c.407G> A (p.Arg136His)single nucleotide variantPathogenicrs121918011GRCh37Chr 1, 21889712: 21889712
4ALPLNM_000478.4(ALPL): c.485G> T (p.Gly162Val)single nucleotide variantPathogenicrs121918012GRCh37Chr 1, 21890546: 21890546
5ALPLNM_000478.4(ALPL): c.346G> A (p.Ala116Thr)single nucleotide variantPathogenicrs121918013GRCh37Chr 1, 21889651: 21889651
6ALPLNM_000478.4(ALPL): c.746G> T (p.Gly249Val)single nucleotide variantPathogenicrs121918018GRCh37Chr 1, 21894694: 21894694
7ALPLNM_000478.4(ALPL): c.526G> A (p.Ala176Thr)single nucleotide variantPathogenicrs121918019GRCh37Chr 1, 21890587: 21890587
8ALPLNM_000478.4(ALPL): c.814C> T (p.Arg272Cys)single nucleotide variantPathogenicrs121918020GRCh37Chr 1, 21896819: 21896819
9SLC34A3NM_001177317.1(SLC34A3): c.1058G> T (p.Arg353Leu)single nucleotide variantPathogenicrs121918234GRCh37Chr 9, 140128693: 140128693
10SLC34A3NM_001177317.1(SLC34A3): c.1238C> A (p.Ala413Glu)single nucleotide variantPathogenicrs121918235GRCh37Chr 9, 140129086: 140129086
11SLC34A3NM_001177317.1(SLC34A3): c.846G> A (p.Pro282=)single nucleotide variantPathogenicrs121918236GRCh37Chr 9, 140128174: 140128174
12SLC34A3NM_001177317.1(SLC34A3): c.586G> A (p.Gly196Arg)single nucleotide variantPathogenicrs121918237GRCh37Chr 9, 140127686: 140127686
13SLC34A3NM_001177317.1(SLC34A3): c.1402C> T (p.Arg468Trp)single nucleotide variantPathogenicrs121918238GRCh37Chr 9, 140130470: 140130470
14SLC34A3NM_001177317.1(SLC34A3): c.756G> A (p.Gln252=)single nucleotide variantPathogenicrs121918239GRCh37Chr 9, 140127856: 140127856

Expression for genes affiliated with Hypophosphatasia

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Hypophosphatasia

Search GEO for disease gene expression data for Hypophosphatasia.

Pathways for genes affiliated with Hypophosphatasia

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Sources:
50PathCards, 38NCBI BioSystems Database, 30KEGG, 55Reactome, 60Thomson Reuters
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Pathways related to Hypophosphatasia according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.7ENPP1, ALPL, RUNX2
28.4ALPPL2, ALPL, ALPP, ALPI
3
Show member pathways
NAD biosynthesis from 2-amino-3-carboxymuconate semialdehyde38
NAD salvage38
NAD metabolism60
8.1ENPP1, ALPI, ALPP, ALPL, ALPPL2

Compounds for genes affiliated with Hypophosphatasia

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Sources:
45Novoseek, 51PharmGKB, 29IUPHAR, 61Tocris Bioscience, 11DrugBank, 3BitterDB, 24HMDB
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Compounds related to Hypophosphatasia according to GeneCards/GeneDecks:

(show top 50)    (show all 97)
idCompoundScoreTop Affiliating Genes
1calcium carbonate459.8DSPP, CALCA, ALPP
2sodium fluoride459.8CALCA, ALPP, DSPP
3pmma459.7ALPP, CALCA, DSPP
4ipriflavone459.7SLPI, ALPP, CALCA
5etidronate459.7ALPP, SLPI, CALCA
6phosphoethanolamine459.6ALPL, ALPI, ALPP
7vitamin k2459.6ALPP, SLPI, CALCA
8risedronate45 51 29 61 1113.6CALCA, ALPP, SLPI
9titanium459.5RUNX2, SLPI, ALPP
10pyridinoline459.5ALPP, CALCA, SLPI
11amifostine45 1110.5ALPL, ENPP1, ALPPL2
12alizarin459.5ALPL, ALPP, SLPI, RUNX2
13tartrate459.4DSPP, CALCA, ALPP, SLPI
14fluoride459.4CALCA, DSPP, SLPI, ALPP
151,25 dihydroxy vitamin d3459.3ALPP, PHEX, CALCA, RUNX2
16p-nitrophenyl phosphate459.3ALPP, ALPI, SLPI
17phosphorus459.3CALCA, ALPP, PHEX, SLPI
18zoledronic acid459.3CALCA, ALPP, SLPI
1925-hydroxyvitamin d459.3ALPP, SLPI, CALCA
20hydrocortisone45 3 61 1112.3CALCA, ALPP, IL1R1, SLPI
21alendronate45 51 1111.2CALCA, RUNX2, DSPP, ALPP, SLPI
22ascorbic acid45 2410.1RUNX2, DSPP, IL1R1, ALPP, SLPI
23hydroxyproline45 24 1111.1KHDRBS3, SLPI, CALCA, ALPP
24cellulose acetate459.1IL1R1, ALPI, ALPP, SLPI
25calcitriol45 61 24 1112.0CALCA, ALPP, SLPI, DSPP, PHEX
261-Pentanol249.0ALPI, ALPPL2, ALPL
271-Hexanol249.0ALPPL2, ALPL, ALPI
28Isobutanol249.0ALPL, ALPPL2, ALPI
29levamisole45 1110.0SLPI, ALPPL2, ALPP, ALPL
30Propyl alcohol248.9ALPI, ALPPL2, ALPL
31Isopropyl alcohol248.9ALPI, ALPL, ALPPL2
321-Butanol248.9ALPPL2, ALPL, ALPI
337,8-dihydroneopterin45 249.8ALPI, ALPP, ALPPL2, ALPL
34dihydroneopterin triphosphate45 249.8ALPL, ALPI, ALPP, ALPPL2
35dihydroxyacetone45 249.8ALPP, ALPI, ALPPL2, ALPL
364-Nitrophenol248.8ALPI, ALPP, ALPL, ALPPL2
37Dihydroxyacetone phosphate248.8ALPP, ALPPL2, ALPL, ALPI
38deoxypyridinoline458.7CALCA, KHDRBS3, CCL27, ALPP, SLPI
39lactate458.6IL1R1, CALCA, ALPP, SLPI, DSPP
40aspartate458.6DSPP, CCL27, SLPI, PHEX, ALPP, ALPL
41pge2458.6SLPI, ALPP, CALCA, IL1R1, CCL27, RUNX2
42dexamethasone45 51 29 1111.4RUNX2, ENPP1, ALPP, CCL27, IL1R1, SLPI
43vitamin d458.3SLPI, PHEX, ALPP, ALPL, RUNX2, DSPP
44creatinine458.2SLPI, ALPI, ALPP, CALCA, IL1R1, CCL27
45butyrate458.2SLPI, ALPI, ALPP, ALPPL2, RUNX2
46estrogen458.1SLPI, ALPP, CALCA, IL1R1, DSPP, RUNX2
47alanine458.1CCL27, IL1R1, ALPP, KHDRBS3, SLPI, DSPP
48magnesium45 24 1110.0ALPPL2, IL1R1, ALPL, ALPP, SLPI, ALPI
49hydroxyapatite457.9ENPP1, SLPI, RUNX2, DSPP, CCL27, ALPL
50calcium45 51 24 119.0CALCA, RUNX2, SPTA1, SLPI, PHEX, ENPP1

GO Terms for genes affiliated with Hypophosphatasia

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Sources:
16Gene Ontology
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Cellular components related to Hypophosphatasia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1anchored component of membraneGO:0312258.1ALPI, ALPP, ALPL, ALPPL2
2plasma membraneGO:0058867.5ALPPL2, ALPL, ALPP, ALPI, ENPP1, PHEX

Biological processes related to Hypophosphatasia according to GeneCards/GeneDecks:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1biomineral tissue developmentGO:03121410.0DSPP, ENPP1
2negative regulation of ossificationGO:0302799.9ENPP1, CALCA
3regulation of inflammatory responseGO:0507279.8CALCA, IL1R1
4endochondral ossificationGO:0019589.8ALPL, RUNX2
5skeletal system developmentGO:0015019.7PHEX, ALPL, DSPP
6cell-cell signalingGO:0072678.9PHEX, CALCA, CCL27
7dephosphorylationGO:0163118.8ALPI, ALPP, ALPPL2

Molecular functions related to Hypophosphatasia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1alkaline phosphatase activityGO:0040358.4ALPI, ALPP, ALPL, ALPPL2

Products for genes affiliated with Hypophosphatasia

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Hypophosphatasia

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet