eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| pachydermoperiostosis | ||||
| Disease ID | 91 |
|---|---|
| Disease | pachydermoperiostosis |
| Definition | A condition chiefly characterized by thickening of the skin of the head and distal extremities, deep folds and furrows of the skin of the forehead, cheeks, and scalp, SEBORRHEA; HYPERHIDROSIS; periostosis of the long bones, digital clubbing, and spadelike enlargement of the hands and feet. It is more prevalent in the male, and is usually first evident during adolescence. Inheritance is primarily autosomal recessive, but an autosomal dominant form exists. |
| Synonym | autosomal recessive pachydermoperiostosis clubbed nail pachydermoperiostosis hypertrophic osteoarthropathy, idiopathic hypertrophic osteoarthropathy, primary hypertrophic osteoarthropathy, primary, autosomal recessive hypertrophic osteoarthropathy, primary, autosomal recessive, 1 idiopathic hypertrophic osteoarthropathy osteoarthropathy, idiopathic hypertrophic osteoarthropathy, primary hypertrophic osteoarthropathy, primary hypertrophic [disease/finding] pachydermoperiostosis of nail pachydermoperiostosis of nail (disorder) pachydermoperiostosis of nail [ambiguous] pachydermoperiostosis syndrome pachydermoperiostosis syndrome (disorder) pachydermoperiostosis, autosomal recessive pdp, autosomal recessive pho, autosomal recessive phoar1 primary hypertrophic osteoarthropathy recessive pachydermoperiostosis, autosomal touraine solente gole syndrome touraine-solente-gole syndrome touraine-solente-golé syndrome uehlinger syndrome |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C0029411 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:4) C0001815 | myelofibrosis | 2 C0017155 | hypertrophic gastropathy | 2 C0029456 | osteoporosis | 1 C0005684 | bladder cancer | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:1) |
| Locus | Symbol | Locus(Total Locus:2) |
| Disease ID | 91 |
|---|---|
| Disease | pachydermoperiostosis |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:59) HP:0004398 | Peptic ulcer HP:0000938 | Decreased bone mineral density HP:0001061 | Acne HP:0000767 | Funnel chest HP:0002239 | Gastrointestinal hemorrhage HP:0001051 | Seborrheic dermatitis HP:0000239 | Persistent wide fontanel HP:0002653 | Bone pain HP:0010720 | Abnormal hair pattern HP:0100021 | Cerebral palsy HP:0003103 | Abnormal cortical bone morphology HP:0000845 | Growth hormone excess HP:0005930 | Abnormality of epiphysis morphology HP:0001519 | Dolichostenomelia HP:0100760 | Clubbing of toes HP:0001582 | Loose redundant skin HP:0001376 | Limitation of joint mobility HP:0010541 | Cutis gyrata of scalp HP:0002797 | Osteolysis HP:0000508 | Ptosis HP:0008069 | Neoplasm of the skin HP:0002829 | Arthralgia HP:0002684 | Thickened calvarium HP:0100526 | Neoplasm of the lung HP:0002970 | Genu varum HP:0009771 | Acro-osteolysis HP:0001217 | Digital clubbing HP:0000972 | Thick palms and soles HP:0000982 | Palmoplantar keratoderma HP:0001903 | Anemia HP:0002024 | Malabsorption HP:0000975 | Increased sweating HP:0002754 | Osteomyelitis HP:0000771 | Gynecomastia HP:0000975 | Hyperhidrosis HP:0000218 | Increased palatal height HP:0001643 | Persistent ductus arteriosus HP:0001386 | Joint swelling HP:0002650 | Scoliosis HP:0000939 | Osteoporosis HP:0002240 | Hepatomegaly HP:0003040 | Arthropathy HP:0200055 | Small hand HP:0001376 | Decreased joint mobility HP:0000890 | Long collarbone HP:0000976 | Eczematoid dermatitis HP:0010829 | Impaired temperature sensation HP:0001744 | Splenomegaly HP:0011362 | Abnormal hair quantity HP:0001369 | Arthritis HP:0005561 | Abnormality of bone marrow cell morphology HP:0002645 | Extra bones within cranial sutures HP:0001072 | Thickened skin HP:0000280 | Coarse facial features HP:0010885 | Aseptic necrosis HP:0000508 | Drooping upper eyelid HP:0001231 | Abnormality of the fingernails HP:0002829 | Arthralgias HP:0000969 | Edema |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:6) HP:0011974 | Myelofibrosis | 2 HP:0001217 | Digital clubbing | 2 HP:0009725 | Bladder neoplasm | 1 HP:0005207 | Gastric hypertrophy | 1 HP:0001072 | Pachydermia | 1 HP:0000939 | Osteoporosis | 1 |
| Disease ID | 91 |
|---|---|
| Disease | pachydermoperiostosis |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:8) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:1) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:5) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs121434480 | NA | 3248 | HPGD | umls:C0029411 | CLINVAR | NA | 0.365167327 | NA | HPGD | 4 | 174508699 | C | G |
| rs548208942 | NA | 3248 | HPGD | umls:C0029411 | CLINVAR | NA | 0.365167327 | NA | HPGD;LOC102723627 | 4 | 174521985 | AG | - |
| rs577045722 | NA | 3248 | HPGD | umls:C0029411 | CLINVAR | NA | 0.365167327 | NA | HPGD;LOC102723627 | 4 | 174522451 | T | A,C |
| rs587776676 | NA | 3248 | HPGD | umls:C0029411 | CLINVAR | NA | 0.365167327 | NA | HPGD | 4 | 174518054 | GGTCTACAAC | TG |
| rs587777719 | NA | 3248 | HPGD | umls:C0029411 | CLINVAR | NA | 0.365167327 | NA | HPGD | 4 | 174517984 | AG | - |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:22) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001072 | Thickened skin | MP:0009932 | skin fibrosis | invasion of fibrous connective tissue into the skin, often resulting from inflammation or injury |
| HP:0000845 | Growth hormone excess | MP:0003497 | insensitivity to parathyroid hormone | no changes in calcium homeostasis in response to endogenous or exogenous hormone |
| HP:0001643 | Patent ductus arteriosus | MP:0011662 | persistent truncus arteriosus type ii | complete failure of the common arterial trunk opening out of both ventricles to divide into the aorta and pulmonary artery during development; type II is characterized by separate but proximate origins of the left and right pulmonary arterial branches fro |
| HP:0000972 | Palmoplantar hyperkeratosis | MP:0001242 | hyperkeratosis | thickening of the horny layer of the epidermis |
| HP:0002645 | Wormian bones | MP:0008915 | fused carpal bones | anomaly of the nine nodular bones of the joint between the forelimb bones and the front paws/hands resulting in some or all the bones being joined together |
| HP:0005930 | Abnormality of epiphysis morphology | 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:0001386 | Joint swelling | MP:0002936 | joint swelling | enlargement of the joints, usually due to an accumulation of fluid |
| HP:0009771 | Osteolytic defects of the phalanges of the hand | MP:0009886 | failure of palatal shelf elevation | the palatal shelves fail to move from a vertical position in the orofacial cavity to a horizontal apposition above the developing tongue |
| HP:0010885 | Aseptic necrosis | MP:0001654 | hepatic necrosis | morphological changes resulting from pathological death of liver tissue; usually due to irreversible damage |
| HP:0011362 | Abnormal hair quantity | MP:0008861 | abnormal hair shedding | anomaly in the hair cycle changes the timing of the hair loss that normally follows the anagen phase |
| HP:0003103 | Abnormal cortical bone morphology | MP:0013640 | increased bone stiffness | increase in material stiffness (N/mm) during elastic deformation |
| HP:0000218 | High palate | MP:0011615 | submucous cleft palate | a cleft of the palate with cardinal signs including a bifid uvula, a V-shaped notch at the back of the hard palate, and/or a translucent line in the midline of the soft palate and a short palate |
| HP:0001582 | Redundant skin | MP:0010678 | abnormal skin adnexa morphology | any structural anomaly of the tissue or structures associated with or embedded in the skin such as hair and hair follicles, sweat glands, sebaceous glands and claws or nails |
| HP:0100760 | Clubbing of toes | MP:0001841 | decreased level of surface class I molecules | reduced expression of major histocompatibility complex class I molecules at the cell surface |
| HP:0002239 | Gastrointestinal hemorrhage | MP:0012305 | umbilical cord hemorrhage | bleeding into or from the umbilical cord |
| HP:0100526 | Neoplasm of the lung | MP:0004500 | increased incidence of tumors by ionizing radiation induction | higher than normal frequency of tumor incidence induced by radiation in which the individual particle or photon carries sufficient energy to completely remove an electron from its orbit; common types of this radiation include gamma-rays and X-rays |
| HP:0008069 | Neoplasm of the skin | MP:0011205 | excessive folding of visceral yolk sac | the appearance of wrinkles or folds on the surface of the visceral yolk sac |
| HP:0010829 | Impaired temperature sensation | MP:0005535 | abnormal body temperature | deviation in the level of heat natural to a living being |
| HP:0001231 | Abnormality of the fingernails | MP:0012069 | abnormal horizontal basal cell of olfactory epithelium morphology | any structural anomaly of the flat or angular epithelial cell with condensed nuclei and darkly staining cytoplasm containing numerous intermediate filaments inserted into desmosomes contacting surrounding supporting cells, that lie in contact with the bas |
| HP:0000280 | Coarse facial features | MP:0008018 | increased facial tumor incidence | greater than the expected number of neoplasms on the face, usually in the form of a distinct mass, in a specific population in a given time period |
| HP:0001376 | Limitation of joint mobility | MP:0010732 | abnormal node of Ranvier morphology | any structural anomaly of the short unmyelinated segments of an axon between myelinated segments, where voltage gated channels accumulate and regenerate an action potential as it is conducted along the axon |
| HP:0005561 | Abnormality of bone marrow cell morphology | MP:0013283 | failure of ventral body wall closure | failure of the lateral body wall folds (a combination of mesoderm and ectoderm arising on each side of the embryo) to progress ventrally and meet in the midline and/or fuse to close the ventral body wall; normally, this closure is aided by growth of the h |
Mapped by homologous gene(Total Items:54) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0002650 | Scoliosis | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0010829 | Impaired temperature sensation | MP:0011967 | increased or absent threshold for auditory brainstem response | increase in the value at which one or more sound frequencies or broadband clicks first elicits a recordable response generated by electrical activity of neurons in the ascending auditory system, or complete lack of a recordable response at any frequency o |
| HP:0000845 | Growth hormone excess | MP:0014169 | decreased brown adipose tissue mass | decreased physical bulk or volume of brown adipose tissue |
| HP:0002754 | Osteomyelitis | MP:0020080 | increased bone mineralization | increase in the rate at which minerals are deposited into bone |
| HP:0002645 | Wormian bones | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0002653 | Bone pain | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0005930 | Abnormality of epiphysis morphology | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0200055 | Small hand | MP:0020157 | abnormal behavioral response to alcohol | any anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior |
| HP:0000508 | Ptosis | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0004398 | Peptic ulcer | MP:0013602 | abnormal Leydig cell differentiation | atypical formation of or inability to produce the interstitial cells that are found adjacent to the seminiferous tubules in the testicle and produce testosterone in the presence of luteinizing hormone; in most mammals, normal Leydig cell (LC) development |
| HP:0001369 | Arthritis | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0000982 | Palmoplantar keratoderma | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0003040 | Arthropathy | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0003103 | Abnormal cortical bone morphology | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001376 | Limitation of joint mobility | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0001072 | Thickened skin | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0002240 | Hepatomegaly | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0001061 | Acne | 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:0002024 | Malabsorption | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0001744 | Splenomegaly | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0002797 | Osteolysis | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002970 | Genu varum | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0011362 | Abnormal hair quantity | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001231 | Abnormality of the fingernails | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0009771 | Osteolytic defects of the phalanges of the hand | MP:0014179 | abnormal blood-retinal barrier function | anomaly in the function of the part of the blood-ocular barrier that consists of cells that are joined tightly together to prevent certain substances from entering the tissue of the retina; the BRB consists of non-fenestrated capillaries of the retinal ci |
| HP:0000939 | Osteoporosis | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000938 | Osteopenia | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0002239 | Gastrointestinal hemorrhage | MP:0020215 | impaired blood coagulation | impaired ability of the blood to clot |
| HP:0001643 | Patent ductus arteriosus | 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:0010885 | Aseptic necrosis | MP:0013501 | increased fibroblast apoptosis | increase in the timing or the number of fibroblast cells undergoing programmed cell death |
| HP:0001217 | Clubbing | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000975 | Hyperhidrosis | MP:0020187 | altered susceptibility to prion infection | altered likelihood that an organism will develop ill effects from the small proteinaceous infectious particles which are resistant to inactivation by procedures that modify nucleic acids and which contain an abnormal isoform of a cellular protein that is |
| HP:0000767 | Pectus excavatum | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0000969 | Edema | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0002829 | Arthralgia | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0001582 | Redundant skin | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0000972 | Palmoplantar hyperkeratosis | MP:0014175 | abnormal ciliary epithelium morphology | any structural anomaly of the double layer lining the inner surfaces of the ciliary processes and the pars plana (i.e. the posterior portion of the ciliary body, aka orbicularis ciliari); the outer layer is the pigmented epithelium, which is composed of l |
| HP:0000218 | High palate | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0000976 | Eczematoid dermatitis | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0005561 | Abnormality of bone marrow cell morphology | MP:0014071 | increased cardiac muscle glycogen level | greater than the normal concentration of a readily converted carbohydrate reserve in heart muscle |
| HP:0100760 | Clubbing of toes | MP:0012009 | early parturition | the process of labor and delivery in female animals occurs earlier in gestation than expected |
| HP:0100021 | Cerebral palsy | MP:0013026 | decreased Ly6C low monocyte number | decrease in the number of monocytes that express low levels of Ly6C and low MHC class II that represent a subset of patrolling monocytes |
| HP:0000280 | Coarse facial features | MP:0020169 | increased thyroid gland weight | higher than average weight of the thyroid gland |
| HP:0001051 | Seborrheic dermatitis | MP:0013174 | pharynx stenosis | abnormal narrowing or constriction of the passage between the mouth and the posterior nares and the larynx and esophagus |
| HP:0010541 | Cutis gyrata of scalp | MP:0012009 | early parturition | the process of labor and delivery in female animals occurs earlier in gestation than expected |
| HP:0008069 | Neoplasm of the skin | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0001386 | Joint swelling | MP:0013743 | ciliary body hypoplasia | underdevelopment or reduced size, usually due to a reduced number of cells, of the thickened portion of the vascular tunic which lies between the choroid and the iris |
| HP:0000890 | Long clavicles | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002684 | Thickened calvaria | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0100526 | Neoplasm of the lung | MP:0014179 | abnormal blood-retinal barrier function | anomaly in the function of the part of the blood-ocular barrier that consists of cells that are joined tightly together to prevent certain substances from entering the tissue of the retina; the BRB consists of non-fenestrated capillaries of the retinal ci |
| HP:0000239 | Large fontanelles | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000771 | Gynecomastia | MP:0014198 | absent pituitary infundibular stalk | absence of the apical portion of the tubular structure extending from the hypothalamus to the posterior lobe of the pituitary gland |
| HP:0001519 | Disproportionate tall stature | MP:0014179 | abnormal blood-retinal barrier function | anomaly in the function of the part of the blood-ocular barrier that consists of cells that are joined tightly together to prevent certain substances from entering the tissue of the retina; the BRB consists of non-fenestrated capillaries of the retinal ci |
| Disease ID | 91 |
|---|---|
| Disease | pachydermoperiostosis |
| Case | (Waiting for update.) |