eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| ehlers-danlos syndrome, kyphoscoliotic type | ||||
| Disease ID | 1654 |
|---|---|
| Disease | ehlers-danlos syndrome, kyphoscoliotic type |
| Definition | Ehlers-Danlos syndrome, type VI is the kyphoscoliosis type Ehlers-Danlos syndrome. It results from mutations in the PLOD1 gene. |
| Synonym | eds vi eds6 eds6a, formerly ehlers-danlos syndrome kyphoscoliotic type ehlers-danlos syndrome kyphoscoliotic type (disorder) ehlers-danlos syndrome type 6 ehlers-danlos syndrome type vi ehlers-danlos syndrome type vi - ocular (recessive) ehlers-danlos syndrome, hydroxylysine-deficient ehlers-danlos syndrome, hydroxylysine-deficient (disorder) ehlers-danlos syndrome, lysyl hydroxylase deficient ehlers-danlos syndrome, ocular-scoliotic type ehlers-danlos syndrome, oculoscoliotic type ehlers-danlos syndrome, type 6 ehlers-danlos syndrome, type 6 a ehlers-danlos syndrome, type vi ehlers-danlos syndrome, type via ehlers-danlos syndrome, type via, formerly hydroxylysine-deficient collagen disease kyphoscoliosis type protocollagen lysyl hydroxylase deficiency |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C0268342 |
| 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) PLOD1 | 1p36.22 |
| Disease ID | 1654 |
|---|---|
| Disease | ehlers-danlos syndrome, kyphoscoliotic type |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:60) HP:0006532 | Pneumonia, recurrent episodes HP:0002239 | Gastrointestinal hemorrhage HP:0007517 | Wrinkled palms and soles HP:0000541 | Retinal detachment HP:0000545 | Myopia HP:0005294 | Arterial dissection HP:0001166 | Long, slender fingers HP:0000592 | Bluish sclerae HP:0001519 | Dolichostenomelia HP:0000678 | Dental crowding HP:0000974 | Hyperextensible skin HP:0000015 | Bladder diverticula HP:0000563 | Keratoconus HP:0001635 | Congestive heart failure HP:0000963 | Thin skin HP:0000541 | Detached retina HP:0000286 | Palpebronasal fold HP:0001373 | Joint dislocations HP:0000987 | Atypical scarring of skin HP:0000618 | Blindness HP:0001939 | Laboratory abnormality HP:0002808 | Gibbus deformity HP:0001762 | Talipes equinovarus HP:0005692 | Joint hyperflexibility HP:0000563 | Conical cornea HP:0001270 | Motor retardation HP:0000993 | Molluscoid pseudotumor HP:0000978 | Bruisability HP:0002647 | Aortic dissection HP:0001252 | Hypotonia HP:0001288 | Gait disturbance HP:0000545 | Near sightedness HP:0001388 | Joint laxity HP:0005280 | Flat, nasal bridge HP:0002650 | Scoliosis HP:0001131 | Corneal dystrophy HP:0000939 | Osteoporosis HP:0003272 | Abnormality of the hip bone HP:0002808 | Kyphosis HP:0001788 | Premature rupture of membranes HP:0000023 | Inguinal hernia HP:0005952 | Decreased lung function HP:0001933 | Subcutaneous hemorrhage HP:0001939 | Abnormality of metabolism/homeostasis HP:0001892 | Abnormal bleeding HP:0001319 | Neonatal hypotonia HP:0002761 | Generalized joint laxity HP:0010727 | Spontaneous rupture of the globe HP:0001558 | Decreased fetal movement HP:0001634 | Mitral valve prolapse HP:0008458 | Progressive congenital scoliosis HP:0000505 | Visual impairment HP:0000488 | Retinopathy HP:0000977 | Soft skin HP:0000098 | Increased body height HP:0001763 | Pes planus HP:0000974 | Stretchable skin HP:0000501 | Glaucoma HP:0002093 | progressive respiratory failure HP:0000482 | Microcornea |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:5) HP:0002669 | Osteosarcoma | 1 HP:0200037 | Skin vesicle | 1 HP:0002617 | Aneurysmal dilatation | 1 HP:0002948 | Fusion of vertebral bodies | 1 HP:0002758 | Osteoarthritis | 1 |
| Disease ID | 1654 |
|---|---|
| Disease | ehlers-danlos syndrome, kyphoscoliotic type |
| 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:11) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs121913550 | NA | 5351 | PLOD1 | umls:C0268342 | CLINVAR | NA | 0.562171535 | NA | PLOD1 | 1 | 11958627 | C | T |
| rs121913551 | NA | 5351 | PLOD1 | umls:C0268342 | CLINVAR | NA | 0.562171535 | NA | PLOD1 | 1 | 11974656 | G | A |
| rs121913552 | NA | 5351 | PLOD1 | umls:C0268342 | CLINVAR | NA | 0.562171535 | NA | PLOD1 | 1 | 11965542 | C | G |
| rs121913553 | NA | 5351 | PLOD1 | umls:C0268342 | CLINVAR | NA | 0.562171535 | NA | PLOD1 | 1 | 11970750 | G | C |
| rs121913554 | NA | 5351 | PLOD1 | umls:C0268342 | CLINVAR | NA | 0.562171535 | NA | PLOD1 | 1 | 11972977 | C | T |
| rs138698098 | NA | 5351 | PLOD1 | umls:C0268342 | CLINVAR | NA | 0.562171535 | NA | PLOD1 | 1 | 11948035 | C | T |
| rs199730384 | 15979919 | 5351 | PLOD1 | umls:C0268342 | UNIPROT | Mutation analysis of the PLOD1 gene: an efficient multistep approach to the molecular diagnosis of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA). | 0.562171535 | 2005 | PLOD1 | 1 | 11972968 | G | A |
| rs557317492 | NA | 5351 | PLOD1 | umls:C0268342 | CLINVAR | NA | 0.562171535 | NA | PLOD1 | 1 | 11974699 | C | T |
| rs797044446 | NA | 5351 | PLOD1 | umls:C0268342 | CLINVAR | NA | 0.562171535 | NA | PLOD1 | 1 | 11966260 | GAG | - |
| rs797044447 | NA | 5351 | PLOD1 | umls:C0268342 | CLINVAR | NA | 0.562171535 | NA | PLOD1 | 1 | 11966985 | A | - |
| rs797044448 | NA | 5351 | PLOD1 | umls:C0268342 | CLINVAR | NA | 0.562171535 | NA | PLOD1 | 1 | 11952736 | G | A |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:23) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001788 | Premature rupture of membranes | 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:0001933 | Subcutaneous hemorrhage | MP:0011437 | glomerulus hemorrhage | bleeding in the renal glomerulus |
| HP:0001319 | Neonatal hypotonia | MP:0004144 | hypotonia | decreased muscle tension resulting in limpness of the muscles in the resting state, not to be confused with weakness |
| HP:0003272 | Abnormality of the hip bone | 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:0000541 | Retinal detachment | MP:0003099 | retinal detachment | detachment of the retina from the underlying inner wall of the eye, often from tension of the vitreous; may occur with aging or as a result of trauma |
| HP:0002647 | Aortic dissection | MP:0004044 | aortic dissection | a pathologic process, characterized by splitting of the media layer of the aorta, which leads to formation of a dissecting aneurysm |
| HP:0005280 | Depressed nasal bridge | MP:0013582 | abnormal lateral nasal gland morphology | any structural anomaly of the lateral nasal glands (the largest nasal secretory glands in rodents) which surround the maxillary sinus located in the lateral wall adjacent to each nasal passage and are characterized by cytologic features similar to those d |
| HP:0002761 | Generalized joint laxity | MP:0002932 | abnormal joint morphology | any structural anomaly of the moveable articulation point of two or more bones |
| HP:0001892 | Abnormal bleeding | MP:0005606 | increased bleeding time | greater than the normal duration of blood flow after skin puncture; indicative of platelet and capillary function |
| HP:0000974 | Hyperextensible 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:0000023 | Inguinal hernia | MP:0010146 | umbilical hernia | an outward bulging (protrusion) of the abdominal lining or part of the abdominal organ(s) through the area around the umbilicus; occurs when the muscle through which blood vessels pass to feed the developing fetus fails to completely close |
| HP:0001252 | Muscular hypotonia | MP:0004144 | hypotonia | decreased muscle tension resulting in limpness of the muscles in the resting state, not to be confused with weakness |
| HP:0001558 | Decreased fetal movement | MP:0013603 | abnormal fetal Leydig cell differentiation | atypical formation of or inability to produce the first or fetal population of Leydig cells (FLCs); in mice, FLCs arise in the testicular interstitium between E12.5 and E13.0, approximately 1 day after the appearance of Sertoli cells; Sertoli cells trigge |
| HP:0000978 | Bruising susceptibility | MP:0005596 | increased susceptibility to type I hypersensitivity reaction | greater likelihood of developing a response manifested by localized or generalized reaction that occurs immediately (minutes) after exposure to an antigen to which the person/animal was previously sensitized; it is IgE-mediated, and mast cell activation a |
| HP:0000963 | Thin 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: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:0002239 | Gastrointestinal hemorrhage | MP:0012305 | umbilical cord hemorrhage | bleeding into or from the umbilical cord |
| HP:0001634 | Mitral valve prolapse | MP:0010617 | thick mitral valve cusps | an increase in the ratio of the mitral valve cusp wall thickness to the atrioventricular septum thickness |
| HP:0006532 | Recurrent pneumonia | MP:0001862 | interstitial pneumonia | any of a group of inflammatory and fibrotic disorders of the lower respiratory tract, primarily affecting the supporting framework of the lung, including the alveolar wall, but may also involve the small airways and blood vessels of the lung parenchyma |
| HP:0001635 | Congestive heart failure | MP:0011925 | abnormal heart echocardiography feature | any anomaly in echocardiographic representation of systolic and diastolic function, ventricular compliance, valvular function, or interventricular septum features |
| HP:0000977 | Soft skin | MP:0009932 | skin fibrosis | invasion of fibrous connective tissue into the skin, often resulting from inflammation or injury |
| HP:0005294 | Arterial dissection | MP:0004044 | aortic dissection | a pathologic process, characterized by splitting of the media layer of the aorta, which leads to formation of a dissecting aneurysm |
| HP:0001939 | Abnormality of metabolism/homeostasis | 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 |
Mapped by homologous gene(Total Items:53) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001252 | Muscular hypotonia | 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:0002650 | Scoliosis | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| 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:0001634 | Mitral valve prolapse | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000978 | Bruising susceptibility | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0001288 | Gait disturbance | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0005952 | Decreased pulmonary function | MP:0010053 | decreased grip strength | reduced ability to grasp and hold objects, often measured as time spent hanging from an object or wire |
| HP:0000098 | Tall stature | 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:0007517 | Palmoplantar cutis laxa | 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:0000592 | Blue sclerae | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0005294 | Arterial dissection | MP:0011575 | dilated aorta bulb | the luminal space of the aorta bulb is increased in volume or area, usually with an increase of contained fluid |
| HP:0000501 | Glaucoma | 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:0001319 | Neonatal hypotonia | MP:0020214 | susceptible to malignant hyperthermia | increased susceptibility to hyperthermia triggered by exposure to certain drugs used for general anesthesia, specifically the volatile anesthetic agents and the neuromuscular blocking agent, succinylcholine |
| HP:0000618 | Blindness | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002093 | Respiratory insufficiency | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000482 | Microcornea | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001788 | Premature rupture of membranes | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000541 | Retinal detachment | 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:0000939 | Osteoporosis | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0001892 | Abnormal bleeding | MP:0020138 | delayed bone mineralization | late onset of the process by which minerals are deposited into bone |
| HP:0005280 | Depressed nasal bridge | 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:0001373 | Joint dislocation | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0008458 | Progressive congenital scoliosis | MP:0010053 | decreased grip strength | reduced ability to grasp and hold objects, often measured as time spent hanging from an object or wire |
| HP:0006532 | Recurrent pneumonia | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0001388 | Joint laxity | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0000963 | Thin skin | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000563 | Keratoconus | 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:0001939 | Abnormality of metabolism/homeostasis | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0001558 | Decreased fetal movement | MP:0020214 | susceptible to malignant hyperthermia | increased susceptibility to hyperthermia triggered by exposure to certain drugs used for general anesthesia, specifically the volatile anesthetic agents and the neuromuscular blocking agent, succinylcholine |
| HP:0000993 | Molluscoid pseudotumors | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000286 | Epicanthus | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000488 | Retinopathy | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001166 | Arachnodactyly | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0001635 | Congestive heart failure | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0000015 | Bladder diverticulum | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0000545 | Myopia | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0001762 | Talipes equinovarus | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001270 | Motor delay | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0000678 | Dental crowding | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0001933 | Subcutaneous hemorrhage | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0000023 | Inguinal hernia | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0001763 | Pes planus | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0005692 | Joint hyperflexibility | MP:0012125 | decreased bronchoconstrictive response | reduction in the expected bronchoconstrictive response to provocation challenge with lipopolysaccharide, bradykinin, histamine or other antigen/allergen or agent, often measured by plethysmography |
| HP:0002647 | Aortic dissection | MP:0012125 | decreased bronchoconstrictive response | reduction in the expected bronchoconstrictive response to provocation challenge with lipopolysaccharide, bradykinin, histamine or other antigen/allergen or agent, often measured by plethysmography |
| HP:0002808 | Kyphosis | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0002761 | Generalized joint laxity | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000974 | Hyperextensible skin | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| 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:0000977 | Soft skin | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0003272 | Abnormality of the hip bone | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| 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 | 1654 |
|---|---|
| Disease | ehlers-danlos syndrome, kyphoscoliotic type |
| Case | (Waiting for update.) |