MCID: HYP035
MIFTS: 58

Hypophosphatasia malady

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

Aliases & Classifications for Hypophosphatasia

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Sources:
10Disease Ontology, 21GeneReviews, 45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 47Novoseek, 12DISEASES, 51Orphanet, 24GTR, 65UMLS, 36MeSH, 59SNOMED-CT, 42NCIt, 66UMLS via Orphanet, 28ICD10 via Orphanet, 37MESH via Orphanet
See all sources

Aliases & Descriptions for Hypophosphatasia:

Name: Hypophosphatasia 10 21 45 22 23 47 12 51 24 65 36
Childhood Hypophosphatasia 10 45 65
Deficiency of Alkaline Phosphatase 10 23
Hypophosphatasia Childhood 45 24
Phosphoethanolaminuria 23 51
Autosomal Recessive Hypophosphatemic Bone Disease 65
Hyperpigmentation, Familial Progressive 65
Hereditary Pyropoikilocytosis 65
 
Hypophospatasia, Childhood 10
Infantile Hypophosphatasia 65
Phosphoethanol-Aminuria 45
Hypophosphatasia, Mild 47
Hypophosphatasia Mild 45
Rathburn Disease 51
Hhrh 45
Hpp 51


Classifications:



Characteristics (Orphanet epidemiological data):

51
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 Ontology10 DOID:14213
NCIt42 C26798
MeSH36 D007014
Orphanet51 436
UMLS via Orphanet66 C0020630
ICD10 via Orphanet28 E83.3
MESH via Orphanet37 D007014

Summaries for Hypophosphatasia

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NIH Rare Diseases:45 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 bone structure disease, 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 Folate biosynthesis and NAD metabolism. Affiliated tissues include bone, skin and lung, and related mouse phenotypes are craniofacial and liver/biliary system.

Genetics Home Reference:23 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:68 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 164)
idRelated DiseaseScoreTop Affiliating Genes
1hypophosphatasia, infantile31.3ALPL, ALPP
2bone structure disease31.1ALPL, ALPP, RUNX2
3cleidocranial dysplasia30.4ALPP, RUNX2
4physical disorder30.0ALPL, ALPP, ENPP1, PHEX
5hypophosphatasia, adult10.6
6metal metabolism disorder10.6
7metabolic syndrome x10.5
8marchiafava bignami disease10.5
9osteomalacia10.5
10rickets10.5
11secondary syphilis10.5
12hypophosphatasia, childhood10.5
13perinatal lethal hypophosphatasia10.5
14periodontitis10.4
15hypophosphatemic rickets with hypercalciuria10.4
16submucous uterine fibroid10.3ALPL, ALPP
17gonadoblastoma10.3ALPL, ALPP
18kidney fibrosarcoma10.3ALPL, ALPP
19cerebellopontine angle primitive neuroectodermal10.3ALPL, ALPP
20somatoform disorder10.3ALPL, ALPP
21stickler syndrome10.3ALPL, ALPP
22thelaziasis10.3ALPL, ALPP
23craniodiaphyseal dysplasia10.3ALPL, ALPP
24malignant glandular tumor of peripheral nerve sheath10.3ALPL, ALPP
25physiological polycythemia10.3ALPL, ALPP
26fibrosarcomatous osteosarcoma10.3ALPL, ALPP
27colorectal adenocarcinoma10.3ALPL, ALPP
28fallopian tube mucinous adenocarcinoma10.3ALPL, ALPP
29esophageal varix10.3ALPL, ALPP
30fascioliasis10.3ALPL, ALPP
31tinea manuum10.3ALPL, ALPP
32esophagus leiomyoma10.3ALPL, ALPP
33corpus luteum cyst10.3ALPL, ALPP
34factor viii deficiency10.3ALPL, ALPP
35multiple spinal canal and spinal cord meningioma10.3ALPL, ALPP
36dysentery10.3ALPL, ALPP
37gender identity disorder10.3ALPL, ALPP
38pyeloureteritis cystica10.3ALPL, ALPP
39prostate leiomyoma10.3ALPL, ALPP
40invasive malignant thymoma10.3ALPL, ALPP
41central nervous system hereditary degenerative disease10.3ALPL, ALPP
42lujo hemorrhagic fever10.3ALPL, ALPP
43acinic cell breast carcinoma10.3ALPL, ALPP
44gamma-amino butyric acid metabolism disorder10.3ALPL, ALPP
45diamond-blackfan anemia 410.3ALPL, ALPP
46alzheimer disease-210.3ALPL, ALPP
47tabes dorsalis10.3ALPL, ALPP
48central nervous system germinoma10.3ALPL, ALPP
49communicating hydrocephalus10.3ALPL, ALPP
50childhood kidney angiomyolipoma10.3ALPL, ALPP

Graphical network of the top 20 diseases related to Hypophosphatasia:



Diseases related to hypophosphatasia

Symptoms for Hypophosphatasia

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Symptoms:

 51 (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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Interventional clinical trials:

(show all 19)
idNameStatusNCT IDPhase
1Post-approval Clinical Study of Asfotase Alfa Treatment for Patients With Hypophosphatasia (HPP) in JapanActive, not recruitingNCT02531867Phase 4
2Open-Label Study of Asfotase Alfa in Infants and Children ≤ 5 Years of Age With Hypophosphatasia (HPP)RecruitingNCT01176266Phase 2, Phase 3
3Safety and Efficacy of Asfotase Alfa in Juvenile Patients With Hypophosphatasia (HPP)CompletedNCT00952484Phase 2
4Safety and Efficacy Study of Asfotase Alfa in Severely Affected Infants With Hypophosphatasia (HPP)CompletedNCT00744042Phase 1, Phase 2
5Dose Escalation Study to Evaluate the Safety and Tolerability of Multiple Infusions of BPS804 in Adults With Hypophosphatasia (HPP)CompletedNCT01406977Phase 2
6Safety and Efficacy Study of Asfotase Alfa in Adolescents and Adults With Hypophosphatasia (HPP)Active, not recruitingNCT01163149Phase 2
7Extension Study of Protocol ENB-002-08 - Study of Asfotase Alfa in Infants and Young Children With Hypophosphatasia (HPP)Active, not recruitingNCT01205152Phase 2
8Extension Study of Protocol ENB-006-09 - Study of Asfotase Alfa in Children With Hypophosphatasia (HPP)Active, not recruitingNCT01203826Phase 2
9Safety and Efficacy of Asfotase Alfa in Patients With Hypophosphatasia (HPP)Enrolling by invitationNCT02456038Phase 2
10Safety and Efficacy Study of ENB-0040 in Juvenile Patients With Hypophosphatasia (HPP)WithdrawnNCT00894075Phase 2
11Safety Study of Human Recombinant Tissue Non-Specific Alkaline Phosphatase Fusion Protein Asfotase Alfa in Adults With Hypophosphatasia (HPP)CompletedNCT00739505Phase 1
12Expanded Access Program for Asfotase Alfa Treatment for Patients With Infantile- or Juvenile-onset Hypophosphatasia (HPP)Approved for marketingNCT02496689
13A Retrospective Study of the Natural History of Patients With Severe Perinatal and Infantile Hypophosphatasia (HPP)CompletedNCT01419028
14Retrospective, Non-interventional Natural History of Patients With Juvenile-onset Hypophosphatasia (HPP)CompletedNCT02104219
15Non-interventional Substudy of ALX-HPP-502 to Assess Natural History of Patients With Juvenile-onset HPP Who Served as Historical Controls in ENB-006-09CompletedNCT02235493
16Biomarker for Hypophosphatasia DiseaseRecruitingNCT02603042
17Natural History Study of Patients With Hypophosphatasia (HPP)RecruitingNCT02237625
18Burden of Disease in Hypophosphatasia (HPP)RecruitingNCT02291497
19An Observational, Longitudinal, Prospective, Long-Term Registry Of Patients With Hypophosphatasia (HPP)Enrolling by invitationNCT02306720

Search NIH Clinical Center for Hypophosphatasia


Cochrane evidence based reviews: Hypophosphatasia

Genetic Tests for Hypophosphatasia

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Genetic tests related to Hypophosphatasia:

id Genetic test Affiliating Genes
1 Hypophosphatasia22 24 ALPL
2 Childhood Hypophosphatasia24

Anatomical Context for Hypophosphatasia

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MalaCards organs/tissues related to Hypophosphatasia:

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

Animal Models for Hypophosphatasia or affiliated genes

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MGI Mouse Phenotypes related to Hypophosphatasia:

38 (show all 13)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053828.7ALPL, ANKH, DSPP, PHEX, RUNX2
2MP:00053708.6ANKH, ENPP1, RUNX2, SPP1, SPTA1
3MP:00053678.6ANKH, ENPP1, PHEX, SPP1, SPTA1
4MP:00053888.4ALPL, ANKH, RUNX2, SPP1, SPTA1
5MP:00053898.0ALPL, ALPP, ANKH, RUNX2, SPP1, SPTA1
6MP:00053697.6ALPL, ANKH, ENPP1, PHEX, PLCB4, RUNX2
7MP:00036317.5ALPL, ENPP1, PHEX, PLCB4, RUNX2, SPP1
8MP:00053867.5ALPL, ANKH, ENPP1, PHEX, PLCB4, SPP1
9MP:00053907.4ALPL, ANKH, ENPP1, PHEX, PLCB4, RUNX2
10MP:00053857.4ALPL, ANKH, DLX3, ENPP1, RUNX2, SPP1
11MP:00053877.2ALPL, ANKH, ENPP1, PHEX, RUNX2, SPP1
12MP:00107686.1ALPL, ALPP, ANKH, DLX3, ENPP1, PHEX
13MP:00053786.0ALPL, ALPP, ANKH, DLX3, ENPP1, PHEX

Publications for Hypophosphatasia

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Articles related to Hypophosphatasia:

(show top 50)    (show all 476)
idTitleAuthorsYear
1
Molecular diagnosis of hypophosphatasia and differential diagnosis by targeted Next Generation Sequencing. (26432670)
2015
2
Enzyme replacement for craniofacial skeletal defects and craniosynostosis in murine hypophosphatasia. (25959417)
2015
3
Enzyme replacement therapy for congenital hypophosphatasia allows for surgical treatment of related complex craniosynostosis: a case series. (25929963)
2015
4
Hypophosphatasia: an overview of the disease and its treatment. (26245849)
2015
5
Prenatal diagnosis of hypophosphatasia congenita using ultrasonography. (25971898)
2015
6
Lethal hypophosphatasia successfully treated with enzyme replacement from day 1 after birth. (26459154)
2015
7
Infantile hypophosphatasia without bone deformities presenting with severe pyridoxine-resistant seizures. (24100244)
2013
8
Infantile hypophosphatasia secondary to a novel compound heterozygous mutation presenting with pyridoxine-responsive seizures. (23479201)
2013
9
Did Tutankhamun suffer from hypophosphatasia?--A hypothetical approach. (24466636)
2013
10
Hypophosphatasia-associated deficiencies in mineralization and gene expression in cultured dental pulp cells obtained from human teeth. (22703652)
2012
11
Bone quality changes in 3 cases of hypophosphatasia: a FTIRI study. (24134971)
2012
12
In silico scoring of ALPL gene mutations help to distinguish severe and moderate phenotypes in hypophosphatasia. (24134979)
2012
13
Lack of sustained response to teriparatide in a patient with adult hypophosphatasia. (20089612)
2010
14
Orodental phenotype and genotype findings in all subtypes of hypophosphatasia. (19232125)
2009
15
Atypical femoral fractures, bisphosphonates, and adult hypophosphatasia. (19113923)
2009
16
Mild forms of hypophosphatasia mostly result from dominant negative effect of severe alleles or from compound heterozygosity for severe and moderate alleles. (19500388)
2009
17
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
18
Specific ultrasonographic features of perinatal lethal hypophosphatasia. (18386808)
2008
19
A new mechanism of dominance in hypophosphatasia: the mutated protein can disturb the cell localization of the wild-type protein. (18340466)
2008
20
Therapy for hypophosphatasia]. (17906415)
2007
21
Neonatal hypophosphatasia and seizures. A case report. (16205618)
2005
22
Characterization of 11 novel mutations in the tissue non-specific alkaline phosphatase gene responsible for hypophosphatasia and genotype-phenotype correlations. (15694177)
2005
23
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
24
Mutational analysis and functional correlation with phenotype in German patients with childhood-type hypophosphatasia. (11760847)
2001
25
A molecular approach to dominance in hypophosphatasia. (11479741)
2001
26
Comparison of serum catalytic activity and immunoreactivity of bone alkaline phosphatase in hypophosphatasia. (10727673)
2000
27
Hypophosphatasia: diagnostic application of linked DNA markers in the dominantly inherited adult form. (10369796)
1999
28
Expression of the mutant (1735T-DEL) tissue-nonspecific alkaline phosphatase gene from hypophosphatasia patients. (9844100)
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
Increased plasma pyridoxal-5'-phosphate levels before and after pyridoxine loading in carriers of perinatal/infantile hypophosphatasia. (2079838)
1990
33
Hyperphosphatemia in infantile hypophosphatasia: implications for carrier diagnosis and screening. (2301398)
1990
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: a genetic study. (14490519)
1961
50
HYPOPHOSPHATASIA. (13575173)
1958

Variations for Hypophosphatasia

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Clinvar genetic disease variations for Hypophosphatasia:

5 (show all 34)
id Gene Variation Type Significance SNP ID Assembly Location
1SPTA1NM_003126.2(SPTA1): c.135G> T (p.Arg45Ser)single nucleotide variantPathogenicrs121918637GRCh37Chr 1, 158655027: 158655027
2SPTA1NM_003126.2(SPTA1): c.82C> A (p.Arg28Ser)single nucleotide variantPathogenicrs121918642GRCh37Chr 1, 158655080: 158655080
3SPTA1NM_003126.2(SPTA1): c.82C> T (p.Arg28Cys)single nucleotide variantPathogenicrs121918642GRCh37Chr 1, 158655080: 158655080
4SPTA1NM_003126.2(SPTA1): c.83G> A (p.Arg28His)single nucleotide variantPathogenicrs121918641GRCh37Chr 1, 158655079: 158655079
5SPTA1NM_003126.2(SPTA1): c.620T> C (p.Leu207Pro)single nucleotide variantPathogenicrs121918643GRCh37Chr 1, 158650431: 158650431
6ALPLNM_000478.4(ALPL): c.535G> A (p.Ala179Thr)single nucleotide variantLikely pathogenic, Pathogenicrs121918000GRCh37Chr 1, 21890596: 21890596
7ALPLNM_000478.4(ALPL): c.211C> T (p.Arg71Cys)single nucleotide variantPathogenicrs121918001GRCh37Chr 1, 21887619: 21887619
8ALPLNM_000478.4(ALPL): c.881A> C (p.Asp294Ala)single nucleotide variantPathogenicrs121918002GRCh37Chr 1, 21900176: 21900176
9ALPLNM_000478.4(ALPL): c.212G> C (p.Arg71Pro)single nucleotide variantPathogenicrs121918003GRCh37Chr 1, 21887620: 21887620
10ALPLNM_000478.4(ALPL): c.620A> C (p.Gln207Pro)single nucleotide variantPathogenicrs121918004GRCh37Chr 1, 21890681: 21890681
11ALPLNM_000478.4(ALPL): c.98C> T (p.Ala33Val)single nucleotide variantPathogenicrs121918005GRCh37Chr 1, 21887155: 21887155
12ALPLNM_000478.4(ALPL): c.1306T> C (p.Tyr436His)single nucleotide variantPathogenicrs121918006GRCh37Chr 1, 21903131: 21903131
13ALPLNM_000478.4(ALPL): c.892G> A (p.Glu298Lys)single nucleotide variantPathogenicrs121918017GRCh37Chr 1, 21900187: 21900187
14ALPLNM_000478.4(ALPL): c.571G> A (p.Glu191Lys)single nucleotide variantPathogenicrs121918007GRCh37Chr 1, 21890632: 21890632
15ALPLNM_000478.4(ALPL): c.1133A> T (p.Asp378Val)single nucleotide variantPathogenicrs121918008GRCh37Chr 1, 21902361: 21902361
16ALPLNM_000478.4(ALPL): c.1001G> A (p.Gly334Asp)single nucleotide variantPathogenicrs121918009GRCh37Chr 1, 21902229: 21902229
17ALPLNM_000478.4(ALPL): c.979T> C (p.Phe327Leu)single nucleotide variantPathogenicrs121918010GRCh37Chr 1, 21900274: 21900274
18ALPLNM_000478.4(ALPL): c.1559delT (p.Leu520Argfs)deletionPathogenicrs387906525GRCh37Chr 1, 21904125: 21904125
19ALPLNM_000478.4(ALPL): c.407G> A (p.Arg136His)single nucleotide variantLikely pathogenic, Pathogenicrs121918011GRCh37Chr 1, 21889712: 21889712
20ALPLNM_000478.4(ALPL): c.485G> T (p.Gly162Val)single nucleotide variantPathogenicrs121918012GRCh37Chr 1, 21890546: 21890546
21ALPLNM_000478.4(ALPL): c.346G> A (p.Ala116Thr)single nucleotide variantLikely pathogenic, Pathogenicrs121918013GRCh37Chr 1, 21889651: 21889651
22ALPLNM_000478.4(ALPL): c.1250A> G (p.Asn417Ser)single nucleotide variantLikely pathogenic, Pathogenicrs121918014GRCh37Chr 1, 21903075: 21903075
23ALPLNM_000478.4(ALPL): c.1366G> A (p.Gly456Arg)single nucleotide variantPathogenicrs121918016GRCh37Chr 1, 21903932: 21903932
24ALPLNM_000478.4(ALPL): c.746G> T (p.Gly249Val)single nucleotide variantPathogenicrs121918018GRCh37Chr 1, 21894694: 21894694
25ALPLNM_000478.4(ALPL): c.526G> A (p.Ala176Thr)single nucleotide variantPathogenicrs121918019GRCh37Chr 1, 21890587: 21890587
26ALPLNM_000478.4(ALPL): c.814C> T (p.Arg272Cys)single nucleotide variantPathogenicrs121918020GRCh37Chr 1, 21896819: 21896819
27ALPLNM_000478.4(ALPL): c.791A> G (p.Lys264Arg)single nucleotide variantLikely pathogenicrs786204442GRCh38Chr 1, 21568246: 21568246
28ALPLNM_000478.4(ALPL): c.871G> A (p.Glu291Lys)single nucleotide variantLikely pathogenicrs786204473GRCh38Chr 1, 21573673: 21573673
29ALPLNM_000478.4(ALPL): c.542C> T (p.Ser181Leu)single nucleotide variantLikely pathogenicrs199590449GRCh37Chr 1, 21890603: 21890603
30ALPLNM_000478.4(ALPL): c.400_401delACinsCA (p.Thr134His)indelLikely pathogenicrs786204530GRCh38Chr 1, 21563212: 21563213
31ALPLNM_000478.4(ALPL): c.215T> C (p.Ile72Thr)single nucleotide variantLikely pathogenicrs781264043GRCh37Chr 1, 21887623: 21887623
32ALPLNM_000478.4(ALPL): c.667C> T (p.Arg223Trp)single nucleotide variantLikely pathogenicrs766076920GRCh37Chr 1, 21894615: 21894615
33ALPLNM_000478.4(ALPL): c.809G> A (p.Trp270Ter)single nucleotide variantLikely pathogenicrs786204634GRCh37Chr 1, 21896814: 21896814
34ALPLNM_000478.4(ALPL): c.891C> A (p.Tyr297Ter)single nucleotide variantLikely pathogenicrs755529290GRCh38Chr 1, 21573693: 21573693

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
19.9ALPL, ALPP
2
Show member pathways
9.5ALPL, ALPP, ENPP1
39.0PLCB4, RUNX2, SPP1
48.9ALPL, ENPP1, RUNX2, SPP1

GO Terms for genes affiliated with Hypophosphatasia

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

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1inorganic diphosphate transportGO:003050510.1ANKH, ENPP1
2response to vitamin DGO:00332809.8ALPL, SPP1
3regulation of bone mineralizationGO:00305009.7ANKH, ENPP1
4biomineral tissue developmentGO:00312149.7DSPP, ENPP1, SPP1
5endochondral ossificationGO:00019589.4ALPL, RUNX2
6osteoblast differentiationGO:00016499.3ALPL, RUNX2, SPP1
7ossificationGO:00015039.0DSPP, RUNX2, SPP1
8skeletal system developmentGO:00015018.3ALPL, ANKH, DSPP, PHEX, RUNX2

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

idNameGO IDScoreTop Affiliating Genes
1alkaline phosphatase activityGO:00040359.9ALPL, ALPP

Sources for Hypophosphatasia

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet