eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| hypophosphatasia | ||||
| Disease ID | 226 |
|---|---|
| Disease | hypophosphatasia |
| Definition | A genetic metabolic disorder resulting from serum and bone alkaline phosphatase deficiency leading to hypercalcemia, ethanolamine phosphatemia, and ethanolamine phosphaturia. Clinical manifestations include severe skeletal defects resembling vitamin D-resistant rickets, failure of the calvarium to calcify, dyspnea, cyanosis, vomiting, constipation, renal calcinosis, failure to thrive, disorders of movement, beading of the costochondral junction, and rachitic bone changes. (From Dorland, 27th ed) |
| Synonym | alkaline phosphatase deficiency deficiency of alkaline phosphatase deficiency of alkaline phosphatase (disorder) deficiency of alkaline phosphatase (disorder) [ambiguous] hypophosphatasia (disorder) hypophosphatasia (disorder) [ambiguous] hypophosphatasia [disease/finding] hypophosphatasia, nos hypophosphatasias |
| Orphanet | |
| DOID | |
| UMLS | C0020630 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:6) C0029442 | osteomalacia | 1 C0031037 | periarthritis | 1 C0035579 | rickets | 1 C0022661 | chronic renal failure | 1 C0020437 | hypercalcemia | 1 C0035078 | renal failure | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:41) 501 | ALDH7A1 | 2.089 | DISEASES 249 | ALPL | 8.592 | DISEASES 250 | ALPP | 3.797 | DISEASES 265 | AMELX | 2.665 | DISEASES 415 | ARSE | 1.326 | DISEASES 9048 | ARTN | 1.706 | DISEASES 632 | BGLAP | 2.389 | DISEASES 778 | CACNA1F | 1.415 | DISEASES 796 | CALCA | 1.8 | DISEASES 1747 | DLX3 | 3.548 | DISEASES 1825 | DSC3 | 2.253 | DISEASES 128178 | EDARADD | 2.231 | DISEASES 10117 | ENAM | 2.515 | DISEASES 5167 | ENPP1 | 4.443 | DISEASES 5169 | ENPP3 | 1.004 | DISEASES 2248 | FGF3 | 1.423 | DISEASES 57165 | GJC2 | 1.76 | DISEASES 2801 | GOLGA2 | 2.128 | DISEASES 3704 | ITPA | 1.274 | DISEASES 10656 | KHDRBS3 | 4.148 | DISEASES 56955 | MEPE | 2.459 | DISEASES 64386 | MMP25 | 1.952 | DISEASES 4487 | MSX1 | 2.136 | DISEASES 4604 | MYBPC1 | 2.695 | DISEASES 5079 | PAX5 | 1.509 | DISEASES 5083 | PAX9 | 1.715 | DISEASES 5091 | PC | 1.373 | DISEASES 5830 | PEX5 | 1.074 | DISEASES 5251 | PHEX | 2.172 | DISEASES 162466 | PHOSPHO1 | 3.317 | DISEASES 5429 | POLH | 1.767 | DISEASES 5745 | PTH1R | 1.897 | DISEASES 860 | RUNX2 | 2.331 | DISEASES 6439 | SFTPB | 1.176 | DISEASES 4090 | SMAD5 | 1.604 | DISEASES 6696 | SPP1 | 3.146 | DISEASES 6708 | SPTA1 | 7.444 | DISEASES 6736 | SRY | 1.181 | DISEASES 6888 | TALDO1 | 1.687 | DISEASES 51592 | TRIM33 | 3.014 | DISEASES 7286 | TUFT1 | 2.578 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 226 |
|---|---|
| Disease | hypophosphatasia |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:20) HP:0001250 | Seizures HP:0003072 | Hypercalcemia HP:0001363 | Craniosynostosis HP:0006487 | Bowing of the long bones HP:0001024 | Skin dimple over apex of long bone angulation HP:0002093 | Respiratory insufficiency HP:0000239 | Large fontanelles HP:0002097 | Emphysema HP:0004322 | Short stature HP:0001903 | Anemia HP:0002757 | Recurrent fractures HP:0001531 | Failure to thrive in infancy HP:0000737 | Irritability HP:0000164 | Abnormality of the teeth HP:0010781 | Skin dimples HP:0000774 | Narrow chest HP:0001252 | Muscular hypotonia HP:0000772 | Abnormality of the ribs HP:0000944 | Abnormality of the metaphyses HP:0008872 | Feeding difficulties in infancy |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:6) HP:0001250 | Seizures | 2 HP:0002749 | Osteomalacia | 1 HP:0001252 | Hypotonia | 1 HP:0002748 | Rickets | 1 HP:0003072 | Hypercalcemia | 1 HP:0000924 | Abnormality of the skeletal system | 1 |
| Disease ID | 226 |
|---|---|
| Disease | hypophosphatasia |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:10) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:1) |
Manually Genotype(Total Manually Genotypes:1) | |||
|---|---|---|---|
| Gene | Mutation | DOI | Article Title |
| ALPL | NM_000478.4: c.455G>A, p.(Arg152His) | doi:10.1038/gim.2016.153 | A comprehensive strategy for exome-based preconception carrier screening |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:1) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs387906525 | 21179104 | 249 | ALPL | umls:C0020630 | BeFree | Prevalence of c.1559delT in ALPL, a common mutation resulting in the perinatal (lethal) form of hypophosphatasia in Japanese and effects of the mutation on heterozygous carriers. | 0.037919493 | 2011 | ALPL | 1 | 21577632 | T | - |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:10) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0008872 | Feeding difficulties in infancy | MP:0011075 | abnormal macrophage activation involved in immune response | anomaly in the process in which a change in response and behavior of a macrophage results from exposure to a cytokine, chemokine, cellular ligand, or soluble factor, leading to the initiation or perpetuation of an immune response |
| HP:0006487 | Bowing of the long bones | MP:0013621 | decreased internal diameter of femur | reduced cross-sectional distance that extends from one lateral edge of the femur long bone marrow cavity, through its center and to the opposite lateral edge of the bone marrow cavity through the mid point of the femur |
| HP:0001531 | Failure to thrive in infancy | MP:0020157 | abnormal behavioral response to alcohol | any anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior |
| HP:0000772 | Abnormality of the ribs | MP:0020010 | decreased bone mineral density of femur | reduction in the quatitative measurment value of mineral content of bone in the long bone of the thigh |
| HP:0000944 | Abnormality of the metaphyses | MP:0013621 | decreased internal diameter of femur | reduced cross-sectional distance that extends from one lateral edge of the femur long bone marrow cavity, through its center and to the opposite lateral edge of the bone marrow cavity through the mid point of the femur |
| HP:0000164 | Abnormality of the teeth | MP:0010382 | abnormal dosage compensation, by inactivation of X chromosome | anomaly in the process of compensating for the two-fold variation in X-chromosome:autosome ratios between sexes by a global inactivation of all, or most of, the genes on one of the X-chromosomes in the XX sex |
| HP:0000774 | Narrow chest | MP:0004134 | abnormal chest morphology | any structural anomaly of the part of the body between the neck and the abdomen |
| HP:0001024 | Skin dimple over apex of long bone angulation | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001252 | Muscular hypotonia | MP:0004144 | hypotonia | decreased muscle tension resulting in limpness of the muscles in the resting state, not to be confused with weakness |
| HP:0002757 | Recurrent fractures | MP:0004675 | rib fractures | a crack or break in the bones forming the bony wall of the chest |
Mapped by homologous gene(Total Items:20) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001252 | Muscular hypotonia | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0002097 | Emphysema | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0000772 | Abnormality of the ribs | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002093 | Respiratory insufficiency | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000737 | Irritability | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0001363 | Craniosynostosis | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0010781 | Skin dimples | MP:0011100 | preweaning lethality, complete penetrance | death of all organisms of a given genotype in a population between fertilization and weaning age (Mus: approximately 3-4 weeks of age) |
| HP:0003072 | Hypercalcemia | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001531 | Failure to thrive in infancy | MP:0020157 | abnormal behavioral response to alcohol | any anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior |
| HP:0000164 | Abnormality of the teeth | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000774 | Narrow chest | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0001250 | Seizures | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0000944 | Abnormality of the metaphyses | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001024 | Skin dimple over apex of long bone angulation | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0008872 | Feeding difficulties in infancy | MP:0020214 | susceptible to malignant hyperthermia | increased susceptibility to hyperthermia triggered by exposure to certain drugs used for general anesthesia, specifically the volatile anesthetic agents and the neuromuscular blocking agent, succinylcholine |
| HP:0004322 | Short stature | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0006487 | Bowing of the long bones | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000239 | Large fontanelles | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0001903 | Anemia | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0002757 | Recurrent fractures | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| Disease ID | 226 |
|---|---|
| Disease | hypophosphatasia |
| Case | (Waiting for update.) |