MCID: HYP035
MIFTS: 54

Hypophosphatasia malady

Categories: Genetic diseases, Rare diseases, Bone diseases, Fetal diseases, Oral diseases

Aliases & Classifications for Hypophosphatasia

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Sources:
10Disease Ontology, 21GeneReviews, 45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 47Novoseek, 12DISEASES, 51Orphanet, 36MeSH, 24GTR, 65UMLS, 27ICD10, 42NCIt, 59SNOMED-CT, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Hypophosphatasia:

Name: Hypophosphatasia 10 21 45 22 23 47 12 51 36 24 65
Childhood Hypophosphatasia 10 45 65
Phosphoethanolaminuria 45 23 51
Childhood-Onset Phosphoethanolaminuria 45 51
Deficiency of Alkaline Phosphatase 10 23
Childhood-Onset Hypophosphatasia 45 51
Childhood-Onset Rathburn Disease 45 51
Rathburn Disease 45 51
 
Hypophosphatasia Childhood Type 24
Hereditary Pyropoikilocytosis 65
Hypophospatasia, Childhood 10
Infantile Hypophosphatasia 65
Phosphoethanol-Aminuria 45
Hypophosphatasia, Mild 47
Hypophosphatasia Mild 45
Hpp 51

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

Classifications:



External Ids:

Disease Ontology10 DOID:14213
ICD1027 E83.39
NCIt42 C26798
Orphanet51 436, 247667
ICD10 via Orphanet28 E83.3
MESH via Orphanet37 D007014
UMLS via Orphanet66 C0020630, C0220743
UMLS65 C0020630, C0220743, C0268412 C0520739, more

Summaries for Hypophosphatasia

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NIH Rare Diseases:45 Childhood hypophosphatasia is a form of hypophosphatasia, a rare condition that affects the bones. childhood hypophosphatasia, specifically, is generally diagnosed when the condition develops after six months of age but before adulthood. signs and symptoms vary but may include delayed motor milestones; low bone mineral density for age; early loss of baby teeth (before age 5); bone and joint pain; short stature; a waddling gait; skeletal malformations; and/or unexplained broken bones. the forms of hypophosphatasia that develop during childhood are generally more mild than those that appear in infancy. childhood hypophosphatasia is caused by changes (mutations) in the alpl gene and can be inherited in an autosomal dominant or autosomal recessive manner. treatment is supportive and based on the signs and symptoms present in each person. recently an enzyme replacement therapy (ert) called asfotase alfa has been show to improve bone symptoms in people with childhood hypophosphatasia and has been approved by the fda. last updated: 3/22/2016

MalaCards based summary: Hypophosphatasia, also known as childhood hypophosphatasia, is related to hypophosphatasia, infantile and duodenogastric reflux, 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 Endochondral Ossification. Affiliated tissues include bone, lung and endothelial, and related mouse phenotype skeleton.

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 NBK1150

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 449)
idRelated DiseaseScoreTop Affiliating Genes
1hypophosphatasia, infantile34.5ALPL, ALPP
2duodenogastric reflux30.3ALPL, ALPP
3ossifying fibroma29.9ALPL, ALPP
4hypophosphatasia, adult12.6
5hypophosphatasia, childhood12.5
6perinatal lethal hypophosphatasia12.3
7prenatal benign hypophosphatasia12.3
8pyropoikilocytosis11.9
9anaerobic meningitis10.4ALPL, ALPP
10breast adenocarcinoma10.4ALPL, ALPP
11cervical adenitis10.4ALPL, ALPP
12internal auditory canal meningioma10.4ALPL, ALPP
13malignant histiocytosis10.4ALPL, ALPP
14angiostrongyliasis10.4ALPL, ALPP
15achondrogenesis10.4ALPL, ALPP
16postgastrectomy syndrome10.4ALPL, ALPP
17arteritic anterior ischemic optic neuropathy10.4ALPL, ALPP
18fibrogenesis imperfecta ossium10.4ALPL, ALPP
19mixed cell type adenoma of parathyroid10.4ALPL, ALPP
20xanthogranulomatous cholecystitis10.4ALPL, ALPP
21axial osteomalacia10.4ALPL, ALPP
22brawny scleritis10.4ALPL, ALPP
23ovary rhabdomyosarcoma10.4ALPL, ALPP
24pancreatic ductal carcinoma10.4ALPL, ALPP
25larynx carcinoma in situ10.4ALPL, ALPP
26swine influenza10.4ALPL, ALPP
27pericholangitis10.4ALPL, ALPP
28gingival disease10.4ALPL, ALPP
29macrocytic anemia10.4ALPL, ALPP
30pseudomyxoma peritonei10.4ALPL, ALPP
31skeletal muscle cancer10.4ALPL, ALPP
32testicular germ cell cancer10.4ALPL, ALPP
33bartholin's gland adenocarcinoma10.4ALPL, ALPP
34geotrichosis10.4ALPL, ALPP
35dendritic cell thymoma10.4ALPL, ALPP
36central nervous system germ cell tumor10.4ALPL, ALPP
37venezuelan hemorrhagic fever10.4ALPL, ALPP
38hemometra10.4ALPL, ALPP
39motor neuron disease10.4
40lateral sclerosis10.4
41diamond-blackfan anemia 410.4ALPL, ALPP
42alzheimer disease-210.4ALPL, ALPP
43paracoccidioidomycosis10.4ALPL, ALPP
44central nervous system sarcoma10.4ALPL, ALPP
45bile duct disease10.4ALPL, ALPP
46seminoma10.4ALPL, ALPP
47biliary tract disease10.4ALPL, ALPP
48leber congenital amaurosis 310.4ALPL, ALPP
49uremia10.4ALPL, ALPP
50splenic flexure cancer10.4ALPL, 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 20)
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)Active, not recruitingNCT01176266Phase 2, Phase 3
3Safety and Efficacy Study of Asfotase Alfa in Severely Affected Infants With Hypophosphatasia (HPP)CompletedNCT00744042Phase 1, Phase 2
4Dose Escalation Study to Evaluate the Safety and Tolerability of Multiple Infusions of BPS804 in Adults With Hypophosphatasia (HPP)CompletedNCT01406977Phase 2
5Safety and Efficacy of Asfotase Alfa in Juvenile Patients With Hypophosphatasia (HPP)CompletedNCT00952484Phase 2
6Safety and Efficacy of Asfotase Alfa in Patients With Hypophosphatasia (HPP)CompletedNCT02456038Phase 2
7Safety and Efficacy Study of Asfotase Alfa in Adolescents and Adults With Hypophosphatasia (HPP)Active, not recruitingNCT01163149Phase 2
8Extension Study of Protocol ENB-002-08 - Study of Asfotase Alfa in Infants and Young Children With Hypophosphatasia (HPP)Active, not recruitingNCT01205152Phase 2
9Extension Study of Protocol ENB-006-09 - Study of Asfotase Alfa in Children With Hypophosphatasia (HPP)Active, not recruitingNCT01203826Phase 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
20Health Burden of HypophosphatasiaNot yet recruitingNCT02751801

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 ALPL

Anatomical Context for Hypophosphatasia

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MalaCards organs/tissues related to Hypophosphatasia:

33
Bone, Lung, Endothelial, T cells, Heart, Breast, Kidney

Animal Models for Hypophosphatasia or affiliated genes

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MGI Mouse Phenotypes related to Hypophosphatasia:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053907.8ALPL, ANKH, ENPP1, PHEX, SPTA1

Publications for Hypophosphatasia

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Articles related to Hypophosphatasia:

(show top 50)    (show all 476)
idTitleAuthorsYear
1
Moyamoya disease: A comparison of long term outcome of conservative and surgical treatment in India. (24183032)
2014
2
"Sprinkle brightness lesion" appearance in ultrasound B-mode findings of sinusoidal hemangioma. (25355051)
2014
3
Cerebral amyloid angiopathy: amyloid spells and cortical superficial siderosis. (25359331)
2014
4
The lymphoscintigraphic manifestation of (99m)Tc-dextran lymphatic imaging in primary intestinal lymphangiectasia. (24488065)
2014
5
Atrial electromechanical delay in type 2 diabetes mellitus. (24424433)
2014
6
The Epidemiology of Microscopic Colitis in Olmsted County From 2002 to 2010: A Population-Based Study. (24120840)
2013
7
Preoperative cardiac evaluation by dipyridamole thallium-201 myocardial perfusion scan provides no benefit in patients with abdominal aortic aneurysm. (23995459)
2013
8
A field trial of infrared thermography as a non-invasive diagnostic tool for early detection of digital dermatitis in dairy cows. (24389042)
2013
9
Preventive Effects of Selenium Yeast, Chromium Picolinate, Zinc Sulfate and their Combination on Oxidative Stress, Inflammation, Impaired Angiogenesis and Atherogenesis in Myocardial Infarction in Rats. (24393559)
2013
10
T1rho MRI of menisci in patients with osteoarthritis at 3 Tesla: A preliminary study. (24395433)
2013
11
KIT proto-oncogene exon 8 deletions at codon 419 are highly frequent in acute myeloid leukaemia with inv(16) in Indian population. (22825855)
2013
12
Surgical treatment for a complex congenital arteriovenous malformation of the lower limb. (24391339)
2013
13
Over-expression of tumor necrosis factor-I+ in vitiligo lesions after narrow-band UVB therapy: an immunohistochemical study. (22832941)
2012
14
Bilateral scleritis and sclerokeratitis associated with IgA nephropathy. (22411460)
2012
15
Minimizing health risks among older adults with intellectual and/or developmental disabilities: clinical considerations to promote quality of life. (22587644)
2012
16
Endogenous HMGB1 contributes to ischemia-reperfusion-induced myocardial apoptosis by potentiating the effect of TNF-α/JNK. (21186276)
2011
17
Efficacy of blood-patch pleurodesis for secondary spontaneous pneumothorax in interstitial lung disease. (21628929)
2011
18
Molecular mechanistic insights into the endothelial receptor mediated cytoadherence of Plasmodium falciparum-infected erythrocytes. (21437286)
2011
19
Weighing the evidence for newborn screening for early-infantile Krabbe disease. (20601893)
2010
20
Relationship between cystatin C and coronary artery atherosclerosis progression differs by type 1 diabetes. (20082582)
2010
21
An insulator element 3' to the CFTR gene binds CTCF and reveals an active chromatin hub in primary cells. (19129223)
2009
22
Double-blind placebo-controlled provocation study in patients with subjective Multiple Chemical Sensitivity (MCS) and matched control subjects. (18568800)
2008
23
Elevation of CSF tumor necrosis factor alpha levels in new daily persistent headache and treatment refractory chronic migraine. (17635596)
2007
24
Oncostatin M enhances CCL21 expression by microvascular endothelial cells and increases the efficiency of dendritic cell trafficking to lymph nodes. (17114436)
2006
25
CEACAM1, an adhesion molecule of human granulocytes, is fucosylated by fucosyltransferase IX and interacts with DC-SIGN of dendritic cells via Lewis x residues. (16282604)
2006
26
The use of the "tamponade test" to stop massive obstetric haemorrhage in placenta accreta. (15842298)
2005
27
Ethical implications of predictive DNA testing for hereditary breast cancer. (15280191)
2004
28
The relationship between age and production of tumour necrosis factor-alpha in healthy volunteers and patients with chronic heart failure. (12957752)
2003
29
Binding and transport in norepinephrine transporters. Real-time, spatially resolved analysis in single cells using a fluorescent substrate. (12499385)
2003
30
Multiple biomarkers study in painters in a shipyard in Korea. (12972061)
2003
31
Candidate tumour suppressor genes at 11q23-q24 in breast cancer: evidence of alterations in PIG8, a gene involved in p53-induced apoptosis. (11753653)
2001
32
Comparison of SP-A and LPS effects on the THP-1 monocytic cell line. (10893209)
2000
33
Structural and functional properties of membrane and secreted IgD. (11282392)
2000
34
Expression of prolactin and its receptor in the baboon uterus during the menstrual cycle and pregnancy. (10487709)
1999
35
Use of factor IX complex in warfarin-related intracranial hemorrhage. (10549927)
1999
36
Assessment & treatment of persons with pedophilia. (10618773)
1999
37
Syndrome of inappropriate secretion of antidiuretic hormone in nasopharynx carcinoma. (9260257)
1997
38
Abnormalities of somatosensory and motor evoked potentials in adrenomyeloneuropathy: comparison with magnetic resonance imaging and clinical findings. (9324081)
1997
39
Failure to achieve adequate serum levels with monthly replacement therapy in alpha 1-antitrypsin deficiency. (7774374)
1994
40
Chronic, combined treatment with desipramine and mianserin: enhanced 5-HT1A receptor function and altered 5-HT1A/5-HT2 receptor interaction in rats. (8415816)
1993
41
Identification of patients with impaired hepatic drug metabolism using a limited sampling procedure for estimation of phenazone (antipyrine) pharmacokinetic parameters. (8491059)
1993
42
Essential thrombocythemia developing into refractory anemia and complicated by acute myeloid leukemia. (1286233)
1992
43
Pseudohypoaldosteronism: decreased aldosterone levels with age without significant change in urinary sodium excretion. (3519007)
1986
44
Epidemiology of congenital rubella and results of rubella vaccination in Australia. (3890106)
1985
45
Application of electron immunocytochemistry to the study of distribution of myelin-associated glycoprotein in the early period of Wallerian degeneration in the optic system. (6363972)
1983
46
IgM cryoprecipitation and anti-immunoglobulin activity in dysgammaglobulinemia type I. (6980073)
1982
47
An example of polyploidy in pig blastocysts. (1195246)
1975
48
Congenital epulis. (4340239)
1972
49
Female non-adrenal pseudohermaphroditism. (13605771)
1958
50

Variations for Hypophosphatasia

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Clinvar genetic disease variations for Hypophosphatasia:

5
id Gene Variation Type Significance SNP ID Assembly Location
1ALPLNM_000478.5(ALPL): c.571G> A (p.Glu191Lys)single nucleotide variantPathogenicrs121918007GRCh37Chr 1, 21890632: 21890632
2ALPLNM_000478.5(ALPL): c.1133A> T (p.Asp378Val)single nucleotide variantPathogenicrs121918008GRCh37Chr 1, 21902361: 21902361
3ALPLNM_000478.5(ALPL): c.1001G> A (p.Gly334Asp)single nucleotide variantPathogenicrs121918009GRCh37Chr 1, 21902229: 21902229
4ALPLNM_000478.5(ALPL): c.979T> C (p.Phe327Leu)single nucleotide variantPathogenicrs121918010GRCh37Chr 1, 21900274: 21900274
5ALPLNM_000478.5(ALPL): c.1559delT (p.Leu520Argfs)deletionPathogenicrs387906525GRCh37Chr 1, 21904125: 21904125

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 pathwaysScoreTop Affiliating Genes
19.8ALPL, ALPP
29.7ALPL, ENPP1
3
Show member pathways
9.3ALPL, ALPP, ENPP1

GO Terms for genes affiliated with Hypophosphatasia

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

idNameGO IDScoreTop Affiliating Genes
1inorganic diphosphate transportGO:00305059.2ANKH, ENPP1

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