eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| kid syndrome | ||||
| Disease ID | 978 |
|---|---|
| Disease | kid syndrome |
| Synonym | keratitis, ichthyosis, and deafness (kid) syndrome keratitis-ichthyosis-deafness syndrome, autosomal dominant keratosis-ichthyosis-deafness syndrome kid syndrome, autosomal dominant kids syndrome senter syndrome senter syndrome (disorder) syndrome kid |
| Orphanet | |
| OMIM | |
| UMLS | C0265336 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:3) |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:2) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | Symbol | Locus(Total Locus:2) |
| Disease ID | 978 |
|---|---|
| Disease | kid syndrome |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:46) HP:0000157 | Abnormality of the tongue HP:0000028 | Cryptorchidism HP:0000670 | Carious teeth HP:0001025 | Urticaria HP:0001810 | Dystrophic toenail HP:0012733 | Macule HP:0004322 | Short stature HP:0002213 | Fine hair HP:0000365 | Hearing impairment HP:0001321 | Cerebellar hypoplasia HP:0002251 | Aganglionic megacolon HP:0002797 | Osteolysis HP:0010783 | Erythema HP:0006739 | Squamous cell carcinoma of the skin HP:0002745 | Oral leukoplakia HP:0005406 | Recurrent bacterial skin infections HP:0200020 | Corneal erosion HP:0000164 | Abnormality of the teeth HP:0000684 | Delayed eruption of teeth HP:0100840 | Aplasia/Hypoplasia of the eyebrow HP:0011344 | Severe global developmental delay HP:0001315 | Reduced tendon reflexes HP:0000407 | Sensorineural hearing impairment HP:0004374 | Hemiplegia/hemiparesis HP:0200042 | Skin ulcer HP:0000982 | Palmoplantar keratoderma HP:0002664 | Neoplasm HP:0005595 | Generalized hyperkeratosis HP:0000221 | Furrowed tongue HP:0000966 | Hypohidrosis HP:0008070 | Sparse hair HP:0000491 | Keratitis HP:0000529 | Progressive visual loss HP:0001249 | Intellectual disability HP:0008391 | Dystrophic fingernails HP:0001800 | Hypoplastic toenails HP:0001596 | Alopecia HP:0000505 | Visual impairment HP:0001369 | Arthritis HP:0002750 | Delayed skeletal maturation HP:0000613 | Photophobia HP:0000499 | Abnormality of the eyelashes HP:0001072 | Thickened skin HP:0011496 | Corneal neovascularization HP:0001804 | Hypoplastic fingernail HP:0008064 | Ichthyosis |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:3) |
| Disease ID | 978 |
|---|---|
| Disease | kid syndrome |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:9) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:3) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:8) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs104894408 | 22011219 | 2706 | GJB2 | umls:C0265336 | BeFree | This article describes a patient with the G12R mutation and KID syndrome with interesting additional features, which include a porokeratotic eccrine ostial and dermal duct nevus, follicular occlusion triad, and unusual persistent oral mucosal papules. | 0.328414698 | 2012 | GJB2 | 13 | 20189548 | C | G,A |
| rs28929485 | 11912510 | 2706 | GJB2 | umls:C0265336 | UNIPROT | Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichthyosis-deafness syndrome. | 0.328414698 | 2002 | GJB2 | 13 | 20189532 | G | C,A |
| rs28931594 | 23797419 | 2706 | GJB2 | umls:C0265336 | BeFree | Collectively, these data provide insight into Cx26 structure-function and the underlying bases for the phenotypes associated with KID syndrome patients carrying the D50N mutation. | 0.328414698 | 2014 | GJB2 | 13 | 20189434 | C | T,A |
| rs28931594 | 11912510 | 2706 | GJB2 | umls:C0265336 | UNIPROT | Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichthyosis-deafness syndrome. | 0.328414698 | 2002 | GJB2 | 13 | 20189434 | C | T,A |
| rs28931594 | 19793313 | 2706 | GJB2 | umls:C0265336 | BeFree | Dandy-Walker malformation in patients with KID syndrome associated with a heterozygote mutation (p.Asp50Asn) in the GJB2 gene encoding connexin 26. | 0.328414698 | 2009 | GJB2 | 13 | 20189434 | C | T,A |
| rs28931594 | 23924173 | 2706 | GJB2 | umls:C0265336 | BeFree | Heterozygous p.Asp50Asn mutation in the GJB2 gene in two Cameroonian patients with keratitis-ichthyosis-deafness (KID) syndrome. | 0.328414698 | 2013 | GJB2 | 13 | 20189434 | C | T,A |
| rs72561723 | 23756814 | 2706 | GJB2 | umls:C0265336 | BeFree | Substitution of glycine at the position 45 of Cx26 to glutamic acid (p.G45E mutation) causes the Keratitis-ichthyosis-deafness (KID) syndrome. | 0.328414698 | 2013 | GJB2 | 13 | 20189448 | C | T |
| rs72561723 | 18024254 | 2706 | GJB2 | umls:C0265336 | BeFree | A familial case of Keratitis-Ichthyosis-Deafness (KID) syndrome with the GJB2 mutation G45E. | 0.328414698 | 2008 | GJB2 | 13 | 20189448 | C | T |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:19) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000529 | Progressive visual loss | MP:0010749 | absent visual evoked potential | absence of a characteristic electroencephalographic pattern recorded from the occipital area generated in response to retinal stimulation such as flashing lights or inverting a contrasting image; absence may indicate blindness |
| HP:0001072 | Thickened skin | MP:0009932 | skin fibrosis | invasion of fibrous connective tissue into the skin, often resulting from inflammation or injury |
| HP:0006739 | Squamous cell carcinoma of the skin | MP:0009657 | failure of chorioallantoic fusion | failure to initiate and/or complete the formation of a highly vascularized extra-embryonic fetal membrane by fusion of the chorion and allantois |
| HP:0000670 | Carious teeth | MP:0004033 | supernumerary teeth | occurrence of more than the usual number of teeth |
| HP:0100840 | Aplasia/Hypoplasia of the eyebrow | MP:0012167 | abnormal epigenetic regulation of gene expression | any anomaly in the process that modulates the frequency, rate or extent of gene expression, in which the process is mitotically or meiotically heritable, or is stably self-propagated in the cytoplasm of a resting cell, and does not entail a change in DNA |
| HP:0001321 | Cerebellar hypoplasia | MP:0010422 | heart right ventricle hypoplasia | underdevelopment or reduced size of the heart right ventricle, often due to a reduced number of cells |
| HP:0008070 | Sparse hair | MP:0010202 | focal dorsal hair loss | focal hair loss on the dorsal area of a rodent resulting in dorsal skin visible in a patch where hair loss occurs |
| 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 |
| HP:0002213 | Fine hair | MP:0010685 | abnormal hair follicle inner root sheath morphology | any structural anomaly of the multilayered tube composed of terminally differentiated hair follicle keratinocytes that is surrounded by the outer root sheath; the layers of the inner root sheath include the companion layer, Henle's layer, Huxley's layer a |
| HP:0000221 | Furrowed tongue | MP:0000764 | abnormal tongue epithelium morphology | any structural anomaly of the epithelial layer of the tongue |
| 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:0011344 | Severe global developmental delay | MP:0002084 | abnormal developmental patterning | abnormal systematic arrangement of the developing body along an axis |
| HP:0002251 | Aganglionic megacolon | MP:0002926 | aganglionic megacolon | extreme dilation of the colon due to defects in innervation from the ganglia, or absence of the ganglia of the myenteric plexus |
| HP:0005406 | Recurrent bacterial skin infections | MP:0002412 | increased susceptibility to bacterial infection | greater likelihood that an organism will develop ill effects from a bacterial infection or from components of or toxins produced by bacteria |
| HP:0000157 | Abnormality of the tongue | 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:0000499 | Abnormality of the eyelashes | 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:0000684 | Delayed eruption of teeth | 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:0002750 | Delayed skeletal maturation | MP:0003379 | absent sexual maturation | failure to initiate pubertal changes that result in achievement of full sexual capacity |
Mapped by homologous gene(Total Items:45) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0011344 | Severe global developmental delay | MP:0020157 | abnormal behavioral response to alcohol | any anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior |
| HP:0002664 | Neoplasm | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| 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:0008391 | Dystrophic fingernails | MP:0013781 | abnormal mammary gland luminal epithelium morphology | any structural anomaly of the inner cell layer of the mammary epithelium bilayer that lines the luminal surface of mammary gland ducts and alveoli; luminal cells have only limited contact with the underlying basement membrane and surrounding connective ti |
| HP:0010783 | Erythema | MP:0013781 | abnormal mammary gland luminal epithelium morphology | any structural anomaly of the inner cell layer of the mammary epithelium bilayer that lines the luminal surface of mammary gland ducts and alveoli; luminal cells have only limited contact with the underlying basement membrane and surrounding connective ti |
| HP:0000221 | Furrowed tongue | MP:0014171 | increased fatty acid oxidation | increased rate or incidence of the process of removal of one or more electrons from a fatty acid, with or without the concomitant removal of a proton or protons, by reaction with an electron-accepting substance, by addition of oxygen or by removal of hydr |
| HP:0000982 | Palmoplantar keratoderma | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000529 | Progressive visual loss | MP:0020216 | decreased circulating complement protein level | less than normal levels of the serum proteins that act sequentially to allow for the direct killing of microbes, the disposal of immune complexes, and the regulation of other immune processes |
| HP:0001810 | Dystrophic toenail | MP:0013241 | embryo tissue necrosis | morphological changes resulting from pathological death of some or all embryo tissue; usually due to irreversible damage |
| HP:0002213 | Fine hair | MP:0013897 | decreased eyelid cilium number | reduction in the number of the hairs that grow at the edge of the upper or lower eyelid |
| 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:0001072 | Thickened skin | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| 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:0004374 | Hemiplegia/hemiparesis | 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:0005595 | Generalized hyperkeratosis | MP:0013781 | abnormal mammary gland luminal epithelium morphology | any structural anomaly of the inner cell layer of the mammary epithelium bilayer that lines the luminal surface of mammary gland ducts and alveoli; luminal cells have only limited contact with the underlying basement membrane and surrounding connective ti |
| HP:0002797 | Osteolysis | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| 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:0005406 | Recurrent bacterial skin infections | MP:0013799 | abnormal intestinal goblet cell physiology | any functional anomaly of the glandular simple columnar epithelial cell found in the mucosal lining of the small and large intestine, whose primary function is to secrete gel-forming mucins, the major components of mucus; intestinal goblet cells produce a |
| HP:0001804 | Hypoplastic fingernail | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0006739 | Squamous cell carcinoma of the skin | MP:0013501 | increased fibroblast apoptosis | increase in the timing or the number of fibroblast cells undergoing programmed cell death |
| HP:0000028 | Cryptorchidism | 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:0200020 | Corneal erosion | MP:0020087 | increased susceptibility to non-insulin-dependent diabetes | increased likelihood to develop non-insulin-dependent diabetes |
| HP:0002251 | Aganglionic megacolon | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0000670 | Carious teeth | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000966 | Hypohidrosis | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001800 | Hypoplastic toenails | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001321 | Cerebellar hypoplasia | MP:0014185 | cerebellum atrophy | acquired diminution of the size of the cerebellum associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal |
| HP:0001249 | Intellectual disability | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0001025 | Urticaria | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0000365 | Hearing impairment | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0200042 | Skin ulcer | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0000684 | Delayed eruption of 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:0000157 | Abnormality of the tongue | MP:0020169 | increased thyroid gland weight | higher than average weight of the thyroid gland |
| HP:0011496 | Corneal neovascularization | MP:0008658 | decreased interleukin-1 beta secretion | reduction in the production or release of an interleukin-1 subtype that is synthesized as an inactive membrane-bound pro-protein on monocytes, macrophages and other cells; proteolytic processing of the precursor form by caspase 1 results in release of the |
| HP:0008064 | Ichthyosis | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000613 | Photophobia | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0008070 | Sparse hair | 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:0002750 | Delayed skeletal maturation | MP:0020169 | increased thyroid gland weight | higher than average weight of the thyroid gland |
| HP:0100840 | Aplasia/Hypoplasia of the eyebrow | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0000505 | Visual 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:0000499 | Abnormality of the eyelashes | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000491 | Keratitis | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0001596 | Alopecia | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0001315 | Reduced tendon reflexes | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| Disease ID | 978 |
|---|---|
| Disease | kid syndrome |
| Case | (Waiting for update.) |