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:

(show top 50) (show all 67)
# 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

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 (show all 20)
# 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
# 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):


# 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:

(show all 25)
# 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:

(show top 50) (show all 565)
# 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

Variations for Hypophosphatasia

ClinVar genetic disease variations for Hypophosphatasia:

6
(show top 50) (show all 106)
# 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

Expression for Hypophosphatasia

Search GEO for disease gene expression data for Hypophosphatasia.

Pathways for Hypophosphatasia

Pathways related to Hypophosphatasia according to KEGG:

37
# Name Kegg Source Accession
1 Folate biosynthesis hsa00790

GO Terms for Hypophosphatasia

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

# 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:

# 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
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