eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| pachyonychia congenita | ||||
| Disease ID | 326 |
|---|---|
| Disease | pachyonychia congenita |
| Definition | A group of inherited ectodermal dysplasias whose most prominent clinical feature is hypertrophic nail dystrophy resulting in PACHYONYCHIA. Several specific subtypes of pachyonychia congenita have been associated with mutations in genes that encode KERATINS. |
| Synonym | congenita syndrome, pachyonychia congenita syndromes, pachyonychia congenita, pachyonychia congenital pachyonychia congenital pachyonychias pachyonychia congenita [disease/finding] pachyonychia congenita syndrome pachyonychia congenita syndrome (disorder) pachyonychia congenita syndromes pachyonychia, congenital pachyonychias, congenital syndrome, pachyonychia congenita syndromes, pachyonychia congenita |
| Orphanet | |
| DOID | |
| UMLS | C0265334 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:2) |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:4) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:12) 488 | ATP2A2 | 1.21 | DISEASES 1747 | DLX3 | 2.444 | DISEASES 2312 | FLG | 2.736 | DISEASES 8323 | FZD6 | 2.473 | DISEASES 3853 | KRT6A | 8.152 | DISEASES 3892 | KRT86 | 2.54 | DISEASES 51360 | MBTPS2 | 2.13 | DISEASES 26151 | NAT9 | 1.534 | DISEASES 5125 | PCSK5 | 2.866 | DISEASES 5339 | PLEC | 1.469 | DISEASES 5104 | SERPINA5 | 1.821 | DISEASES 162514 | TRPV3 | 2.31 | DISEASES |
| Locus | Symbol | Locus(Total Locus:4) |
| Disease ID | 326 |
|---|---|
| Disease | pachyonychia congenita |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:21) HP:0001597 | Abnormality of the nail HP:0000670 | Carious teeth HP:0000975 | Hyperhidrosis HP:0008404 | Nail dystrophy HP:0001596 | Alopecia HP:0001805 | Thick nail HP:0000518 | Cataract HP:0002093 | Respiratory insufficiency HP:0100543 | Cognitive impairment HP:0001601 | Laryngomalacia HP:0001798 | Anonychia HP:0002745 | Oral leukoplakia HP:0001131 | Corneal dystrophy HP:0000164 | Abnormality of the teeth HP:0002240 | Hepatomegaly HP:0100643 | Abnormality of nail color HP:0001231 | Abnormality of the fingernails HP:0001595 | Abnormality of the hair HP:0008066 | Abnormal blistering of the skin HP:0000982 | Palmoplantar keratoderma HP:0008064 | Ichthyosis |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:7) HP:0000982 | Palmoplantar keratoderma | 2 HP:0001131 | Corneal dystrophy | 1 HP:0002224 | Woolly hair | 1 HP:0001596 | Hair loss | 1 HP:0008404 | Dystrophic nails | 1 HP:0012035 | Steatocystoma multiplex | 1 HP:0005945 | Laryngeal obstruction | 1 |
| Disease ID | 326 |
|---|---|
| Disease | pachyonychia congenita |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:3) |
| 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:2) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs59685571 | 21150925 | 3853 | KRT6A | umls:C0265334 | BeFree | Using keratinocytes and fibroblasts isolated from unaffected skin biopsies of two PC patients carrying the p.Asn171Lys mutation of the keratin 6a gene (KRT6A), we were able to regenerate PC-derived human skin that appeared phenotypically normal, but developed sustained PC features after the use of an acute hyperproliferative stimulus (i.e., tape stripping). | 0.24706742 | 2011 | KRT6A | 12 | 52492676 | G | T |
| rs59685571 | 17914454 | 3853 | KRT6A | umls:C0265334 | BeFree | Targeting the single-nucleotide keratin 6a (K6a) N171K mutation responsible for the rare monogenic skin disorder pachyonychia congenita (PC), we demonstrate that small interfering RNAs (siRNAs) can potently and selectively block expression of mutant K6a. | 0.24706742 | 2008 | KRT6A | 12 | 52492676 | G | T |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:9) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000670 | Carious teeth | MP:0004033 | supernumerary teeth | occurrence of more than the usual number of teeth |
| HP:0008066 | Abnormal blistering of the skin | MP:0009536 | abnormal interstitial cell of Cajal morphology | any structural anomaly in the type of cell found in the gastrointestinal tract and serving as a pacemaker that triggers gut contraction; ICCs mediate inputs from the enteric nervous system to smooth muscle cells and are thought to be the cells from which |
| HP:0001805 | Thick nail | MP:0000579 | abnormal nail morphology | any structural anomaly of any of the horny plates covering the dorsal surface of the distal end of each terminal phalanx of the digits |
| 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:0100643 | Abnormality of nail color | MP:0012111 | failure of morula compaction | inability to initiate or maintain the first cell differentiation event in mammalian development, occurring at the late eight-cell stage in the mouse, whereby cells on the outer part of the morula become flattened and bound tightly together with the format |
| HP:0002745 | Oral leukoplakia | MP:0003751 | oral leukoplakia | white patchy lesions of the mucous membranes of the oral cavity; often considered a precancerous condition |
| 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:0001595 | Abnormality of the hair | MP:0008261 | arrest of male meiosis | cessation of the progression of the process of nuclear division that results in sperm with one half the normal chromosome number of the original cell |
| HP:0001597 | Abnormality of the nail | MP:0011205 | excessive folding of visceral yolk sac | the appearance of wrinkles or folds on the surface of the visceral yolk sac |
Mapped by homologous gene(Total Items:21) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0008404 | Nail dystrophy | 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:0002093 | Respiratory insufficiency | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0100543 | Cognitive impairment | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0001597 | Abnormality of the nail | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001805 | Thick nail | MP:0013745 | abnormal eyelid margin morphology | any structural anomaly of the confluence of the mucosal surface of the conjunctiva, the edge of the orbicularis, and the cutaneous epithelium |
| HP:0001601 | Laryngomalacia | MP:0014152 | absent exorbital lacrimal gland | absence of the large extra-orbital lacrimal gland that, in mice, is normally located subcutaneously at the anteroventral base of the ear adjacent to the parotid gland |
| HP:0008064 | Ichthyosis | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001595 | Abnormality of the hair | MP:0014127 | increased thymoma incidence | greater than the expected number of a malignant neoplasm originating from the epithelial cells of the thymus, occurring in a specific population in a given time period; thymoma is an uncommon tumor linked with myasthenia gravis and other autoimmune diseas |
| HP:0000518 | Cataract | 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: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: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:0001798 | Anonychia | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001131 | Corneal dystrophy | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0100643 | Abnormality of nail color | MP:0013378 | increased sebocyte number | greater than expected number of the highly specialized, sebum-producing epithelial cells of the sebaceous glands that release their content by rupture of the cell membrane and cellular degradation |
| HP:0000982 | Palmoplantar keratoderma | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0008066 | Abnormal blistering of the skin | MP:0020039 | increased bone ossification | increase in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance |
| HP:0002240 | Hepatomegaly | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0000670 | Carious teeth | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0002745 | Oral leukoplakia | MP:0013501 | increased fibroblast apoptosis | increase in the timing or the number of fibroblast cells undergoing programmed cell death |
| HP:0001596 | Alopecia | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| Disease ID | 326 |
|---|---|
| Disease | pachyonychia congenita |
| Case | (Waiting for update.) |