HPP
MCID: HYP035
MIFTS: 75

Hypophosphatasia (HPP) malady

Genetic diseases, Rare diseases, Bone diseases, Fetal diseases, Oral diseases categories

Summaries for Hypophosphatasia

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22Genetics Home Reference, 44NIH Rare Diseases, 66Wikipedia, 48OMIM, 20GeneReviews, 34MalaCards
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NIH Rare Diseases:44 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:22 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:66 Hypophosphatasia is a rare, and sometimes fatal metabolic bone disease. Clinical symptoms are... more...

Description from OMIM:48 241510,146300,241500

GeneReviews summary for hops

Aliases & Classifications for Hypophosphatasia

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9Disease Ontology, 10diseasecard, 20GeneReviews, 44NIH Rare Diseases, 21GeneTests, 23GTR, 22Genetics Home Reference, 48OMIM, 11DISEASES, 46Novoseek, 50Orphanet, 63UMLS, 36MeSH, 59SNOMED-CT, 41NCIt, 37MESH via Orphanet, 27ICD10 via Orphanet, 60SNOMED-CT via Orphanet, 64UMLS via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

50
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 9 20 44 21 23 22 11 46 50 63
hypophosphatasia, childhood 10 48 46
childhood hypophosphatasia 9 44 63
deficiency of alkaline phosphatase 9 22
hypophosphatasia childhood 44 23
phosphoethanolaminuria 22 50
autosomal recessive hypophosphatemic bone disease 63
hyperpigmentation, familial progressive 63
childhood-onset phosphoethanolaminuria 50
childhood-onset rathburn disease 50
childhood-onset hypophosphatasia 50
hypokalemic periodic paralysis 63
hypophospatasia, childhood 9
infantile hypophosphatasia 63
phosphoethanol-aminuria 44
hypophosphatasia, mild 46
hypophosphatasia mild 44
rathburn disease 50
hhrh 44
hpp 50


External Ids:

Disease Ontology9 DOID:14213
MeSH36 D007014
NCIt41 C26798
MESH via Orphanet37 D007014
ICD10 via Orphanet27 E83.3
SNOMED-CT via Orphanet60 190859005, 360792001, 30174008
UMLS via Orphanet64 C0020630, C0220743

Related Diseases for Hypophosphatasia

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Sources:
18GeneCards, 19GeneDecks
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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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48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

241510

Clinical features from OMIM:

241510,146300,241500

Symptoms:

50 (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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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

Search CenterWatch for Hypophosphatasia

Drug clinical trials:

Search ClinicalTrials for Hypophosphatasia

Search NIH Clinical Center for Hypophosphatasia

Search CenterWatch for Hypophosphatasia

Genetic Tests for Hypophosphatasia

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21GeneTests, 23GTR
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Genetic tests related to Hypophosphatasia:

id Genetic test Affiliating Genes
1 Hypophosphatasia21 23 ALPL
2 Childhood Hypophosphatasia23

Anatomical Context for Hypophosphatasia

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34MalaCards
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MalaCards organs/tissues related to Hypophosphatasia:

34
Bone, Skin, Lung, Liver, Kidney, Testes, Bone marrow, Endothelial, Eye

Animal Models for Hypophosphatasia or affiliated genes

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38MGI
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Publications for Hypophosphatasia

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Sources:
53PubMed
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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, 16Gene 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:
51PathCards, 39NCBI BioSystems Database, 31KEGG, 56Reactome, 61Thomson 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 semialdehyde39
NAD salvage39
NAD metabolism61
8.1ENPP1, ALPI, ALPP, ALPL, ALPPL2

Compounds for genes affiliated with Hypophosphatasia

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Sources:
46Novoseek, 52PharmGKB, 30IUPHAR, 62Tocris Bioscience, 12DrugBank, 3BitterDB, 25HMDB
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Compounds related to Hypophosphatasia according to GeneCards/GeneDecks:

(show top 50)    (show all 97)
idCompoundScoreTop Affiliating Genes
1calcium carbonate469.8DSPP, CALCA, ALPP
2sodium fluoride469.8CALCA, ALPP, DSPP
3pmma469.7ALPP, CALCA, DSPP
4ipriflavone469.7SLPI, ALPP, CALCA
5etidronate469.7ALPP, SLPI, CALCA
6phosphoethanolamine469.6ALPL, ALPI, ALPP
7vitamin k2469.6ALPP, SLPI, CALCA
8risedronate46 52 30 62 1213.6CALCA, ALPP, SLPI
9titanium469.5RUNX2, SLPI, ALPP
10pyridinoline469.5ALPP, CALCA, SLPI
11amifostine46 1210.5ALPL, ENPP1, ALPPL2
12alizarin469.5ALPL, ALPP, SLPI, RUNX2
13tartrate469.4DSPP, CALCA, ALPP, SLPI
14fluoride469.4CALCA, DSPP, SLPI, ALPP
151,25 dihydroxy vitamin d3469.3ALPP, PHEX, CALCA, RUNX2
16p-nitrophenyl phosphate469.3ALPP, ALPI, SLPI
17phosphorus469.3CALCA, ALPP, PHEX, SLPI
18zoledronic acid469.3CALCA, ALPP, SLPI
1925-hydroxyvitamin d469.3ALPP, SLPI, CALCA
20hydrocortisone46 3 62 1212.3CALCA, ALPP, IL1R1, SLPI
21alendronate46 52 1211.2CALCA, RUNX2, DSPP, ALPP, SLPI
22ascorbic acid46 2510.1RUNX2, DSPP, IL1R1, ALPP, SLPI
23hydroxyproline46 25 1211.1KHDRBS3, SLPI, CALCA, ALPP
24cellulose acetate469.1IL1R1, ALPI, ALPP, SLPI
25calcitriol46 62 25 1212.0CALCA, ALPP, SLPI, DSPP, PHEX
261-Pentanol259.0ALPI, ALPPL2, ALPL
271-Hexanol259.0ALPPL2, ALPL, ALPI
28Isobutanol259.0ALPL, ALPPL2, ALPI
29levamisole46 1210.0SLPI, ALPPL2, ALPP, ALPL
30Propyl alcohol258.9ALPI, ALPPL2, ALPL
31Isopropyl alcohol258.9ALPI, ALPL, ALPPL2
321-Butanol258.9ALPPL2, ALPL, ALPI
337,8-dihydroneopterin46 259.8ALPI, ALPP, ALPPL2, ALPL
34dihydroneopterin triphosphate46 259.8ALPL, ALPI, ALPP, ALPPL2
35dihydroxyacetone46 259.8ALPP, ALPI, ALPPL2, ALPL
364-Nitrophenol258.8ALPI, ALPP, ALPL, ALPPL2
37Dihydroxyacetone phosphate258.8ALPP, ALPPL2, ALPL, ALPI
38deoxypyridinoline468.7CALCA, KHDRBS3, CCL27, ALPP, SLPI
39lactate468.6IL1R1, CALCA, ALPP, SLPI, DSPP
40aspartate468.6DSPP, CCL27, SLPI, PHEX, ALPP, ALPL
41pge2468.6SLPI, ALPP, CALCA, IL1R1, CCL27, RUNX2
42dexamethasone46 52 30 1211.4RUNX2, ENPP1, ALPP, CCL27, IL1R1, SLPI
43vitamin d468.3SLPI, PHEX, ALPP, ALPL, RUNX2, DSPP
44creatinine468.2SLPI, ALPI, ALPP, CALCA, IL1R1, CCL27
45butyrate468.2SLPI, ALPI, ALPP, ALPPL2, RUNX2
46estrogen468.1SLPI, ALPP, CALCA, IL1R1, DSPP, RUNX2
47alanine468.1CCL27, IL1R1, ALPP, KHDRBS3, SLPI, DSPP
48magnesium46 25 1210.0ALPPL2, IL1R1, ALPL, ALPP, SLPI, ALPI
49hydroxyapatite467.9ENPP1, SLPI, RUNX2, DSPP, CCL27, ALPL
50calcium46 52 25 129.0CALCA, RUNX2, SPTA1, SLPI, PHEX, ENPP1

GO Terms for genes affiliated with Hypophosphatasia

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17Gene 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
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet