MCID: HYP035
MIFTS: 64

Hypophosphatasia malady

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

Aliases & Classifications for Hypophosphatasia

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Sources:
9Disease Ontology, 19GeneReviews, 41NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 11DISEASES, 43Novoseek, 47Orphanet, 22GTR, 60UMLS, 38NCIt, 55SNOMED-CT, 33MeSH, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
See all sources

Hypophosphatasia, Aliases & Descriptions:

Name: Hypophosphatasia 9 19 41 20 21 11 43 47 22 60
Childhood Hypophosphatasia 9 41 60
Phosphoethanolaminuria 41 21 47
Deficiency of Alkaline Phosphatase 9 21
Hypophosphatasia Childhood 41 22
Rathburn Disease 41 47
Hpp 41 47
Autosomal Recessive Hypophosphatemic Bone Disease 60
 
Hyperpigmentation, Familial Progressive 60
Hereditary Pyropoikilocytosis 60
Hypophospatasia, Childhood 9
Infantile Hypophosphatasia 60
Phosphoethanol-Aminuria 41
Hypophosphatasia, Mild 43
Hypophosphatasia Mild 41
Hhrh 41


Classifications:



Characteristics (Orphanet epidemiological data):

47
hypophosphatasia:
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: 1-9/1000000 (Europe),1-9/1000000 (France),1-9/1000000 (United Kingdom),1-9/1000000 (Ireland),1-9/1000000 (Japan); Age of onset: All ages; Age of death: any age


External Ids:

Disease Ontology9 DOID:14213
NCIt38 C26798
MeSH33 D007014
Orphanet47 436
MESH via Orphanet34 D007014
ICD10 via Orphanet26 E83.3
UMLS via Orphanet61 C0020630

Summaries for Hypophosphatasia

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NIH Rare Diseases:41 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: 12/19/2014

MalaCards based summary: Hypophosphatasia, also known as childhood hypophosphatasia, is related to hypophosphatasia, infantile and periodontitis, and has symptoms including abnormality of the teeth, abnormality of the ribs and narrow chest. 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:63 Hypophosphatasia is a rare, and sometimes fatal metabolic bone disease. Clinical symptoms are... more...

GeneReviews summary for hops

Related Diseases for Hypophosphatasia

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Diseases in the Hypophosphatasia family:

Hypophosphatasia, Infantile Hypophosphatasia, Adult

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

(show top 50)    (show all 106)
idRelated DiseaseScoreTop Affiliating Genes
1hypophosphatasia, infantile31.4ALPP, ALPL
2periodontitis30.8SLPI, IL1R1
3cleidocranial dysplasia30.7RUNX2, ALPL
4periodontal disease30.6ALPP, DSPP, SLPI
5osteogenesis imperfecta30.6ALPL, ALPPL2, DSPP, ALPP
6pancreatitis30.5ALPL, ALPP, ALPPL2
7gingivitis30.5ALPP, DSPP
8hypercalcemia30.2ALPL, SLPI, ALPP, ALPPL2, CALCA
9renal osteodystrophy30.0ALPP, ALPL, SLPI, CALCA, ALPPL2
10psoriasis29.9SLPI, IL1R1, CCL27
11hyperphosphatemia29.9SLPI, ALPL, ALPP, ALPPL2, RUNX2
12hyperparathyroidism29.7ALPP, SLPI, PHEX, ALPL, CALCA, ALPPL2
13leukemia29.6ALPP, ALPPL2, SLPI, ALPL, IL1R1, RUNX2
14hypophosphatemia29.5PHEX, ALPL, ALPPL2, ALPP, CALCA, DSPP
15osteomalacia29.5CALCA, SLPI, ALPP, PHEX, ALPL, ALPPL2
16osteoarthritis29.4CALCA, DSPP, IL1R1, ENPP1, SLPI, RUNX2
17pulpitis10.5DSPP
18perinatal lethal hypophosphatasia10.4
19ankylosis10.4ENPP1
20hypophosphatasia, childhood10.4
21hypophosphatasia, adult10.4
22allergic contact dermatitis10.4CCL27, DSPP
23germ cell cancer10.4ALPP, ALPPL2
24endodermal sinus tumor10.4ALPP, ALPPL2
25gonadoblastoma10.3ALPPL2, ALPP
26osteitis fibrosa10.3ALPP, ALPL, ALPPL2
27bacterial vaginosis10.3IL1R1, SLPI
28hypokalemic periodic paralysis, type 110.3
29pyropoikilocytosis10.3
30hyperostosis, endosteal10.3ALPPL2, ALPP, ALPL
31acute respiratory distress syndrome10.3IL1R1, SLPI
32choledocholithiasis10.3ALPPL2, ALPP, ALPL
33osteonecrosis10.3ALPPL2, ALPL, ALPP
34cholelithiasis10.3ALPL, ALPP, ALPPL2
35cholangitis10.3ALPL, ALPP, ALPPL2
36bilirubin metabolic disorder10.3ALPL, ALPP, ALPPL2
37embryonal cancer10.3ALPPL2, ALPL, ALPP
38teratoma10.3ALPL, ALPP, ALPPL2
39skin disease10.3ALPPL2, ALPL, ALPP
40leukopenia10.3ALPL, ALPP, ALPPL2
41cryptorchidism10.3ALPPL2, ALPP
42inflammatory bowel disease10.3ALPL, ALPP, ALPPL2
43hypersensitivity reaction type ii disease10.3ALPP, ALPL, ALPPL2
44liver disease10.2ALPPL2, ALPL, ALPP
45hypophosphatemic rickets with hypercalciuria10.2
46vascular disease10.2ALPL, ALPPL2, ALPP
47pseudotumor cerebri10.2
48prenatal benign hypophosphatasia10.2
49childhood-onset hypophosphatasia10.2
50hypoparathyroidism10.2ALPP, CALCA

Graphical network of the top 20 diseases related to Hypophosphatasia:



Diseases related to hypophosphatasia

Symptoms for Hypophosphatasia

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Symptoms:

 47 (show all 20)
  • craniostenosis/craniosynostosis/sutural synostosis
  • 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
  • hypotonia
  • seizures/epilepsy/absences/spasms/status epilepticus
  • psychic/behavioural troubles
  • mutiple fractures/bone fragility
  • anaemia
  • hypercalcemia
  • stillbirth/neonatal death

HPO human phenotypes related to Hypophosphatasia:

(show all 16)
id Description Frequency HPO Source Accession
1 abnormality of the teeth hallmark (90%) HP:0000164
2 abnormality of the ribs hallmark (90%) HP:0000772
3 narrow chest hallmark (90%) HP:0000774
4 abnormality of the metaphyses hallmark (90%) HP:0000944
5 craniosynostosis hallmark (90%) HP:0001363
6 emphysema hallmark (90%) HP:0002097
7 short stature hallmark (90%) HP:0004322
8 bowing of the long bones hallmark (90%) HP:0006487
9 sacrococcygeal pilonidal abnormality hallmark (90%) HP:0010767
10 behavioral abnormality typical (50%) HP:0000708
11 seizures typical (50%) HP:0001250
12 muscular hypotonia typical (50%) HP:0001252
13 anemia typical (50%) HP:0001903
14 respiratory insufficiency typical (50%) HP:0002093
15 recurrent fractures typical (50%) HP:0002757
16 hypercalcemia typical (50%) HP:0003072

Drugs & Therapeutics for Hypophosphatasia

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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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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:

31
Bone, Skin, Lung, 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 452)
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
Evolutionary analysis of ALPL validates and predicts human mutations leading to hypophosphatasia. (24134978)
2012
10
Lack of sustained response to teriparatide in a patient with adult hypophosphatasia. (20089612)
2010
11
Orodental phenotype and genotype findings in all subtypes of hypophosphatasia. (19232125)
2009
12
Atypical femoral fractures, bisphosphonates, and adult hypophosphatasia. (19113923)
2009
13
Mild forms of hypophosphatasia mostly result from dominant negative effect of severe alleles or from compound heterozygosity for severe and moderate alleles. (19500388)
2009
14
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
15
Specific ultrasonographic features of perinatal lethal hypophosphatasia. (18386808)
2008
16
A new mechanism of dominance in hypophosphatasia: the mutated protein can disturb the cell localization of the wild-type protein. (18340466)
2008
17
Hyperechoic metaphyses in hypophosphatasia: what does it mean? (18084754)
2008
18
Therapy for hypophosphatasia]. (17906415)
2007
19
Aberrant interchain disulfide bridge of tissue-nonspecific alkaline phosphatase with an Arg433-->Cys substitution associated with severe hypophosphatasia. (17212778)
2006
20
Neonatal hypophosphatasia and seizures. A case report. (16205618)
2005
21
Characterization of 11 novel mutations in the tissue non-specific alkaline phosphatase gene responsible for hypophosphatasia and genotype-phenotype correlations. (15694177)
2005
22
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
23
Mutational analysis and functional correlation with phenotype in German patients with childhood-type hypophosphatasia. (11760847)
2001
24
A molecular approach to dominance in hypophosphatasia. (11479741)
2001
25
Comparison of serum catalytic activity and immunoreactivity of bone alkaline phosphatase in hypophosphatasia. (10727673)
2000
26
Hypophosphatasia: diagnostic application of linked DNA markers in the dominantly inherited adult form. (10369796)
1999
27
Expression of the mutant (1735T-DEL) tissue-nonspecific alkaline phosphatase gene from hypophosphatasia patients. (9844100)
1998
28
Defective intracellular transport of tissue-nonspecific alkaline phosphatase with an Ala162-->Thr mutation associated with lethal hypophosphatasia. (9562633)
1998
29
Adult hypophosphatasia in an aged patient. (9272313)
1997
30
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
31
Recurrent calcific periarthritis, erosive osteoarthritis and hypophosphatasia: a family study. (2290172)
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
Prenatal diagnosis of hypophosphatasia. (73053)
1977
40
Hypophosphatasia. Review of 24 cases. (1012798)
1976
41
The diagnosis of the early infantile form of hypophosphatasia tarda. (1150259)
1975
42
Fatal neonatal dwarfism: examples of thanatophoric dwarfism and of hypophosphatasia. (4618133)
1974
43
Hyperparathyroidism in an elderly adult with hypophosphatasia. (4837933)
1974
44
Hypophosphatasia. (5020955)
1972
45
Childhood hypophosphatasia. Clinical and cytogenetic studies. (4506889)
1972
46
Radiological case of the month. Hypophosphatasia in the newborn. (4327541)
1971
47
Phosphorylethanolamine and hypophosphatasia. (4306219)
1968
48
HYPOPHOSPHATASIA. A METABOLIC DISEASE WITH IMPORTANT DENTAL MANIFESTATIONS. (14230754)
1964
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 Variation 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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Search GEO for disease gene expression data for Hypophosphatasia.

Pathways for genes affiliated with Hypophosphatasia

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Pathways related to Hypophosphatasia according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.7RUNX2, ENPP1, ALPL
28.4ALPL, ALPP, ALPI, ALPPL2
3
Show member pathways
NAD biosynthesis from 2-amino-3-carboxymuconate semialdehyde36
NAD salvage36
NAD metabolism58
8.1ENPP1, ALPI, ALPP, ALPL, ALPPL2

Compounds for genes affiliated with Hypophosphatasia

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Compounds related to Hypophosphatasia according to GeneCards Suite gene sharing:

(show top 50)    (show all 97)
idCompoundScoreTop Affiliating Genes
1calcium carbonate439.8DSPP, CALCA, ALPP
2sodium fluoride439.8CALCA, ALPP, DSPP
3pmma439.7ALPP, CALCA, DSPP
4ipriflavone439.7SLPI, ALPP, CALCA
5etidronate439.7ALPP, SLPI, CALCA
6phosphoethanolamine439.6ALPL, ALPI, ALPP
7vitamin k2439.6ALPP, SLPI, CALCA
8risedronate43 49 28 59 1213.6CALCA, ALPP, SLPI
9titanium439.5RUNX2, SLPI, ALPP
10pyridinoline439.5ALPP, CALCA, SLPI
11amifostine43 1210.5ALPL, ENPP1, ALPPL2
12alizarin439.5ALPL, ALPP, SLPI, RUNX2
13tartrate439.4DSPP, CALCA, ALPP, SLPI
14fluoride439.4CALCA, DSPP, SLPI, ALPP
151,25 dihydroxy vitamin d3439.3ALPP, PHEX, CALCA, RUNX2
16p-nitrophenyl phosphate439.3ALPP, ALPI, SLPI
17phosphorus439.3CALCA, ALPP, PHEX, SLPI
18zoledronic acid439.3CALCA, ALPP, SLPI
1925-hydroxyvitamin d439.3ALPP, SLPI, CALCA
20hydrocortisone43 2 59 1212.3CALCA, ALPP, IL1R1, SLPI
21alendronate43 49 1211.2CALCA, RUNX2, DSPP, ALPP, SLPI
22ascorbic acid43 2410.1RUNX2, DSPP, IL1R1, ALPP, SLPI
23hydroxyproline43 24 1211.1KHDRBS3, SLPI, CALCA, ALPP
24cellulose acetate439.1IL1R1, ALPI, ALPP, SLPI
25calcitriol43 59 24 1212.0CALCA, ALPP, SLPI, DSPP, PHEX
261-Pentanol249.0ALPI, ALPPL2, ALPL
271-Hexanol249.0ALPPL2, ALPL, ALPI
28Isobutanol249.0ALPL, ALPPL2, ALPI
29levamisole43 1210.0SLPI, ALPPL2, ALPP, ALPL
30Propyl alcohol248.9ALPI, ALPPL2, ALPL
31Isopropyl alcohol248.9ALPI, ALPL, ALPPL2
321-Butanol248.9ALPPL2, ALPL, ALPI
337,8-dihydroneopterin43 249.8ALPI, ALPP, ALPPL2, ALPL
34dihydroneopterin triphosphate43 249.8ALPL, ALPI, ALPP, ALPPL2
35dihydroxyacetone43 249.8ALPP, ALPI, ALPPL2, ALPL
364-Nitrophenol248.8ALPI, ALPP, ALPL, ALPPL2
37Dihydroxyacetone phosphate248.8ALPP, ALPPL2, ALPL, ALPI
38deoxypyridinoline438.7CALCA, KHDRBS3, CCL27, ALPP, SLPI
39lactate438.6IL1R1, CALCA, ALPP, SLPI, DSPP
40aspartate438.6DSPP, CCL27, SLPI, PHEX, ALPP, ALPL
41pge2438.6SLPI, ALPP, CALCA, IL1R1, CCL27, RUNX2
42dexamethasone43 49 28 1211.4RUNX2, ENPP1, ALPP, CCL27, IL1R1, SLPI
43vitamin d438.3SLPI, PHEX, ALPP, ALPL, RUNX2, DSPP
44creatinine438.2SLPI, ALPI, ALPP, CALCA, IL1R1, CCL27
45butyrate438.2SLPI, ALPI, ALPP, ALPPL2, RUNX2
46estrogen438.1SLPI, ALPP, CALCA, IL1R1, DSPP, RUNX2
47alanine438.1CCL27, IL1R1, ALPP, KHDRBS3, SLPI, DSPP
48magnesium43 24 1210.0ALPPL2, IL1R1, ALPL, ALPP, SLPI, ALPI
49hydroxyapatite437.9ENPP1, SLPI, RUNX2, DSPP, CCL27, ALPL
50calcium43 49 24 129.0CALCA, RUNX2, SPTA1, SLPI, PHEX, ENPP1

GO Terms for genes affiliated with Hypophosphatasia

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

idNameGO IDScoreTop Affiliating Genes
1anchored component of membraneGO:00312258.1ALPPL2, ALPL, ALPP, ALPI
2plasma membraneGO:00058867.5IL1R1, ALPPL2, ALPL, ALPP, ALPI, ENPP1

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1biomineral tissue developmentGO:003121410.0DSPP, ENPP1
2negative regulation of ossificationGO:00302799.9CALCA, ENPP1
3regulation of inflammatory responseGO:00507279.8CALCA, IL1R1
4endochondral ossificationGO:00019589.8RUNX2, ALPL
5skeletal system developmentGO:00015019.7PHEX, ALPL, DSPP
6cell-cell signalingGO:00072678.9CCL27, CALCA, PHEX
7dephosphorylationGO:00163118.8ALPI, ALPPL2, ALPP

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

idNameGO IDScoreTop Affiliating Genes
1alkaline phosphatase activityGO:00040358.4ALPI, 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
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet