MCID: HYP035
MIFTS: 58

Hypophosphatasia

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

Aliases & Classifications for Hypophosphatasia

MalaCards integrated aliases for Hypophosphatasia:

Name: Hypophosphatasia 12 76 24 53 25 59 37 29 55 6 44 15 73
Phosphoethanolaminuria 53 25 59
Deficiency of Alkaline Phosphatase 12 25
Childhood Hypophosphatasia 12 73
Rathburn Disease 53 59
Hypophosphatasia, Childhood 44
Infantile Hypophosphatasia 73
Hypophospatasia, Childhood 12
Phosphoethanol-Aminuria 53
Hypophosphatasia Mild 53
Hpp 59

Characteristics:

Orphanet epidemiological data:

59
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;

Classifications:



External Ids:

Disease Ontology 12 DOID:14213
ICD10 33 E83.39
NCIt 50 C26798
Orphanet 59 ORPHA436
MESH via Orphanet 45 D007014
UMLS via Orphanet 74 C0020630
ICD10 via Orphanet 34 E83.3
KEGG 37 H00213

Summaries for Hypophosphatasia

NIH Rare Diseases : 53 Hypophosphatasia (HPP) is a genetic condition that causes abnormal development of the bones and teeth. The severity of HPP can vary widely, from fetal death to fractures that don't begin until adulthood. Signs and symptoms may include poor feeding and respiratory problems in infancy; short stature; weak and soft bones; short limbs; other skeletal abnormalities; and hypercalcemia. Complications can be life-threatening. The mildest form of the condition, called odontohypophosphatasia, only affects the teeth. HPP is caused by mutations in the ALPL gene. Perinatal (onset before birth) and infantile HPP are inherited in an autosomal recessive manner. The milder forms, especially adult forms and odontohypophosphatasia, may be inherited in an autosomal recessive or autosomal dominant manner. While treatment has always been symptomatic and supportive, recently an enzyme replacement therapy (ERT) called asfotase alfa has been show to improve bone manifestations people with childhood onset HPP and has been approved by the FDA.

MalaCards based summary : Hypophosphatasia, also known as phosphoethanolaminuria, is related to hypophosphatasia, childhood and hypophosphatasia, infantile, and has symptoms including seizures, waddling gait and apnea. An important gene associated with Hypophosphatasia is ALPL (Alkaline Phosphatase, Liver/Bone/Kidney), and among its related pathways/superpathways are Folate biosynthesis and NAD metabolism. The drugs Antibodies and Immunoglobulin G have been mentioned in the context of this disorder. Affiliated tissues include bone, skin and liver, and related phenotypes are abnormality of the dentition and large fontanelles

Genetics Home Reference : 25 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 : 76 Hypophosphatasia (also called deficiency of alkaline phosphatase or phosphoethanolaminuria) is a rare,... more...

GeneReviews: NBK1150

Related Diseases for Hypophosphatasia

Diseases in the Hypophosphatasia family:

Hypophosphatasia, Adult Hypophosphatasia, Infantile

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

(showing 67, show less)
# Related Disease Score Top Affiliating Genes
1 hypophosphatasia, childhood 34.3 ALPL SPTA1
2 hypophosphatasia, infantile 33.8 ALPL ALPP SPTA1
3 hypophosphatasia, adult 33.6 ALPL ENPP1 SPTA1
4 cleidocranial dysplasia 30.4 ALPL RUNX2
5 chondrocalcinosis 30.1 ALPL ENPP1
6 bone disease 29.8 ALPL ALPP RUNX2
7 hyperphosphatemia 29.6 PHEX RUNX2
8 osteomalacia 29.6 ALPL PHEX
9 hypophosphatemia 28.6 DSPP ENPP1 PHEX
10 prenatal benign hypophosphatasia 11.9
11 pyropoikilocytosis, hereditary 11.7
12 atelosteogenesis, type i 10.9
13 boomerang dysplasia 10.9
14 dentin dysplasia, type i 10.9
15 tick infestation 10.5 ALPL ALPP
16 testis seminoma 10.5 ALPL ALPP
17 ossification of the posterior longitudinal ligament of spine 10.3 ENPP1 RUNX2
18 autosomal recessive hypophosphatemic rickets 10.3 ENPP1 PHEX
19 arterial calcification of infancy 10.3 ENPP1 PHEX
20 hypophosphatemic rickets with hypercalciuria, hereditary 10.2 ENPP1 PHEX
21 periodontitis 10.2
22 osseous heteroplasia, progressive 10.0 ALPP ENPP1 RUNX2
23 ankylosis 10.0 PLCB4 RUNX2
24 craniosynostosis 10.0
25 bone remodeling disease 10.0 PHEX RUNX2
26 rickets 10.0 ALPL ENPP1 PHEX
27 dentin caries 10.0 ALPP DSPP
28 pancreatitis 9.9
29 psoriasis 9.9
30 intracranial hypertension, idiopathic 9.9
31 aging 9.9
32 brittle bone disorder 9.9
33 saethre-chotzen syndrome 9.9 ALPP RUNX2
34 teeth, supernumerary 9.9 DSPP RUNX2
35 hypercementosis 9.9 DSPP ENPP1
36 osteomyelitis 9.9
37 renal osteodystrophy 9.9
38 hyperparathyroidism 9.9
39 periarthritis 9.9
40 periodontal disease 9.9
41 arthropathy 9.9
42 myopathy 9.9
43 root resorption 9.8 DSPP RUNX2
44 cleft palate, isolated 9.7
45 hypochondroplasia 9.7
46 corneal dystrophy, band-shaped 9.7
47 chronic recurrent multifocal osteomyelitis 9.7
48 phenylketonuria 9.7
49 retinitis pigmentosa 9.7
50 hypophosphatemic rickets, x-linked dominant 9.7
51 leber congenital amaurosis 4 9.7
52 west syndrome 9.7
53 arthritis 9.7
54 hepatitis 9.7
55 keratopathy 9.7
56 leukemia 9.7
57 osteoarthritis 9.7
58 nephrotic syndrome 9.7
59 nephrocalcinosis 9.7
60 gingivitis 9.7
61 retinitis 9.7
62 paraplegia 9.7
63 morquio syndrome 9.7
64 dwarfism 9.7
65 endotheliitis 9.7
66 calcinosis 9.6 ENPP1 PHEX
67 hypophosphatemic rickets, x-linked recessive 9.4 DSPP ENPP1 PHEX

Graphical network of the top 20 diseases related to Hypophosphatasia:



Diseases related to Hypophosphatasia

Symptoms & Phenotypes for Hypophosphatasia

Human phenotypes related to Hypophosphatasia:

59 32 (showing 20, show less)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the dentition 59 32 hallmark (90%) Very frequent (99-80%) HP:0000164
2 large fontanelles 59 32 hallmark (90%) Very frequent (99-80%) HP:0000239
3 irritability 59 32 frequent (33%) Frequent (79-30%) HP:0000737
4 abnormality of the ribs 59 32 hallmark (90%) Very frequent (99-80%) HP:0000772
5 narrow chest 59 32 hallmark (90%) Very frequent (99-80%) HP:0000774
6 abnormality of the metaphysis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000944
7 skin dimple over apex of long bone angulation 59 32 hallmark (90%) Very frequent (99-80%) HP:0001024
8 seizures 59 32 frequent (33%) Frequent (79-30%) HP:0001250
9 muscular hypotonia 59 32 frequent (33%) Frequent (79-30%) HP:0001252
10 craniosynostosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0001363
11 failure to thrive in infancy 59 32 hallmark (90%) Very frequent (99-80%) HP:0001531
12 anemia 59 32 frequent (33%) Frequent (79-30%) HP:0001903
13 respiratory insufficiency 59 32 frequent (33%) Frequent (79-30%) HP:0002093
14 emphysema 59 32 hallmark (90%) Very frequent (99-80%) HP:0002097
15 recurrent fractures 59 32 frequent (33%) Frequent (79-30%) HP:0002757
16 hypercalcemia 59 32 frequent (33%) Frequent (79-30%) HP:0003072
17 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
18 bowing of the long bones 59 32 hallmark (90%) Very frequent (99-80%) HP:0006487
19 feeding difficulties in infancy 59 32 hallmark (90%) Very frequent (99-80%) HP:0008872
20 skin dimples 59 Very frequent (99-80%)

UMLS symptoms related to Hypophosphatasia:


seizures, waddling gait, apnea, constipation, fever of unknown origin, vomiting

MGI Mouse Phenotypes related to Hypophosphatasia:

46 (showing 4, show less)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.7 PLCB4 PLCG1 RUNX2 SPTA1 ALPL ENPP1
2 digestive/alimentary MP:0005381 9.65 ALPL PHEX PLCG1 RUNX2 SPTA1
3 mortality/aging MP:0010768 9.5 ALPL ENPP1 PHEX PLCB4 PLCG1 RUNX2
4 skeleton MP:0005390 9.1 ALPL ENPP1 PHEX PLCB4 RUNX2 SPTA1

Drugs & Therapeutics for Hypophosphatasia

Drugs for Hypophosphatasia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(showing 3, show less)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Antibodies Phase 4,Phase 2,Phase 3,Phase 1
2 Immunoglobulin G Phase 4,Phase 2,Phase 3,Phase 1
3 Immunoglobulins Phase 4,Phase 2,Phase 3,Phase 1

Interventional clinical trials:

(showing 25, show less)
# Name Status NCT ID Phase Drugs
1 Post-approval Clinical Study of Asfotase Alfa Treatment for Patients With Hypophosphatasia (HPP) in Japan Completed NCT02531867 Phase 4
2 Open-Label Study of Asfotase Alfa in Infants and Children ≤ 5 Years of Age With Hypophosphatasia (HPP) Completed NCT01176266 Phase 2, Phase 3 asfotase alfa
3 Safety and Efficacy of Asfotase Alfa in Patients With Hypophosphatasia (HPP) Completed NCT02456038 Phase 2 Asfotase Alfa (ALXN1215)
4 Safety and Efficacy Study of Asfotase Alfa in Adolescents and Adults With Hypophosphatasia (HPP) Completed NCT01163149 Phase 2 asfotase alfa;asfotase alfa
5 Extension Study of Protocol ENB-002-08 - Study of Asfotase Alfa in Infants and Young Children With Hypophosphatasia (HPP) Completed NCT01205152 Phase 2
6 Dose Escalation Study to Evaluate the Safety and Tolerability of Multiple Infusions of BPS804 in Adults With Hypophosphatasia (HPP) Completed NCT01406977 Phase 2 BPS804
7 Pharmacokinetic and Dose Response Study of Asfotase Alfa in Adult Patients With Pediatric-Onset Hypophosphatasia (HPP) Completed NCT02797821 Phase 2 Asfotase alfa
8 Extension Study of Protocol ENB-006-09 - Study of Asfotase Alfa in Children With Hypophosphatasia (HPP) Completed NCT01203826 Phase 2
9 Safety and Efficacy of Asfotase Alfa in Juvenile Patients With Hypophosphatasia (HPP) Completed NCT00952484 Phase 2
10 Safety and Efficacy Study of Asfotase Alfa in Severely Affected Infants With Hypophosphatasia (HPP) Completed NCT00744042 Phase 1, Phase 2
11 Safety and Efficacy Study of ENB-0040 in Juvenile Patients With Hypophosphatasia (HPP) Withdrawn NCT00894075 Phase 2
12 Safety Study of Human Recombinant Tissue Non-Specific Alkaline Phosphatase Fusion Protein Asfotase Alfa in Adults With Hypophosphatasia (HPP) Completed NCT00739505 Phase 1
13 Expanded Access Program for Asfotase Alfa Treatment for Patients With Infantile- or Juvenile-onset Hypophosphatasia (HPP) Approved for marketing NCT02496689
14 A Retrospective Study of the Natural History of Patients With Severe Perinatal and Infantile Hypophosphatasia (HPP) Completed NCT01419028
15 Retrospective, Non-interventional Natural History of Patients With Juvenile-onset Hypophosphatasia (HPP) Completed NCT02104219
16 Burden of Disease in Hypophosphatasia (HPP) Completed NCT02291497
17 Non-interventional Substudy of ALX-HPP-502 to Assess Natural History of Patients With Juvenile-onset HPP Who Served as Historical Controls in ENB-006-09 Completed NCT02235493
18 Health Burden of Hypophosphatasia Recruiting NCT02751801
19 Natural History Study of Patients With Hypophosphatasia (HPP) Recruiting NCT02237625
20 Characterisation of Adult-Onset Hypophosphatasia Recruiting NCT02796885
21 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168
22 An Observational, Longitudinal, Prospective, Long-Term Registry Of Patients With Hypophosphatasia (HPP) Enrolling by invitation NCT02306720
23 Evaluate and Monitor Physical Performance of Adults Treated With Asfotase Alfa for Hypophosphatasia Not yet recruiting NCT03418389
24 Tissue-nonspecific Alkaline Phosphatase in Phosphate and Pyrophosphate Homeostasis. Not yet recruiting NCT03520738 Not Applicable
25 Biomarker for Hypophosphatasia Disease Terminated NCT02603042

Search NIH Clinical Center for Hypophosphatasia

Cochrane evidence based reviews: hypophosphatasia

Genetic Tests for Hypophosphatasia

Genetic tests related to Hypophosphatasia:

# Genetic test Affiliating Genes
1 Hypophosphatasia 29 ALPL

Anatomical Context for Hypophosphatasia

MalaCards organs/tissues related to Hypophosphatasia:

41
Bone, Skin, Liver, Bone Marrow, Kidney, Testes, Neutrophil

Publications for Hypophosphatasia

Articles related to Hypophosphatasia:

(showing 565, show less)
# Title Authors Year
1
Hypophosphatasia: Biochemical hallmarks validate the expanded pediatric clinical nosology. ( 29360619 )
2018
2
Subtrochanteric and diaphyseal femoral fractures in hypophosphatasia-not atypical at all. ( 29774402 )
2018
3
Rare Variants in the Gene ALPL That Cause Hypophosphatasia Are Strongly Associated With Ovarian and Uterine Disorders. ( 29659871 )
2018
4
Reappearance of hypomineralized bone after discontinuation of asfotase alfa treatment for severe childhood hypophosphatasia. ( 29967930 )
2018
5
Low serum alkaline phosphatase activity due to asymptomatic hypophosphatasia in a teenage girl. ( 29958879 )
2018
6
Four Novel Mutations in the <i>ALPL</i> Gene in Chinese patients with Odonto, Childhood and Adult Hypophosphatasia. ( 29724887 )
2018
7
Validation of a Novel Scoring System for Changes in Skeletal Manifestations of Hypophosphatasia in Newborns, Infants, and Children: The Radiographic Global Impression of Change Scale. ( 29297597 )
2018
8
Brief Clinical Report: Hypophosphatasia-Diagnostic Considerations and Treatment Outcomes in an Infant. ( 29808151 )
2018
9
Perinatal and infantile hypophosphatasia: clinical features and treatment. ( 29405934 )
2017
10
Genetics of hypophosphatasia. ( 29405932 )
2017
11
A Newborn with No Bones: Neonatal Hypophosphatasia with Respiratory Distress. ( 28662950 )
2017
12
Adult-onset hypophosphatasia diagnosed following bilateral atypical femoral fractures in a 55-year-old woman. ( 29354166 )
2017
13
Hypophosphatasia: An overview For 2017. ( 28238808 )
2017
14
Clinical, radiographic and biochemical characteristics of adult hypophosphatasia. ( 28547134 )
2017
15
Adult hypophosphatasia. ( 29405936 )
2017
16
Hypophosphatasia: Enzyme Replacement Therapy Brings New Opportunities and New Challenges. ( 28084648 )
2017
17
Hypophosphatasia: oral cavity and dental disorders. ( 29405938 )
2017
18
Molecular and clinical analysis of ALPL in a cohort of patients with suspicion of Hypophosphatasia. ( 28127875 )
2017
19
Could biochemistry lab alert for low alkaline phosphatase prompt diagnosis of hypophosphatasia? ( 28766503 )
2017
20
Atypical femur fractures: a distinctive tract of adult hypophosphatasia. ( 29354161 )
2017
21
Identification of altered brain metabolites associated with TNAP activity in a mouse model of hypophosphatasia using untargeted NMR-based metabolomics analysis. ( 28072448 )
2017
22
Laboratory diagnosis of hypophosphatasia. ( 29405933 )
2017
23
Infantile hypophosphatasia combined with vitamin B6-responsive seizures and reticular formation lesions on magnetic resonance imaging: A case report. ( 28802630 )
2017
24
Early Tooth Loss in Children: A Warning Sign of Childhood Hypophosphatasia. ( 29172356 )
2017
25
Safety and efficacy of treatment with asfotase alfa in patients with hypophosphatasia: Results from a Japanese clinical trial. ( 28374482 )
2017
26
Efficacy of anti-sclerostin monoclonal antibody BPS804 in adult patients with hypophosphatasia. ( 28436937 )
2017
27
Hypophosphatasia in Adults: Clinical Assessment and Treatment Considerations. ( 28731215 )
2017
28
Renal impairment in hypophosphatasia. ( 29405941 )
2017
29
A homozygous intronic branch-point deletion in the ALPL gene causes infantile hypophosphatasia. ( 27777120 )
2017
30
Identification of hypophosphatasia in a clinical setting: Clinical manifestations and diagnostic recommendations in adult patients. ( 28755823 )
2017
31
[Infantile hypophosphatasia caused by a novel compound heterozygous mutation: a case report and pedigree analysis]. ( 28506345 )
2017
32
Hypophosphatasia. ( 28939177 )
2017
33
Clinical and Genetic Findings of Turkish Hypophosphatasia Cases. ( 28663156 )
2017
34
Hypophosphatasia: the patient's and patient's family's point of view. ( 29405942 )
2017
35
Hypophosphatasia: clinical manifestation and burden of disease in adult patients. ( 29263739 )
2017
36
Neuromuscular features of hypophosphatasia. ( 29405939 )
2017
37
Hypophosphatasia: the contribution of imaging. ( 29405937 )
2017
38
Monitoring guidance for patients with hypophosphatasia treated with asfotase alfa. ( 28888853 )
2017
39
Monoallelic FGFR3 and Biallelic ALPL mutations in a Thai girl with hypochondroplasia and hypophosphatasia. ( 28763161 )
2017
40
Teriparatide treatment in an adult patient with hypophosphatasia exposed to bisphosphonate and revealed by bilateral atypical fractures. ( 29246529 )
2017
41
Successful Asfotase Alfa Treatment in an Adult Dialysis Patient With Childhood-Onset Hypophosphatasia. ( 29264574 )
2017
42
Hypophosphatasia in children and adolescents: clinical features and treatment. ( 29405935 )
2017
43
Parental serum alkaline phosphatase activity as an auxiliary tool for prenatal diagnosis of hypophosphatasia. ( 28326564 )
2017
44
Craniosynostosis and hypophosphatasia. ( 29405940 )
2017
45
Successful Use of Enzyme Replacement Therapy in Infantile Hypophosphatasia. ( 28868782 )
2017
46
Recognizing the clinical triad and dural calcification in adult hypophosphatasia. ( 27994097 )
2016
47
Hypophosphatasia: diagnosis and clinical signs - a dental surgeon perspective. ( 27030892 )
2016
48
Neurodevelopmental alterations and seizures developed by mouse model of infantile hypophosphatasia are associated with purinergic signalling deregulation. ( 27466191 )
2016
49
Asfotase alfa: enzyme replacement for the treatment of bone disease in hypophosphatasia. ( 27376160 )
2016
50
Asfotase Alfa: A Review in Paediatric-Onset Hypophosphatasia. ( 26744272 )
2016
51
Gene therapy improves dental manifestations in hypophosphatasia model mice. ( 27561677 )
2016
52
Alkaline Phosphatase and Hypophosphatasia. ( 26590809 )
2016
53
Physical therapy management of infants and children with hypophosphatasia. ( 27386757 )
2016
54
Treatment of hypophosphatasia by muscle-directed expression of bone-targeted alkaline phosphatase via self-complementary AAV8 vector. ( 26904710 )
2016
55
Conditional Alpl Ablation Phenocopies Dental Defects of Hypophosphatasia. ( 27582029 )
2016
56
Hypophosphatasia: Evaluation of Size and Mineral Density of Exfoliated Teeth. ( 27805893 )
2016
57
Hypophosphatasia: Natural history study of 101 affected children investigated at one research center. ( 27576207 )
2016
58
Asfotase Alfa in Perinatal/Infantile-Onset and Juvenile-Onset Hypophosphatasia: A Guide to Its Use in the USA. ( 26832358 )
2016
59
Glycosylation-deficient mutations in tissue-nonspecific alkaline phosphatase impair its structure and function and are linked to infantile hypophosphatasia. ( 26797772 )
2016
60
The Editor recommends this issue's article to the reader: Hypophosphatasia: diagnosis and clinical signs - a dental surgeon perspective. ( 27704676 )
2016
61
Hypophosphatasia - aetiology, nosology, pathogenesis, diagnosis and treatment. ( 26893260 )
2016
62
HYPOPHOSPHATASIA WITH THE ASSOCIATION OF INV(1)(q11,q21.3) AND CLEFT PALATE. ( 27192895 )
2016
63
Pathophysiology of hypophosphatasia and the potential role of asfotase alfa. ( 27274262 )
2016
64
Adult hypophosphatasia. ( 26962706 )
2016
65
Case series: Odontohypophosphatasia or missed diagnosis of childhood/adult-onset hypophosphatasia? - Call for a long-term follow-up of premature loss of primary teeth. ( 28580391 )
2016
66
Bone mineralization-dependent craniosynostosis and craniofacial shape abnormalities in the mouse model of infantile hypophosphatasia. ( 26605996 )
2016
67
Burden of disease in adult patients with hypophosphatasia: Results from two patient-reported surveys. ( 27621187 )
2016
68
Transformative therapy in hypophosphatasia. ( 26992417 )
2016
69
Asfotase alfa (Strensiq) for hypophosphatasia. ( 27403786 )
2016
70
ADULT HYPOPHOSPHATASIA TREATED WITH TERIPARATIDE: REPORT OF TWO PATIENTS AND REVIEW OF THE LITERATURE. ( 27042741 )
2016
71
Pyridoxine Responsive Seizures in Infantile Hypophosphatasia and a Novel Homozygous Mutation in ALPL gene. ( 27086862 )
2016
72
A Diagnostic Algorithm for Children with Low Alkaline Phosphatase Activities: Lessons Learned from Laboratory Screening forA Hypophosphatasia. ( 26896157 )
2016
73
Asfotase alfa therapy for children with hypophosphatasia. ( 27699270 )
2016
74
Hypophosphatasia and the risk of atypical femur fractures: a case-control study. ( 27507156 )
2016
75
Clinical Images: A Cloudy Skull-Hypophosphatasia as Reason for Copper-Beaten Skull. ( 27780282 )
2016
76
Molecular defect of tissue-nonspecific alkaline phosphatase bearing a substitution at position 426 associated with hypophosphatasia. ( 28000043 )
2016
77
Current concepts in odontohypophosphatasia form of hypophosphatasia and report of two cases. ( 27531358 )
2016
78
Hypophosphatasia. ( 27084188 )
2016
79
Atypical femoral fracture in a 51-year-old woman: Revealing a hypophosphatasia. ( 26992955 )
2016
80
First Korean Case of Infantile Hypophosphatasia with Novel Mutation in ALPL and Literature Review. ( 27312557 )
2016
81
Nondestructive Microcomputed Tomography Evaluation of Mineral Density in Exfoliated Teeth with Hypophosphatasia. ( 27847653 )
2016
82
Identification of a molecular defect in a stillborn fetus with perinatal lethal hypophosphatasia using a disease-associated genome sequencing approach. ( 27179278 )
2016
83
Hypophosphatasia: an overview of the disease and its treatment. ( 26245849 )
2015
84
Reversible Deterioration in Hypophosphatasia Caused by Renal Failure with Bisphosphonate Treatment. ( 25736332 )
2015
85
Asfotase Alfa Treatment Improves Survival for Perinatal and Infantile Hypophosphatasia. ( 26529632 )
2015
86
Clinical management of hypophosphatasia. ( 26604944 )
2015
87
Lethal hypophosphatasia successfully treated with enzyme replacement from day 1 after birth. ( 26459154 )
2015
88
Improvement of the skeletal and dental hypophosphatasia phenotype in Alpl-/- mice by administration of soluble (non-targeted) chimeric alkaline phosphatase. ( 25433339 )
2015
89
Hypophosphatasia due to uniparental disomy. ( 25937451 )
2015
90
Bilateral Femoral Neck Fractures in A Young Patient Suffering from Hypophosphatasia, Due to A First Time Epileptic Seizure. ( 27299074 )
2015
91
Enzyme replacement for craniofacial skeletal defects and craniosynostosis in murine hypophosphatasia. ( 25959417 )
2015
92
Molecular Genetics of Hypophosphatasia and Phenotype-Genotype Correlations. ( 26219705 )
2015
93
Prenatal diagnosis of hypophosphatasia congenita using ultrasonography. ( 25971898 )
2015
94
Postnatal Pancraniosynostosis in a Patient With Infantile Hypophosphatasia. ( 26171568 )
2015
95
Prevention of Lethal Murine Hypophosphatasia by Neonatal Ex Vivo Gene Therapy Using Lentivirally Transduced Bone Marrow Cells. ( 26467745 )
2015
96
Expensive New Biologic Helps Children Fight Hypophosphatasia. ( 26803886 )
2015
97
Molecular diagnosis of hypophosphatasia and differential diagnosis by targeted Next Generation Sequencing. ( 26432670 )
2015
98
How Do we Estimate Quality Adjusted Life Years (Qalys) in Rare Diseases? A Case Study in Hypophosphatasia. ( 26533650 )
2015
99
Recombinant Enzyme Replacement Therapy in Hypophosphatasia. ( 26219718 )
2015
100
Neurological Symptoms of Hypophosphatasia. ( 26219717 )
2015
101
Enzyme replacement therapy for congenital hypophosphatasia allows for surgical treatment of related complex craniosynostosis: a case series. ( 25929963 )
2015
102
Hypophosphatasia: Validation and expansion of the clinical nosology for children from 25years experience with 173 pediatric patients. ( 25731960 )
2015
103
Clinical Forms and Animal Models of Hypophosphatasia. ( 26219704 )
2015
104
[Tissue-nonspecific alkaline phosphatase and hypophosphatasia]. ( 24473356 )
2014
105
Molecular evolution of the tissue-nonspecific alkaline phosphatase allows prediction and validation of missense mutations responsible for hypophosphatasia. ( 25023282 )
2014
106
Childhood Hypophosphatasia with Homozygous Mutation of ALPL. ( 25100374 )
2014
107
Unexpected high intrafamilial phenotypic variability observed in hypophosphatasia. ( 24569605 )
2014
108
Tissue-nonspecific alkaline phosphatase deficiency causes abnormal craniofacial bone development in the Alpl(-/-) mouse model of infantile hypophosphatasia. ( 25014884 )
2014
109
Ex Vivo Expanded Allogeneic Mesenchymal Stem Cells with Bone Marrow Transplantation Improved Osteogenesis in Infants with Severe Hypophosphatasia. ( 25396326 )
2014
110
Prosthetic rehabilitation of hypophosphatasia with precision attachment retained unconventional partial denture: a case report. ( 25654044 )
2014
111
Did Tutankhamun suffer from hypophosphatasia?--A hypothetical approach. ( 24466636 )
2013
112
An asparagine at position 417 of tissue-nonspecific alkaline phosphatase is essential for its structure and function as revealed by analysis of the N417S mutation associated with severe hypophosphatasia. ( 23688511 )
2013
113
Infantile hypophosphatasia secondary to a novel compound heterozygous mutation presenting with pyridoxine-responsive seizures. ( 23479201 )
2013
114
Characterization of six missense mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in Chinese children with hypophosphatasia. ( 24022022 )
2013
115
[Analysis of PHEX gene mutation in a hypophosphatasia pedigree]. ( 24078575 )
2013
116
Clinical and genetic aspects of hypophosphatasia in Japanese patients. ( 24276437 )
2013
117
Hypophosphatasia. ( 23858621 )
2013
118
Therapy-related Ph+ leukemia after both bone marrow and mesenchymal stem cell transplantation for hypophosphatasia. ( 23782379 )
2013
119
Acute severe hypercalcemia after traumatic fractures and immobilization in hypophosphatasia complicated by chronic renal failure. ( 24064686 )
2013
120
Calcific periarthritis as the only clinical manifestation of hypophosphatasia in middle-aged sisters. ( 24123110 )
2013
121
Clinical spectrum of hypophosphatasia diagnosed in adults. ( 23352924 )
2013
122
Infantile loss of teeth: odontohypophosphatasia or childhood hypophosphatasia. ( 23093139 )
2013
123
Clinical utility gene card for: Hypophosphatasia - update 2013. ( 23921539 )
2013
124
Outcome of perinatal hypophosphatasia in manitoba mennonites: a retrospective cohort analysis. ( 23580367 )
2013
125
Infantile hypophosphatasia without bone deformities presenting with severe pyridoxine-resistant seizures. ( 24100244 )
2013
126
Current concepts in hypophosphatasia: case report and literature review. ( 22672232 )
2013
127
Enzyme replacement therapy on hypophosphatasia mouse model. ( 23978959 )
2013
128
An unusual stress fracture in an archer with hypophosphatasia. ( 24383027 )
2013
129
Tooth root dentin mineralization defects in a mouse model of hypophosphatasia. ( 22991301 )
2013
130
Benign prenatal hypophosphatasia: a treatable disease not to be missed. ( 24145968 )
2013
131
Extracellular matrix mineralization in periodontal tissues: Noncollagenous matrix proteins, enzymes, and relationship to hypophosphatasia and X-linked hypophosphatemia. ( 23931057 )
2013
132
Compound heterozygosity of two functional null mutations in the ALPL gene associated with deleterious neurological outcome in an infant with hypophosphatasia. ( 23454488 )
2013
133
Hypophosphatasia. ( 22729426 )
2013
134
Perinatal hypophosphatasia caused by uniparental isodisomy. ( 24334170 )
2013
135
A Case of Vitamin D Deficiency without Elevation of Serum Alkaline Phosphatase in a Carrier of Hypophosphatasia. ( 24170964 )
2013
136
In silico scoring of ALPL gene mutations help to distinguish severe and moderate phenotypes in hypophosphatasia. ( 24134979 )
2012
137
Oro-dental features in hypophosphatasia: a valuable phenotype for disease diagnosis and evaluation of future treatment outcomes. ( 24134967 )
2012
138
Hypophosphatasia: a series of diagnosis missteps. ( 24134970 )
2012
139
Enzyme-replacement therapy in life-threatening hypophosphatasia. ( 22397652 )
2012
140
Prosthetic rehabilitation of a young patient with Hypophosphatasia - A review and case report. ( 22557902 )
2012
141
Novel heterozygous tissue-nonspecific alkaline phosphatase (TNAP) gene mutations causing lethal perinatal hypophosphatasia. ( 21638016 )
2012
142
Enzyme-replacement therapy for hypophosphatasia. ( 23951502 )
2012
143
Phosphoethanolamine normal range in pediatric urines for hypophosphatasia screening. ( 23093084 )
2012
144
Two common mutations in the ALPL gene in Japanese patients with hypophosphatasia. ( 24134974 )
2012
145
In vitro characterization of TNSALP mutations from two novel mouse models for hypophosphatasia. ( 24134987 )
2012
146
&amp;quot;Atypical femoral fractures&amp;quot; during bisphosphonate exposure in adult hypophosphatasia. ( 24134968 )
2012
147
Hypophosphatasia presenting with pyridoxine-responsive seizures, hypercalcemia, and pseudotumor cerebri: case report. ( 22394703 )
2012
148
Fracture burden in adults with hypophosphatasia. ( 24134969 )
2012
149
Adult hypophosphatasia with painful periarticular calcification treated with surgical resection. ( 22167380 )
2012
150
Evolutionary analysis of ALPL validates and predicts human mutations leading to hypophosphatasia. ( 24134978 )
2012
151
A dimerization defect caused by a glycine substitution at position 420 by serine in tissue-nonspecific alkaline phosphatase associated with perinatal hypophosphatasia. ( 23039266 )
2012
152
Bone quality changes in 3 cases of hypophosphatasia: a FTIRI study. ( 24134971 )
2012
153
Successful gene therapy in utero for lethal murine hypophosphatasia. ( 24134993 )
2012
154
Correction of hypophosphatasia-associated mineralization deficiencies in vitro by phosphate/pyrophosphate modulation in periodontal ligament cells. ( 22014174 )
2012
155
Respiratory mechanics in an infant with perinatal lethal hypophosphatasia treated with human recombinant enzyme replacement therapy. ( 22328548 )
2012
156
&amp;quot;Atypical femoral fractures&amp;quot; during bisphosphonate exposure in adult hypophosphatasia. ( 22322541 )
2012
157
Successful gene therapy in utero for lethal murine hypophosphatasia. ( 22133046 )
2012
158
Hypophosphatasia: enzyme replacement therapy (asfotase alfa) decreases TNSALP substrate accumulation and improves functional outcomes in affected adolescents and adults. ( 24134989 )
2012
159
Enzyme replacement therapy in different clinical phenotypes of hypophosphatasia--presentation of two cases. ( 24134990 )
2012
160
Biphosphonates in hypophosphatasia: not the evil? ( 24134995 )
2012
161
Hypophosphatasia--upcoming treatments. ( 24134996 )
2012
162
Enzyme replacement prevents enamel defects in hypophosphatasia mice. ( 22461224 )
2012
163
Clinicogenetical characteristics of Japanese patients with hypophosphatasia. ( 24134976 )
2012
164
Characterization of a deletion in tissue-nonspecific alkaline phosphatase (p.F327del) as the third frequent mutation in the Japanese patients with hypophosphatasia. ( 24134975 )
2012
165
Growth hormone increases growth velocity and alkaline phosphatase level in children with hypophosphatasia. ( 24134994 )
2012
166
Identification of the mutations in the tissue-nonspecific alkaline phosphatase gene in two Chinese families with hypophosphatasia. ( 22300680 )
2012
167
Ex vivo gene therapy of severe infantile hypophosphatasia model mice using lentiviral transduced bone marrow cells. ( 24134992 )
2012
168
Disulfide bonds are critical for tissue-nonspecific alkaline phosphatase function revealed by analysis of mutant proteins bearing a C(201)-Y or C(489)-S substitution associated with severe hypophosphatasia. ( 22266140 )
2012
169
Identifying individuals at risk for hypophosphatasia using an Electronic Medical Record (EMR). ( 24134973 )
2012
170
Acute severe hypercalcemia after traumatic fracture and immobilization in an adult with hypophosphatasia complicated by renal failure. ( 24134972 )
2012
171
Hypophosphatasia-associated deficiencies in mineralization and gene expression in cultured dental pulp cells obtained from human teeth. ( 22703652 )
2012
172
Failure of teriparatide in treatment of bone complications of adult hypophosphatasia. ( 22218563 )
2012
173
Perinatal (lethal) type of hypophosphatasia resulting from paternal isodisomy of chromosome 1. ( 24134977 )
2012
174
Gene therapy for lethal murine hypophosphatasia. ( 24134988 )
2012
175
Childhood hypophosphatasia with myopathy: clinical report with recent update. ( 22781519 )
2012
176
Hypophosphatasia now draws more attention of both clinicians and researchers: a commentary on Prevalence of c. 1559delT in ALPL, a common mutation resulting in the perinatal (lethal) form of hypophosphatasias in Japanese and effects of the mutation on heterozygous carriers. ( 21307860 )
2011
177
Whole-body MRI in the childhood form of hypophosphatasia. ( 20383509 )
2011
178
Hypophosphatasia: nonlethal disease despite skeletal presentation in utero (17 new cases and literature review). ( 21713987 )
2011
179
Skeletal mineralization defects in adult hypophosphatasia--a clinical and histological analysis. ( 21267545 )
2011
180
Clinical utility gene card for: hypophosphatasia. ( 20978533 )
2011
181
Enzyme replacement therapy prevents dental defects in a model of hypophosphatasia. ( 21212313 )
2011
182
Molecular characterization of tissue-nonspecific alkaline phosphatase with an Ala to Thr substitution at position 116 associated with dominantly inherited hypophosphatasia. ( 21168482 )
2011
183
Prenatal diagnosis of familial lethal hypophosphatasia using imaging, blood enzyme levels, chorionic villus sampling and archived fetal tissue. ( 21564408 )
2011
184
Dose response of bone-targeted enzyme replacement for murine hypophosphatasia. ( 21458605 )
2011
185
Prolonged survival and phenotypic correction of Akp2(-/-) hypophosphatasia mice by lentiviral gene therapy. ( 20687159 )
2011
186
Prevalence of c.1559delT in ALPL, a common mutation resulting in the perinatal (lethal) form of hypophosphatasia in Japanese and effects of the mutation on heterozygous carriers. ( 21179104 )
2011
187
Hypophosphatasia in a child with widened anterior fontanelle: lessons learned from late diagnosis and incorrect treatment. ( 21342251 )
2011
188
Rescue of severe infantile hypophosphatasia mice by AAV-mediated sustained expression of soluble alkaline phosphatase. ( 21388343 )
2011
189
A molecular-based estimation of the prevalence of hypophosphatasia in the European population. ( 21488855 )
2011
190
Genetic etiology and dental pulp cell deficiency of hypophosphatasia. ( 20924064 )
2010
191
Restoration of cellular function of mesenchymal stem cells from a hypophosphatasia patient. ( 19940865 )
2010
192
Physiological role of alkaline phosphatase explored in hypophosphatasia. ( 20392236 )
2010
193
Severe cleidocranial dysplasia and hypophosphatasia in a child with microdeletion of the C-terminal region of RUNX2. ( 20014132 )
2010
194
Clinical, pathological and genetic evaluations of Chinese patients with autosomal-dominant hypophosphatasia. ( 20828673 )
2010
195
Clinical characteristics of perinatal lethal hypophosphatasia: a report of 6 cases. ( 23926372 )
2010
196
Parathyroid hormone treatment improves pain and fracture healing in adult hypophosphatasia. ( 20739387 )
2010
197
Lack of sustained response to teriparatide in a patient with adult hypophosphatasia. ( 20089612 )
2010
198
New bone formation by allogeneic mesenchymal stem cell transplantation in a patient with perinatal hypophosphatasia. ( 19446101 )
2009
199
Neurosurgical aspects of childhood hypophosphatasia. ( 18769927 )
2009
200
Hypophosphatasia may lead to bone fragility: don't miss it. ( 18818947 )
2009
201
Novel human pathological mutations. Gene symbol: ALPL. Disease: hypophosphatasia. ( 19309795 )
2009
202
Prosthodontic rehabilitation of hypophosphatasia using dental implants: a review of the literature and two case reports. ( 19422434 )
2009
203
Mild forms of hypophosphatasia mostly result from dominant negative effect of severe alleles or from compound heterozygosity for severe and moderate alleles. ( 19500388 )
2009
204
Chronic recurrent multifocal osteomyelitis mimicked in childhood hypophosphatasia. ( 19335222 )
2009
205
Infantile hypophosphatasia due to a new compound heterozygous TNSALP mutation - functional evidence for a hydrophobic side-chain? ( 18523927 )
2009
206
How can calcium pyrophosphate crystals induce inflammation in hypophosphatasia or chronic inflammatory joint diseases? ( 18821074 )
2009
207
Orodental phenotype and genotype findings in all subtypes of hypophosphatasia. ( 19232125 )
2009
208
Teriparatide treatment in adult hypophosphatasia in a patient exposed to bisphosphonate: a case report. ( 22461258 )
2009
209
Atypical femoral fractures, bisphosphonates, and adult hypophosphatasia. ( 19113923 )
2009
210
Prosthetic rehabilitation of hypophosphatasia: a case report. ( 19918476 )
2009
211
[Study on dental pulp stem cells from patients with hypophosphatasia]. ( 19221568 )
2009
212
Comment on &amp;quot;Hypophosphatasia associated with pseudotumor cerebri and respiratory insufficiency&amp;quot;. ( 19693457 )
2009
213
Hypophosphatasia: phenotypic variability and possible Croatian origin of the c.1402g&amp;gt;A mutation of TNSALP gene. ( 20102078 )
2009
214
Hyperechoic metaphyses in hypophosphatasia: what does it mean? ( 18084754 )
2008
215
Treatment of adult hypophosphatasia with teriparatide. ( 18308659 )
2008
216
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
217
A new mechanism of dominance in hypophosphatasia: the mutated protein can disturb the cell localization of the wild-type protein. ( 18340466 )
2008
218
Specific ultrasonographic features of perinatal lethal hypophosphatasia. ( 18386808 )
2008
219
Hypophosphatasia associated with pseudotumor cerebri and respiratory insufficiency. ( 18334804 )
2008
220
Hypophosphatasia. ( 18328985 )
2008
221
Autosomal recessive hypophosphatasia manifesting in utero with long bone deformity but showing spontaneous postnatal improvement. ( 18559907 )
2008
222
Hypophosphatasia update: recent advances in diagnosis and treatment. ( 18190594 )
2008
223
Enzyme replacement therapy for murine hypophosphatasia. ( 18086009 )
2008
224
Hypophosphatasia: molecular testing of 19 prenatal cases and discussion about genetic counseling. ( 18925618 )
2008
225
Bone-targeted replacement therapy for hypophosphatasia. ( 18318644 )
2008
226
A case of lethal hypophosphatasia providing new insights into the perinatal benign form of hypophosphatasia and expression of the ALPL gene. ( 17922851 )
2008
227
Intramedullary nailing for adult hypophosphatasia: a case report. ( 19126913 )
2008
228
Chronic multifocal non-bacterial osteomyelitis in hypophosphatasia mimicking malignancy. ( 17241478 )
2007
229
Hypophosphatasia. ( 17916236 )
2007
230
Pyridoxine-responsive seizures as the first symptom of infantile hypophosphatasia caused by two novel missense mutations (c.677T&amp;gt;C, p.M226T; c.1112C&amp;gt;T, p.T371I) of the tissue-nonspecific alkaline phosphatase gene. ( 17395561 )
2007
231
Novel mouse model of autosomal semidominant adult hypophosphatasia has a splice site mutation in the tissue nonspecific alkaline phosphatase gene Akp2. ( 17539739 )
2007
232
Prenatal genetic diagnosis of severe perinatal (lethal) hypophosphatasia. ( 17384481 )
2007
233
[Therapy for hypophosphatasia]. ( 17906415 )
2007
234
Adult hypophosphatasia treated with teriparatide. ( 17213282 )
2007
235
Specific osseous spurs in a lethal form of hypophosphatasia correlated with 3D prenatal ultrasonographic images. ( 17238218 )
2007
236
Delayed transport of tissue-nonspecific alkaline phosphatase with missense mutations causing hypophosphatasia. ( 17719863 )
2007
237
Mutations of the tissue non-specific alkaline phosphatase gene (TNAP) causing a non-lethal case of perinatal hypophosphatasia. ( 17409132 )
2007
238
Long-term follow-up of bone mineral density in childhood hypophosphatasia. ( 17420150 )
2007
239
Infantile hypophosphatasia: transplantation therapy trial using bone fragments and cultured osteoblasts. ( 17519318 )
2007
240
Low serum alkaline phosphatase activity and pathologic fracture: case report and brief review of hypophosphatasia diagnosed in adulthood. ( 17229666 )
2006
241
Homozygosity for TNSALP mutation 1348c&amp;gt;T (Arg433Cys) causes infantile hypophosphatasia manifesting transient disease correction and variably lethal outcome in a kindred of black ancestry. ( 16769381 )
2006
242
Aberrant interchain disulfide bridge of tissue-nonspecific alkaline phosphatase with an Arg433--&amp;gt;Cys substitution associated with severe hypophosphatasia. ( 17212778 )
2006
243
Analysis of the periodontal microbiota in childhood-type hypophosphatasia. ( 16875876 )
2006
244
Clinics in diagnostic imaging (112). Perinatal lethal hypophosphatasia (PLH). ( 17075671 )
2006
245
Elevated skeletal osteopontin levels contribute to the hypophosphatasia phenotype in Akp2(-/-) mice. ( 16939396 )
2006
246
Effective NSAID treatment indicates that hyperprostaglandinism is affecting the clinical severity of childhood hypophosphatasia. ( 16803637 )
2006
247
Mild hypophosphatasia in utero: bent bones in a family with dental disease. ( 15840803 )
2005
248
Cementum and dentin in hypophosphatasia. ( 16246934 )
2005
249
Bilateral transverse (Bowdler) fibular spurs with hypophosphatasia in an adolescent girl. ( 15782022 )
2005
250
Neonatal hypophosphatasia and seizures. A case report. ( 16205618 )
2005
251
Childhood hypophosphatasia due to a de novo missense mutation in the tissue-nonspecific alkaline phosphatase gene. ( 15671102 )
2005
252
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
253
[Hypophosphatasia: report of two affected girls with spontaneous improvement of skeletal defects]. ( 16583935 )
2005
254
Adult hypophosphatasia and a low level of red blood cell thiamine pyrophosphate. ( 15802905 )
2005
255
Characterization of 11 novel mutations in the tissue non-specific alkaline phosphatase gene responsible for hypophosphatasia and genotype-phenotype correlations. ( 15694177 )
2005
256
Common mutations F310L and T1559del in the tissue-nonspecific alkaline phosphatase gene are related to distinct phenotypes in Japanese patients with hypophosphatasia. ( 15660230 )
2005
257
Autosomal recessive adult-onset hypophosphatasia. ( 16373239 )
2005
258
Hypophosphatasia in Taiwan: report of two cases. ( 15875439 )
2005
259
Characterization of the mutant (A115V) tissue-nonspecific alkaline phosphatase gene from adult-type hypophosphatasia. ( 15629439 )
2005
260
Positive maternal serum triple test screening in severe early onset hypophosphatasia. ( 15300736 )
2004
261
Childhood hypophosphatasia: a case report due to a novel mutation. ( 15135428 )
2004
262
The mutant (F310L and V365I) tissue-nonspecific alkaline phosphatase gene from hypophosphatasia. ( 15137467 )
2004
263
A successful treatment with pyridoxal phosphate for West syndrome in hypophosphatasia. ( 15033207 )
2004
264
Marrow cell transplantation for infantile hypophosphatasia. ( 12674323 )
2003
265
Severe perinatal hypophosphatasia due to homozygous deletion of T at nucleotide 1559 in the tissue nonspecific alkaline phosphatase gene. ( 12975786 )
2003
266
Severe hypophosphatasia: characterization of fifteen novel mutations in the ALPL gene. ( 12815606 )
2003
267
A case of hypophosphatasia. ( 14735810 )
2003
268
G317D mutation in the tissue-nonspecific alkaline phosphatase gene associated with childhood hypophosphatasia in a German family. ( 12638946 )
2002
269
Function of mutant (G1144A) tissue-nonspecific ALP gene from hypophosphatasia. ( 12412800 )
2002
270
Cleidocranial dysplasia with decreased bone density and biochemical findings of hypophosphatasia. ( 12424590 )
2002
271
Evidence of a founder effect for the tissue-nonspecific alkaline phosphatase (TNSALP) gene E174K mutation in hypophosphatasia patients. ( 12357339 )
2002
272
Hypophosphatasia associated with increased nuchal translucency: a report of two affected pregnancies. ( 12230456 )
2002
273
Glu274Lys/Gly309Arg mutation of the tissue-nonspecific alkaline phosphatase gene in neonatal hypophosphatasia associated with convulsions. ( 11999978 )
2002
274
Denaturing gradient gel electrophoresis analysis of the tissue nonspecific alkaline phosphatase isoenzyme gene in hypophosphatasia. ( 11855933 )
2002
275
Severe cleidocranial dysplasia can mimic hypophosphatasia. ( 12424591 )
2002
276
Retention at the cis-Golgi and delayed degradation of tissue-non-specific alkaline phosphatase with an Asn153--&amp;gt;Asp substitution, a cause of perinatal hypophosphatasia. ( 11802776 )
2002
277
Pyridoxine-dependent seizures associated with hypophosphatasia in a newborn. ( 12026240 )
2002
278
Kinetic characterization of hypophosphatasia mutations with physiological substrates. ( 12162492 )
2002
279
Importance of deletion of T at nucleotide 1559 in the tissue-nonspecific alkaline phosphatase gene in Japanese patients with hypophosphatasia. ( 11810413 )
2002
280
Severe hypophosphatasia due to mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene. ( 12416636 )
2002
281
Twelve novel mutations in the tissue-nonspecific alkaline phosphatase gene (ALPL) in patients with various forms of hypophosphatasia. ( 11438998 )
2001
282
Adult hypophosphatasia. Current aspects. ( 11324927 )
2001
283
Hypophosphatasia: molecular diagnosis of Rathbun's original case. ( 11547844 )
2001
284
A novel point mutation (C571T) in the tissue-non-specific alkaline phosphatase gene in a case of adult-type hypophosphatasia. ( 11834095 )
2001
285
Perinatal hypophosphatasia: radiology, pathology and molecular biology studies in a family harboring a splicing mutation (648+1A) and a novel missense mutation (N400S) in the tissue-nonspecific alkaline phosphatase (TNSALP) gene. ( 11745997 )
2001
286
Mutational analysis and functional correlation with phenotype in German patients with childhood-type hypophosphatasia. ( 11760847 )
2001
287
A molecular approach to dominance in hypophosphatasia. ( 11479741 )
2001
288
Prenatal diagnosis of congenital hypophosphatasia in a consanguineous Bedouin couple. A case report. ( 10948473 )
2000
289
Fifteen new mutations (-195C>T, L-12X, 298-2A>G, T117N, A159T, R229S, 997+2T>A, E274X, A331T, H364R, D389G, 1256delC, R433H, N461I, C472S) in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in patients with hypophosphatasia. ( 10679946 )
2000
290
Hypophosphatasia: the mutations in the tissue-nonspecific alkaline phosphatase gene. ( 10737975 )
2000
291
Alkaline phosphatase isoenzymes and clinical features in hypophosphatasia. ( 11085622 )
2000
292
Neutrophil alkaline phosphatase (NAP) score in the diagnosis of hypophosphatasia. ( 11074063 )
2000
293
Infantile hypophosphatasia: disappointing results of treatment. ( 10914973 )
2000
294
Asp361Val mutant of alkaline phosphatase found in patients with dominantly inherited hypophosphatasia inhibits the activity of the wild-type enzyme. ( 10690885 )
2000
295
Severe hypercalcaemia and respiratory insufficiency associated with infantile hypophosphatasia caused by two novel mutations of the tissue-nonspecific alkaline phosphatase gene. ( 10834525 )
2000
296
Characterization of a family with dominant hypophosphatasia. ( 10872988 )
2000
297
Pyridoxine-induced photosensitivity and hypophosphatasia. ( 11146351 )
2000
298
Possible interference between tissue-non-specific alkaline phosphatase with an Arg54--&amp;gt;Cys substitution and acounterpart with an Asp277--&amp;gt;Ala substitution found in a compound heterozygote associated with severe hypophosphatasia. ( 10839996 )
2000
299
Comparison of serum catalytic activity and immunoreactivity of bone alkaline phosphatase in hypophosphatasia. ( 10727673 )
2000
300
Alkaline phosphatase knock-out mice recapitulate the metabolic and skeletal defects of infantile hypophosphatasia. ( 10620060 )
1999
301
Characterization of eleven novel mutations (M45L, R119H, 544delG, G145V, H154Y, C184Y, D289V, 862+5A, 1172delC, R411X, E459K) in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in patients with severe hypophosphatasia. ( 10094560 )
1999
302
Correlation of alkaline phosphatase (ALP) determination and analysis of the tissue non-specific ALP gene in prenatal diagnosis of severe hypophosphatasia. ( 10451522 )
1999
303
Molecular diagnosis of hypophosphatasia with severe periodontitis. ( 10397525 )
1999
304
Red-cell thiamine pyrophosphate levels in hypophosphatasia. ( 10070629 )
1999
305
Infantile hypophosphatasia. ( 17277537 )
1999
306
Hypophosphatasia: diagnostic application of linked DNA markers in the dominantly inherited adult form. ( 10369796 )
1999
307
Bone metabolism and bone mineral density in childhood hypophosphatasia. ( 10495141 )
1999
308
Treatment of childhood hypophosphatasia with nonsteroidal antiinflammatory drugs. ( 10574582 )
1999
309
Correlations of genotype and phenotype in hypophosphatasia. ( 10332035 )
1999
310
Hypophosphatasia: the importance of alkaline phosphatase in bone mineralization. ( 10659574 )
1999
311
Mild hypophosphatasia mimicking severe osteogenesis imperfecta in utero: bent but not broken. ( 10508985 )
1999
312
Mild autosomal dominant hypophosphatasia: in utero presentation in two families. ( 10508980 )
1999
313
[A light and scanning electron microscopic study of primary teeth in hypophosphatasia]. ( 11776910 )
1999
314
Perinatal hypophosphatasia: diagnosis and detection of heterozygote carriers within the family. ( 10636450 )
1999
315
Increase in leukocyte alkaline phosphatase in a patient with hypophosphatasia during pregnancy. ( 9501278 )
1998
316
Defective intracellular transport of tissue-nonspecific alkaline phosphatase with an Ala162--&amp;gt;Thr mutation associated with lethal hypophosphatasia. ( 9562633 )
1998
317
Identification of fifteen novel mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in European patients with severe hypophosphatasia. ( 9781036 )
1998
318
Analysis of localization of mutated tissue-nonspecific alkaline phosphatase proteins associated with neonatal hypophosphatasia using green fluorescent protein chimeras. ( 9814472 )
1998
319
Relationship between serum alkaline phosphatase and pyridoxal-5'-phosphate levels in hypophosphatasia. ( 9536930 )
1998
320
Hypophosphatasia: identification of five novel missense mutations (G507A, G705A, A748G, T1155C, G1320A) in the tissue-nonspecific alkaline phosphatase gene among Japanese patients. ( 9452105 )
1998
321
Persistently raised serum acid phosphatase activity in a patient with hypophosphatasia: electrophoretic and molecular weight characterisation as type 5. ( 9565336 )
1998
322
A novel missense mutation of the tissue-nonspecific alkaline phosphatase gene detected in a patient with hypophosphatasia. ( 9747027 )
1998
323
Expression of the mutant (1735T-DEL) tissue-nonspecific alkaline phosphatase gene from hypophosphatasia patients. ( 9844100 )
1998
324
Intracellular retention and degradation of tissue-nonspecific alkaline phosphatase with a Gly317--&amp;gt;Asp substitution associated with lethal hypophosphatasia. ( 9618260 )
1998
325
Lethal hypophosphatasia, spur type: case report and fetopathological study. ( 9777343 )
1998
326
Inactivation of two mouse alkaline phosphatase genes and establishment of a model of infantile hypophosphatasia. ( 9056646 )
1997
327
Adult hypophosphatasia in an aged patient. ( 9272313 )
1997
328
Detection of deletion 1154-1156 hypophosphatasia mutation using TNSALP exon amplification. ( 9192863 )
1997
329
Matrix vesicles in osteomalacic hypophosphatasia bone contain apatite-like mineral crystals. ( 9403706 )
1997
330
Infantile hypophosphatasia: treatment options to control hypercalcemia, hypercalciuria, and chronic bone demineralization. ( 9152296 )
1997
331
Genetic analysis of hypophosphatasia. ( 9316305 )
1997
332
Absence of adult dental anomalies in familial hypophosphatasia. ( 9210091 )
1997
333
Childhood hypophosphatasia. A case report. ( 9188264 )
1997
334
First-trimester prenatal molecular diagnosis of infantile hypophosphatasia in a Japanese family. ( 8809899 )
1996
335
Hypophosphatasia. ( 8881924 )
1996
336
Hypophosphatasia: levels of bone alkaline phosphatase immunoreactivity in serum reflect disease severity. ( 8964842 )
1996
337
Aberrant properties of alkaline phosphatase in patient fibroblasts correlate with clinical expressivity in severe forms of hypophosphatasia. ( 8675582 )
1996
338
Identification of novel missense mutations (Phe310Leu and Gly439Arg) in a neonatal case of hypophosphatasia. ( 8954059 )
1996
339
A clinical and research protocol for characterizing patients with hypophosphatasia. ( 8668564 )
1996
340
A congenital lethal form of hypophosphatasia: histologic and ultrastructural study. ( 8677780 )
1996
341
[Hypophosphatasia in adults. Report of 3 cases]. ( 9036256 )
1996
342
Hypophosphatasia affecting the permanent dentition. ( 8887081 )
1996
343
Neonatal form of hypophosphatasia. A case report. ( 8560613 )
1995
344
Prenatal diagnosis of congenital hypophosphatasia. ( 7699095 )
1995
345
Infantile hypophosphatasia: successful prenatal assessment by testing for tissue-non-specific alkaline phosphatase isoenzyme gene mutations. ( 8606878 )
1995
346
Hypophosphatasia in a newborn infant. ( 7732610 )
1995
347
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
348
Hereditary hypophosphatasia and hyperphosphatasia. ( 8060771 )
1994
349
Hypophosphatasia and the role of alkaline phosphatase in skeletal mineralization. ( 7988481 )
1994
350
Novel missense and frameshift mutations in the tissue-nonspecific alkaline phosphatase gene in a Japanese patient with hypophosphatasia. ( 7833929 )
1994
351
Periodontal manifestation of hypophosphatasia. A family case report. ( 7852617 )
1994
352
Lack of evidence for hypophosphatasia as a factor in the pathogenesis of early-onset periodontitis. ( 8531251 )
1994
353
The Ala-161--&amp;gt;Thr substitution in Escherichia coli alkaline phosphatase does not result in loss of enzymatic activity although the homologous mutation in humans causes hypophosphatasia. ( 8323535 )
1993
354
Clinical and laboratory studies of severe periodontal disease in an adolescent associated with hypophosphatasia. A case report. ( 8385214 )
1993
355
Evidence against a role for alkaline phosphatase in the dephosphorylation of plasma membrane proteins: hypophosphatasia fibroblast study. ( 8227182 )
1993
356
Hypophosphatasia: dental aspects and mode of inheritance. ( 8227447 )
1993
357
A homoallelic Gly317-->Asp mutation in ALPL causes the perinatal (lethal) form of hypophosphatasia in Canadian mennonites. ( 8406453 )
1993
358
Hypophosphatasia ( 20301329 )
1993
359
[Molecular cloning of liver/bone/kidney-type alkaline phosphatase complementary and genomic DNA: analyses of its deficiency, infantile hypophosphatasia]. ( 8096553 )
1993
360
Generalized odontodysplasia concomitant with mild hypophosphatasia--a case report. ( 8384047 )
1993
361
Different missense mutations at the tissue-nonspecific alkaline phosphatase gene locus in autosomal recessively inherited forms of mild and severe hypophosphatasia. ( 1409720 )
1992
362
Hypophosphatasia: a family study involving a case diagnosed from gingival crevicular fluid. ( 1432739 )
1992
363
Missense mutations of the tissue-nonspecific alkaline phosphatase gene in hypophosphatasia. ( 1360878 )
1992
364
Renal osteodystrophy, disorders of vitamin D metabolism, and hypophosphatasia. ( 1599820 )
1992
365
Reduced bone mineral density and low parathyroid hormone levels in patients with the adult form of hypophosphatasia. ( 1392424 )
1992
366
Phenotypically dissimilar hypophosphatasia in two sibships. ( 1308350 )
1992
367
Perinatal hypophosphatasia. ( 1459699 )
1992
368
Carrier diagnosis by RFLP analysis in a family affected with infantile hypophosphatasia: case report. ( 1687418 )
1991
369
First-trimester diagnosis of hypophosphatasia. Importance of gestational age and purity of CV samples. ( 1788179 )
1991
370
Serum osteocalcin levels before and after 1,25 dihydroxy-vitamin D stimulation in a family with hypophosphatasia. ( 1793676 )
1991
371
Hypophosphatasemia, not hypophosphatasia. ( 1920324 )
1991
372
Retrospective study of children with hypophosphatasia with reference to dental changes. ( 1754836 )
1991
373
Hypophosphatasia. ( 1819578 )
1991
374
Hypophosphatasia in an adult: a case report. ( 1865578 )
1991
375
Permanent teeth in hypophosphatasia: light and electron microscopic study. ( 1895252 )
1991
376
Hypophosphatasia and the extracellular metabolism of inorganic pyrophosphate: clinical and laboratory aspects. ( 1647780 )
1991
377
Perinatal ultrasound casebook. Antenatal findings in congenital hypophosphatasia. ( 1919830 )
1991
378
Raised urinary excretion of inorganic pyrophosphate in asymptomatic members of a hypophosphatasia kindred. ( 1667625 )
1991
379
Computer assisted analysis of hand radiographs in infantile hypophosphatasia carriers. ( 2047163 )
1991
380
First-trimester prenatal diagnosis of hypophosphatasia: experience with 16 cases. ( 1924179 )
1991
381
Perinatal lethal hypophosphatasia; clinical, radiologic and morphologic findings. ( 1749675 )
1991
382
[A case of severe periodontal disease in adolescence associated with hypophosphatasia]. ( 1955807 )
1991
383
Prenatal diagnosis of infantile hypophosphatasia. ( 1680232 )
1991
384
Immunological study on hypophosphatasia. ( 2253404 )
1990
385
Clinical disorders of vitamin D, renal osteodystrophy, and hypophosphatasia. ( 2223436 )
1990
386
Prenatal follow-up of hypophosphatasia by ultrasound: case report. ( 2178994 )
1990
387
Infantile hypophosphatasia: localization within chromosome region 1p36.1-34 and prenatal diagnosis using linked DNA markers. ( 1689104 )
1990
388
Recurrent calcific periarthritis, erosive osteoarthritis and hypophosphatasia: a family study. ( 2290172 )
1990
389
Increased plasma pyridoxal-5'-phosphate levels before and after pyridoxine loading in carriers of perinatal/infantile hypophosphatasia. ( 2079838 )
1990
390
Myopathy with hypophosphatasia. ( 2301976 )
1990
391
Alkaline phosphatase (tissue-nonspecific isoenzyme) is a phosphoethanolamine and pyridoxal-5'-phosphate ectophosphatase: normal and hypophosphatasia fibroblast study. ( 2220817 )
1990
392
Infantile hypophosphatasia: autosomal recessive transmission to two related sibships. ( 2333903 )
1990
393
Hyperphosphatemia in infantile hypophosphatasia: implications for carrier diagnosis and screening. ( 2301398 )
1990
394
Prenatal diagnosis of hypophosphatasia. ( 2405175 )
1990
395
First identification of a gene defect for hypophosphatasia: evidence that alkaline phosphatase acts in skeletal mineralization. ( 2605956 )
1989
396
Biochemical and morphological effects of human hepatic alkaline phosphatase in a neonate with hypophosphatasia. ( 2642253 )
1989
397
Prominent transverse (Bowdler) bone spurs as a diagnostic clue in a case of neonatal hypophosphatasia without metaphyseal irregularity. ( 2755749 )
1989
398
Dental aspects of hypophosphatasia: a case report, family study, and literature review. ( 2654797 )
1989
399
Skin dimples in hypophosphatasia. ( 2721809 )
1989
400
Analysis of liver/bone/kidney alkaline phosphatase mRNA, DNA, and enzymatic activity in cultured skin fibroblasts from 14 unrelated patients with severe hypophosphatasia. ( 2705456 )
1989
401
Crystal deposition in hypophosphatasia: a reappraisal. ( 2549888 )
1989
402
Adult hypophosphatasia in a geriatric patient. ( 3339218 )
1988
403
Hypophosphatasia: report of a case with unique oral manifestations. ( 3256598 )
1988
404
Perinatal hypophosphatasia: tissue levels of vitamin B6 are unremarkable despite markedly increased circulating concentrations of pyridoxal-5'-phosphate. Evidence for an ectoenzyme role for tissue-nonspecific alkaline phosphatase. ( 3350970 )
1988
405
Pulmonary hypoplasia in neonatal hypophosphatasia. ( 3227000 )
1988
406
Accumulation of phosphorus compounds in tissues and cultured skin fibroblasts in patients with hypophosphatasia. ( 3408505 )
1988
407
A missense mutation in the human liver/bone/kidney alkaline phosphatase gene causing a lethal form of hypophosphatasia. ( 3174660 )
1988
408
Hypophosphatasia: biochemical screening of a Dutch kindred and evidence that urinary excretion of inorganic pyrophosphate is a marker for the disease. ( 2843309 )
1988
409
Lethal osteogenesis imperfecta: abnormal collagen metabolism and biochemical characteristics of hypophosphatasia. ( 3181205 )
1988
410
Infantile hypophosphatasia--linkage with the RH locus. ( 3128473 )
1987
411
Infantile hypophosphatasia fibroblasts proliferate normally in culture: evidence against a role for alkaline phosphatase (tissue nonspecific isoenzyme) in the regulation of cell growth and differentiation. ( 3103894 )
1987
412
Infantile hypophosphatasia: enzymatic defect explored with alkaline phosphatase-deficient skin fibroblasts in culture. ( 3107777 )
1987
413
A mild form of hypophosphatasia as a cause of premature exfoliation of primary teeth: report of two cases. ( 3472186 )
1987
414
Management of femoral fractures and pseudofractures in adult hypophosphatasia. ( 3745261 )
1986
415
Normal activity of nucleoside triphosphate pyrophosphatase in alkaline phosphatase-deficient fibroblasts from patients with infantile hypophosphatasia. ( 3020080 )
1986
416
Infantile hypophosphatasia: normalization of circulating bone alkaline phosphatase activity followed by skeletal remineralization. Evidence for an intact structural gene for tissue nonspecific alkaline phosphatase. ( 3944698 )
1986
417
Hypophosphatasia. ( 3078782 )
1986
418
Ectopic calcification in hypophosphatasia. ( 3769946 )
1986
419
Neutrophil alkaline phosphatase in hypophosphatasia. ( 4000211 )
1985
420
Morquio syndrome (MPS IVA) and hypophosphatasia in a Hutterite kindred. ( 3933344 )
1985
421
Histologic and ultrastructural studies on the mineralization process in hypophosphatasia. ( 4073124 )
1985
422
Imaging case of the month. Hypophosphatasia. ( 3893454 )
1985
423
Normal circulating acid phosphatase activity in hypophosphatasia. ( 3939595 )
1985
424
First trimester diagnosis of hypophosphatasia with a monoclonal antibody to the liver/bone/kidney isoenzyme of alkaline phosphatase. ( 2864577 )
1985
425
Hyperphosphataemia in hypophosphatasia. ( 4088394 )
1985
426
Early prenatal diagnosis of congenital hypophosphatasia: case report. ( 3883342 )
1985
427
Inheritance of hypophosphatasia. ( 4069031 )
1985
428
Markedly increased circulating pyridoxal-5'-phosphate levels in hypophosphatasia. Alkaline phosphatase acts in vitamin B6 metabolism. ( 4031070 )
1985
429
Enzyme replacement therapy for infantile hypophosphatasia attempted by intravenous infusions of alkaline phosphatase-rich Paget plasma: results in three additional patients. ( 6502342 )
1984
430
Hypophosphatasia: clinicopathologic comparison of the infantile, childhood, and adult forms. ( 6690884 )
1984
431
Cranial manifestations of hypophosphatasia in childhood nephrotic syndrome. ( 6430833 )
1984
432
Adult hypophosphatasia without apparent skeletal disease: &amp;quot;odontohypophosphatasia&amp;quot; in four heterozygote members of a family. ( 6727276 )
1984
433
Hypophosphatasia and nephrocalcinosis demonstrated by ultrasound and CT. ( 6396009 )
1984
434
Hypophosphatasia. ( 6572063 )
1983
435
Isoenzymes of alkaline phosphatase in infantile hypophosphatasia. ( 6854132 )
1983
436
Cholestatic jaundice with a normal serum alkaline phosphatase level: another case of hypophosphatasia in an adult. ( 6847845 )
1983
437
Alkaline phosphatase deficiency in cultured skin fibroblasts from patients with hypophosphatasia: comparison of the infantile, childhood, and adult forms. ( 6885967 )
1983
438
Clinical, laboratory, and genetic investigations of hypophosphatasia: support for autosomal dominant inheritance with homozygous lethality. ( 6643650 )
1983
439
Atypical retinitis pigmentosa with hypophosphatasia. ( 6591589 )
1983
440
Adult hypophosphatasia. ( 6648620 )
1983
441
Fetal congenital lethal hypophosphatasia: histochemical absence of alkaline phosphatase activity in endothelial cells of intramuscular capillaries. ( 6214919 )
1982
442
Hypophosphatasia congenita letalis. ( 7094944 )
1982
443
Infantile hypophosphatasia diagnosed at 4 months and surviving at 2 years. ( 7085329 )
1982
444
Adult hypophosphatasia with chondrocalcinosis and arthropathy. Variable penetrance of hypophosphatasemia in a large Oklahoma kindred. ( 7072744 )
1982
445
Lethal and mild hypophosphatasia in half-sibs. ( 7130355 )
1982
446
Infantile hypophosphatasia: enzyme replacement therapy by intravenous infusion of alkaline phosphatase-rich plasma from patients with Paget bone disease. ( 7108657 )
1982
447
The prominent falx cerebri: new ultrasonic observation in hypophosphatasia. ( 6798081 )
1982
448
Clinical, radiological, morphological and biochemical data on fetal congenital lethal hypophosphatasia. ( 7163257 )
1982
449
Circulating vitamin D metabolite levels in hypophosphatasia. ( 6978889 )
1982
450
Hypophosphatasia. ( 7136701 )
1982
451
Vitamin D metabolism in hypophosphatasia. ( 6291316 )
1982
452
Adult hypophosphatasia: generalized deficiency of alkaline phosphatase activity demonstrated with cultured skin fibroblasts. ( 7182980 )
1982
453
Prenatal diagnosis of congenital hypophosphatasia: challenge met most adequately by fetal radiography. ( 7163290 )
1982
454
Heterogeneity of adult hypophosphatasia. Report of severe and mild cases. ( 7235780 )
1981
455
Prenatal diagnosis of hypophosphatasia. ( 7243133 )
1981
456
Fifty-year follow-up of hypophosphatasia. ( 7305584 )
1981
457
Hypophosphatasia in renal-transplant patients. ( 7008975 )
1981
458
Pyrophosphate arthropathy in hypophosphatasia. ( 6261701 )
1981
459
Neonatal hypophosphatasia. (A case report). ( 7251128 )
1980
460
Two siblings with hypophosphatasia. ( 7415841 )
1980
461
Hypophosphatasia (adult form): quantitation of serum alkaline phosphatase isoenzyme activity in a large kindred. ( 7379306 )
1980
462
Orthopaedic problems in adult hypophosphatasia: a report of two cases. ( 422640 )
1979
463
Skull scintigraphy in infantile hypophosphatasia. ( 536807 )
1979
464
Childhood hypophosphatasia with oral manifestations. ( 289724 )
1979
465
Hypophosphatasia: biochemical diagnosis in post-mortem organs, plasma and diploid skin fibroblasts [proceedings]. ( 93946 )
1979
466
Adult hypophosphatasia. Clinical, laboratory, and genetic investigation of a large kindred with review of the literature. ( 481194 )
1979
467
Hyperparathyroidism and infantile hypophosphatasia: effect of prednisone and vitamin K therapy. ( 501490 )
1979
468
Hypophosphatasia: a case report and literature review. ( 396268 )
1979
469
[Hypophosphatasia in an adult, with late clinical manifestations (author's transl)]. ( 745977 )
1978
470
Serum alkaline phosphatase, serum pyrophosphatase, phosphorylethanolamine and inorganic pyrophosphate in plasma and urine. A genetic and clinical study of hypophosphatasia. ( 214699 )
1978
471
Alkaline phosphatase induction in fibroblast cultures: prenatal diagnosis and carrier detection in hypophosphatasia. ( 723908 )
1978
472
Prenatal diagnosis of hypophosphatasia; genetic, biochemical, and clinical studies. ( 677124 )
1978
473
Adult hypophosphatasia dominant inheritance in a large kindred. ( 754388 )
1978
474
The urinary excretion of phosphoethanolamine in diseases other than hypophosphatasia. ( 623130 )
1978
475
A patient with hypophosphatasia and hyperprolinaemia. ( 634414 )
1978
476
Prenatal detection of hypophosphatasia: cytological and genetic considerations. ( 117235 )
1978
477
Neonatal hypophosphatasia with elevated serum parathyroid hormone. ( 858308 )
1977
478
Prenatal diagnosis of hypophosphatasia. ( 73053 )
1977
479
Hypophosphatasia: a developmental anomaly of alkaline phosphatase? ( 934730 )
1976
480
Prenatal diagnosis of hypophosphatasia. ( 58381 )
1976
481
Letter: Prenatal diagnosis of hypophosphatasia. ( 58251 )
1976
482
Letter: Prenatal diagnosis of hypophosphatasia. ( 55618 )
1976
483
Prenatal diagnosis of hypophosphatasia. ( 974250 )
1976
484
Hypophosphatasia: a cytochemical study of phosphatase activities. ( 181638 )
1976
485
Hypophosphatasia. Review of 24 cases. ( 1012798 )
1976
486
Hypophosphatasia. A case report. ( 1134078 )
1975
487
Adult hypophosphatasia. ( 167553 )
1975
488
Hypophosphatasia-study on two autopsy cases. ( 1199730 )
1975
489
The diagnosis of the early infantile form of hypophosphatasia tarda. ( 1150259 )
1975
490
Hypophosphatasia: screening and family investigation. ( 4426133 )
1974
491
Hyperparathyroidism in an elderly adult with hypophosphatasia. ( 4837933 )
1974
492
Fatal neonatal dwarfism: examples of thanatophoric dwarfism and of hypophosphatasia. ( 4618133 )
1974
493
Hypophosphatasia with phenylketonuria. ( 4413747 )
1974
494
Childhood hypophosphatasia and the premature loss of teeth. A clinical and laboratory study of seven cases. ( 4512507 )
1973
495
Five cases of hypophosphatasia with dental findings. ( 4203655 )
1973
496
Childhood hypophosphatasia. Clinical and cytogenetic studies. ( 4506889 )
1972
497
Hypophosphatasia: screening and family investigations in an endogamous Hungarian village. ( 5013867 )
1972
498
Hypophosphatasia. ( 5020955 )
1972
499
Histochemical observations of hypophosphatasia. ( 4501472 )
1972
500
Congenital hypophosphatasia. Report on two cases with special reference to phosphoethanolamine excretion. ( 4663897 )
1972
501
Serum alkaline phosphatase in hypophosphatasia. ( 5116205 )
1971
502
Twenty-year follow-up of a case of hypophosphatasia. ( 5173195 )
1971
503
Inorganic pyrophosphate in plasma in normal persons and in patients with hypophosphatasia, osteogenesis imperfecta, and other disorders of bone. ( 4324072 )
1971
504
Radiological case of the month. Hypophosphatasia in the newborn. ( 4327541 )
1971
505
Premature deciduous tooth loss in hypophosphatasia. ( 4316673 )
1970
506
Hypophosphatasia in an adult. ( 4319245 )
1970
507
Hypophosphatasia associated with calcium pyrophosphate dihydrate deposits in cartilage. Report of a case. ( 4317094 )
1970
508
Hypophosphatasia: case reports. ( 4313987 )
1970
509
Ultrastructural features of the root surface of deciduous teeth in patients with hypophosphatasia. ( 4314944 )
1969
510
Hypophosphatasia: a case report. ( 4310771 )
1969
511
Oral manifestations of primary hypophosphatasia. A case report. ( 4311672 )
1969
512
Eye signs of hypophosphatasia. ( 4305610 )
1969
513
Hypophosphatasia: clinical and metabolic studies. ( 4294575 )
1968
514
Studies in hypophosphatasia and response to high phosphate intake. ( 4296178 )
1968
515
Hypophosphatasia: review and report of case. ( 4298819 )
1968
516
Phosphorylethanolamine and hypophosphatasia. ( 4306219 )
1968
517
Intestinal alkaline phosphatase activity in familial hypophosphatasia. ( 4296721 )
1968
518
Hypophosphatasia. Histopathology of human temporal bones. ( 4312121 )
1968
519
Hypophosphatasia in an adult. ( 4291188 )
1967
520
Hypophosphatasia in monozygotic twins. A case report. ( 4289548 )
1967
521
Congenital hypophosphatasia in a Nigerian neonate. ( 4295840 )
1967
522
Hypophosphatasia. ( 5236694 )
1967
523
Hypophosphatasia in an adult. A case report. ( 4292795 )
1967
524
Radiological and microradiographic features in a case of congenital hypophosphatasia. ( 4288487 )
1966
525
Hypophosphatasia. ( 4288607 )
1966
526
Hypophosphatasia: genetic and dental studies. ( 4288761 )
1966
527
Premature loss of deciduous teeth in identical twins with congenital hypophosphatasia. ( 5215520 )
1965
528
CLINICAL AND METABOLIC STUDIES IN HYPOPHOSPHATASIA. ( 14338517 )
1965
529
EXCRETION OF INORGANIC PYROPHOSPHATE IN HYPOPHOSPHATASIA. ( 14337825 )
1965
530
Hypophosphatasia. ( 5825726 )
1965
531
HYPOPHOSPHATASIA. A METABOLIC DISEASE WITH IMPORTANT DENTAL MANIFESTATIONS. ( 14230754 )
1964
532
BAND KERATOPATHY AND CONJUNCTIVAL CALCIFICATION IN HYPOPHOSPHATASIA. ( 14109032 )
1964
533
Ethanolamine phosphate excretion in a family with hypophosphatasia. ( 13949647 )
1963
534
Hypophosphatasia in the Newborn. ( 21032406 )
1963
535
Hypophosphatasia with premature shedding of teeth and aplasia of cementum. ( 14016153 )
1962
536
Apparent dominant inheritance of hypophosphatasia. ( 13912932 )
1962
537
Distribution of alkaline phosphatase in the serum proteins in hypophosphatasia. ( 14458464 )
1962
538
Hypophosphatasia: a genetic study. ( 14490519 )
1961
539
An unusual case of kyphotic paraplegia and hypophosphatasia. ( 13745221 )
1960
540
Hypophosphatasia in the adult. ( 13800162 )
1960
541
Metabolic observations in adult hypophosphatasia. ( 13798349 )
1960
542
Distinguishing hypophosphatasia from cretinism by means of alkaline phosphatase stain of skin biopsy. ( 14425882 )
1960
543
Hypophosphatasia. ( 14407039 )
1960
544
Tissue alkaline phosphatase in hypophosphatasia. ( 14439057 )
1960
545
Hypophosphatasia. ( 14436399 )
1959
546
Hypophosphatasia with congenital dimples. ( 13843859 )
1959
547
A genetical study of ethanolamine phosphate excretion in hypophosphatasia. ( 14399951 )
1959
548
Absence of leukocyte alkaline phosphatase activity in hypophosphatasia. ( 13671091 )
1959
549
The isolation and identification of phosphoethanolamine from the urine of a case of hypophosphatasia. ( 13522611 )
1958
550
Hereditary enzymatic effects as illustrated by hypophosphatasia. ( 13627827 )
1958
551
Hypophosphatasia. ( 13513652 )
1958
552
HYPOPHOSPHATASIA. ( 13575173 )
1958
553
The identification of a ninhydrin-positive urinary component recently reported in hypophosphatasia. ( 13479812 )
1957
554
Hypophosphatasia. ( 13410963 )
1957
555
Hypophosphatasia. ( 13458558 )
1957
556
Hypophosphatasia. ( 13459457 )
1957
557
Treatment of hypophosphatasia with cortisone. ( 13320804 )
1956
558
HYPOPHOSPHATASIA. ( 13276665 )
1956
559
Metabolic abnormalities in hypophosphatasia. ( 13234354 )
1955
560
Congenital Hypophosphatasia. ( 19993867 )
1955
561
Hypophosphatasia: a newly recognized disease. ( 13252548 )
1955
562
The excretion of phosphoethanolamine and hypophosphatasia. ( 13222868 )
1955
563
Hypophosphatasia. ( 14350147 )
1955
564
Hypophosphatasia; a new developmental anomaly. ( 18110134 )
1948
565
Hypophosphatasia: better knowledge for better carea8 ( 29405931 )
0

Variations for Hypophosphatasia

ClinVar genetic disease variations for Hypophosphatasia:

6
(showing 106, show less)
# Gene Variation Type Significance SNP ID Assembly Location
1 ALPL NM_000478.5(ALPL): c.881A> C (p.Asp294Ala) single nucleotide variant Pathogenic rs121918002 GRCh37 Chromosome 1, 21900176: 21900176
2 ALPL NM_000478.5(ALPL): c.881A> C (p.Asp294Ala) single nucleotide variant Pathogenic rs121918002 GRCh38 Chromosome 1, 21573683: 21573683
3 ALPL NM_000478.5(ALPL): c.1133A> T (p.Asp378Val) single nucleotide variant Pathogenic rs121918008 GRCh37 Chromosome 1, 21902361: 21902361
4 ALPL NM_000478.5(ALPL): c.1133A> T (p.Asp378Val) single nucleotide variant Pathogenic rs121918008 GRCh38 Chromosome 1, 21575868: 21575868
5 ALPL NM_000478.5(ALPL): c.1001G> A (p.Gly334Asp) single nucleotide variant Pathogenic/Likely pathogenic rs121918009 GRCh37 Chromosome 1, 21902229: 21902229
6 ALPL NM_000478.5(ALPL): c.1001G> A (p.Gly334Asp) single nucleotide variant Pathogenic/Likely pathogenic rs121918009 GRCh38 Chromosome 1, 21575736: 21575736
7 ALPL NM_000478.5(ALPL): c.571G> A (p.Glu191Lys) single nucleotide variant Pathogenic rs121918007 GRCh37 Chromosome 1, 21890632: 21890632
8 ALPL NM_000478.5(ALPL): c.571G> A (p.Glu191Lys) single nucleotide variant Pathogenic rs121918007 GRCh38 Chromosome 1, 21564139: 21564139
9 ALPL NM_000478.5(ALPL): c.979T> C (p.Phe327Leu) single nucleotide variant Pathogenic/Likely pathogenic rs121918010 GRCh37 Chromosome 1, 21900274: 21900274
10 ALPL NM_000478.5(ALPL): c.979T> C (p.Phe327Leu) single nucleotide variant Pathogenic/Likely pathogenic rs121918010 GRCh38 Chromosome 1, 21573781: 21573781
11 ALPL NM_000478.5(ALPL): c.1559delT (p.Leu520Argfs) deletion Pathogenic rs387906525 GRCh37 Chromosome 1, 21904125: 21904125
12 ALPL NM_000478.5(ALPL): c.1559delT (p.Leu520Argfs) deletion Pathogenic rs387906525 GRCh38 Chromosome 1, 21577632: 21577632
13 ALPL NM_000478.5(ALPL): c.407G> A (p.Arg136His) single nucleotide variant Pathogenic/Likely pathogenic rs121918011 GRCh37 Chromosome 1, 21889712: 21889712
14 ALPL NM_000478.5(ALPL): c.407G> A (p.Arg136His) single nucleotide variant Pathogenic/Likely pathogenic rs121918011 GRCh38 Chromosome 1, 21563219: 21563219
15 ALPL NM_000478.5(ALPL): c.346G> A (p.Ala116Thr) single nucleotide variant Pathogenic/Likely pathogenic rs121918013 GRCh37 Chromosome 1, 21889651: 21889651
16 ALPL NM_000478.5(ALPL): c.346G> A (p.Ala116Thr) single nucleotide variant Pathogenic/Likely pathogenic rs121918013 GRCh38 Chromosome 1, 21563158: 21563158
17 ALPL NM_000478.5(ALPL): c.1565T> C (p.Val522Ala) single nucleotide variant Benign/Likely benign rs34605986 GRCh37 Chromosome 1, 21904131: 21904131
18 ALPL NM_000478.5(ALPL): c.1565T> C (p.Val522Ala) single nucleotide variant Benign/Likely benign rs34605986 GRCh38 Chromosome 1, 21577638: 21577638
19 ALPL NM_000478.5(ALPL): c.455G> A (p.Arg152His) single nucleotide variant Benign/Likely benign rs149344982 GRCh37 Chromosome 1, 21889760: 21889760
20 ALPL NM_000478.5(ALPL): c.455G> A (p.Arg152His) single nucleotide variant Benign/Likely benign rs149344982 GRCh38 Chromosome 1, 21563267: 21563267
21 ALPL NM_000478.5(ALPL): c.787T> C (p.Tyr263His) single nucleotide variant Benign rs3200254 GRCh37 Chromosome 1, 21894735: 21894735
22 ALPL NM_000478.5(ALPL): c.787T> C (p.Tyr263His) single nucleotide variant Benign rs3200254 GRCh38 Chromosome 1, 21568242: 21568242
23 ALPL NM_000478.5(ALPL): c.863-12C> G single nucleotide variant Benign rs75829132 GRCh38 Chromosome 1, 21573653: 21573653
24 ALPL NM_000478.5(ALPL): c.863-12C> G single nucleotide variant Benign rs75829132 GRCh37 Chromosome 1, 21900146: 21900146
25 ALPL NM_000478.5(ALPL): c.863-7T> C single nucleotide variant Benign rs74063111 GRCh38 Chromosome 1, 21573658: 21573658
26 ALPL NM_000478.5(ALPL): c.863-7T> C single nucleotide variant Benign rs74063111 GRCh37 Chromosome 1, 21900151: 21900151
27 ALPL NM_000478.5(ALPL): c.876A> G (p.Pro292=) single nucleotide variant Benign rs3200255 GRCh38 Chromosome 1, 21573678: 21573678
28 ALPL NM_000478.5(ALPL): c.876A> G (p.Pro292=) single nucleotide variant Benign rs3200255 GRCh37 Chromosome 1, 21900171: 21900171
29 ALPL NM_000478.5(ALPL): c.1542G> T (p.Ala514=) single nucleotide variant Likely benign rs3200256 GRCh38 Chromosome 1, 21577615: 21577615
30 ALPL NM_000478.5(ALPL): c.1542G> T (p.Ala514=) single nucleotide variant Likely benign rs3200256 GRCh37 Chromosome 1, 21904108: 21904108
31 ALPL NM_000478.5(ALPL): c.818C> T (p.Thr273Met) single nucleotide variant Conflicting interpretations of pathogenicity rs148405563 GRCh37 Chromosome 1, 21896823: 21896823
32 ALPL NM_000478.5(ALPL): c.818C> T (p.Thr273Met) single nucleotide variant Conflicting interpretations of pathogenicity rs148405563 GRCh38 Chromosome 1, 21570330: 21570330
33 ALPL NM_000478.5(ALPL): c.1002C> T (p.Gly334=) single nucleotide variant Uncertain significance rs370122334 GRCh37 Chromosome 1, 21902230: 21902230
34 ALPL NM_000478.5(ALPL): c.1002C> T (p.Gly334=) single nucleotide variant Uncertain significance rs370122334 GRCh38 Chromosome 1, 21575737: 21575737
35 ALPL NM_000478.5(ALPL): c.-81G> A single nucleotide variant Uncertain significance rs528218843 GRCh37 Chromosome 1, 21880494: 21880494
36 ALPL NM_000478.5(ALPL): c.-81G> A single nucleotide variant Uncertain significance rs528218843 GRCh38 Chromosome 1, 21554001: 21554001
37 ALPL NM_000478.5(ALPL): c.413G> A (p.Arg138Gln) single nucleotide variant Uncertain significance rs140167865 GRCh37 Chromosome 1, 21889718: 21889718
38 ALPL NM_000478.5(ALPL): c.413G> A (p.Arg138Gln) single nucleotide variant Uncertain significance rs140167865 GRCh38 Chromosome 1, 21563225: 21563225
39 ALPL NM_000478.5(ALPL): c.534C> T (p.Tyr178=) single nucleotide variant Likely benign rs201250289 GRCh37 Chromosome 1, 21890595: 21890595
40 ALPL NM_000478.5(ALPL): c.534C> T (p.Tyr178=) single nucleotide variant Likely benign rs201250289 GRCh38 Chromosome 1, 21564102: 21564102
41 ALPL NM_000478.5(ALPL): c.1119C> T (p.Thr373=) single nucleotide variant Likely benign rs112335417 GRCh38 Chromosome 1, 21575854: 21575854
42 ALPL NM_000478.5(ALPL): c.1119C> T (p.Thr373=) single nucleotide variant Likely benign rs112335417 GRCh37 Chromosome 1, 21902347: 21902347
43 ALPL NM_000478.5(ALPL): c.1329G> A (p.Ala443=) single nucleotide variant Uncertain significance rs756394364 GRCh38 Chromosome 1, 21577402: 21577402
44 ALPL NM_000478.5(ALPL): c.1329G> A (p.Ala443=) single nucleotide variant Uncertain significance rs756394364 GRCh37 Chromosome 1, 21903895: 21903895
45 ALPL NM_000478.5(ALPL): c.1381G> A (p.Val461Ile) single nucleotide variant Likely benign rs34810399 GRCh38 Chromosome 1, 21577454: 21577454
46 ALPL NM_000478.5(ALPL): c.1381G> A (p.Val461Ile) single nucleotide variant Likely benign rs34810399 GRCh37 Chromosome 1, 21903947: 21903947
47 ALPL NM_000478.5(ALPL): c.*124delC deletion Likely benign rs886045996 GRCh38 Chromosome 1, 21577772: 21577772
48 ALPL NM_000478.5(ALPL): c.*124delC deletion Likely benign rs886045996 GRCh37 Chromosome 1, 21904265: 21904265
49 ALPL NM_000478.5(ALPL): c.*126A> G single nucleotide variant Benign rs1697406 GRCh38 Chromosome 1, 21577774: 21577774
50 ALPL NM_000478.5(ALPL): c.*126A> G single nucleotide variant Benign rs1697406 GRCh37 Chromosome 1, 21904267: 21904267
51 ALPL NM_000478.5(ALPL): c.*233A> C single nucleotide variant Benign rs1772719 GRCh37 Chromosome 1, 21904374: 21904374
52 ALPL NM_000478.5(ALPL): c.*233A> C single nucleotide variant Benign rs1772719 GRCh38 Chromosome 1, 21577881: 21577881
53 ALPL NM_000478.5(ALPL): c.*460G> A single nucleotide variant Likely benign rs114552089 GRCh38 Chromosome 1, 21578108: 21578108
54 ALPL NM_000478.5(ALPL): c.*460G> A single nucleotide variant Likely benign rs114552089 GRCh37 Chromosome 1, 21904601: 21904601
55 ALPL NM_000478.5(ALPL): c.*480A> C single nucleotide variant Likely benign rs138564953 GRCh38 Chromosome 1, 21578128: 21578128
56 ALPL NM_000478.5(ALPL): c.*480A> C single nucleotide variant Likely benign rs138564953 GRCh37 Chromosome 1, 21904621: 21904621
57 ALPL NM_000478.5(ALPL): c.*685A> T single nucleotide variant Uncertain significance rs78801483 GRCh37 Chromosome 1, 21904826: 21904826
58 ALPL NM_000478.5(ALPL): c.*685A> T single nucleotide variant Uncertain significance rs78801483 GRCh38 Chromosome 1, 21578333: 21578333
59 ALPL NM_000478.5(ALPL): c.*694dupT duplication Likely benign rs886045998 GRCh38 Chromosome 1, 21578342: 21578342
60 ALPL NM_000478.5(ALPL): c.*694dupT duplication Likely benign rs886045998 GRCh37 Chromosome 1, 21904835: 21904835
61 ALPL NM_000478.5(ALPL): c.1425C> T (p.His475=) single nucleotide variant Uncertain significance rs183381346 GRCh38 Chromosome 1, 21577498: 21577498
62 ALPL NM_000478.5(ALPL): c.1425C> T (p.His475=) single nucleotide variant Uncertain significance rs183381346 GRCh37 Chromosome 1, 21903991: 21903991
63 ALPL NM_000478.5(ALPL): c.1542G> A (p.Ala514=) single nucleotide variant Uncertain significance rs3200256 GRCh38 Chromosome 1, 21577615: 21577615
64 ALPL NM_000478.5(ALPL): c.1542G> A (p.Ala514=) single nucleotide variant Uncertain significance rs3200256 GRCh37 Chromosome 1, 21904108: 21904108
65 ALPL NM_000478.5(ALPL): c.*65C> A single nucleotide variant Likely benign rs1697405 GRCh38 Chromosome 1, 21577713: 21577713
66 ALPL NM_000478.5(ALPL): c.*65C> A single nucleotide variant Likely benign rs1697405 GRCh37 Chromosome 1, 21904206: 21904206
67 ALPL NM_000478.5(ALPL): c.*65C> T single nucleotide variant Benign rs1697405 GRCh37 Chromosome 1, 21904206: 21904206
68 ALPL NM_000478.5(ALPL): c.*65C> T single nucleotide variant Benign rs1697405 GRCh38 Chromosome 1, 21577713: 21577713
69 ALPL NM_000478.5(ALPL): c.*66C> A single nucleotide variant Likely benign rs78043671 GRCh38 Chromosome 1, 21577714: 21577714
70 ALPL NM_000478.5(ALPL): c.*66C> A single nucleotide variant Likely benign rs78043671 GRCh37 Chromosome 1, 21904207: 21904207
71 ALPL NM_000478.5(ALPL): c.*343C> T single nucleotide variant Uncertain significance rs886045997 GRCh38 Chromosome 1, 21577991: 21577991
72 ALPL NM_000478.5(ALPL): c.*343C> T single nucleotide variant Uncertain significance rs886045997 GRCh37 Chromosome 1, 21904484: 21904484
73 ALPL NM_000478.5(ALPL): c.*697C> T single nucleotide variant Uncertain significance rs41265991 GRCh38 Chromosome 1, 21578345: 21578345
74 ALPL NM_000478.5(ALPL): c.*697C> T single nucleotide variant Uncertain significance rs41265991 GRCh37 Chromosome 1, 21904838: 21904838
75 ALPL NM_000478.5(ALPL): c.*752A> G single nucleotide variant Uncertain significance rs886045999 GRCh38 Chromosome 1, 21578400: 21578400
76 ALPL NM_000478.5(ALPL): c.*752A> G single nucleotide variant Uncertain significance rs886045999 GRCh37 Chromosome 1, 21904893: 21904893
77 ALPL NM_000478.5(ALPL): c.107C> T (p.Thr36Ile) single nucleotide variant Uncertain significance rs199952414 GRCh37 Chromosome 1, 21887164: 21887164
78 ALPL NM_000478.5(ALPL): c.107C> T (p.Thr36Ile) single nucleotide variant Uncertain significance rs199952414 GRCh38 Chromosome 1, 21560671: 21560671
79 ALPL NM_000478.5(ALPL): c.1131G> A (p.Ala377=) single nucleotide variant Uncertain significance rs777986840 GRCh38 Chromosome 1, 21575866: 21575866
80 ALPL NM_000478.5(ALPL): c.1131G> A (p.Ala377=) single nucleotide variant Uncertain significance rs777986840 GRCh37 Chromosome 1, 21902359: 21902359
81 ALPL NM_000478.5(ALPL): c.1274G> A (p.Gly425Asp) single nucleotide variant Uncertain significance rs781543452 GRCh38 Chromosome 1, 21576606: 21576606
82 ALPL NM_000478.5(ALPL): c.1274G> A (p.Gly425Asp) single nucleotide variant Uncertain significance rs781543452 GRCh37 Chromosome 1, 21903099: 21903099
83 ALPL NM_000478.5(ALPL): c.1506G> A (p.Ser502=) single nucleotide variant Uncertain significance rs751195005 GRCh38 Chromosome 1, 21577579: 21577579
84 ALPL NM_000478.5(ALPL): c.1506G> A (p.Ser502=) single nucleotide variant Uncertain significance rs751195005 GRCh37 Chromosome 1, 21904072: 21904072
85 ALPL NM_000478.5(ALPL): c.*204T> C single nucleotide variant Likely benign rs116162120 GRCh37 Chromosome 1, 21904345: 21904345
86 ALPL NM_000478.5(ALPL): c.*204T> C single nucleotide variant Likely benign rs116162120 GRCh38 Chromosome 1, 21577852: 21577852
87 ALPL NM_000478.5(ALPL): c.*305C> T single nucleotide variant Likely benign rs76073898 GRCh38 Chromosome 1, 21577953: 21577953
88 ALPL NM_000478.5(ALPL): c.*305C> T single nucleotide variant Likely benign rs76073898 GRCh37 Chromosome 1, 21904446: 21904446
89 ALPL NM_000478.5(ALPL): c.*388C> T single nucleotide variant Likely benign rs2242420 GRCh38 Chromosome 1, 21578036: 21578036
90 ALPL NM_000478.5(ALPL): c.*388C> T single nucleotide variant Likely benign rs2242420 GRCh37 Chromosome 1, 21904529: 21904529
91 ALPL NM_000478.5(ALPL): c.*433A> G single nucleotide variant Benign rs2242421 GRCh38 Chromosome 1, 21578081: 21578081
92 ALPL NM_000478.5(ALPL): c.*433A> G single nucleotide variant Benign rs2242421 GRCh37 Chromosome 1, 21904574: 21904574
93 ALPL NM_000478.5(ALPL): c.*473G> T single nucleotide variant Likely benign rs536009840 GRCh38 Chromosome 1, 21578121: 21578121
94 ALPL NM_000478.5(ALPL): c.*473G> T single nucleotide variant Likely benign rs536009840 GRCh37 Chromosome 1, 21904614: 21904614
95 ALPL NM_000478.5(ALPL): c.472+12delG deletion Benign/Likely benign rs35423948 GRCh37 Chromosome 1, 21889789: 21889789
96 ALPL NM_000478.5(ALPL): c.472+12delG deletion Benign/Likely benign rs35423948 GRCh38 Chromosome 1, 21563296: 21563296
97 ALPL NM_000478.5(ALPL): c.648C> T (p.Asp216=) single nucleotide variant Uncertain significance rs201739155 GRCh37 Chromosome 1, 21890709: 21890709
98 ALPL NM_000478.5(ALPL): c.648C> T (p.Asp216=) single nucleotide variant Uncertain significance rs201739155 GRCh38 Chromosome 1, 21564216: 21564216
99 ALPL NM_000478.5(ALPL): c.997+11C> T single nucleotide variant Likely benign rs187255765 GRCh37 Chromosome 1, 21900303: 21900303
100 ALPL NM_000478.5(ALPL): c.997+11C> T single nucleotide variant Likely benign rs187255765 GRCh38 Chromosome 1, 21573810: 21573810
101 ALPL NM_000478.5(ALPL): c.1014C> T (p.His338=) single nucleotide variant Uncertain significance rs147688908 GRCh38 Chromosome 1, 21575749: 21575749
102 ALPL NM_000478.5(ALPL): c.1014C> T (p.His338=) single nucleotide variant Uncertain significance rs147688908 GRCh37 Chromosome 1, 21902242: 21902242
103 ALPL NM_000478.5(ALPL): c.*12C> T single nucleotide variant Uncertain significance rs778673244 GRCh38 Chromosome 1, 21577660: 21577660
104 ALPL NM_000478.5(ALPL): c.*12C> T single nucleotide variant Uncertain significance rs778673244 GRCh37 Chromosome 1, 21904153: 21904153
105 ALPL NM_000478.5(ALPL): c.815G> A (p.Arg272His) single nucleotide variant Likely pathogenic rs781272386 GRCh38 Chromosome 1, 21570327: 21570327
106 ALPL NM_000478.5(ALPL): c.815G> A (p.Arg272His) single nucleotide variant Likely pathogenic rs781272386 GRCh37 Chromosome 1, 21896820: 21896820

Expression for Hypophosphatasia

Search GEO for disease gene expression data for Hypophosphatasia.

Pathways for Hypophosphatasia

Pathways related to Hypophosphatasia according to KEGG:

37 (showing 1, show less)
# Name Kegg Source Accession
1 Folate biosynthesis hsa00790

GO Terms for Hypophosphatasia

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

(showing 5, show less)
# Name GO ID Score Top Affiliating Genes
1 inositol phosphate metabolic process GO:0043647 9.32 PLCB4 PLCG1
2 endochondral ossification GO:0001958 9.26 ALPL RUNX2
3 skeletal system development GO:0001501 9.26 ALPL DSPP PHEX RUNX2
4 response to vitamin D GO:0033280 9.16 ALPL PHEX
5 biomineral tissue development GO:0031214 8.92 ALPL DSPP ENPP1 PHEX

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

(showing 7, show less)
# Name GO ID Score Top Affiliating Genes
1 hydrolase activity GO:0016787 9.63 ALPL ALPP ENPP1 PHEX PLCB4 PLCG1
2 catalytic activity GO:0003824 9.54 ALPL ALPP ENPP1
3 phosphoric diester hydrolase activity GO:0008081 9.4 PLCB4 PLCG1
4 phosphatidylinositol phospholipase C activity GO:0004435 9.32 PLCB4 PLCG1
5 phospholipase C activity GO:0004629 9.26 PLCB4 PLCG1
6 calcium ion binding GO:0005509 9.02 DSPP ENPP1 PLCB4 PLCG1 SPTA1
7 alkaline phosphatase activity GO:0004035 8.96 ALPL ALPP

Sources for Hypophosphatasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....