eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| keratoderma hereditarium mutilans | ||||
| Disease ID | 1620 |
|---|---|
| Disease | keratoderma hereditarium mutilans |
| Synonym | congenital deafness with keratopachydermia and constrictions of fingers and toes deafness, congenital, with keratopachydermia and constrictions of fingers and toes mutilating keratoderma mutilating keratoderma (disorder) palmoplantar keratoderma mutilans palmoplantar keratoderma mutilans vohwinkel ppk mutilans vohwinkel vohwinkel syndrome vohwinkel's mutilating keratoderma vownkl |
| Orphanet | |
| OMIM | |
| UMLS | C0265964 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:2) |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | Symbol | Locus(Total Locus:1) GJB2 | 13q12.11 |
| Disease ID | 1620 |
|---|---|
| Disease | keratoderma hereditarium mutilans |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:17) HP:0000044 | Hypogonadotrophic hypogonadism HP:0001597 | Abnormality of the nail HP:0000962 | Hyperkeratosis HP:0000175 | Cleft palate HP:0100716 | Self-injurious behavior HP:0007465 | Honeycomb palmoplantar keratoderma HP:0001596 | Alopecia HP:0002143 | Abnormality of the spinal cord HP:0100543 | Cognitive impairment HP:0000365 | Hearing impairment HP:0200034 | Papule HP:0009775 | Amniotic constriction ring HP:0000407 | Sensorineural hearing impairment HP:0007460 | Autoamputation of digits HP:0002797 | Osteolysis HP:0008064 | Ichthyosis HP:0008388 | Abnormality of the toenails |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:4) HP:0000365 | Hearing impairment | 2 HP:0008064 | Ichthyosis | 2 HP:0001006 | Marked hypotrichosis | 1 HP:0001249 | Mental retardation | 1 |
| Disease ID | 1620 |
|---|---|
| Disease | keratoderma hereditarium mutilans |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:3) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs104894403 | 20031451 | 2706 | GJB2 | umls:C0265964 | BeFree | Vohwinkel Syndrome secondary to missense mutation D66H in GJB2 gene (connexin 26) can include epileptic manifestations. | 0.482171535 | 2010 | GJB2 | 13 | 20189386 | C | G |
| rs104894403 | NA | 2706 | GJB2 | umls:C0265964 | CLINVAR | NA | 0.482171535 | NA | GJB2 | 13 | 20189386 | C | G |
| rs121912968 | 17993581 | 2706 | GJB2 | umls:C0265964 | BeFree | Here, we report on a family with a novel GJB2 mutation (p.His73Arg) causing a syndrome of focal palmoplantar keratoderma with severe progressive sensorineural hearing impairment, a phenotype reminiscent of Vohwinkel syndrome. | 0.482171535 | 2008 | GJB2 | 13 | 20189364 | T | C |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:5) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0008388 | Abnormality of the toenails | 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: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 |
| HP:0000175 | Cleft palate | MP:0013550 | abnormal secondary palate morphology | |
| HP:0100716 | Self-injurious behavior | MP:0009848 | increased horizontal stereotypic behavior | increase in the frequency of repetitive rearings (greater than one per second) |
| HP:0000407 | Sensorineural hearing impairment | MP:0006330 | syndromic hearing impairment | hearing impairment that is usually associated with malformations of the external ear and other inherited signs and symptoms |
Mapped by homologous gene(Total Items:16) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| 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:0200034 | Papule | 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:0000407 | Sensorineural hearing impairment | 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:0001597 | Abnormality of the nail | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002797 | Osteolysis | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0008064 | Ichthyosis | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0007465 | Honeycomb palmoplantar keratoderma | MP:0011521 | decreased placental labyrinth size | reduction in the size of the structure where embryonic blood vessels are surrounded by trophoblast cells and maternal blood |
| HP:0000044 | Hypogonadotrophic hypogonadism | 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:0000175 | Cleft palate | 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:0000365 | Hearing impairment | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000962 | Hyperkeratosis | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0009775 | Amniotic constriction ring | MP:0012055 | abnormal phrenic nerve innervation pattern to diaphragm | any changes in the placement, morphology or number of the portion of phrenic nerve fibers providing motor supply to the diaphragm |
| HP:0007460 | Autoamputation of digits | MP:0011521 | decreased placental labyrinth size | reduction in the size of the structure where embryonic blood vessels are surrounded by trophoblast cells and maternal blood |
| HP:0008388 | Abnormality of the toenails | 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:0001596 | Alopecia | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0100716 | Self-injurious behavior | MP:0020157 | abnormal behavioral response to alcohol | any anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior |
| Disease ID | 1620 |
|---|---|
| Disease | keratoderma hereditarium mutilans |
| Case | (Waiting for update.) |