HOPSI
MCID: HYP292
MIFTS: 55

Hypophosphatasia, Infantile (HOPSI)

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

Aliases & Classifications for Hypophosphatasia, Infantile

MalaCards integrated aliases for Hypophosphatasia, Infantile:

Name: Hypophosphatasia, Infantile 57 13 54 39
Infantile Hypophosphatasia 12 58 29 6 15 70
Hypophosphatasia, Perinatal Lethal 6 70
Phosphoethanolaminuria 57 12
Hops 57 12
Perinatal Lethal Phosphoethanolaminuria 58
Perinatal Lethal Hypophosphatasia 58
Perinatal Lethal Rathbun Disease 58
Infantile Phosphoethanolaminuria 58
Hypophosphatasia Infantile Type 72
Infantile Rathbun Disease 58
Hopsi 72

Characteristics:

Orphanet epidemiological data:

58
perinatal lethal hypophosphatasia
Inheritance: Autosomal recessive; Age of onset: Antenatal,Neonatal;
infantile hypophosphatasia
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 05-Apr-2021)
Miscellaneous:
fever of unknown origin
stillborn or infantile death usual in prenatal form
four separate types - (1) severe perinatal ('lethal') form, (2) severe infantile form, (3) childhood form, and (4) adult form
death frequent in severe infantile form
severe infantile form presents before 6 months

Inheritance:
autosomal recessive


HPO:

31
hypophosphatasia, infantile:
Onset and clinical course death in infancy stillbirth
Inheritance autosomal recessive inheritance


Classifications:

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


Summaries for Hypophosphatasia, Infantile

UniProtKB/Swiss-Prot : 72 Hypophosphatasia infantile type: A severe bone disease characterized by defective skeletal mineralization and biochemically by deficient activity of the tissue non-specific isoenzyme of alkaline phosphatase. Three more or less distinct types of infantile hypophosphatasia can be identified: (1) type 1 with onset in utero or in early postnatal life, craniostenosis, severe skeletal abnormalities, hypercalcemia, and death in the first year or so of life; (2) type 2 with later, more gradual development of symptoms, moderately severe 'rachitic' skeletal changes and premature loss of teeth; (3) type 3 with no symptoms, the condition being determined on routine studies.

MalaCards based summary : Hypophosphatasia, Infantile, also known as infantile hypophosphatasia, is related to hypophosphatasia, childhood and hypophosphatasia, and has symptoms including seizures, constipation and vomiting. An important gene associated with Hypophosphatasia, Infantile is ALPL (Alkaline Phosphatase, Biomineralization Associated), and among its related pathways/superpathways are NAD metabolism and Biosynthesis of cofactors. The drugs Grape and Ginger have been mentioned in the context of this disorder. Affiliated tissues include bone, kidney and liver, and related phenotypes are failure to thrive and constipation

Disease Ontology : 12 A hypophosphatasia that has material basis in homozygous or compound heterozygosity mutation in the gene encoding tissue-nonspecific alkaline phosphatase (ALPL) on chromosome 1p36.

OMIM® : 57 Hypophosphatasia is an inborn error of metabolism characterized clinically by defective bone mineralization and biochemically by deficient activity of the tissue-nonspecific isoenzyme of alkaline phosphatase. Fraser (1957) classified forms of hypophosphatasia according to age of onset: perinatal, infantile, childhood (241510), and adult (146300). Whyte (1988) indicated a fifth form of hypophosphatasia with primarily only dental manifestations, referred to as odontohypophosphatasia (see 146300). All of these forms are allelic. (241500) (Updated 05-Apr-2021)

Related Diseases for Hypophosphatasia, Infantile

Diseases in the Hypophosphatasia family:

Hypophosphatasia, Adult Hypophosphatasia, Infantile

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

(show top 50) (show all 128)
# Related Disease Score Top Affiliating Genes
1 hypophosphatasia, childhood 31.4 PHOSPHO1 ENPP1 ALPL
2 hypophosphatasia 31.2 PNPO PHOSPHO1 KHDRBS3 ENPP1 ALPP ALPL
3 hypophosphatasia, adult 31.0 PHOSPHO1 KHDRBS3 ENPP1 ALPL
4 rickets 30.6 ENPP1 ALPP ALPL
5 osteomalacia 30.3 ENPP1 ALPP ALPL
6 autoimmune lymphoproliferative syndrome 29.9 CD4 ALPP ALPL
7 prenatal benign hypophosphatasia 10.9
8 seizure disorder 10.3
9 respiratory failure 10.3
10 bone disease 10.3
11 dwarfism 10.2
12 nephrocalcinosis 10.2
13 craniosynostosis 10.2
14 hyperprolinemia 10.2 PNPO ALDH4A1
15 hypercalcemia, infantile, 1 10.2
16 hypotonia 10.2
17 sleep disorder 10.1
18 hepatic tuberculosis 10.1 CD4 ALPP
19 calcification of joints and arteries 10.1 ENPP1 ALPL
20 polykaryocytosis inducer 10.1
21 non-alcoholic fatty liver disease 10.1
22 hepatitis c 10.1
23 osteogenesis imperfecta, type ii 10.1
24 achondrogenesis 10.1
25 hypochondrogenesis 10.1
26 polyhydramnios 10.1
27 skeletal dysplasias 10.1
28 hyperphosphatemia 10.1
29 scoliosis 10.1
30 hyperparathyroidism 10.1
31 bursitis 10.0 PHOSPHO1 ALPL
32 chondrocalcinosis 10.0 ENPP1 ALPL
33 triiodothyronine receptor auxiliary protein 10.0
34 leukemia, acute myeloid 10.0
35 hepatitis c virus 10.0
36 bronchitis 10.0
37 hypercementosis 10.0 PHOSPHO1 ENPP1
38 craniometaphyseal dysplasia, autosomal dominant 10.0 ENPP1 ALPL
39 burkitt lymphoma 9.9
40 attention deficit-hyperactivity disorder 9.9
41 arthrogryposis, renal dysfunction, and cholestasis 1 9.9
42 pancreatic cancer 9.9
43 ataxia and polyneuropathy, adult-onset 9.9
44 fatty liver disease, nonalcoholic 1 9.9
45 pachyonychia congenita 3 9.9
46 bone resorption disease 9.9
47 rapidly involuting congenital hemangioma 9.9
48 glucose intolerance 9.9
49 cholestasis 9.9
50 urticaria 9.9

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



Diseases related to Hypophosphatasia, Infantile

Symptoms & Phenotypes for Hypophosphatasia, Infantile

Human phenotypes related to Hypophosphatasia, Infantile:

31 (show all 38)
# Description HPO Frequency HPO Source Accession
1 failure to thrive 31 HP:0001508
2 constipation 31 HP:0002019
3 recurrent respiratory infections 31 HP:0002205
4 abnormality of the dentition 31 HP:0000164
5 vomiting 31 HP:0002013
6 fever 31 HP:0001945
7 anemia 31 HP:0001903
8 irritability 31 HP:0000737
9 anorexia 31 HP:0002039
10 polyhydramnios 31 HP:0001561
11 nephrocalcinosis 31 HP:0000121
12 platyspondyly 31 HP:0000926
13 abnormality of the voice 31 HP:0001608
14 hypercalciuria 31 HP:0002150
15 apnea 31 HP:0002104
16 hypercalcemia 31 HP:0003072
17 intracranial hemorrhage 31 HP:0002170
18 skin dimple over apex of long bone angulation 31 HP:0001024
19 craniosynostosis 31 HP:0001363
20 micromelia 31 HP:0002983
21 blue sclerae 31 HP:0000592
22 decreased calvarial ossification 31 HP:0005474
23 disproportionate short-limb short stature 31 HP:0008873
24 short lower limbs 31 HP:0006385
25 increased susceptibility to fractures 31 HP:0002659
26 generalized hypotonia 31 HP:0001290
27 vertebral clefting 31 HP:0008428
28 short ribs 31 HP:0000773
29 metaphyseal cupping 31 HP:0003021
30 bowing of the legs 31 HP:0002979
31 widely patent fontanelles and sutures 31 HP:0004492
32 rachitic rosary 31 HP:0000897
33 seizure 31 HP:0001250
34 hypotonia 31 HP:0001252
35 unossified vertebral bodies 31 HP:0004606
36 phosphoethanolaminuria 31 HP:0003239
37 elevated urine pyrophosphate 31 HP:0003491
38 elevated plasma pyrophosphate 31 HP:0011864

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
seizures
irritability
intracranial hemorrhage
hypotonia

Abdomen Gastrointestinal:
constipation
vomiting
anorexia

Prenatal Manifestations Amniotic Fluid:
polyhydramnios

Skeletal Spine:
platyspondyly
vertebral bodies often unossified
vertebral clefts

Skin Nails Hair Skin:
skin dimple over apex of long bone angulation

Chest Ribs Sternum Clavicles And Scapulae:
short ribs
rachitic rosary
small thoracic cage
rib fractures
clavicles least affected bone

Growth Height:
short limb dwarfism

Head And Neck Teeth:
poorly formed teeth

Voice:
high pitched cry

Prenatal Manifestations Delivery:
stillborn or infantile death usual in prenatal form

Growth Other:
failure to thrive

Respiratory:
recurrent respiratory infections
apnea

Genitourinary Kidneys:
nephrocalcinosis

Laboratory Abnormalities:
hypercalciuria
hypercalcemia
phosphoethanolaminuria
elevated plasma and urine inorganic pyrophosphate (ppi)
decreased tissue and serum alkaline phosphatase
more
Skeletal Limbs:
micromelia
metaphyseal cupping
osteogenesis defect
bowed, short lower extremities
'spurs' in midshaft of ulna and fibula

Skeletal:
fractures
lack of ossification
marked retardation of infantile form

Head And Neck Eyes:
blue sclera

Skeletal Skull:
poorly mineralized cranium
widened cranial sutures
craniosynostosis in infantile form

Hematology:
myelophthisic anemia

Clinical features from OMIM®:

241500 (Updated 05-Apr-2021)

UMLS symptoms related to Hypophosphatasia, Infantile:


seizures; constipation; vomiting; apnea; fever of unknown origin

Drugs & Therapeutics for Hypophosphatasia, Infantile

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

(show all 45)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Grape Approved Phase 4
2 Ginger Approved Phase 4
3
Blueberry Approved Phase 4
4
Rosemary Experimental Phase 4
5
Vinpocetine Investigational Phase 4 42971-09-5 443955
6 Vaccines Phase 4
7 Omega 3 Fatty Acid Phase 4
8 Ashwagandha Phase 4
9
Hydroxyurea Approved Phase 3 127-07-1 3657
10
Vitamin C Approved, Nutraceutical Phase 2, Phase 3 50-81-7 5785 54670067
11 Vitamins Phase 2, Phase 3
12 Anti-Inflammatory Agents Phase 2, Phase 3
13
Methyltestosterone Approved Phase 1, Phase 2 58-18-4 6010
14
Testosterone Approved, Investigational Phase 1, Phase 2 58-22-0 6013
15
Testosterone undecanoate Approved, Investigational Phase 1, Phase 2 5949-44-0
16
Testosterone enanthate Approved Phase 1, Phase 2 315-37-7 9416
17
Coal tar Approved Phase 1, Phase 2 8007-45-2
18
Medroxyprogesterone acetate Approved, Investigational Phase 1, Phase 2 71-58-9
19 Acyline Investigational Phase 1, Phase 2 170157-13-8
20 Immunologic Factors Phase 1, Phase 2
21 Immunoglobulins Phase 1, Phase 2
22 Immunoglobulin G Phase 1, Phase 2
23 Antibodies Phase 1, Phase 2
24 Immunoglobulins, Intravenous Phase 1, Phase 2
25 Hormone Antagonists Phase 1, Phase 2
26 Contraceptive Agents Phase 1, Phase 2
27 Hormones Phase 1, Phase 2
28 Contraceptives, Oral Phase 1, Phase 2
29
Medroxyprogesterone Phase 1, Phase 2 520-85-4 10631
30 Antineoplastic Agents, Hormonal Phase 1, Phase 2
31 Contraceptive Agents, Male Phase 1, Phase 2
32 Testosterone 17 beta-cypionate Phase 1, Phase 2
33 Androgens Phase 1, Phase 2
34 Chorionic Gonadotropin Phase 1, Phase 2
35
tannic acid Approved 1401-55-4
36
Benzocaine Approved, Investigational 1994-09-7, 94-09-7 2337
37 Hops Approved
38
Vitamin D Approved, Nutraceutical, Vet_approved 1406-16-2
39 Hawthorn
40 English Lavender
41 8-prenylnaringenin
42 Phytoestrogens
43 Calciferol
44 Calcium, Dietary
45
Calcium Nutraceutical 7440-70-2 271

Interventional clinical trials:

(show top 50) (show all 60)
# Name Status NCT ID Phase Drugs
1 Study of Immune Responses After Vaccination Against Seasonal Influenza Virus and Against Influenza H1N1-v Pandemic Virus in a Clinical Staff (FLU-HOP) Unknown status NCT01063608 Phase 4
2 A Single-Center, Open-label Study to Assess the Efficacy of Cognitex in Elderly Subjects With Memory Impairment Completed NCT00719953 Phase 4
3 Effect of an Integrative Medicine Approach to the Management of Asthma in Adults on Quality of Life and Clinical Outcomes Completed NCT00843544 Phase 2, Phase 3
4 Influencing Adolescent Girls With Internalizing Problems With Creative Dance Twice Weekly. A Randomised, Controlled Study Completed NCT01523561 Phase 3
5 Hydroxyurea Optimization Through Precision Study (HOPS): A Prospective, Multi-center, Randomized Trial of Personalized, Pharmacokinetics-guided Dosing of Hydroxyurea Versus Standard Weight-based Dosing for Children With Sickle Cell Anemia. Recruiting NCT03789591 Phase 3 Hydroxyurea
6 Examining the Effectiveness of a Critical Time Intervention to Stabilize Trajectories Out of Homelessness for Youth Not yet recruiting NCT04755361 Phase 2, Phase 3
7 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
8 Male Hormonal Contraception Development: Suppression of Spermatogenesis With the Addition of a Potent GnRH Antagonist (Acyline) to Testosterone and DMPA (ACY-5) -Sub-Study (HOP 5) Completed NCT00156650 Phase 1, Phase 2 Acyline;Testosterone Gel;Depo-Medroxyprogesterone
9 Manipulation of the Intratesticular Hormonal Milieu With Exogenous Testosterone (Short Title (HOP-3) Completed NCT00839319 Phase 1, Phase 2 Acyline;hCG (human chorionic gonadotropin);hCG (human chorionic gonadotropin);hCG (human chorionic gonadotropin);Testosterone gel
10 The Effectiveness of a Novel Warm-up in Decreasing Risk Factors for Anterior Cruciate Ligament Injury in Female Youth Soccer Players Completed NCT01591941 Phase 2
11 Is Kinesio Taping Better Than Placebo Taping for Improving Performance During Unilateral Vertical Jump and Hop Tests? Protocol Study for a Randomized, Placebo-controlled, Double-blind, Clinical Trials. Unknown status NCT02560961 Phase 1
12 Prevention of Oxidative DNA Damage by Xanthohumol Completed NCT02432651 Phase 1 6 mg xanthohumol per day;12 mg xanthohumol per day;24 mg xanthohumol per day;Placebo
13 Ph 1 Dose-Escalation Study of Safety and Immunogenicity of 3 Injections, at 0, 6, 2 Wks, of Group B Meningococcal 8570 HOPS-G NOMV Vaccine Adm Intramuscularly to Healthy Subjects at 10, 25, 50, 75 μg With Adjuvant Completed NCT00678652 Phase 1
14 Mechanical Perturbation Training for ACL Injury Prevention Unknown status NCT03080402
15 Multicenter Prospective Observational Study to Investigate the Effectiveness of a Food Supplement Made of Hop in the Improvement of Menopausal Symptoms Unknown status NCT03875430
16 What is the Functional Status of Anterior Cruciate Ligament Reconstruction (ACLR) Patients at Discharge From Rehabilitation Unknown status NCT03047187
17 The Effect of High Impact Exercise on Bone and Articular Cartilage in Post-menopausal Women Unknown status NCT03225703
18 A Comparison of a Dance Programme Delivered With the XBOX Kinect With Traditional Agility Ladder Drills on Agility Scores of Club Level Volleyball Players of the University of the West Indies, Mona Completed NCT02370368
19 Short Term Bed Rest Study: Evaluation of the Use of Artificial Gravity, Induced by Short-arm Centrifugation or the Appliance of Definite Combined Training Program to Counteract Effects of Bed Rest (Acronym: SAG Study) Completed NCT01820702
20 A Retrospective, Non-interventional Epidemiologic Study of the Natural History of Patients With Severe Perinatal and Infantile Hypophosphatasia (HPP) Completed NCT01419028
21 Organizational Skills Interventions for Children With ADHD Completed NCT01176136
22 Balance Training vs. Balance Training w/ STARS Completed NCT01790581
23 Efficacy of Balance Training by Biodex Balance System on Gait Parameters and Balance in Patients With Recurrent Lateral Ankle Sprain Completed NCT04773990
24 A Comparison of 12 Month Daily Wear of Two Novel Hyper-Oxygen Permeable Silicone Hydrogel Contact Lenses (HOP/SiH) and A Control, Standard Oxygen Permeable Lens; and, 30-Night Versus 6-Night Immediate Extended Wear of Two HOP/SiH Lenses. Completed NCT00344643
25 Effects of 6 Weeks Plyometric Training on Vertical Jump and Agility in Relation to Gender Among Badminton Players Completed NCT04717206
26 Post - Activation Potentiation Following Acute Bouts of Plyometric Versus Heavy Resistance Exercise in Collegiate Soccer Players Completed NCT03150277
27 Investigation of the Acute Cognitive, Mood and Autonomic Effects of Hops in Healthy Participants Completed NCT01376869
28 Pilot Open Non-Comparative Study To Evaluate In Special Care Setting The Administration Of A New Nutraceutical Associated With Sleep Hygiene Guidelines In Subjects Affected By Persistent Mild Sleep Disorders Completed NCT04245761
29 The Effects of Unilateral Balance Training on Bilateral Balance and Explosive Power Among Athletes With Chronic Ankle Instability Completed NCT04139044
30 Effect of Plyometric Training With Blood Flow Restriction on Muscle Strength and Function After Anterior Cruciate Ligament Reconstruction Completed NCT04284748
31 Optimizing Plyometric Training for Functional Recovery Post-ACL Reconstruction Completed NCT02148172
32 The Role of Quadriceps and Hamstring Muscles in Knee Stability During Single Leg Hop Landing in Patients With Anterior Cruciate Ligament Reconstruction Completed NCT04633161
33 Hop Botanical Dietary Supplements - Metabolism and Safety in Women Completed NCT02848430
34 Muscular and Functional Hop Test Performance in Femoroacetabular Impingement Syndrome Patients 6-30 Months Post Hip Arthroscopy - a Cross-sectional Study Completed NCT03669471
35 What's Hopping? Edible Cricket (Gryllodes Sigillatus) Consumption and Gut Microbiota in Healthy Adults, a Double-blind, Randomized Crossover Trial Completed NCT03383341
36 The Effect of Structured Training Program and Body Composition on Injury Occurrence in Hip-hop Dance Completed NCT03432130
37 A Randomised, Double-blind, Placebo-controlled Clinical Trial to Evaluate the Effect of Lifenol in Improving Bone Status in Postmenopausal Osteopenic Women Completed NCT04004013
38 Can Neuromuscular Training Alter Movement Patterns After Anterior Cruciate Ligament Injury? Completed NCT01773317
39 Active City of Liverpool Active Schools and SportsLinx Project: a Clustered Randomised Controlled Trial (The A-CLASS Project) Completed NCT02963805
40 Impact of Fatigue on Jumping Performance Completed NCT03133078
41 Individualised Exercise for Adults With an Acute Lateral Patellar Dislocation: a Feasibility Study Completed NCT03798483
42 Study of the Effect of Kinesio Taping and Proprioceptive Exercise on the Stability of Ankle in Amateur Soccer Players Completed NCT02863562
43 Effects of Physical Training on Bone and Muscle Quality, Muscle Strength, and Motor Coordination in Children With Neurofibromatosis Type 1 Completed NCT01058330
44 The Influence of High Impact Exercise on Musculoskeletal Health in Older Men Completed NCT02007460
45 Effectiveness of Home-Based Therapy for Symptomatic Convergence Insufficiency Completed NCT01515943
46 Injury Prevention in Children´s Football (FIFA 11+ Kids): a Cluster-randomized Controlled Trial Completed NCT02222025
47 The Effect of Movement Education on Jumping/Landing Quality in High School Athletes: A Randomized Controlled Trial Recruiting NCT04342000
48 Sensorimotor Function as Predictor for Graft Rupture After Anterior Cruciate Ligament Reconstruction: A Prospective Cohort Study (STOP Graft Rupture) Recruiting NCT04162613
49 Better and Safer Return to Sport After Anterior Cruciate Ligament Reconstruction Recruiting NCT04049292
50 Is Good Muscle Function a Protective Factor for Early Features of Knee Osteoarthritis After Anterior Cruciate Ligament Injury (SHIELD)? A Prospective Cohort Study Recruiting NCT03473873

Search NIH Clinical Center for Hypophosphatasia, Infantile

Genetic Tests for Hypophosphatasia, Infantile

Genetic tests related to Hypophosphatasia, Infantile:

# Genetic test Affiliating Genes
1 Infantile Hypophosphatasia 29 ALPL

Anatomical Context for Hypophosphatasia, Infantile

MalaCards organs/tissues related to Hypophosphatasia, Infantile:

40
Bone, Kidney, Liver, Skin

Publications for Hypophosphatasia, Infantile

Articles related to Hypophosphatasia, Infantile:

(show top 50) (show all 187)
# Title Authors PMID Year
1
Enzyme-replacement therapy in life-threatening hypophosphatasia. 57 61 6
22397652 2012
2
Autosomal recessive hypophosphatasia manifesting in utero with long bone deformity but showing spontaneous postnatal improvement. 57 6
18559907 2008
3
Specific ultrasonographic features of perinatal lethal hypophosphatasia. 6 57
18386808 2008
4
Glu274Lys/Gly309Arg mutation of the tissue-nonspecific alkaline phosphatase gene in neonatal hypophosphatasia associated with convulsions. 57 6
11999978 2002
5
A homoallelic Gly317-->Asp mutation in ALPL causes the perinatal (lethal) form of hypophosphatasia in Canadian mennonites. 6 57
8406453 1993
6
Different missense mutations at the tissue-nonspecific alkaline phosphatase gene locus in autosomal recessively inherited forms of mild and severe hypophosphatasia. 57 6
1409720 1992
7
A missense mutation in the human liver/bone/kidney alkaline phosphatase gene causing a lethal form of hypophosphatasia. 57 6
3174660 1988
8
Infantile hypophosphatasia due to a new compound heterozygous TNSALP mutation - functional evidence for a hydrophobic side-chain? 61 54 6
18523927 2009
9
Homozygosity for TNSALP mutation 1348c>T (Arg433Cys) causes infantile hypophosphatasia manifesting transient disease correction and variably lethal outcome in a kindred of black ancestry. 6 61 54
16769381 2006
10
Severe hypophosphatasia: characterization of fifteen novel mutations in the ALPL gene. 54 6 61
12815606 2003
11
[Infantile hypophosphatasia caused by a novel compound heterozygous mutation: a case report and pedigree analysis]. 6 61
28506345 2017
12
First Korean Case of Infantile Hypophosphatasia with Novel Mutation in ALPL and Literature Review. 6 61
27312557 2016
13
Infantile hypophosphatasia without bone deformities presenting with severe pyridoxine-resistant seizures. 6 61
24100244 2014
14
Infantile hypophosphatasia: transplantation therapy trial using bone fragments and cultured osteoblasts. 61 57
17519318 2007
15
Common mutations F310L and T1559del in the tissue-nonspecific alkaline phosphatase gene are related to distinct phenotypes in Japanese patients with hypophosphatasia. 6 61
15660230 2005
16
Denaturing gradient gel electrophoresis analysis of the tissue nonspecific alkaline phosphatase isoenzyme gene in hypophosphatasia. 6 61
11855933 2002
17
Prenatal diagnosis of infantile hypophosphatasia. 57 61
1680232 1991
18
Infantile hypophosphatasia: autosomal recessive transmission to two related sibships. 57 61
2333903 1990
19
Infantile hypophosphatasia: localization within chromosome region 1p36.1-34 and prenatal diagnosis using linked DNA markers. 61 57
1689104 1990
20
Hyperphosphatemia in infantile hypophosphatasia: implications for carrier diagnosis and screening. 57 61
2301398 1990
21
Analysis of liver/bone/kidney alkaline phosphatase mRNA, DNA, and enzymatic activity in cultured skin fibroblasts from 14 unrelated patients with severe hypophosphatasia. 57 61
2705456 1989
22
Infantile hypophosphatasia--linkage with the RH locus. 57 61
3128473 1987
23
Infantile hypophosphatasia: normalization of circulating bone alkaline phosphatase activity followed by skeletal remineralization. Evidence for an intact structural gene for tissue nonspecific alkaline phosphatase. 61 57
3944698 1986
24
Histologic and ultrastructural studies on the mineralization process in hypophosphatasia. 61 57
4073124 1985
25
Enzyme replacement therapy for infantile hypophosphatasia attempted by intravenous infusions of alkaline phosphatase-rich Paget plasma: results in three additional patients. 57 61
6502342 1984
26
Infantile hypophosphatasia: enzyme replacement therapy by intravenous infusion of alkaline phosphatase-rich plasma from patients with Paget bone disease. 57 61
7108657 1982
27
Infantile hypophosphatasia diagnosed at 4 months and surviving at 2 years. 61 57
7085329 1982
28
Genetic correction of induced pluripotent stem cells mediated by transcription activator-like effector nucleases targeting ALPL recovers enzyme activity and calcification in vitro. 57
31178256 2019
29
Genetic analysis of adults heterozygous for ALPL mutations. 6
29236161 2018
30
Hypophosphatasia. 6
28939177 2018
31
Clinical and Genetic Findings of Turkish Hypophosphatasia Cases. 6
28663156 2017
32
Mutational and biochemical findings in adults with persistent hypophosphatasemia. 6
28401263 2017
33
Efficacy of anti-sclerostin monoclonal antibody BPS804 in adult patients with hypophosphatasia. 6
28436937 2017
34
Molecular and clinical analysis of ALPL in a cohort of patients with suspicion of Hypophosphatasia. 6
28127875 2017
35
Clinical, biochemical and genetic spectrum of low alkaline phosphatase levels in adults. 6
26783040 2016
36
Identification of a molecular defect in a stillborn fetus with perinatal lethal hypophosphatasia using a disease-associated genome sequencing approach. 6
27179278 2016
37
Lethal hypophosphatasia successfully treated with enzyme replacement from day 1 after birth. 6
26459154 2016
38
Molecular diagnosis of hypophosphatasia and differential diagnosis by targeted Next Generation Sequencing. 6
26432670 2015
39
Reversible Deterioration in Hypophosphatasia Caused by Renal Failure With Bisphosphonate Treatment. 6
25736332 2015
40
Hypophosphatasia: validation and expansion of the clinical nosology for children from 25 years experience with 173 pediatric patients. 6
25731960 2015
41
Unexpected high intrafamilial phenotypic variability observed in hypophosphatasia. 6
24569605 2014
42
Clinical and genetic aspects of hypophosphatasia in Japanese patients. 6
24276437 2014
43
Benign prenatal hypophosphatasia: a treatable disease not to be missed. 6
24145968 2014
44
Compound heterozygosity of two functional null mutations in the ALPL gene associated with deleterious neurological outcome in an infant with hypophosphatasia. 6
23454488 2013
45
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. 6
23688511 2013
46
Outcome of perinatal hypophosphatasia in manitoba mennonites: a retrospective cohort analysis. 6
23580367 2013
47
Correction of hypophosphatasia-associated mineralization deficiencies in vitro by phosphate/pyrophosphate modulation in periodontal ligament cells. 6
22014174 2012
48
Functional evaluation of mutations in the tissue-nonspecific alkaline phosphatase gene. 6
23509830 2012
49
Rare coding variants in ALPL are associated with low serum alkaline phosphatase and low bone mineral density. 6
21956185 2012
50
Whole-body MRI in the childhood form of hypophosphatasia. 6
20383509 2011

Variations for Hypophosphatasia, Infantile

ClinVar genetic disease variations for Hypophosphatasia, Infantile:

6 (show top 50) (show all 122)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ALPL NM_000478.6(ALPL):c.212G>C (p.Arg71Pro) SNV Pathogenic 13665 rs121918003 GRCh37: 1:21887620-21887620
GRCh38: 1:21561127-21561127
2 ALPL NM_000478.6(ALPL):c.620A>C (p.Gln207Pro) SNV Pathogenic 13666 rs121918004 GRCh37: 1:21890681-21890681
GRCh38: 1:21564188-21564188
3 ALPL NM_000478.6(ALPL):c.1306T>C (p.Tyr436His) SNV Pathogenic 13668 rs121918006 GRCh37: 1:21903131-21903131
GRCh38: 1:21576638-21576638
4 ALPL NM_000478.6(ALPL):c.892G>A (p.Glu298Lys) SNV Pathogenic 13669 rs121918017 GRCh37: 1:21900187-21900187
GRCh38: 1:21573694-21573694
5 ALPL NM_000478.6(ALPL):c.1366G>A (p.Gly456Arg) SNV Pathogenic 13681 rs121918016 GRCh37: 1:21903932-21903932
GRCh38: 1:21577439-21577439
6 ALPL NM_000478.6(ALPL):c.814C>T (p.Arg272Cys) SNV Pathogenic 13684 rs121918020 GRCh37: 1:21896819-21896819
GRCh38: 1:21570326-21570326
7 ALPL NM_000478.6(ALPL):c.997+2T>G SNV Pathogenic 371591 rs1057517391 GRCh37: 1:21900294-21900294
GRCh38: 1:21573801-21573801
8 ALPL NM_000478.6(ALPL):c.18del (p.Val7fs) Deletion Pathogenic 518424 rs1558543066 GRCh37: 1:21880592-21880592
GRCh38: 1:21554099-21554099
9 ALPL NM_000478.6(ALPL):c.1098_1100CTC[1] (p.Ser368del) Microsatellite Pathogenic 545020 rs1558557341 GRCh37: 1:21902325-21902327
GRCh38: 1:21575832-21575834
10 ALPL NM_000478.6(ALPL):c.1471G>A (p.Gly491Arg) SNV Pathogenic 551446 rs1413274209 GRCh37: 1:21904037-21904037
GRCh38: 1:21577544-21577544
11 ALPL NM_000478.6(ALPL):c.1250A>G (p.Asn417Ser) SNV Pathogenic 13679 rs121918014 GRCh37: 1:21903075-21903075
GRCh38: 1:21576582-21576582
12 ALPL NM_000478.6(ALPL):c.400_401delinsCA (p.Thr134His) Indel Pathogenic 188877 rs786204530 GRCh37: 1:21889705-21889706
GRCh38: 1:21563212-21563213
13 ALPL NM_000478.6(ALPL):c.881A>C (p.Asp294Ala) SNV Pathogenic 13664 rs121918002 GRCh37: 1:21900176-21900176
GRCh38: 1:21573683-21573683
14 ALPL NM_000478.6(ALPL):c.98C>T (p.Ala33Val) SNV Pathogenic 13667 rs121918005 GRCh37: 1:21887155-21887155
GRCh38: 1:21560662-21560662
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.1133A>T (p.Asp378Val) SNV Pathogenic 13671 rs121918008 GRCh37: 1:21902361-21902361
GRCh38: 1:21575868-21575868
17 ALPL NM_000478.6(ALPL):c.1559del (p.Leu520fs) Deletion Pathogenic 13674 rs387906525 GRCh37: 1:21904125-21904125
GRCh38: 1:21577632-21577632
18 ALPL NM_000478.6(ALPL):c.1250A>G (p.Asn417Ser) SNV Pathogenic 13679 rs121918014 GRCh37: 1:21903075-21903075
GRCh38: 1:21576582-21576582
19 ALPL NM_000478.6(ALPL):c.648+1G>A SNV Pathogenic 13678 rs749544042 GRCh37: 1:21890710-21890710
GRCh38: 1:21564217-21564217
20 ALPL NM_000478.6(ALPL):c.407G>A (p.Arg136His) SNV Pathogenic 13675 rs121918011 GRCh37: 1:21889712-21889712
GRCh38: 1:21563219-21563219
21 ALPL NM_000478.6(ALPL):c.648+1G>A SNV Pathogenic 13678 rs749544042 GRCh37: 1:21890710-21890710
GRCh38: 1:21564217-21564217
22 ALPL NM_000478.6(ALPL):c.571G>A (p.Glu191Lys) SNV Pathogenic 13670 rs121918007 GRCh37: 1:21890632-21890632
GRCh38: 1:21564139-21564139
23 ALPL NM_000478.6(ALPL):c.1001G>A (p.Gly334Asp) SNV Pathogenic 13672 rs121918009 GRCh37: 1:21902229-21902229
GRCh38: 1:21575736-21575736
24 ALPL NM_000478.6(ALPL):c.1133A>T (p.Asp378Val) SNV Pathogenic 13671 rs121918008 GRCh37: 1:21902361-21902361
GRCh38: 1:21575868-21575868
25 ALPL NM_000478.6(ALPL):c.575T>C (p.Met192Thr) SNV Likely pathogenic 968006 GRCh37: 1:21890636-21890636
GRCh38: 1:21564143-21564143
26 ALPL NM_000478.6(ALPL):c.526G>A (p.Ala176Thr) SNV Likely pathogenic 13683 rs121918019 GRCh37: 1:21890587-21890587
GRCh38: 1:21564094-21564094
27 ALPL NM_000478.6(ALPL):c.346G>A (p.Ala116Thr) SNV Likely pathogenic 13677 rs121918013 GRCh37: 1:21889651-21889651
GRCh38: 1:21563158-21563158
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.791A>G (p.Lys264Arg) SNV Likely pathogenic 188750 rs786204442 GRCh37: 1:21894739-21894739
GRCh38: 1:21568246-21568246
30 ALPL NM_000478.6(ALPL):c.1001G>A (p.Gly334Asp) SNV Likely pathogenic 13672 rs121918009 GRCh37: 1:21902229-21902229
GRCh38: 1:21575736-21575736
31 ALPL NM_000478.6(ALPL):c.979T>C (p.Phe327Leu) SNV Likely pathogenic 13673 rs121918010 GRCh37: 1:21900274-21900274
GRCh38: 1:21573781-21573781
32 ALPL NM_000478.6(ALPL):c.1171dup (p.Arg391fs) Duplication Likely pathogenic 504232 rs751404811 GRCh37: 1:21902393-21902394
GRCh38: 1:21575900-21575901
33 ALPL NM_000478.6(ALPL):c.668G>A (p.Arg223Gln) SNV Likely pathogenic 381586 rs199665722 GRCh37: 1:21894616-21894616
GRCh38: 1:21568123-21568123
34 ALPL NM_000478.6(ALPL):c.535G>A (p.Ala179Thr) SNV Likely pathogenic 13662 rs121918000 GRCh37: 1:21890596-21890596
GRCh38: 1:21564103-21564103
35 ALPL NM_000478.6(ALPL):c.130C>T (p.Gln44Ter) SNV Likely pathogenic 370178 rs1057516293 GRCh37: 1:21887187-21887187
GRCh38: 1:21560694-21560694
36 ALPL NM_000478.6(ALPL):c.46_49del (p.Asn16fs) Deletion Likely pathogenic 370095 rs1057516230 GRCh37: 1:21880617-21880620
GRCh38: 1:21554124-21554127
37 ALPL NM_000478.6(ALPL):c.815G>A (p.Arg272His) SNV Likely pathogenic 495882 rs781272386 GRCh37: 1:21896820-21896820
GRCh38: 1:21570327-21570327
38 ALPL NM_000478.6(ALPL):c.400_401delinsCA (p.Thr134His) Indel Likely pathogenic 188877 rs786204530 GRCh37: 1:21889705-21889706
GRCh38: 1:21563212-21563213
39 ALPL NM_000478.6(ALPL):c.598G>A (p.Gly200Ser) SNV Likely pathogenic 635465 rs1570276921 GRCh37: 1:21890659-21890659
GRCh38: 1:21564166-21564166
40 ALPL NM_000478.6(ALPL):c.406C>T (p.Arg136Cys) SNV Likely pathogenic 964572 GRCh37: 1:21889711-21889711
GRCh38: 1:21563218-21563218
41 ALPL NM_000478.6(ALPL):c.617A>G (p.Tyr206Cys) SNV Likely pathogenic 978707 GRCh37: 1:21890678-21890678
GRCh38: 1:21564185-21564185
42 ALPL NM_000478.6(ALPL):c.1142A>G (p.His381Arg) SNV Likely pathogenic 623122 rs1558557428 GRCh37: 1:21902370-21902370
GRCh38: 1:21575877-21575877
43 ALPL NM_000478.6(ALPL):c.1171C>T (p.Arg391Cys) SNV Likely pathogenic 550442 rs371243939 GRCh37: 1:21902399-21902399
GRCh38: 1:21575906-21575906
44 ALPL NM_000478.6(ALPL):c.114del (p.Lys38fs) Deletion Likely pathogenic 371503 rs1057517321 GRCh37: 1:21887169-21887169
GRCh38: 1:21560676-21560676
45 ALPL NM_000478.6(ALPL):c.297+2T>A SNV Likely pathogenic 371477 rs1057517304 GRCh37: 1:21887707-21887707
GRCh38: 1:21561214-21561214
46 ALPL NM_000478.6(ALPL):c.1530_1549del (p.Leu512fs) Deletion Likely pathogenic 371522 rs1057517337 GRCh37: 1:21904091-21904110
GRCh38: 1:21577598-21577617
47 ALPL NM_000478.6(ALPL):c.129del (p.Gln44fs) Deletion Likely pathogenic 371247 rs763244290 GRCh37: 1:21887185-21887185
GRCh38: 1:21560692-21560692
48 ALPL NM_000478.6(ALPL):c.841del (p.His281fs) Deletion Likely pathogenic 370489 rs1057516526 GRCh37: 1:21896842-21896842
GRCh38: 1:21570349-21570349
49 ALPL NM_000478.6(ALPL):c.1144G>A (p.Val382Ile) SNV Likely pathogenic 371163 rs771540767 GRCh37: 1:21902372-21902372
GRCh38: 1:21575879-21575879
50 ALPL NM_000478.6(ALPL):c.1363G>A (p.Gly455Ser) SNV Likely pathogenic 371400 rs149889416 GRCh37: 1:21903929-21903929
GRCh38: 1:21577436-21577436

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

72
# Symbol AA change Variation ID SNP ID
1 ALPL p.Phe327Leu VAR_006165 rs121918010
2 ALPL p.Lys224Glu VAR_011084 rs122680099
3 ALPL p.Gly426Cys VAR_011089
4 ALPL p.Gly456Arg VAR_011091 rs121918016
5 ALPL p.Tyr28Cys VAR_013972
6 ALPL p.Val459Met VAR_013998 rs105415999
7 ALPL p.Glu298Lys VAR_025928 rs121918017

Expression for Hypophosphatasia, Infantile

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

Pathways for Hypophosphatasia, Infantile

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.69 ENPP1 ALPP ALPL
2
Show member pathways
11.55 PNPO ALPP ALPL
3
Show member pathways
10.78 ALPP ALPL
4 10.16 ALPP ALPL
5
Show member pathways
9.66 PNPO ALPP

GO Terms for Hypophosphatasia, Infantile

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

# Name GO ID Score Top Affiliating Genes
1 dephosphorylation GO:0016311 9.43 PHOSPHO1 ALPP ALPL
2 biomineral tissue development GO:0031214 9.32 ENPP1 ALPL
3 endochondral ossification GO:0001958 9.16 PHOSPHO1 ALPL
4 regulation of bone mineralization GO:0030500 8.96 PHOSPHO1 ENPP1
5 response to vitamin D GO:0033280 8.62 CD4 ALPL

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

# Name GO ID Score Top Affiliating Genes
1 phosphatase activity GO:0016791 9.33 PHOSPHO1 ALPP ALPL
2 pyrophosphatase activity GO:0016462 8.96 PHOSPHO1 ALPL
3 alkaline phosphatase activity GO:0004035 8.62 ALPP ALPL

Sources for Hypophosphatasia, Infantile

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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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