HHRH
MCID: HYP035
MIFTS: 71

Hypophosphatasia (HHRH) malady

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

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NIH Rare Diseases:42 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 based summary: Hypophosphatasia, also known as deficiency of alkaline phosphatase, is related to hypophosphatasia, infantile and periodontitis, and has symptoms including 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 kidney, 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...

Descriptions from OMIM:46 146300,241500,241510

GeneReviews summary for hops

Aliases & Classifications for Hypophosphatasia

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Sources:
8Disease Ontology, 19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 10DISEASES, 44Novoseek, 62UMLS, 9diseasecard, 46OMIM, 48Orphanet, 57SNOMED-CT, 34MeSH, 39NCIt, 26ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Hypophosphatasia, Aliases & Descriptions:

Name: Hypophosphatasia 8 19 42 20 22 21 10 44 62
Deficiency of Alkaline Phosphatase 8 21 62
Hypophosphatasia, Childhood 9 46 44
Childhood Hypophosphatasia 8 42 62
Hypophosphatasia Childhood 42 22
Autosomal Recessive Hypophosphatemic Bone Disease 62
Childhood-Onset Phosphoethanolaminuria 48
Childhood-Onset Hypophosphatasia 48
 
Childhood-Onset Rathburn Disease 48
Hypophospatasia, Childhood 8
Infantile Hypophosphatasia 62
Phosphoethanol-Aminuria 42
Phosphoethanolaminuria 21
Hypophosphatasia, Mild 44
Hypophosphatasia Mild 42
Hhrh 42


Classifications:



Characteristics (Orphanet epidemiological data):

48
childhood-onset phosphoethanolaminuria:
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Childhood


External Ids:

Disease Ontology8 DOID:14213
MeSH34 D007014
NCIt39 C26798
ICD10 via Orphanet26 E83.3
UMLS via Orphanet63 C0220743

Related Diseases for Hypophosphatasia

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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 99)
idRelated DiseaseScoreTop Affiliating Genes
1hypophosphatasia, infantile31.3ALPP, ALPL
2periodontitis30.9SLPI, IL1R1
3cleidocranial dysplasia30.7RUNX2, ALPL
4periodontal disease30.6ALPP, DSPP, SLPI
5osteogenesis imperfecta30.6ALPL, ALPPL2, DSPP, ALPP
6gingivitis30.5ALPP, DSPP
7hypercalcemia30.3ALPL, SLPI, ALPP, ALPPL2, CALCA
8x-linked hypophosphatemia30.2ENPP1, PHEX, DSPP
9renal osteodystrophy30.0ALPP, ALPL, SLPI, CALCA, ALPPL2
10hyperphosphatemia29.9SLPI, ALPL, ALPP, ALPPL2, RUNX2
11hyperparathyroidism29.7ALPP, SLPI, PHEX, ALPL, CALCA, ALPPL2
12leukemia29.6ALPP, ALPPL2, SLPI, ALPL, IL1R1, RUNX2
13hypophosphatemia29.5PHEX, ALPL, ALPPL2, ALPP, CALCA, DSPP
14osteomalacia29.5CALCA, SLPI, ALPP, PHEX, ALPL, ALPPL2
15osteoarthritis29.4CALCA, DSPP, IL1R1, ENPP1, SLPI, RUNX2
16pulpitis10.5DSPP
17ankylosis10.4ENPP1
18allergic contact dermatitis10.4CCL27, DSPP
19germ cell cancer10.4ALPP, ALPPL2
20endodermal sinus tumor10.4ALPP, ALPPL2
21gonadoblastoma10.3ALPPL2, ALPP
22osteitis fibrosa10.3ALPP, ALPL, ALPPL2
23odontohypophosphatasia10.3
24bacterial vaginosis10.3IL1R1, SLPI
25osteosclerosis10.3ALPPL2, ALPP, ALPL
26adult respiratory distress syndrome10.3IL1R1, SLPI
27choledocholithiasis10.3ALPPL2, ALPP, ALPL
28osteonecrosis10.3ALPPL2, ALPL, ALPP
29cholelithiasis10.3ALPL, ALPP, ALPPL2
30cholangitis10.3ALPL, ALPP, ALPPL2
31bilirubin metabolic disorder10.3ALPL, ALPP, ALPPL2
32embryonal cancer10.3ALPPL2, ALPL, ALPP
33teratoma10.3ALPL, ALPP, ALPPL2
34skin disease10.3ALPPL2, ALPL, ALPP
35leukopenia10.3ALPL, ALPP, ALPPL2
36cryptorchidism10.3ALPPL2, ALPP
37inflammatory bowel disease10.3ALPL, ALPP, ALPPL2
38hypersensitivity reaction type ii disease10.3ALPP, ALPL, ALPPL2
39pancreatitis10.3ALPL, ALPP, ALPPL2
40hypophosphatemic rickets with hypercalciuria10.2
41vascular disease10.2ALPL, ALPPL2, ALPP
42pseudotumor cerebri10.2
43hypophosphatasia, adult10.2
44hypoparathyroidism10.2ALPP, CALCA
45progressive osseous heteroplasia10.2ALPP, ENPP1, RUNX2
46craniosynostosis10.2ALPL, ENPP1, RUNX2
47cork-handlers' disease10.2ALPL, ALPPL2, SLPI, ALPP
48primary hyperparathyroidism10.2ALPP, CALCA
49cholestasis10.2ALPL, ALPPL2, ALPP, SLPI
50hyperthyroidism10.2ALPL, ALPP, SLPI, ALPPL2

Graphical network of the top 20 diseases related to Hypophosphatasia:



Diseases related to hypophosphatasia

Symptoms for Hypophosphatasia

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Symptoms by clinical synopsis from OMIM:

241510

Clinical features from OMIM:

146300,241500,241510

HPO human phenotypes related to Hypophosphatasia:

(show all 18)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 dolichocephaly HP:0000268
3 proptosis HP:0000520
4 carious teeth HP:0000670
5 rachitic rosary HP:0000897
6 skin dimple over apex of long bone angulation HP:0001024
7 seizures HP:0001250
8 craniosynostosis HP:0001363
9 frontal bossing HP:0002007
10 waddling gait HP:0002515
11 bowing of the legs HP:0002979
12 myopathy HP:0003198
13 phosphoethanolaminuria HP:0003239
14 low alkaline phosphatase HP:0003282
15 elevated urine pyrophosphate HP:0003491
16 short stature HP:0004322
17 premature loss of primary teeth HP:0006323
18 elevated plasma pyrophosphate HP:0011864

Drugs & Therapeutics for Hypophosphatasia

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Drug clinical trials:

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Search NIH Clinical Center for Hypophosphatasia

Genetic Tests for Hypophosphatasia

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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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MalaCards organs/tissues related to Hypophosphatasia:

32
Bone, Skin, Kidney, Liver, Bone marrow, Testes, Neutrophil, Eye, Endothelial

Animal Models for Hypophosphatasia or affiliated genes

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Publications for Hypophosphatasia

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Articles related to Hypophosphatasia:

(show top 50)    (show all 453)
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
Did Tutankhamun suffer from hypophosphatasia?--A hypothetical approach. (24466636)
2013
4
Hypophosphatasia-associated deficiencies in mineralization and gene expression in cultured dental pulp cells obtained from human teeth. (22703652)
2012
5
Bone quality changes in 3 cases of hypophosphatasia: a FTIRI study. (24134971)
2012
6
In silico scoring of ALPL gene mutations help to distinguish severe and moderate phenotypes in hypophosphatasia. (24134979)
2012
7
Successful gene therapy in utero for lethal murine hypophosphatasia. (22133046)
2012
8
Hypophosphatasia presenting with pyridoxine-responsive seizures, hypercalcemia, and pseudotumor cerebri: case report. (22394703)
2012
9
Lack of sustained response to teriparatide in a patient with adult hypophosphatasia. (20089612)
2010
10
Orodental phenotype and genotype findings in all subtypes of hypophosphatasia. (19232125)
2009
11
Atypical femoral fractures, bisphosphonates, and adult hypophosphatasia. (19113923)
2009
12
Mild forms of hypophosphatasia mostly result from dominant negative effect of severe alleles or from compound heterozygosity for severe and moderate alleles. (19500388)
2009
13
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
14
Specific ultrasonographic features of perinatal lethal hypophosphatasia. (18386808)
2008
15
A new mechanism of dominance in hypophosphatasia: the mutated protein can disturb the cell localization of the wild-type protein. (18340466)
2008
16
Hyperechoic metaphyses in hypophosphatasia: what does it mean? (18084754)
2008
17
Therapy for hypophosphatasia]. (17906415)
2007
18
Aberrant interchain disulfide bridge of tissue-nonspecific alkaline phosphatase with an Arg433-->Cys substitution associated with severe hypophosphatasia. (17212778)
2006
19
Neonatal hypophosphatasia and seizures. A case report. (16205618)
2005
20
Characterization of 11 novel mutations in the tissue non-specific alkaline phosphatase gene responsible for hypophosphatasia and genotype-phenotype correlations. (15694177)
2005
21
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
22
Mutational analysis and functional correlation with phenotype in German patients with childhood-type hypophosphatasia. (11760847)
2001
23
A molecular approach to dominance in hypophosphatasia. (11479741)
2001
24
Comparison of serum catalytic activity and immunoreactivity of bone alkaline phosphatase in hypophosphatasia. (10727673)
2000
25
Hypophosphatasia: diagnostic application of linked DNA markers in the dominantly inherited adult form. (10369796)
1999
26
Expression of the mutant (1735T-DEL) tissue-nonspecific alkaline phosphatase gene from hypophosphatasia patients. (9844100)
1998
27
Defective intracellular transport of tissue-nonspecific alkaline phosphatase with an Ala162-->Thr mutation associated with lethal hypophosphatasia. (9562633)
1998
28
Adult hypophosphatasia in an aged patient. (9272313)
1997
29
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
30
Recurrent calcific periarthritis, erosive osteoarthritis and hypophosphatasia: a family study. (2290172)
1990
31
Increased plasma pyridoxal-5'-phosphate levels before and after pyridoxine loading in carriers of perinatal/infantile hypophosphatasia. (2079838)
1990
32
Hyperphosphatemia in infantile hypophosphatasia: implications for carrier diagnosis and screening. (2301398)
1990
33
Biochemical and morphological effects of human hepatic alkaline phosphatase in a neonate with hypophosphatasia. (2642253)
1989
34
Ectopic calcification in hypophosphatasia. (3769946)
1986
35
Inheritance of hypophosphatasia. (4069031)
1985
36
Histologic and ultrastructural studies on the mineralization process in hypophosphatasia. (4073124)
1985
37
Hypophosphatasia (adult form): quantitation of serum alkaline phosphatase isoenzyme activity in a large kindred. (7379306)
1980
38
Hypophosphatasia: biochemical diagnosis in post-mortem organs, plasma and diploid skin fibroblasts [proceedings]. (93946)
1979
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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Clinvar genetic disease variations for Hypophosphatasia:

6 (show all 21)
id Gene Name Type Significance SNP ID Assembly Location
1ALPLNM_000478.4(ALPL): c.535G> A (p.Ala179Thr)single nucleotide variantPathogenicrs121918000GRCh37Chr 1, 21890596: 21890596
2ALPLNM_000478.4(ALPL): c.211C> T (p.Arg71Cys)single nucleotide variantPathogenicrs121918001GRCh37Chr 1, 21887619: 21887619
3ALPLNM_000478.4(ALPL): c.881A> C (p.Asp294Ala)single nucleotide variantPathogenicrs121918002GRCh37Chr 1, 21900176: 21900176
4ALPLNM_000478.4(ALPL): c.212G> C (p.Arg71Pro)single nucleotide variantPathogenicrs121918003GRCh37Chr 1, 21887620: 21887620
5ALPLNM_000478.4(ALPL): c.620A> C (p.Gln207Pro)single nucleotide variantPathogenicrs121918004GRCh37Chr 1, 21890681: 21890681
6ALPLNM_000478.4(ALPL): c.98C> T (p.Ala33Val)single nucleotide variantPathogenicrs121918005GRCh37Chr 1, 21887155: 21887155
7ALPLNM_000478.4(ALPL): c.1306T> C (p.Tyr436His)single nucleotide variantPathogenicrs121918006GRCh37Chr 1, 21903131: 21903131
8ALPLNM_000478.4(ALPL): c.892G> A (p.Glu298Lys)single nucleotide variantPathogenicrs121918017GRCh37Chr 1, 21900187: 21900187
9ALPLNM_000478.4(ALPL): c.571G> A (p.Glu191Lys)single nucleotide variantPathogenicrs121918007GRCh37Chr 1, 21890632: 21890632
10ALPLNM_000478.4(ALPL): c.1133A> T (p.Asp378Val)single nucleotide variantPathogenicrs121918008GRCh37Chr 1, 21902361: 21902361
11ALPLNM_000478.4(ALPL): c.1001G> A (p.Gly334Asp)single nucleotide variantPathogenicrs121918009GRCh37Chr 1, 21902229: 21902229
12ALPLNM_000478.4(ALPL): c.979T> C (p.Phe327Leu)single nucleotide variantPathogenicrs121918010GRCh37Chr 1, 21900274: 21900274
13ALPLNM_000478.4(ALPL): c.1559delT (p.Leu520Argfs)deletionPathogenicrs387906525GRCh37Chr 1, 21904125: 21904125
14ALPLNM_000478.4(ALPL): c.407G> A (p.Arg136His)single nucleotide variantPathogenicrs121918011GRCh37Chr 1, 21889712: 21889712
15ALPLNM_000478.4(ALPL): c.485G> T (p.Gly162Val)single nucleotide variantPathogenicrs121918012GRCh37Chr 1, 21890546: 21890546
16ALPLNM_000478.4(ALPL): c.346G> A (p.Ala116Thr)single nucleotide variantPathogenicrs121918013GRCh37Chr 1, 21889651: 21889651
17ALPLNM_000478.4(ALPL): c.1250A> G (p.Asn417Ser)single nucleotide variantPathogenicrs121918014GRCh37Chr 1, 21903075: 21903075
18ALPLNM_000478.4(ALPL): c.1366G> A (p.Gly456Arg)single nucleotide variantPathogenicrs121918016GRCh37Chr 1, 21903932: 21903932
19ALPLNM_000478.4(ALPL): c.746G> T (p.Gly249Val)single nucleotide variantPathogenicrs121918018GRCh37Chr 1, 21894694: 21894694
20ALPLNM_000478.4(ALPL): c.526G> A (p.Ala176Thr)single nucleotide variantPathogenicrs121918019GRCh37Chr 1, 21890587: 21890587
21ALPLNM_000478.4(ALPL): c.814C> T (p.Arg272Cys)single nucleotide variantPathogenicrs121918020GRCh37Chr 1, 21896819: 21896819

Expression for genes affiliated with Hypophosphatasia

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Expression patterns in normal tissues for genes affiliated with Hypophosphatasia

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Pathways for genes affiliated with Hypophosphatasia

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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 semialdehyde37
NAD salvage37
NAD metabolism60
8.1ENPP1, ALPI, ALPP, ALPL, ALPPL2

Compounds for genes affiliated with Hypophosphatasia

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Compounds related to Hypophosphatasia according to GeneCards/GeneDecks:

(show top 50)    (show all 97)
idCompoundScoreTop Affiliating Genes
1calcium carbonate449.8DSPP, CALCA, ALPP
2sodium fluoride449.8CALCA, ALPP, DSPP
3pmma449.7ALPP, CALCA, DSPP
4ipriflavone449.7SLPI, ALPP, CALCA
5etidronate449.7ALPP, SLPI, CALCA
6phosphoethanolamine449.6ALPL, ALPI, ALPP
7vitamin k2449.6ALPP, SLPI, CALCA
8risedronate44 50 28 61 1113.6CALCA, ALPP, SLPI
9titanium449.5RUNX2, SLPI, ALPP
10pyridinoline449.5ALPP, CALCA, SLPI
11amifostine44 1110.5ALPL, ENPP1, ALPPL2
12alizarin449.5ALPL, ALPP, SLPI, RUNX2
13tartrate449.4DSPP, CALCA, ALPP, SLPI
14fluoride449.4CALCA, DSPP, SLPI, ALPP
151,25 dihydroxy vitamin d3449.3ALPP, PHEX, CALCA, RUNX2
16p-nitrophenyl phosphate449.3ALPP, ALPI, SLPI
17phosphorus449.3CALCA, ALPP, PHEX, SLPI
18zoledronic acid449.3CALCA, ALPP, SLPI
1925-hydroxyvitamin d449.3ALPP, SLPI, CALCA
20hydrocortisone44 2 61 1112.3CALCA, ALPP, IL1R1, SLPI
21alendronate44 50 1111.2CALCA, RUNX2, DSPP, ALPP, SLPI
22ascorbic acid44 2410.1RUNX2, DSPP, IL1R1, ALPP, SLPI
23hydroxyproline44 24 1111.1KHDRBS3, SLPI, CALCA, ALPP
24cellulose acetate449.1IL1R1, ALPI, ALPP, SLPI
25calcitriol44 61 24 1112.0CALCA, ALPP, SLPI, DSPP, PHEX
261-Pentanol249.0ALPI, ALPPL2, ALPL
271-Hexanol249.0ALPPL2, ALPL, ALPI
28Isobutanol249.0ALPL, ALPPL2, ALPI
29levamisole44 1110.0SLPI, ALPPL2, ALPP, ALPL
30Propyl alcohol248.9ALPI, ALPPL2, ALPL
31Isopropyl alcohol248.9ALPI, ALPL, ALPPL2
321-Butanol248.9ALPPL2, ALPL, ALPI
337,8-dihydroneopterin44 249.8ALPI, ALPP, ALPPL2, ALPL
34dihydroneopterin triphosphate44 249.8ALPL, ALPI, ALPP, ALPPL2
35dihydroxyacetone44 249.8ALPP, ALPI, ALPPL2, ALPL
364-Nitrophenol248.8ALPI, ALPP, ALPL, ALPPL2
37Dihydroxyacetone phosphate248.8ALPP, ALPPL2, ALPL, ALPI
38deoxypyridinoline448.7CALCA, KHDRBS3, CCL27, ALPP, SLPI
39lactate448.6IL1R1, CALCA, ALPP, SLPI, DSPP
40aspartate448.6DSPP, CCL27, SLPI, PHEX, ALPP, ALPL
41pge2448.6SLPI, ALPP, CALCA, IL1R1, CCL27, RUNX2
42dexamethasone44 50 28 1111.4RUNX2, ENPP1, ALPP, CCL27, IL1R1, SLPI
43vitamin d448.3SLPI, PHEX, ALPP, ALPL, RUNX2, DSPP
44creatinine448.2SLPI, ALPI, ALPP, CALCA, IL1R1, CCL27
45butyrate448.2SLPI, ALPI, ALPP, ALPPL2, RUNX2
46estrogen448.1SLPI, ALPP, CALCA, IL1R1, DSPP, RUNX2
47alanine448.1CCL27, IL1R1, ALPP, KHDRBS3, SLPI, DSPP
48magnesium44 24 1110.0ALPPL2, IL1R1, ALPL, ALPP, SLPI, ALPI
49hydroxyapatite447.9ENPP1, SLPI, RUNX2, DSPP, CCL27, ALPL
50calcium44 50 24 119.0CALCA, RUNX2, SPTA1, SLPI, PHEX, ENPP1

GO Terms for genes affiliated with Hypophosphatasia

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Cellular components related to Hypophosphatasia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1anchored component of membraneGO:0312258.1ALPPL2, ALPL, ALPP, ALPI
2plasma membraneGO:0058867.5IL1R1, ALPPL2, ALPL, ALPP, ALPI, ENPP1

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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Sources for Hypophosphatasia

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet