MCID: HYP035
MIFTS: 57

Hypophosphatasia

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

Aliases & Classifications for Hypophosphatasia

MalaCards integrated aliases for Hypophosphatasia:

Name: Hypophosphatasia 12 77 25 54 26 60 38 30 56 6 45 15 74
Phosphoethanolaminuria 54 26 60
Deficiency of Alkaline Phosphatase 12 26
Childhood Hypophosphatasia 12 74
Rathburn Disease 54 60
Hypophosphatasia, Childhood 45
Infantile Hypophosphatasia 74
Hypophospatasia, Childhood 12
Phosphoethanol-Aminuria 54
Hypophosphatasia Mild 54
Hpp 60

Characteristics:

Orphanet epidemiological data:

60
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
KEGG 38 H00213
NCIt 51 C26798
SNOMED-CT 69 30174008 70848009
ICD10 34 E83.39
MESH via Orphanet 46 D007014
ICD10 via Orphanet 35 E83.3
UMLS via Orphanet 75 C0020630
Orphanet 60 ORPHA436

Summaries for Hypophosphatasia

NIH Rare Diseases : 54 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, constipation and vomiting. An important gene associated with Hypophosphatasia is ALPL (Alkaline Phosphatase, Biomineralization Associated), and among its related pathways/superpathways are Folate biosynthesis and NAD metabolism. The drugs Immunologic Factors and Antibodies have been mentioned in the context of this disorder. Affiliated tissues include bone, skin and lung, and related phenotypes are bowing of the long bones and abnormality of the dentition

Genetics Home Reference : 26 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 : 77 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 80)
# Related Disease Score Top Affiliating Genes
1 hypophosphatasia, childhood 34.4 ALPL SPTA1
2 hypophosphatasia, infantile 34.1 ALPL ALPP SPTA1
3 hypophosphatasia, adult 34.0 ALPL ENPP1 SPTA1
4 cleidocranial dysplasia 30.4 ALPL RUNX2
5 chondrocalcinosis 30.1 ALPL ENPP1
6 bone disease 30.1 ALPL ALPP RUNX2
7 hyperphosphatemia 29.9 PHEX RUNX2
8 osteomalacia 29.8 ALPL PHEX
9 rickets 29.8 ALPL ENPP1 PHEX
10 hypophosphatemia 29.4 DSPP ENPP1 PHEX
11 pyropoikilocytosis, hereditary 12.2
12 prenatal benign hypophosphatasia 12.1
13 multiple congenital anomalies-hypotonia-seizures syndrome 3 11.1
14 atelosteogenesis, type i 11.1
15 boomerang dysplasia 11.1
16 dentin dysplasia, type i 11.1
17 tick infestation 10.3 ALPL ALPP
18 testis seminoma 10.2 ALPL ALPP
19 craniosynostosis 10.2
20 ossification of the posterior longitudinal ligament of spine 10.2 ENPP1 RUNX2
21 hyperuricemia 10.2
22 autosomal recessive hypophosphatemic rickets 10.2 ENPP1 PHEX
23 arterial calcification of infancy 10.1 ENPP1 PHEX
24 intracranial hypertension, idiopathic 10.1
25 brittle bone disorder 10.1
26 col1a1/2-related osteogenesis imperfecta 10.1
27 seizure disorder 10.1
28 hypochondrogenesis 10.1 ALPL SPTA1
29 calcinosis 10.1 ENPP1 PHEX
30 hypophosphatemic rickets with hypercalciuria, hereditary 10.1 ENPP1 PHEX
31 joint disorders 10.0
32 osteomyelitis 10.0
33 renal osteodystrophy 10.0
34 hyperparathyroidism 10.0
35 periarthritis 10.0
36 periodontal disease 10.0
37 arthropathy 10.0
38 myopathy 10.0
39 periodontitis 10.0
40 rheumatoid arthritis 10.0
41 arthritis 10.0
42 pemphigus foliaceus 10.0
43 gout 10.0
44 interstitial lung disease 10.0
45 lung disease 10.0
46 psoriasis 10.0
47 osseous heteroplasia, progressive 10.0 ALPP ENPP1 RUNX2
48 ankylosis 10.0 PLCB4 RUNX2
49 bone remodeling disease 10.0 PHEX RUNX2
50 dentin caries 10.0 ALPP DSPP

Graphical network of the top 20 diseases related to Hypophosphatasia:



Diseases related to Hypophosphatasia

Symptoms & Phenotypes for Hypophosphatasia

Human phenotypes related to Hypophosphatasia:

60 33 (show all 20)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 bowing of the long bones 60 33 hallmark (90%) Very frequent (99-80%) HP:0006487
2 abnormality of the dentition 60 33 hallmark (90%) Very frequent (99-80%) HP:0000164
3 short stature 60 33 hallmark (90%) Very frequent (99-80%) HP:0004322
4 feeding difficulties in infancy 60 33 hallmark (90%) Very frequent (99-80%) HP:0008872
5 emphysema 60 33 hallmark (90%) Very frequent (99-80%) HP:0002097
6 abnormality of the metaphysis 60 33 hallmark (90%) Very frequent (99-80%) HP:0000944
7 narrow chest 60 33 hallmark (90%) Very frequent (99-80%) HP:0000774
8 failure to thrive in infancy 60 33 hallmark (90%) Very frequent (99-80%) HP:0001531
9 abnormality of the ribs 60 33 hallmark (90%) Very frequent (99-80%) HP:0000772
10 large fontanelles 60 33 hallmark (90%) Very frequent (99-80%) HP:0000239
11 skin dimple over apex of long bone angulation 60 33 hallmark (90%) Very frequent (99-80%) HP:0001024
12 craniosynostosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0001363
13 seizures 60 33 frequent (33%) Frequent (79-30%) HP:0001250
14 muscular hypotonia 60 33 frequent (33%) Frequent (79-30%) HP:0001252
15 respiratory insufficiency 60 33 frequent (33%) Frequent (79-30%) HP:0002093
16 anemia 60 33 frequent (33%) Frequent (79-30%) HP:0001903
17 irritability 60 33 frequent (33%) Frequent (79-30%) HP:0000737
18 recurrent fractures 60 33 frequent (33%) Frequent (79-30%) HP:0002757
19 hypercalcemia 60 33 frequent (33%) Frequent (79-30%) HP:0003072
20 skin dimples 60 Very frequent (99-80%)

UMLS symptoms related to Hypophosphatasia:


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

MGI Mouse Phenotypes related to Hypophosphatasia:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.8 ALPL ENPP1 PHEX PLCG1 RUNX2 SPTA1
2 growth/size/body region MP:0005378 9.7 ALPL ENPP1 PHEX PLCB4 PLCG1 RUNX2
3 digestive/alimentary MP:0005381 9.65 ALPL PHEX PLCG1 RUNX2 SPTA1
4 mortality/aging MP:0010768 9.5 ALPL ENPP1 PHEX PLCB4 PLCG1 RUNX2
5 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 Immunologic Factors Phase 4,Phase 2,Phase 3,Phase 1
2 Antibodies Phase 4,Phase 2,Phase 3,Phase 1
3 Immunoglobulins Phase 4,Phase 2,Phase 3,Phase 1
4 Immunoglobulin G 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 Health Burden of Hypophosphatasia Completed NCT02751801
15 A Retrospective Study of the Natural History of Patients With Severe Perinatal and Infantile Hypophosphatasia (HPP) Completed NCT01419028
16 Retrospective, Non-interventional Natural History of Patients With Juvenile-onset Hypophosphatasia (HPP) Completed NCT02104219
17 Burden of Disease in Hypophosphatasia (HPP) Completed NCT02291497
18 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
19 Biomarker for Hypophosphatasia Disease (BioHypophos) Recruiting NCT02603042
20 Natural History Study of Patients With Hypophosphatasia (HPP) Recruiting NCT02237625
21 Characterisation of Adult-Onset Hypophosphatasia Recruiting NCT02796885
22 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168
23 Evaluate and Monitor Physical Performance of Adults Treated With Asfotase Alfa for Hypophosphatasia Enrolling by invitation NCT03418389
24 An Observational, Longitudinal, Prospective, Long-Term Registry Of Patients With Hypophosphatasia (HPP) Enrolling by invitation NCT02306720
25 Tissue-nonspecific Alkaline Phosphatase in Phosphate and Pyrophosphate Homeostasis. Not yet recruiting NCT03520738 Not Applicable

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 30 ALPL

Anatomical Context for Hypophosphatasia

MalaCards organs/tissues related to Hypophosphatasia:

42
Bone, Skin, Lung, Kidney, Liver, Testes, Bone Marrow

Publications for Hypophosphatasia

Articles related to Hypophosphatasia:

(show top 50) (show all 600)
# Title Authors Year
1
Correction to: Neurological Symptoms in Hypophosphatasia. ( 30255226 )
2019
2
Differential diagnosis of perinatal hypophosphatasia: radiologic perspectives. ( 30284005 )
2019
3
A homozygous missense variant in the alkaline phosphatase gene ALPL is associated with a severe form of canine hypophosphatasia. ( 30700765 )
2019
4
Diagnostic delay is common among patients with hypophosphatasia: initial findings from a longitudinal, prospective, global registry. ( 30764793 )
2019
5
High prevalence of hypophosphatasia in Southern Israel. ( 30788858 )
2019
6
Efficacy and Safety of Asfotase Alfa in Infants and Young Children With Hypophosphatasia: a Phase 2 Open-Label Study. ( 30811537 )
2019
7
No vascular calcification on cardiac computed tomography spanning asfotase alfa treatment for an elderly woman with hypophosphatasia. ( 30825650 )
2019
8
A rare mutation in hypophosphatasia: a case report of adult form and review of the literature. ( 30864637 )
2019
9
Hypophosphatasia: Canadian update on diagnosis and management. ( 30915507 )
2019
10
Hypophosphatasia: Novel Mutation Associated With An Atypical Newborn Presentation ( 30929401 )
2019
11
Ectopic Ocular Surface Calcification in Patients With Hypophosphatasia Treated With Asfotase Alfa. ( 30969260 )
2019
12
Recurrent abducens nerve palsy and hypophosphatasia syndrome. ( 30975772 )
2019
13
Lethal perinatal hypophosphatasia caused by a novel compound heterozygous mutation: a case report. ( 30979366 )
2019
14
Natural History of Perinatal and Infantile Hypophosphatasia: A Retrospective Study. ( 30979546 )
2019
15
Findings of amplitude-integrated electroencephalogram recordings and serum vitamin B6 metabolites in perinatal lethal hypophosphatasia during enzyme replacement therapy. ( 31000369 )
2019
16
Adult hypophosphatasia with compound heterozygous p.Phe327Leu missense and c.1559delT frameshift mutations in tissue-nonspecific alkaline phosphatase gene: a case report. ( 31014398 )
2019
17
Frequency and age at occurrence of clinical manifestations of disease in patients with hypophosphatasia: a systematic literature review. ( 31023354 )
2019
18
A novel combination of biallelic ALPL mutations associated with adult hypophosphatasia: A phenotype-genotype association and computational analysis study. ( 31077853 )
2019
19
ANNALS EXPRESS: Late Diagnosis of Hypophosphatasia in a case with Unverricht-Lundborg disease. ( 31088113 )
2019
20
Neurological symptoms in Hypophosphatasia. ( 30215116 )
2019
21
Fracture Healing in Two Adult Patients With Hypophosphatasia After Asfotase Alfa Therapy. ( 30283912 )
2018
22
Profile of asfotase alfa in the treatment of hypophosphatasia: design, development, and place in therapy. ( 30288020 )
2018
23
HYPOPHOSPHATASIA: CLINICAL ASSESSMENT AND MANAGEMENT IN THE ADULT PATIENT-A NARRATIVE REVIEW. ( 30289311 )
2018
24
Hypophosphatasia: A rare disorder. ( 30422875 )
2018
25
Genetic engineering a large animal model of human hypophosphatasia in sheep. ( 30446691 )
2018
26
Perinatal form hypophosphatasia caused by a novel large duplication of ALPL gene and one year follow-up under enzyme replacement therapy; a case report. ( 30468149 )
2018
27
Improvement of bone microarchitecture parameters after 12 months of treatment with asfotase alfa in adult patient with hypophosphatasia: Case report. ( 30508901 )
2018
28
Neonatal lethal hypophosphatasia: A case report and review of literature. ( 30508915 )
2018
29
Alkaline Phosphatase Controls Lineage Switching of Mesenchymal Stem Cells by Regulating the LRP6/GSK3β Complex in Hypophosphatasia. ( 30555565 )
2018
30
Asfotase alfa treatment in perinatal and infantile hypophosphatasia: safe and sustained efficacy. ( 30558908 )
2018
31
Asfotase alfa for infants and young children with hypophosphatasia: 7 year outcomes of a single-arm, open-label, phase 2 extension trial. ( 30558909 )
2018
32
Five-year efficacy and safety of asfotase alfa therapy for adults and adolescents with hypophosphatasia. ( 30576866 )
2018
33
Hypophosphatasia in Adults: Clinical Spectrum and Its Association With Genetics and Metabolic Substrates. ( 30655187 )
2018
34
Asfotase alfa for hypophosphatasia. ( 30670890 )
2018
35
Identification of hypophosphatasia in a clinical setting: Clinical manifestations and diagnostic recommendations in adult patients. ( 28755823 )
2018
36
Could Alerting Physicians for Low Alkaline Phosphatase Levels Be Helpful in Early Diagnosis of Hypophosphatasia? ( 28766503 )
2018
37
Infantile hypophosphatasia combined with vitamin B6-responsive seizures and reticular formation lesions on magnetic resonance imaging: A case report. ( 28802630 )
2018
38
Hypophosphatasia. ( 28939177 )
2018
39
Asfotase alfa treatment for 1 year in a 16 year-old male with severe childhood hypophosphatasia. ( 29046930 )
2018
40
Enzyme replacement therapy in perinatal hypophosphatasia: Case report of a negative outcome and lessons for clinical practice. ( 29159075 )
2018
41
Discordant fetal phenotype of hypophosphatasia in two siblings. ( 29160033 )
2018
42
Teriparatide treatment in an adult patient with hypophosphatasia exposed to bisphosphonate and revealed by bilateral atypical fractures. ( 29246529 )
2018
43
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
44
Hypophosphatasia: Biochemical hallmarks validate the expanded pediatric clinical nosology. ( 29360619 )
2018
45
Rare Variants in the Gene ALPL That Cause Hypophosphatasia Are Strongly Associated With Ovarian and Uterine Disorders. ( 29659871 )
2018
46
Four novel mutations in the ALPL gene in Chinese patients with odonto, childhood, and adult hypophosphatasia. ( 29724887 )
2018
47
Subtrochanteric and diaphyseal femoral fractures in hypophosphatasia-not atypical at all. ( 29774402 )
2018
48
Brief Clinical Report: Hypophosphatasia-Diagnostic Considerations and Treatment Outcomes in an Infant. ( 29808151 )
2018
49
Low serum alkaline phosphatase activity due to asymptomatic hypophosphatasia in a teenage girl. ( 29958879 )
2018
50
Reappearance of hypomineralized bone after discontinuation of asfotase alfa treatment for severe childhood hypophosphatasia. ( 29967930 )
2018

Variations for Hypophosphatasia

ClinVar genetic disease variations for Hypophosphatasia:

6 (show top 50) (show all 108)
# Gene Variation Type Significance SNP ID Assembly Location
1 ALPL NM_000478.4(ALPL): c.571G> A (p.Glu191Lys) single nucleotide variant Pathogenic/Likely pathogenic rs121918007 GRCh37 Chromosome 1, 21890632: 21890632
2 ALPL NM_000478.4(ALPL): c.571G> A (p.Glu191Lys) single nucleotide variant Pathogenic/Likely pathogenic rs121918007 GRCh38 Chromosome 1, 21564139: 21564139
3 ALPL NM_000478.4(ALPL): c.1133A> T (p.Asp378Val) single nucleotide variant Pathogenic rs121918008 GRCh37 Chromosome 1, 21902361: 21902361
4 ALPL NM_000478.5(ALPL): c.881A> C (p.Asp294Ala) single nucleotide variant Pathogenic rs121918002 GRCh37 Chromosome 1, 21900176: 21900176
5 ALPL NM_000478.5(ALPL): c.881A> C (p.Asp294Ala) single nucleotide variant Pathogenic rs121918002 GRCh38 Chromosome 1, 21573683: 21573683
6 ALPL NM_000478.4(ALPL): c.1133A> T (p.Asp378Val) single nucleotide variant Pathogenic rs121918008 GRCh38 Chromosome 1, 21575868: 21575868
7 ALPL NM_000478.5(ALPL): c.1001G> A (p.Gly334Asp) single nucleotide variant Pathogenic/Likely pathogenic rs121918009 GRCh37 Chromosome 1, 21902229: 21902229
8 ALPL NM_000478.5(ALPL): c.1001G> A (p.Gly334Asp) single nucleotide variant Pathogenic/Likely pathogenic rs121918009 GRCh38 Chromosome 1, 21575736: 21575736
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_000478.6(ALPL): c.407G> A (p.Arg136His) single nucleotide variant Pathogenic/Likely pathogenic rs121918011 GRCh37 Chromosome 1, 21889712: 21889712
14 ALPL NM_000478.6(ALPL): c.407G> A (p.Arg136His) single nucleotide variant Pathogenic/Likely pathogenic rs121918011 GRCh38 Chromosome 1, 21563219: 21563219
15 ALPL NM_000478.4(ALPL): c.346G> A (p.Ala116Thr) single nucleotide variant Pathogenic/Likely pathogenic rs121918013 GRCh37 Chromosome 1, 21889651: 21889651
16 ALPL NM_000478.4(ALPL): c.346G> A (p.Ala116Thr) single nucleotide variant Pathogenic/Likely pathogenic rs121918013 GRCh38 Chromosome 1, 21563158: 21563158
17 ALPL NM_000478.4(ALPL): c.1565T> C (p.Val522Ala) single nucleotide variant Benign/Likely benign rs34605986 GRCh37 Chromosome 1, 21904131: 21904131
18 ALPL NM_000478.4(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 Benign/Likely benign rs3200256 GRCh38 Chromosome 1, 21577615: 21577615
30 ALPL NM_000478.5(ALPL): c.1542G> T (p.Ala514=) single nucleotide variant Benign/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_000478.4(ALPL): c.1002C> T (p.Gly334=) single nucleotide variant Uncertain significance rs370122334 GRCh37 Chromosome 1, 21902230: 21902230
34 ALPL NM_000478.4(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_000478.4(ALPL): c.534C> T (p.Tyr178=) single nucleotide variant Likely benign rs201250289 GRCh37 Chromosome 1, 21890595: 21890595
40 ALPL NM_000478.4(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 Benign/Likely benign rs112335417 GRCh38 Chromosome 1, 21575854: 21575854
42 ALPL NM_000478.5(ALPL): c.1119C> T (p.Thr373=) single nucleotide variant Benign/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 Benign/Likely benign rs34810399 GRCh38 Chromosome 1, 21577454: 21577454
46 ALPL NM_000478.5(ALPL): c.1381G> A (p.Val461Ile) single nucleotide variant Benign/Likely benign rs34810399 GRCh37 Chromosome 1, 21903947: 21903947
47 ALPL NM_000478.5(ALPL): c.*124delC deletion Likely benign rs140511985 GRCh38 Chromosome 1, 21577772: 21577772
48 ALPL NM_000478.5(ALPL): c.*124delC deletion Likely benign rs140511985 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:

38
# 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 modulation of chemical synaptic transmission GO:0050804 9.37 PLCB4 PLCG1
2 inositol phosphate metabolic process GO:0043647 9.32 PLCB4 PLCG1
3 endochondral ossification GO:0001958 9.26 ALPL RUNX2
4 skeletal system development GO:0001501 9.26 ALPL DSPP PHEX RUNX2
5 response to vitamin D GO:0033280 9.16 ALPL PHEX
6 response to mechanical stimulus GO:0009612 9.1 DSPP
7 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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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