HPPA
MCID: HYP293
MIFTS: 52

Hypophosphatasia, Adult (HPPA)

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

Aliases & Classifications for Hypophosphatasia, Adult

MalaCards integrated aliases for Hypophosphatasia, Adult:

Name: Hypophosphatasia, Adult 57 13 39
Adult Hypophosphatasia 12 58 29 6 15 70
Odontohypophosphatasia 57 58 29 6 70
Hypophosphatasia, Mild 57 54
Hypophosphatasia 72 70
Adult Phosphoethanolaminuria 58
Mild Hypophosphatasia 12
Adult Rathbun Disease 58
Hppa 57
Hops 72

Characteristics:

Orphanet epidemiological data:

58
odontohypophosphatasia
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Adult;
adult hypophosphatasia
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Adult;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive
autosomal dominant

Miscellaneous:
no skeletal abnormalities in odontohypophosphatasia
rickets and premature primary tooth loss occur in childhood
fractures and dental caries and premature secondary tooth loss occur in adulthood
can be asymptomatic


HPO:

31

Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis
Rare odontological diseases


External Ids:

Disease Ontology 12 DOID:0110913
OMIM® 57 146300
ICD10 via Orphanet 33 E83.3
UMLS via Orphanet 71 C0268413 C1840322
UMLS 70 C0020630 C0268413 C1840322

Summaries for Hypophosphatasia, Adult

UniProtKB/Swiss-Prot : 72 Hypophosphatasia: A metabolic bone disease characterized by defective skeletal mineralization and biochemically by deficient activity of the tissue non-specific isoenzyme of alkaline phosphatase. Four forms are distinguished, depending on the age of onset: perinatal, infantile, childhood and adult type. The perinatal form is the most severe and is almost always fatal. The adult form is mild and characterized by recurrent fractures, osteomalacia, rickets, and loss of teeth. Some cases are asymptomatic, while some patients manifest dental features without skeletal manifestations (odontohypophosphatasia).

MalaCards based summary : Hypophosphatasia, Adult, also known as adult hypophosphatasia, is related to hypophosphatasia, infantile and hypophosphatasia, childhood. An important gene associated with Hypophosphatasia, Adult is ALPL (Alkaline Phosphatase, Biomineralization Associated), and among its related pathways/superpathways is Endochondral Ossification. The drugs Immunoglobulin G and Immunoglobulins have been mentioned in the context of this disorder. Affiliated tissues include bone, liver and kidney, and related phenotypes are carious teeth and rickets

Disease Ontology : 12 A hypophosphatasia that has material basis in a heterozygous or compound heterozygous mutation of ALPL on chromosome 1p36.12.

More information from OMIM: 146300

Related Diseases for Hypophosphatasia, Adult

Diseases in the Hypophosphatasia family:

Hypophosphatasia, Adult Hypophosphatasia, Infantile

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

(show top 50) (show all 242)
# Related Disease Score Top Affiliating Genes
1 hypophosphatasia, infantile 30.8 PHOSPHO1 KHDRBS3 ENPP1 ALPL
2 hypophosphatasia, childhood 30.5 PTH PHOSPHO1 ENPP1 ALPL
3 craniosynostosis 30.2 ENPP1 ANKH ALPL
4 osteomalacia 30.2 PTH ENPP1 ALPL
5 osteochondrodysplasia 30.0 PTH ANKH ALPL
6 arthropathy 29.9 ANKH ALPL
7 rickets 29.8 PTH ENPP1 ALPL
8 calcinosis 29.8 ENPP1 ANKH
9 chondrocalcinosis 29.7 ENPP1 ANKH ALPL
10 hypophosphatemia 29.5 PTH ENPP1 ALPL
11 hypophosphatemic rickets, x-linked dominant 29.5 PTH ENPP1 ALPL
12 hyperostosis 29.5 ANKH ALPL
13 bone disease 29.4 PTH ANKH ALPL
14 spondyloarthropathy 1 29.3 PTH ANKH
15 ankylosis 29.2 PHOSPHO1 ENPP1 ANKH
16 pseudoxanthoma elasticum 29.2 ENPP1 ANKH ALPL
17 enthesopathy 29.1 PTH ENPP1 ANKH
18 uremia 29.1 PTH ENPP1
19 periarthritis 28.8 PHOSPHO1 ENPP1 ANKH ALPL
20 arterial calcification of infancy 28.6 PHOSPHO1 ENPP1 ANKH ALPL
21 hypophosphatasia 28.0 PTH PHOSPHO1 KHDRBS3 ENPP1 ANKH ALPL
22 prenatal benign hypophosphatasia 11.0
23 multiple congenital anomalies-hypotonia-seizures syndrome 3 10.9
24 atelosteogenesis, type i 10.9
25 boomerang dysplasia 10.9
26 dentin dysplasia, type i 10.9
27 respiratory failure 10.4
28 nephrocalcinosis 10.4
29 seizure disorder 10.3
30 hypotonia 10.2
31 dwarfism 10.2
32 periodontitis 10.2
33 cleidocranial dysplasia 10.1
34 autosomal recessive disease 10.1
35 dental caries 10.1
36 sleep disorder 10.1
37 cleidocranial dysplasia spectrum disorder 10.1
38 encephalopathy 10.1
39 polykaryocytosis inducer 10.1
40 non-alcoholic fatty liver disease 10.1
41 hepatitis c 10.1
42 osteomyelitis 10.0
43 root resorption 10.0
44 chronic pain 10.0
45 hyperphosphatemia 10.0
46 triiodothyronine receptor auxiliary protein 10.0
47 leukemia, acute myeloid 10.0
48 hepatitis c virus 10.0
49 bronchitis 10.0
50 campomelic dysplasia 10.0

Graphical network of the top 20 diseases related to Hypophosphatasia, Adult:



Diseases related to Hypophosphatasia, Adult

Symptoms & Phenotypes for Hypophosphatasia, Adult

Human phenotypes related to Hypophosphatasia, Adult:

31 (show all 11)
# Description HPO Frequency HPO Source Accession
1 carious teeth 31 HP:0000670
2 rickets 31 HP:0002748
3 osteomalacia 31 HP:0002749
4 recurrent fractures 31 HP:0002757
5 chondrocalcinosis 31 HP:0000934
6 premature loss of primary teeth 31 HP:0006323
7 pathologic fracture 31 HP:0002756
8 arthropathy 31 HP:0003040
9 low alkaline phosphatase 31 HP:0003282
10 premature loss of permanent teeth 31 HP:0006357
11 abnormal foot morphology 31 HP:0001760

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Teeth:
premature loss of primary teeth
severe dental caries
premature loss of secondary teeth
decreased alveolar bone
enlarged pulp chamber

Skeletal Limbs:
long bone pseudofractures (hypophosphatasia only)
calcium pyrophosphate arthropathy (hypophosphatasia only)
chondrocalcinosis (hypophosphatasia only)

Laboratory Abnormalities:
decreased serum alkaline phosphatase
elevated urinary phosphoethanolamine

Skeletal:
recurrent fractures (hypophosphatasia only)
pathologic fractures (hypophosphatasia only)
osteomalacia (hypophosphatasia only)
rickets (hypophosphatasia only)

Skeletal Feet:
metatarsal stress fracture (hypophosphatasia only)

Clinical features from OMIM®:

146300 (Updated 20-May-2021)

MGI Mouse Phenotypes related to Hypophosphatasia, Adult:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.46 ALPL ANKH ENPP1 PTH
2 limbs/digits/tail MP:0005371 9.35 ALPL ANKH ENPP1 PHOSPHO1 PTH
3 skeleton MP:0005390 9.02 ALPL ANKH ENPP1 PHOSPHO1 PTH

Drugs & Therapeutics for Hypophosphatasia, Adult

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Immunoglobulin G Phase 2
2 Immunoglobulins Phase 2
3 Immunologic Factors Phase 2
4 Immunoglobulins, Intravenous Phase 2
5 Antibodies Phase 2

Interventional clinical trials:

(show all 29)
# Name Status NCT ID Phase Drugs
1 A Multicenter, Post-Approval Clinical Study for Asfotase Alfa (Human Recombinant Tissue-nonspecific Alkaline Phosphatase Fusion Protein) Treatment for Patients With Hypophosphatasia (HPP) in Japan Completed NCT02531867 Phase 4
2 A Phase 4, Randomized, Multicenter, Open-Label, 2-Dosage Regimen, Safety and Tolerability, Efficacy, Pharmacokinetic, and Pharmacodynamic Study of Asfotase Alfa in Adult Patients With Pediatric-Onset Hypophosphatasia Withdrawn NCT04189315 Phase 4 asfotase alfa
3 An Open-Label, Multicenter, Multinational Study of the Safety, Efficacy and Pharmacokinetics of Asfotase Alfa (Human Recombinant Tissue-nonspecific Alkaline Phosphatase Fusion Protein) in Infants and Children ≤ 5 Years of Age With Hypophosphatasia (HPP) Completed NCT01176266 Phase 2, Phase 3 asfotase alfa
4 A Multicenter Study of the Safety and Efficacy of Asfotase Alfa (ALXN1215) (Human Recombinant Tissue Nonspecific Alkaline Phosphatase Fusion Protein) in Patients With Hypophosphatasia (HPP) Completed NCT02456038 Phase 2 Asfotase Alfa (ALXN1215)
5 A Randomized, Open-Label, Multicenter, Multinational, Dose-Ranging, Historical Control Study of the Safety, Efficacy, Pharmacokinetics, and Pharmacodynamics of ENB-0040 (Human Recombinant Tissue Nonspecific Alkaline Phosphatase Fusion Protein) in Children With Hypophosphatasia (HPP) Completed NCT00952484 Phase 2
6 Extension Study of Protocol ENB-006-09 Evaluating the Long-term Safety and Efficacy of Asfotase Alfa (Human Recombinant Tissue Nonspecific Alkaline Phosphatase Fusion Protein) in Children With Hypophosphatasia (HPP) Completed NCT01203826 Phase 2
7 A Phase 2a, Randomized, Multicenter, Open-Label, Pharmacokinetic, and Dose Response Study of Asfotase Alfa in Adult Patients With Pediatric-Onset Hypophosphatasia Completed NCT02797821 Phase 2 Asfotase alfa
8 A Randomized, Open-Label, Multicenter, Multinational, Dose-Ranging, Concurrent Control Study of the Safety, Efficacy, Pharmacokinetic of ENB-0040 (Human Recombinant Tissue Nonspecific Alkaline Phosphatase Fusion Protein) in Adolescents and Adults With Hypophosphatasia (HPP) Completed NCT01163149 Phase 2 asfotase alfa;asfotase alfa
9 A Multicenter, Open-Label Study of the Safety, Tolerability and Pharmacology of Asfotase Alfa in up to 10 Severely Affected Patients With for the Treatment of Severely Affected Patients With Infantile Hypophosphatasia (HPP) Completed NCT00744042 Phase 1, Phase 2
10 An Open-label, Intra-patient Dose-escalation Study to Evaluate the Safety and Tolerability, Pharmacokinetics, Pharmacodynamics and Preliminary Efficacy of Multiple Infusions of BPS804 in Adults With Hypophosphatasia (HPP). Completed NCT01406977 Phase 2 BPS804
11 Extension Study of ENB-0040 (Human Recombinant Tissue-Nonspecific Alkaline Phosphatase Fusion Protein) in Severely Affected Infants and Young Children With Hypophosphatasia (HPP) Completed NCT01205152 Phase 2
12 Single-Center, Case-Control Study of Safety, Efficacy and Pharmacokinetics of ENB-0040 (Human Recombinant Tissue Nonspecific Alkaline Phosphatase Fusion Protein) for Treatment of Hypophosphatasia in Children Withdrawn NCT00894075 Phase 2
13 A Multicenter, Open-Label, Dose Escalating Study of the Safety, Tolerability and Pharmacology of Human Recombinant Tissue Non-Specific Alkaline Phosphatase Fusion Protein Asfotase Alfa in Adults With Hypophosphatasia (HPP) Completed NCT00739505 Phase 1
14 An Open-label, Multicenter, Expanded Access Program for Asfotase Alfa (Human Recombinant Tissue-nonspecific Alkaline Phosphatase Fusion Protein) Treatment for Patients With Infantile- or Juvenile-onset Hypophosphatasia (HPP) Approved for marketing NCT02496689
15 Health Burden of Hypophosphatasia Completed NCT02751801
16 A Retrospective, Non-interventional Epidemiologic Study of the Natural History of Patients With Severe Perinatal and Infantile Hypophosphatasia (HPP) Completed NCT01419028
17 A Retrospective, Non-interventional, Epidemiologic Study of the Natural History of Patients With Juvenile-onset Hypophosphatasia (HPP) Completed NCT02104219
18 Non-interventional, Prospective, Single-center Investigation With Exploratory Data Analysis to Delineate the Variability and Frequency of Symptoms and Disease Manifestations in Adult HPP Patients Completed NCT02291497
19 A Single-Center, Non-interventional Substudy of ALX-HPP-502 to Assess Functional Natural History Data of Patients With Juvenile Historical Controls in ENB-006-09 Completed NCT02235493
20 Characterisation of Adult-Onset Hypophosphatasia Recruiting NCT02796885
21 Natural History Study of Adult and Pediatric Patients With Hypophosphatasia Recruiting NCT02237625
22 Circulating miRNAs and Bone Microstructure in Adults With Hypophosphatasia Recruiting NCT04018287
23 Coordination of Rare Diseases at Sanford Recruiting NCT01793168
24 Evaluation of Bone Architecture and Bone Strength in Adults With Hypophosphatasia (HPP) Active, not recruiting NCT04181164
25 Biomarker for Hypophosphatasia Disease AN INTERNATIONAL, MULTICENTER, EPIDEMIOLOGICAL PROTOCOL Active, not recruiting NCT02603042
26 An Observational, Longitudinal Study to Evaluate and Monitor Physical Performance of Adults Treated With Asfotase Alfa for Pediatric-Onset Hypophosphatasia Enrolling by invitation NCT03418389
27 A Prospective Study to Evaluate the Patient Reported Quality of Life Prior to and After Strensiq® Treatment in Adults With Pediatric Onset Hypophosphatasia Enrolling by invitation NCT04195763 asfotase alfa
28 An Observational, Longitudinal, Prospective, Long-Term Registry Of Patients With Hypophosphatasia (HPP) Enrolling by invitation NCT02306720
29 Clinical Consequences of Adults Presenting With hyPophOsphatasia With Special Focus on Gait, Bone micRosTRucture And cognITion: The PORTRAIT Study Suspended NCT04222452

Search NIH Clinical Center for Hypophosphatasia, Adult

Genetic Tests for Hypophosphatasia, Adult

Genetic tests related to Hypophosphatasia, Adult:

# Genetic test Affiliating Genes
1 Adult Hypophosphatasia 29 ALPL
2 Odontohypophosphatasia 29

Anatomical Context for Hypophosphatasia, Adult

MalaCards organs/tissues related to Hypophosphatasia, Adult:

40
Bone, Liver, Kidney, Skin, Lung, Adrenal Gland, Myeloid

Publications for Hypophosphatasia, Adult

Articles related to Hypophosphatasia, Adult:

(show top 50) (show all 79)
# Title Authors PMID Year
1
Adult hypophosphatasia treated with teriparatide. 61 6 57
17213282 2007
2
Different missense mutations at the tissue-nonspecific alkaline phosphatase gene locus in autosomal recessively inherited forms of mild and severe hypophosphatasia. 61 6 57
1409720 1992
3
Molecular study of three cases of odontohypophosphatasia resulting from heterozygosity for mutations in the tissue non-specific alkaline phosphatase gene. 6 57
12920074 2003
4
A molecular approach to dominance in hypophosphatasia. 57 6
11479741 2001
5
Characterization of a family with dominant hypophosphatasia. 6 57
10872988 2000
6
Mild autosomal dominant hypophosphatasia: in utero presentation in two families. 6 57
10508980 1999
7
Hypophosphatasia: clinicopathologic comparison of the infantile, childhood, and adult forms. 57 61
6690884 1984
8
Adult hypophosphatasia with chondrocalcinosis and arthropathy. Variable penetrance of hypophosphatasemia in a large Oklahoma kindred. 57 61
7072744 1982
9
Adult hypophosphatasia: generalized deficiency of alkaline phosphatase activity demonstrated with cultured skin fibroblasts. 57 61
7182980 1982
10
Heterogeneity of adult hypophosphatasia. Report of severe and mild cases. 57 61
7235780 1981
11
Adult hypophosphatasia. Clinical, laboratory, and genetic investigation of a large kindred with review of the literature. 61 57
481194 1979
12
Adult hypophosphatasia dominant inheritance in a large kindred. 57 61
754388 1978
13
Functional assay of the mutant tissue-nonspecific alkaline phosphatase gene using U2OS osteoblast-like cells. 6
18455459 2008
14
A new mechanism of dominance in hypophosphatasia: the mutated protein can disturb the cell localization of the wild-type protein. 6
18340466 2008
15
Cleidocranial dysplasia with decreased bone density and biochemical findings of hypophosphatasia. 57
12424590 2002
16
Severe cleidocranial dysplasia can mimic hypophosphatasia. 57
12424591 2002
17
Evidence of a founder effect for the tissue-nonspecific alkaline phosphatase (TNSALP) gene E174K mutation in hypophosphatasia patients. 6
12357339 2002
18
Mild hypophosphatasia mimicking severe osteogenesis imperfecta in utero: bent but not broken. 57
10508985 1999
19
Hypophosphatasia: a family study involving a case diagnosed from gingival crevicular fluid. 57
1432739 1992
20
Phenotypically dissimilar hypophosphatasia in two sibships. 57
1308350 1992
21
Markedly increased circulating pyridoxal-5'-phosphate levels in hypophosphatasia. Alkaline phosphatase acts in vitamin B6 metabolism. 57
4031070 1985
22
Pyrophosphate arthropathy in hypophosphatasia. 57
6261701 1981
23
[Qualitative and quantitative examinations of the isoenzymes of serum alkaline phosphatase in hypophosphatasia patients (author's transl)]. 57
4798670 1973
24
Hypophosphatasia in an adult. 57
4319245 1970
25
Intestinal alkaline phosphatase activity in familial hypophosphatasia. 57
4296721 1968
26
Hypophosphatasia. 57
13410963 1957
27
Bone mineral density and fracture risk in adult patients with hypophosphatasia. 61
32879991 2021
28
Establishing race-, gender- and age-specific reference intervals for pyridoxal 5'-phosphate in the NHANES population to better identify adult hypophosphatasia. 61
32791332 2020
29
A novel de novo heterozygous ALPL nonsense mutation associated with adult hypophosphatasia. 61
32572521 2020
30
Adult hypophosphatasia manifests in a marathon runner. 61
32912883 2020
31
Adult hypophosphatasia with a novel ALPL mutation: Report of an Indian kindred. 61
32025537 2020
32
Atypical Tibial Fracture in a 63-Year-Old Woman With Intermittent Use of Bisphosphonate Unmasking Hypophosphatasia. 61
31663063 2019
33
A novel combination of biallelic ALPL mutations associated with adult hypophosphatasia: A phenotype-genotype association and computational analysis study. 61
31077853 2019
34
Adult hypophosphatasia with compound heterozygous p.Phe327Leu missense and c.1559delT frameshift mutations in tissue-nonspecific alkaline phosphatase gene: a case report. 61
31014398 2019
35
Four novel mutations in the ALPL gene in Chinese patients with odonto, childhood, and adult hypophosphatasia. 61
29724887 2018
36
Teriparatide treatment in an adult patient with hypophosphatasia exposed to bisphosphonate and revealed by bilateral atypical fractures. 61
29246529 2018
37
Clinical, radiographic and biochemical characteristics of adult hypophosphatasia. 61
28547134 2017
38
Atypical femur fractures: a distinctive tract of adult hypophosphatasia. 61
29354161 2017
39
Recognizing the clinical triad and dural calcification in adult hypophosphatasia. 61
27994097 2017
40
Adult hypophosphatasia. 61
29405936 2017
41
ADULT HYPOPHOSPHATASIA TREATED WITH TERIPARATIDE: REPORT OF 2 PATIENTS AND REVIEW OF THE LITERATURE. 61
27042741 2016
42
Hypophosphatasia and the risk of atypical femur fractures: a case-control study. 61
27507156 2016
43
Adult hypophosphatasia. 61
26962706 2016
44
Osteomalacia with low alkaline phosphatase: a not so rare condition with important consequences. 61
26823351 2016
45
Genetically Modified Mice for Studying TNAP Function. 61
26219706 2015
46
Adult hypophosphatasia with painful periarticular calcification treated with surgical resection. 61
22167380 2012
47
"Atypical femoral fractures" during bisphosphonate exposure in adult hypophosphatasia. 61
22322541 2012
48
Failure of teriparatide in treatment of bone complications of adult hypophosphatasia. 61
22218563 2012
49
Skeletal mineralization defects in adult hypophosphatasia--a clinical and histological analysis. 61
21267545 2011
50
Parathyroid hormone treatment improves pain and fracture healing in adult hypophosphatasia. 61
20739387 2010

Variations for Hypophosphatasia, Adult

ClinVar genetic disease variations for Hypophosphatasia, Adult:

6 (show all 36)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ALPL NM_000478.6(ALPL):c.323C>T (p.Pro108Leu) SNV Pathogenic 13680 rs121918015 GRCh37: 1:21889628-21889628
GRCh38: 1:21563135-21563135
2 ALPL NM_000478.6(ALPL):c.746G>T (p.Gly249Val) SNV Pathogenic 13682 rs121918018 GRCh37: 1:21894694-21894694
GRCh38: 1:21568201-21568201
3 ALPL NM_000478.6(ALPL):c.400_401delinsCA (p.Thr134His) Indel Pathogenic 188877 rs786204530 GRCh37: 1:21889705-21889706
GRCh38: 1:21563212-21563213
4 ALPL NM_000478.6(ALPL):c.1471G>A (p.Gly491Arg) SNV Pathogenic 551446 rs1413274209 GRCh37: 1:21904037-21904037
GRCh38: 1:21577544-21577544
5 ALPL NM_000478.6(ALPL):c.331G>A (p.Ala111Thr) SNV Pathogenic 829876 rs773257111 GRCh37: 1:21889636-21889636
GRCh38: 1:21563143-21563143
6 ALPL NM_000478.6(ALPL):c.571G>T (p.Glu191Ter) SNV Pathogenic 931472 GRCh37: 1:21890632-21890632
GRCh38: 1:21564139-21564139
7 ALPL NM_000478.6(ALPL):c.500C>T (p.Thr167Met) SNV Pathogenic 975901 GRCh37: 1:21890561-21890561
GRCh38: 1:21564068-21564068
8 ALPL NM_000478.6(ALPL):c.1190-2A>T SNV Pathogenic 976090 GRCh37: 1:21903013-21903013
GRCh38: 1:21576520-21576520
9 ALPL NM_000478.6(ALPL):c.1283G>C (p.Arg428Pro) SNV Pathogenic 992375 GRCh37: 1:21903108-21903108
GRCh38: 1:21576615-21576615
10 ALPL NM_000478.6(ALPL):c.881A>C (p.Asp294Ala) SNV Pathogenic 13664 rs121918002 GRCh37: 1:21900176-21900176
GRCh38: 1:21573683-21573683
11 ALPL NM_000478.6(ALPL):c.571G>A (p.Glu191Lys) SNV Pathogenic 13670 rs121918007 GRCh37: 1:21890632-21890632
GRCh38: 1:21564139-21564139
12 ALPL NM_000478.6(ALPL):c.1133A>T (p.Asp378Val) SNV Pathogenic 13671 rs121918008 GRCh37: 1:21902361-21902361
GRCh38: 1:21575868-21575868
13 ALPL NM_000478.6(ALPL):c.346G>A (p.Ala116Thr) SNV Pathogenic 13677 rs121918013 GRCh37: 1:21889651-21889651
GRCh38: 1:21563158-21563158
14 ALPL NM_000478.6(ALPL):c.346G>A (p.Ala116Thr) SNV Pathogenic 13677 rs121918013 GRCh37: 1:21889651-21889651
GRCh38: 1:21563158-21563158
15 ALPL NM_000478.6(ALPL):c.571G>A (p.Glu191Lys) SNV Pathogenic 13670 rs121918007 GRCh37: 1:21890632-21890632
GRCh38: 1:21564139-21564139
16 ALPL NM_000478.6(ALPL):c.1001G>A (p.Gly334Asp) SNV Pathogenic 13672 rs121918009 GRCh37: 1:21902229-21902229
GRCh38: 1:21575736-21575736
17 ALPL NM_000478.6(ALPL):c.1133A>T (p.Asp378Val) SNV Pathogenic 13671 rs121918008 GRCh37: 1:21902361-21902361
GRCh38: 1:21575868-21575868
18 ALPL NM_000478.6(ALPL):c.407G>A (p.Arg136His) SNV Pathogenic 13675 rs121918011 GRCh37: 1:21889712-21889712
GRCh38: 1:21563219-21563219
19 ALPL NM_000478.6(ALPL):c.1001G>A (p.Gly334Asp) SNV Pathogenic 13672 rs121918009 GRCh37: 1:21902229-21902229
GRCh38: 1:21575736-21575736
20 ALPL NM_000478.6(ALPL):c.571G>A (p.Glu191Lys) SNV Pathogenic 13670 rs121918007 GRCh37: 1:21890632-21890632
GRCh38: 1:21564139-21564139
21 ALPL NM_000478.6(ALPL):c.1250A>G (p.Asn417Ser) SNV Pathogenic 13679 rs121918014 GRCh37: 1:21903075-21903075
GRCh38: 1:21576582-21576582
22 ALPL NM_000478.6(ALPL):c.979T>C (p.Phe327Leu) SNV Likely pathogenic 13673 rs121918010 GRCh37: 1:21900274-21900274
GRCh38: 1:21573781-21573781
23 ALPL NM_000478.6(ALPL):c.1182dup (p.Ile395fs) Duplication Likely pathogenic 632629 rs754826836 GRCh37: 1:21902409-21902410
GRCh38: 1:21575916-21575917
24 ALPL NM_000478.6(ALPL):c.500C>A (p.Thr167Lys) SNV Likely pathogenic 975889 GRCh37: 1:21890561-21890561
GRCh38: 1:21564068-21564068
25 ALPL NM_000478.6(ALPL):c.997+2T>A SNV Likely pathogenic 930227 GRCh37: 1:21900294-21900294
GRCh38: 1:21573801-21573801
26 ALPL NM_000478.6(ALPL):c.542C>T (p.Ser181Leu) SNV Likely pathogenic 188798 rs199590449 GRCh37: 1:21890603-21890603
GRCh38: 1:21564110-21564110
27 ALPL NM_000478.6(ALPL):c.568_570del (p.Asn190del) Deletion Likely pathogenic 930907 GRCh37: 1:21890627-21890629
GRCh38: 1:21564134-21564136
28 ALPL NM_000478.6(ALPL):c.526G>A (p.Ala176Thr) SNV Likely pathogenic 13683 rs121918019 GRCh37: 1:21890587-21890587
GRCh38: 1:21564094-21564094
29 ALPL NM_000478.6(ALPL):c.1171C>T (p.Arg391Cys) SNV Likely pathogenic 550442 rs371243939 GRCh37: 1:21902399-21902399
GRCh38: 1:21575906-21575906
30 ALPL NM_000478.6(ALPL):c.1400T>C (p.Met467Thr) SNV Uncertain significance 930908 GRCh37: 1:21903966-21903966
GRCh38: 1:21577473-21577473
31 ALPL NM_000478.6(ALPL):c.119C>T (p.Ala40Val) SNV Uncertain significance 975919 GRCh37: 1:21887176-21887176
GRCh38: 1:21560683-21560683
32 ALPL NM_000478.6(ALPL):c.341C>T (p.Ala114Val) SNV Uncertain significance 976384 GRCh37: 1:21889646-21889646
GRCh38: 1:21563153-21563153
33 ALPL NM_000478.6(ALPL):c.1331A>G (p.Gln444Arg) SNV Uncertain significance 976385 GRCh37: 1:21903897-21903897
GRCh38: 1:21577404-21577404
34 ALPL NM_000478.6(ALPL):c.406C>T (p.Arg136Cys) SNV Uncertain significance 964572 GRCh37: 1:21889711-21889711
GRCh38: 1:21563218-21563218
35 ALPL NM_000478.6(ALPL):c.1171del (p.Arg391fs) Deletion Uncertain significance 632628 rs751404811 GRCh37: 1:21902394-21902394
GRCh38: 1:21575901-21575901
36 ALPL NM_000478.6(ALPL):c.297G>A (p.Lys99=) SNV Uncertain significance 976088 GRCh37: 1:21887705-21887705
GRCh38: 1:21561212-21561212

UniProtKB/Swiss-Prot genetic disease variations for Hypophosphatasia, Adult:

72 (show top 50) (show all 98)
# Symbol AA change Variation ID SNP ID
1 ALPL p.Ala33Val VAR_006147 rs121918005
2 ALPL p.Met62Leu VAR_006148
3 ALPL p.Arg71Cys VAR_006149 rs121918001
4 ALPL p.Arg71Pro VAR_006150 rs121918003
5 ALPL p.Ala111Thr VAR_006151 rs773257111
6 ALPL p.Arg136His VAR_006152 rs121918011
7 ALPL p.Gly162Val VAR_006153 rs121918012
8 ALPL p.His171Tyr VAR_006154
9 ALPL p.Ala177Thr VAR_006155 rs199669988
10 ALPL p.Ala179Thr VAR_006156 rs121918000
11 ALPL p.Glu191Gly VAR_006157
12 ALPL p.Glu191Lys VAR_006158 rs121918007
13 ALPL p.Cys201Tyr VAR_006159
14 ALPL p.Gln207Pro VAR_006160 rs121918004
15 ALPL p.Leu289Phe VAR_006162
16 ALPL p.Asp294Ala VAR_006163 rs121918002
17 ALPL p.Asp306Val VAR_006164
18 ALPL p.Phe327Leu VAR_006165 rs121918010
19 ALPL p.Gly334Asp VAR_006166 rs121918009
20 ALPL p.Asp378Val VAR_006167 rs121918008
21 ALPL p.Val382Ile VAR_006168 rs771540767
22 ALPL p.Tyr436His VAR_006169 rs121918006
23 ALPL p.Glu476Lys VAR_006170
24 ALPL p.Ala40Val VAR_011081 rs770093969
25 ALPL p.Thr134Asn VAR_011082 rs780583917
26 ALPL p.Ala176Thr VAR_011083 rs121918019
27 ALPL p.Arg246Ser VAR_011085 rs122314282
28 ALPL p.Ala348Thr VAR_011086 rs155341456
29 ALPL p.His381Arg VAR_011087
30 ALPL p.Asp406Gly VAR_011088
31 ALPL p.Arg450His VAR_011090 rs150799088
32 ALPL p.Asn478Ile VAR_011092
33 ALPL p.Cys489Ser VAR_011093
34 ALPL p.Ala132Val VAR_013146
35 ALPL p.Ala51Val VAR_013973 rs147038926
36 ALPL p.Gly63Val VAR_013974
37 ALPL p.Arg71His VAR_013975 rs121918003
38 ALPL p.Gly75Ser VAR_013976 rs130439444
39 ALPL p.Ala116Thr VAR_013977 rs121918013
40 ALPL p.Gly120Arg VAR_013978 rs954135116
41 ALPL p.Gly129Arg VAR_013979
42 ALPL p.Asn170Asp VAR_013981
43 ALPL p.Ser181Leu VAR_013982 rs199590449
44 ALPL p.Arg184Trp VAR_013983 rs763159520
45 ALPL p.Asn211Asp VAR_013984
46 ALPL p.Gly220Val VAR_013985
47 ALPL p.Arg223Trp VAR_013986 rs766076920
48 ALPL p.Glu235Gly VAR_013987
49 ALPL p.Gly249Val VAR_013988 rs121918018
50 ALPL p.Glu291Lys VAR_013989 rs786204473

Expression for Hypophosphatasia, Adult

Search GEO for disease gene expression data for Hypophosphatasia, Adult.

Pathways for Hypophosphatasia, Adult

Pathways related to Hypophosphatasia, Adult according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.61 PTH ENPP1 ALPL

GO Terms for Hypophosphatasia, Adult

Cellular components related to Hypophosphatasia, Adult according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular membrane-bounded organelle GO:0065010 8.62 PHOSPHO1 ALPL

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

# Name GO ID Score Top Affiliating Genes
1 biomineral tissue development GO:0031214 9.37 ENPP1 ALPL
2 skeletal system development GO:0001501 9.33 PTH ANKH ALPL
3 endochondral ossification GO:0001958 9.32 PHOSPHO1 ALPL
4 response to vitamin D GO:0033280 9.26 PTH ALPL
5 inorganic diphosphate transport GO:0030505 8.96 ENPP1 ANKH
6 regulation of bone mineralization GO:0030500 8.8 PHOSPHO1 ENPP1 ANKH

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

# Name GO ID Score Top Affiliating Genes
1 pyrophosphatase activity GO:0016462 8.62 PHOSPHO1 ALPL

Sources for Hypophosphatasia, Adult

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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