eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| kindler syndrome | ||||
| Disease ID | 721 |
|---|---|
| Disease | kindler syndrome |
| Definition | Kindler syndrome (also known as Bullous acrokeratotic poikiloderma of Kindler and Weary,,[1] Congenital poikiloderma with blisters and keratoses,[1] Congenital poikiloderma with bullae and progressive cutaneous atrophy,[1] Hereditary acrokeratotic poikiloderma,[1] Hyperkeratosis–hyperpigmentation syndrome,[2]:511 Acrokeratotic poikiloderma, and Weary–Kindler syndrome[3]:558) is a rare congenital disease of the skin caused by a mutation in the KIND1 gene. - Wikipedia Reference: https://en.wikipedia.org/wiki/kindler syndrome |
| Synonym | bullous acrokeratotic poikiloderma of kindler and weary congenital bullous poikiloderma kindler's syndrome kindler's syndrome (disorder) kndlrs poikiloderma of kindler poikiloderma, congenital, with bullae, weary type poikiloderma, hereditary acrokeratotic |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C0406557 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:6) |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:17) 648 | BMI1 | 1.033 | DISEASES 1308 | COL17A1 | 2.75 | DISEASES 1294 | COL7A1 | 3.553 | DISEASES 1785 | DNM2 | 1.184 | DISEASES 1893 | ECM1 | 2.059 | DISEASES 2035 | EPB41 | 1.76 | DISEASES 7430 | EZR | 2.706 | DISEASES 54751 | FBLIM1 | 5.684 | DISEASES 10979 | FERMT2 | 6.045 | DISEASES 10013 | HDAC6 | 1.48 | DISEASES 8517 | IKBKG | 1.309 | DISEASES 3655 | ITGA6 | 1.769 | DISEASES 4478 | MSN | 3.045 | DISEASES 26151 | NAT9 | 3.963 | DISEASES 58484 | NLRC4 | 1.836 | DISEASES 5962 | RDX | 3.207 | DISEASES 387 | RHOA | 1.489 | DISEASES |
| Locus | Symbol | Locus(Total Locus:1) FERMT1 | 20p12.3 |
| Disease ID | 721 |
|---|---|
| Disease | kindler syndrome |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:55) HP:0002860 | Squamous cell carcinoma HP:0000670 | Carious teeth HP:0000262 | Turricephaly HP:0004334 | Atrophic skin HP:0000670 | Dental caries HP:0000682 | Abnormality of dental enamel HP:0002015 | Dysphagia HP:0005585 | Spotty increased pigmentation HP:0004378 | Abnormality of the anus HP:0007488 | Diffuse skin atrophy HP:0000929 | Abnormality of the skull HP:0001741 | Phimosis HP:0430007 | Symblepharon HP:0001000 | Abnormality of skin pigmentation HP:0002037 | Inflammation of the large intestine HP:0010044 | Short 4th metacarpal HP:0100517 | Neoplasm of the urethra HP:0006323 | Premature loss of primary teeth HP:0100825 | Cheilitis HP:0010783 | Erythema HP:0000987 | Atypical scarring of skin HP:0001371 | Flexion contracture HP:0001029 | Poikiloderma HP:0006101 | Finger syndactyly HP:0000704 | Periodontitis HP:0000972 | Thick palms and soles HP:0200020 | Corneal erosion HP:0001056 | Milia HP:0000772 | Abnormality of the ribs HP:0008066 | Abnormal blistering of the skin HP:0000982 | Palmoplantar keratoderma HP:0001903 | Anemia HP:0001602 | Laryngeal stenosis HP:0008388 | Abnormality of the toenails HP:0000992 | Skin photosensitivity HP:0000962 | Hyperkeratosis HP:0007957 | Corneal opacity HP:0005590 | Spotty hypopigmentation HP:0000230 | Gingivitis HP:0000656 | Ectropion HP:0002583 | Colitis HP:0001807 | Grooved nails HP:0009775 | Amniotic constriction ring HP:0100633 | Esophagitis HP:0002043 | Esophageal stricture HP:0000704 | Pyorrhea HP:0000992 | Cutaneous photosensitivity HP:0012227 | Urethral stricture HP:0007561 | Telangiectases in sun-exposed and nonexposed skin HP:0000509 | Conjunctivitis HP:0100490 | Camptodactyly of finger HP:0001030 | Fragile skin HP:0008065 | Aplasia/Hypoplasia of the skin HP:0010047 | Short 5th metacarpal HP:0001581 | Recurrent skin infections |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:10) HP:0002860 | Squamous cell carcinoma | 1 HP:0003002 | Breast carcinoma | 1 HP:0003287 | Abnormality of mitochondrial metabolism | 1 HP:0007410 | Excessive sweating of palms and soles | 1 HP:0001875 | Neutropenia | 1 HP:0006739 | Squamous cell carcinoma of the skin | 1 HP:0010450 | Narrowing of the esophagus | 1 HP:0030731 | Carcinoma | 1 HP:0012118 | Cancer of the larynx | 1 HP:0000975 | Increased sweating | 1 |
| Disease ID | 721 |
|---|---|
| Disease | kindler syndrome |
| 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:5) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs121918292 | NA | 55612 | FERMT1 | umls:C0406557 | CLINVAR | NA | 0.566786047 | NA | FERMT1 | 20 | 6107594 | G | A |
| rs121918293 | NA | 55612 | FERMT1 | umls:C0406557 | CLINVAR | NA | 0.566786047 | NA | FERMT1 | 20 | 6107570 | G | A |
| rs121918293 | 16702500 | 55612 | FERMT1 | umls:C0406557 | BeFree | In this case, a combination of a known mutation (R271X) and a newly described mutation (1755delT) in the KIND1 gene produced loss of function in kindlin-1, leading to the clinical features of KS. | 0.566786047 | 2006 | FERMT1 | 20 | 6107570 | G | A |
| rs121918294 | NA | 55612 | FERMT1 | umls:C0406557 | CLINVAR | NA | 0.566786047 | NA | FERMT1 | 20 | 6097619 | G | A |
| rs146180696 | 14962093 | 55612 | FERMT1 | umls:C0406557 | BeFree | In this study, we identified four new recurrent mutations in KIND1 in 16 individuals with Kindler syndrome from 13 families of Pakistani (676insC), UK Caucasian (E304X), Omani (W616X), or Italian (958-1G > A) origins. | 0.566786047 | 2004 | FERMT1 | 20 | 6097571 | C | A |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:25) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0007488 | Diffuse skin atrophy | MP:0002060 | abnormal skin morphology | any structural anomaly of the membranous protective covering of the body |
| HP:0000670 | Carious teeth | MP:0004033 | supernumerary teeth | occurrence of more than the usual number of teeth |
| HP:0000972 | Palmoplantar hyperkeratosis | MP:0001242 | hyperkeratosis | thickening of the horny layer of the epidermis |
| HP:0006323 | Premature loss of primary teeth | 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: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:0010047 | Short 5th metacarpal | MP:0004634 | short metacarpal bones | reduced length of the five bones of the forepaws that articulate proximally with the carpal bones and distally with the phalanges |
| 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:0006101 | Finger syndactyly | MP:0000564 | syndactyly | any degree of webbing or fusion of the digits, may involve only soft tissues or also can include bone |
| HP:0007561 | Telangiectases in sun-exposed and nonexposed skin | MP:0002060 | abnormal skin morphology | any structural anomaly of the membranous protective covering of the body |
| HP:0000992 | Cutaneous photosensitivity | MP:0001202 | skin photosensitivity | abnormally heightened reactivity of the skin to sunlight |
| HP:0002860 | Squamous cell carcinoma | MP:0011903 | decreased hematopoietic stem cell proliferation | reduction in the expansion rate of a hematopoietic stem cell population by cell division |
| HP:0001000 | Abnormality of skin pigmentation | 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:0010044 | Short 4th metacarpal | MP:0003073 | abnormal metacarpal bone morphology | any structural anomaly in the five bones of the forepaws/hands that articulate proximally with the carpal bones and distally with the phalanges |
| HP:0000987 | Atypical scarring of skin | MP:0011205 | excessive folding of visceral yolk sac | the appearance of wrinkles or folds on the surface of the visceral yolk sac |
| HP:0001807 | Ridged nail | MP:0012405 | abnormal nail matrix morphology | any structural anomaly of the nail-forming area of the nail bed comprised of a germinal matrix, responsible for most of the nail production, and the sterile matrix, a secondary site of nail production which is tightly adherent to the nail plate |
| HP:0002037 | Inflammation of the large intestine | MP:0004842 | abnormal large intestine crypts of Lieberkuhn morphology | any structural anomaly of the tubular intestinal glands found in the mucosal membranes of the large intestine |
| 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:0008065 | Aplasia/Hypoplasia of the skin | 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:0000682 | Abnormality of dental enamel | 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:0001581 | Recurrent skin infections | MP:0009932 | skin fibrosis | invasion of fibrous connective tissue into the skin, often resulting from inflammation or injury |
| HP:0100490 | Camptodactyly of finger | 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:0004378 | Abnormality of the anus | MP:0004499 | increased incidence of tumors by chemical induction | higher than normal frequency of tumor incidence induced by one or more chemical carcinogens or mutagens |
| HP:0004334 | Dermal atrophy | MP:0011346 | renal tubule atrophy | acquired diminution of the size of the loops of Henle, the proximal convoluted tubule or the distal convoluted tubule associated with wasting as from death and reabsorbtion of cells, diminished cellular proliferation, decreased cellular volume, pressure, |
| HP:0007957 | Corneal opacity | MP:0009859 | eye opacity | changes in the eye grossly observed as a milky or cloudy appearance that may be progressive and persistent throughout life |
| HP:0001030 | Fragile skin | MP:0009473 | abnormal skin exfoliation | anomaly in the process of detachment and shedding of superficial cells of a skin epithelium |
Mapped by homologous gene(Total Items:50) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000987 | Atypical scarring of skin | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000509 | Conjunctivitis | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0001581 | Recurrent skin infections | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| 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:0002015 | Dysphagia | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0000982 | Palmoplantar keratoderma | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0004334 | Dermal atrophy | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0007561 | Telangiectases in sun-exposed and nonexposed skin | MP:0011085 | postnatal lethality, complete penetrance | premature death anytime between the neonatal period and weaning age of all organisms of a given genotype in a population (Mus: P1 to approximately 3 weeks of age) |
| 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:0010044 | Short 4th metacarpal | MP:0013785 | abnormal mammary gland bud morphology | any structural anomaly of the morphologically distinct bulb of epithelial cells formed once each mammary placode expands and invaginates into the underlying mesenchyme; in mouse embryos at E12.5, each epithelial bud with its contiguous mesenchyme is eleva |
| HP:0001371 | Flexion contracture | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0000682 | Abnormality of dental enamel | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0006323 | Premature loss of primary teeth | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| 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:0007488 | Diffuse skin atrophy | MP:0011085 | postnatal lethality, complete penetrance | premature death anytime between the neonatal period and weaning age of all organisms of a given genotype in a population (Mus: P1 to approximately 3 weeks of age) |
| HP:0000772 | Abnormality of the ribs | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001602 | Laryngeal stenosis | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002037 | Inflammation of the large intestine | MP:0013803 | increased IgG2 level | greater than normal immunoglobulin class G2 level |
| HP:0000992 | Cutaneous photosensitivity | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000929 | Abnormality of the skull | 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:0200020 | Corneal erosion | MP:0020087 | increased susceptibility to non-insulin-dependent diabetes | increased likelihood to develop non-insulin-dependent diabetes |
| HP:0001000 | Abnormality of skin pigmentation | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0007957 | Corneal opacity | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0002583 | Colitis | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0004378 | Abnormality of the anus | MP:0012431 | increased lymphoma incidence | greater than the expected number of neoplasms characterized by a proliferation of malignant lymphocytes in lymphoid tissue in a specific population in a given time period |
| 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:0005590 | Spotty hypopigmentation | MP:0013886 | increased CD4-negative, CD25-positive NK T cell number | increase in the number of CD4-negative NK T cells expressing the activation marker CD25 |
| HP:0000262 | Turricephaly | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000670 | Carious teeth | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| 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:0006101 | Finger syndactyly | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0100490 | Camptodactyly of finger | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001056 | Milia | MP:0012431 | increased lymphoma incidence | greater than the expected number of neoplasms characterized by a proliferation of malignant lymphocytes in lymphoid tissue in a specific population in a given time period |
| HP:0005585 | Spotty hyperpigmentation | MP:0012431 | increased lymphoma incidence | greater than the expected number of neoplasms characterized by a proliferation of malignant lymphocytes in lymphoid tissue in a specific population in a given time period |
| HP:0002860 | Squamous cell carcinoma | MP:0013502 | decreased fibroblast apoptosis | reduction in the timing or the number of fibroblast 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:0000962 | Hyperkeratosis | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001029 | Poikiloderma | MP:0013787 | photophobia | abnormal aversion or avoidance behavior in response to light; photophobia is symptom of abnormal intolerance to visual perception of light; as a medical symptom, photophobia is not a morbid fear or phobia, but an experience of discomfort or pain to the e |
| HP:0000230 | Gingivitis | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001807 | Ridged nail | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002043 | Esophageal stricture | MP:0013501 | increased fibroblast apoptosis | increase in the timing or the number of fibroblast cells undergoing programmed cell death |
| HP:0012227 | Urethral stricture | MP:0013501 | increased fibroblast apoptosis | increase in the timing or the number of fibroblast cells undergoing programmed cell death |
| HP:0001030 | Fragile skin | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0001741 | Phimosis | MP:0013501 | increased fibroblast apoptosis | increase in the timing or the number of fibroblast cells undergoing programmed cell death |
| HP:0100633 | Esophagitis | 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:0010047 | Short 5th metacarpal | 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:0008065 | Aplasia/Hypoplasia of the skin | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0100825 | Cheilitis | MP:0013367 | parotid gland inflammation | local accumulation of fluid, plasma proteins, and leukocytes in either of the largest of the major salivary glands situated below and in front of each ear |
| HP:0000704 | Periodontitis | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000656 | Ectropion | MP:0013787 | photophobia | abnormal aversion or avoidance behavior in response to light; photophobia is symptom of abnormal intolerance to visual perception of light; as a medical symptom, photophobia is not a morbid fear or phobia, but an experience of discomfort or pain to the e |
| Disease ID | 721 |
|---|---|
| Disease | kindler syndrome |
| Case | (Waiting for update.) |