eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| cowden syndrome | ||||
| Disease ID | 16 |
|---|---|
| Disease | cowden syndrome |
| Definition | A hereditary disease characterized by multiple ectodermal, mesodermal, and endodermal nevoid and neoplastic anomalies. Facial trichilemmomas and papillomatous papules of the oral mucosa are the most characteristic lesions. Individuals with this syndrome have a high risk of BREAST CANCER; THYROID CANCER; and ENDOMETRIAL CANCER. This syndrome is associated with mutations in the gene for PTEN PHOSPHATASE. |
| Synonym | cowden dis cowden disease cowden syndrome (disorder) cowden syndrome 1 cowden's disease cowden's syndrome cowdens dis cowdens disease cowdens syndrome cowdens syndromes cws1 hamartoma syndrome, multiple hamartoma syndrome, multiple [disease/finding] hamartoma syndromes, multiple mham multiple hamartoma syndrome multiple hamartoma syndromes pten hamartoma syndrome |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C0018553 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:44) C0007115 | thyroid ca | 3 C0006142 | breast cancer | 2 C0018552 | hamartomatous | 2 C0007115 | thyroid cancer | 2 C0024899 | mastocytosis | 1 C0023801 | lipomatosis | 1 C0023798 | lipomas | 1 C0040128 | thyroid disease | 1 C0476089 | endometrial ca | 1 C0007113 | rectal cancer | 1 C0751690 | malignant peripheral nerve sheath tumor | 1 C0376480 | gingival overgrowth | 1 C0879615 | stromal tumor | 1 C0221355 | macrocephaly | 1 C0018552 | hamartomas | 1 C1704273 | endometrial polyp | 1 C0018023 | nodular goitre | 1 C0342208 | multinodular goitre | 1 C0018021 | goitre | 1 C0009402 | colorectal cancer | 1 C0004096 | bronchial asthma | 1 C0392784 | dermatofibrosarcoma protuberans | 1 C1704273 | endometrial polyps | 1 C1619734 | pulmonary arterial hypertension | 1 C1515107 | synchronous bilateral breast carcinoma | 1 C1321489 | muir-torre syndrome | 1 C0238198 | gastrointestinal stromal tumor (gist) | 1 C0221013 | systemic mastocytosis | 1 C0023798 | lipoma | 1 C0020538 | hypertension | 1 C0376358 | prostate cancer | 1 C0007102 | colon cancer | 1 C0014544 | epilepsy | 1 C0162849 | lichen nitidus | 1 C0549473 | thyroid carcinoma | 1 C0014547 | partial epilepsy | 1 C0476089 | endometrial cancer | 1 C0020555 | hypertrichosis | 1 C0018552 | hamartoma | 1 C0238198 | gastrointestinal stromal tumor | 1 C0281267 | bilateral breast carcinoma | 1 C0206682 | follicular thyroid cancer | 1 C0678222 | breast carcinoma | 1 C0019204 | hepatocellular carcinoma | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:9) |
| Inferring Gene | Entrez_id | Symbol | Resource(Total Genes:5) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:47) 672 | BRCA1 | 3.552 | DISEASES 675 | BRCA2 | 3.552 | DISEASES 796 | CALCA | 1.541 | DISEASES 79577 | CDC73 | 1.569 | DISEASES 11200 | CHEK2 | 1.549 | DISEASES 387836 | CLEC2A | 1.083 | DISEASES 9547 | CXCL14 | 1.015 | DISEASES 1586 | CYP17A1 | 1.129 | DISEASES 1641 | DCX | 1.409 | DISEASES 9829 | DNAJC6 | 2.878 | DISEASES 2271 | FH | 1.765 | DISEASES 2316 | FLNA | 1.068 | DISEASES 3399 | ID3 | 1.056 | DISEASES 56704 | JPH1 | 2.976 | DISEASES 100144748 | KLLN | 5.736 | DISEASES 116372 | LYPD1 | 4.799 | DISEASES 4221 | MEN1 | 2.161 | DISEASES 9562 | MINPP1 | 2.719 | DISEASES 4535 | MT-ND1 | 1.134 | DISEASES 2475 | MTOR | 2.493 | DISEASES 4595 | MUTYH | 2.635 | DISEASES 4734 | NEDD4 | 1.098 | DISEASES 4763 | NF1 | 2.03 | DISEASES 5048 | PAFAH1B1 | 2.001 | DISEASES 9060 | PAPSS2 | 2.146 | DISEASES 143 | PARP4 | 2.129 | DISEASES 5294 | PIK3CG | 1.595 | DISEASES 5378 | PMS1 | 2.715 | DISEASES 5424 | POLD1 | 1.499 | DISEASES 5727 | PTCH1 | 1.841 | DISEASES 5728 | PTEN | 7.436 | DISEASES 8437 | RASAL1 | 1.96 | DISEASES 5649 | RELN | 1.628 | DISEASES 5979 | RET | 2.387 | DISEASES 6390 | SDHB | 3.205 | DISEASES 6391 | SDHC | 2.421 | DISEASES 6392 | SDHD | 3.28 | DISEASES 4089 | SMAD4 | 2.956 | DISEASES 57522 | SRGAP1 | 2.386 | DISEASES 6794 | STK11 | 3.693 | DISEASES 92335 | STRADA | 2.095 | DISEASES 6925 | TCF4 | 1.721 | DISEASES 117145 | THEM4 | 1.364 | DISEASES 7329 | UBE2I | 1.13 | DISEASES 7332 | UBE2L3 | 1.65 | DISEASES 157680 | VPS13B | 1.12 | DISEASES 7516 | XRCC2 | 3.255 | DISEASES |
| Locus | Symbol | Locus(Total Locus:8) |
| Disease ID | 16 |
|---|---|
| Disease | cowden syndrome |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:87) HP:0012733 | Macule HP:0002858 | Mengiomia HP:0004322 | Short stature HP:0000365 | Hearing impairment HP:0002858 | Meningioma HP:0000218 | High palate HP:0010619 | Fibroadenoma of the breast HP:0000821 | Underactive thyroid HP:0000130 | Abnormality of the uterus HP:0000836 | Overactive thyroid HP:0000771 | Gynecomastia HP:0000221 | Furrowed tongue HP:0000256 | Macrocephaly HP:0000138 | Ovarian cyst HP:0001508 | Failure to thrive HP:0100780 | Conjunctival hamartoma HP:0010609 | Skin tags HP:0000036 | Abnormality of the penis HP:0004481 | Progressively abnormally enlarging cranium HP:0100543 | Cognitive impairment HP:0000347 | Hypoplasia of mandible HP:0000545 | Myopia HP:0006731 | Follicular thyroid carcinoma HP:0100579 | Mucosal telangiectasiae HP:0000767 | Pectus excavatum HP:0001251 | Ataxia HP:0005374 | Cellular immunodeficiency HP:0000771 | Gynaecomastia HP:0012114 | Endometrial carcinoma HP:0002516 | Increased intracranial pressure HP:0000982 | Palmoplantar keratoderma HP:0100031 | Neoplasm of the thyroid gland HP:0005595 | Generalized hyperkeratosis HP:0000327 | Maxillary micrognathia HP:0004390 | Hamartomatous polyps HP:0000995 | Melanocytic nevus HP:0001249 | Intellectual disability HP:0008675 | Enlarged polycystic ovaries HP:0002597 | Abnormality of blood vessels HP:0000160 | Small mouth HP:0007565 | Multiple cafe-au-lait spots HP:0200034 | Papule HP:0003002 | Breast carcinoma HP:0001317 | Abnormality of the cerebellum HP:0001263 | Global developmental delay HP:0000767 | Funnel chest HP:0008069 | Neoplasm of the skin HP:0001156 | Brachydactyly syndrome HP:0010614 | Fibroma HP:0100646 | Thyroiditis HP:0001031 | Subcutaneous lipoma HP:0000221 | Scrotal tongue HP:0001250 | Seizures HP:0002080 | Intention tremor HP:0000218 | Increased palatal height HP:0002650 | Scoliosis HP:0002808 | Kyphosis HP:0012871 | Varicocele HP:0000853 | Goiter HP:0200063 | Colorectal polyposis HP:0000854 | Thyroid adenoma HP:0012740 | Papilloma HP:0004390 | Hamartomatous polyposis HP:0000518 | Cataract HP:0006740 | Transitional cell bladder carcinoma HP:0001048 | Cavernous hemangioma HP:0012032 | Lipoma HP:0001482 | Subcutaneous nodule HP:0000034 | Testicular hydrocele HP:0009720 | Adenoma sebaceum HP:0000853 | Goitre HP:0002808 | Gibbus deformity HP:0001053 | Hypopigmented skin patches HP:0000972 | Thick palms and soles HP:0001102 | Angioid streaks HP:0005584 | Renal cell carcinoma HP:0000158 | Macroglossia HP:0002861 | Melanoma HP:0002253 | Colonic diverticulosis HP:0002664 | Neoplasm HP:0000077 | Abnormality of the kidney HP:0000545 | Near sightedness HP:0000820 | Abnormality of the thyroid gland HP:0012062 | Bone cyst HP:0000717 | Autism HP:0001256 | Mild mental retardation HP:0100006 | Neoplasm of the central nervous system |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:27) HP:0002664 | Neoplasia | 6 HP:0030731 | Carcinoma | 3 HP:0003002 | Breast carcinoma | 3 HP:0001548 | Overgrowth | 2 HP:0000822 | Hypertension | 2 HP:0000853 | Goitre | 1 HP:0012500 | Papillomatous papule | 1 HP:0001402 | Hepatocellular carcinoma | 1 HP:0200034 | Papule | 1 HP:0000212 | Gingival overgrowth | 1 HP:0012844 | Trichilemmoma | 1 HP:0000998 | Hypertrichosis | 1 HP:0002539 | Cortical dysplasia | 1 HP:0003003 | Colon cancer | 1 HP:0100697 | Neurofibrosarcoma | 1 HP:0012032 | Lipoma | 1 HP:0002835 | Aspiration | 1 HP:0002890 | Thyroid carcinoma | 1 HP:0000256 | Macrocrania | 1 HP:0000820 | Thyroid abnormality | 1 HP:0010566 | Hamartoma | 1 HP:0002099 | Asthma | 1 HP:0004947 | Arteriovenous fistula | 1 HP:0100013 | Tumours of the breast | 1 HP:0001012 | Multiple lipomas | 1 HP:0100495 | Mastocytosis | 1 HP:0012125 | Prostate cancer | 1 |
| Disease ID | 16 |
|---|---|
| Disease | cowden syndrome |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:10) C1515107 | synchronous bilateral breast carcinoma C1334455 | pulmonary sclerosing hemangioma C1302724 | cutaneous hamartoma C0678222 | breast carcinoma C0678222 | breast cancer C0549473 | thyroid carcinoma C0391826 | lhermitte-duclos disease C0346185 | ovarian dysgerminoma C0238033 | male breast cancer C0018552 | hamartomas |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:5) C0006142 | breast cancer | 2 C0678222 | breast carcinoma | 1 C0018552 | hamartomas | 1 C0549473 | thyroid carcinoma | 1 C1515107 | synchronous bilateral breast carcinoma | 1 |
Manually Genotype(Total Manually Genotypes:4) | |||
|---|---|---|---|
| Gene | Mutation | DOI | Article Title |
| PTEN | Het dup exon 1–5 | doi:10.1038/gim.2011.65 | Exon-level array CGH in a large clinical cohort demonstrates increased sensitivity of diagnostic testing for Mendelian disorders |
| PTEN | Het del whole gene | doi:10.1038/gim.2011.65 | Exon-level array CGH in a large clinical cohort demonstrates increased sensitivity of diagnostic testing for Mendelian disorders |
| PTEN | Het del exon 3–9 | doi:10.1038/gim.2011.65 | Exon-level array CGH in a large clinical cohort demonstrates increased sensitivity of diagnostic testing for Mendelian disorders |
| PTEN | Mosaic del exon 6–9 | doi:10.1038/gim.2011.65 | Exon-level array CGH in a large clinical cohort demonstrates increased sensitivity of diagnostic testing for Mendelian disorders |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:1) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs121909231 | 25756585 | 5728 | PTEN | umls:C0018553 | BeFree | A PTEN mutation, c.1003C>T p.(Arg335Ter), was subsequently identified as the cause of Cowden syndrome in another family member (a nephew) with dysplastic gangliocytoma of the cerebellum (Lhermitte-Duclos disease), and genetic testing in the proband's daughter indicated that he was an obligate carrier of the mutation. | 0.521446 | 2015 | PTEN | 10 | 87961095 | 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:27) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000034 | Hydrocele testis | MP:0001146 | abnormal testis morphology | any structural anomaly of the male reproductive glands |
| HP:0005584 | Renal cell carcinoma | MP:0013774 | decreased KLRG1-positive T-helper cell number | reduction in the number of CD4-positive alpha-beta T-helper cells expressing KLRG1, a marker associated with activation |
| HP:0000972 | Palmoplantar hyperkeratosis | MP:0001242 | hyperkeratosis | thickening of the horny layer of the epidermis |
| HP:0000221 | Furrowed tongue | MP:0000764 | abnormal tongue epithelium morphology | any structural anomaly of the epithelial layer of the tongue |
| HP:0006731 | Follicular thyroid carcinoma | MP:0005314 | absent thyroid gland | lack of the endocrine gland that is normally located in the front and to the sides of the upper part of the trachea and which secretes thyroid hormone and calcitonin |
| HP:0001508 | Failure to thrive | MP:0013294 | prenatal lethality prior to heart atrial septation | death prior to the completion of heart atrial septation (Mus: E14.5-15.5) |
| HP:0000160 | Narrow mouth | MP:0000452 | abnormal mouth morphology | any structural anomaly of the oral cavity |
| HP:0001048 | Cavernous hemangioma | MP:0002947 | increased hemangioma incidence | greater than the expected number of a benign tumor characterized by blood-filled spaces lined by benign endothelial cells, occurring in a specific population in a given time period; a cavernous hemangioma is characterized by large endothelial spaces (cave |
| HP:0100780 | Conjunctival hamartoma | MP:0010306 | increased hamartoma incidence | greater than the expected number of benign focal malformations in a specific population in a given time period; results from faulty development of an organ, and is composed of an abnormal mixture of tissue elements, or an abnormal proportion of a single e |
| HP:0012114 | Endometrial carcinoma | MP:0010346 | increased thyroid carcinoma incidence | greater than the expected number of a malignant epithelial neoplasms of the thyroid gland, occurring in a specific population in a given time period |
| HP:0000218 | High palate | MP:0011615 | submucous cleft palate | a cleft of the palate with cardinal signs including a bifid uvula, a V-shaped notch at the back of the hard palate, and/or a translucent line in the midline of the soft palate and a short palate |
| HP:0001263 | Global developmental delay | MP:0002084 | abnormal developmental patterning | abnormal systematic arrangement of the developing body along an axis |
| HP:0000036 | Abnormality of the penis | MP:0009352 | impaired spacing of implantation sites | in organisms which give birth to multiple offspring in one litter, blastocysts fail to implant at intervals conducive to the formation of a normal enveloping membrane or decidua for each conceptus from the epithelial tissue of the endometrium lining of th |
| HP:0010619 | Fibroadenoma of the breast | 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:0003002 | Breast carcinoma | MP:0010367 | increased spindle cell carcinoma incidence | greater than the expected number of a highly malignant variant of squamous cell carcinoma, occurring in a specific population in a given time period; spindle cell carcinoma shows biphasic proliferation of conventional SCC component and malignant spindle s |
| HP:0100031 | Neoplasm of the thyroid gland | MP:0010316 | increased thyroid tumor incidence | greater than the expected number of neoplams in the thyroid occurring in a specific population in a given time period |
| HP:0012062 | Bone cyst | MP:0003414 | epidermal cyst | a benign mass derived from the epidermis or the epithelium of a hair follicle, formed by enclosure of epithelium within the dermis and filled with keratin and lipid-rich inclusions |
| HP:0000854 | Thyroid adenoma | MP:0003496 | increased thyroid adenoma incidence | greater than the expected number of a benign epithelial neoplasm with a glandular organization arising in the thyroid gland, occurring in a specific population in a given time period |
| HP:0001102 | Angioid streaks of the retina | 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:0008069 | Neoplasm of the skin | MP:0011205 | excessive folding of visceral yolk sac | the appearance of wrinkles or folds on the surface of the visceral yolk sac |
| HP:0001053 | Hypopigmented skin patches | MP:0004947 | skin inflammation | local accumulation of fluid, plasma proteins, and leukocytes in the skin |
| HP:0000327 | Hypoplasia of the maxilla | 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:0000077 | Abnormality of the kidney | MP:0011665 | d-loop transposition of the great arteries | complete transposition of the great arteries; the d- refers to the dextroposition of the bulboventricular loop (ie, the position of the right ventricle, which is on the right side); in addition, the aorta also tends to be on the right and anterior, and th |
| HP:0100006 | Neoplasm of the central nervous system | MP:0005387 | immune system phenotype | |
| HP:0000820 | Abnormality of the thyroid gland | 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:0000130 | Abnormality of the uterus | MP:0011665 | d-loop transposition of the great arteries | complete transposition of the great arteries; the d- refers to the dextroposition of the bulboventricular loop (ie, the position of the right ventricle, which is on the right side); in addition, the aorta also tends to be on the right and anterior, and th |
| HP:0006740 | Transitional cell carcinoma of the bladder | 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 |
Mapped by homologous gene(Total Items:73) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000836 | Hyperthyroidism | MP:0020169 | increased thyroid gland weight | higher than average weight of the thyroid gland |
| HP:0000327 | Hypoplasia of the maxilla | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002650 | Scoliosis | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0012062 | Bone cyst | 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:0001256 | Intellectual disability, mild | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0100579 | Mucosal telangiectasiae | 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:0002664 | Neoplasm | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0002516 | Increased intracranial pressure | MP:0020215 | impaired blood coagulation | impaired ability of the blood to clot |
| HP:0001250 | Seizures | 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: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:0000854 | Thyroid adenoma | 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:0000820 | Abnormality of the thyroid gland | MP:0020169 | increased thyroid gland weight | higher than average weight of the thyroid gland |
| HP:0000034 | Hydrocele testis | 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:0000995 | Melanocytic nevus | 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:0001482 | Subcutaneous nodule | MP:0013542 | abnormal submandibular gland branching morphogenesis | |
| HP:0002861 | Melanoma | 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:0002080 | Intention tremor | 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: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:0009720 | Adenoma sebaceum | MP:0013696 | increased granulocyte monocyte progenitor cell number | increase in the number of a hematopoietic progenitor cell that is committed to the granulocyte and monocyte lineages; these cells are CD123-positive, and do not express Gata1 or Gata2 but do express C/EBPa, and Pu.1 |
| HP:0000347 | Micrognathia | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0002253 | Colonic diverticula | 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: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: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:0001031 | Subcutaneous lipoma | 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:0000138 | Ovarian cyst | 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:0006731 | Follicular thyroid carcinoma | MP:0012080 | chylous ascites | the extravasation of milky triglyceride-rich chyle into the peritoneal cavity; often a secondary symptom of neoplasms |
| HP:0010609 | Skin tags | 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:0001508 | Failure to thrive | MP:0020234 | decreased basal metabolism | decrease in heat production of an organism at the lowest level of cell chemistry in an inactive, awake, and fasting state |
| 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:0012114 | Endometrial carcinoma | 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:0012871 | Varicocele | 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:0010619 | Fibroadenoma of the breast | 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:0100646 | Thyroiditis | 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:0000821 | Hypothyroidism | MP:0020169 | increased thyroid gland weight | higher than average weight of the thyroid gland |
| HP:0000158 | Macroglossia | MP:0020169 | increased thyroid gland weight | higher than average weight of the thyroid gland |
| HP:0000853 | Goiter | MP:0020169 | increased thyroid gland weight | higher than average weight of the thyroid gland |
| HP:0000077 | Abnormality of the kidney | MP:0013294 | prenatal lethality prior to heart atrial septation | death prior to the completion of heart atrial septation (Mus: E14.5-15.5) |
| HP:0001156 | Brachydactyly syndrome | MP:0020157 | abnormal behavioral response to alcohol | any anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior |
| HP:0007565 | Multiple cafe-au-lait spots | MP:0014040 | increased cellular sensitivity to DNA damaging agents | greater incidence of cell death following exposure to agents that cause DNA damage |
| HP:0001102 | Angioid streaks of the retina | 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:0001317 | Abnormality of the cerebellum | MP:0011971 | increased circulating lactate dehydrogenase level | elevated blood level of the tetrameric enzyme that, along with the coenzyme NAD+, catalyzes the interconversion of lactate and pyruvate; measurements of circulating levels are used clinically as a diagnostic indicator of tissue breakdown, some forms of ca |
| HP:0000036 | Abnormality of the penis | 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:0100780 | Conjunctival hamartoma | 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:0000767 | Pectus excavatum | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0100031 | Neoplasm of the thyroid gland | 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:0001263 | Global developmental delay | 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:0001053 | Hypopigmented skin patches | MP:0014164 | abnormal ciliary process morphology | any structural anomaly of any of the pigmented processes that radiate from the ciliary muscle and give attachments to ligaments supporting the lens of the eye; these processes increase in thickness as they advance from the orbiculus ciliaris to the exter |
| HP:0000160 | Narrow mouth | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| 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: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:0000365 | Hearing impairment | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0005374 | Cellular immunodeficiency | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0006740 | Transitional cell carcinoma of the bladder | 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:0012032 | Lipoma | 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:0001251 | Ataxia | MP:0020301 | short tongue | decreased length of the mobile mass of muscular tissue and surrounding epithelial tissue occupying the cavity of the mouth and forming part of the floor |
| HP:0000218 | High palate | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| 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:0000545 | Myopia | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0004390 | Hamartomatous polyposis | 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:0008069 | Neoplasm of the skin | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0000130 | Abnormality of the uterus | MP:0013508 | increased granulosa cell apoptosis | increase in the timing or the number of granulsa cells undergoing programmed cell death |
| HP:0005584 | Renal cell carcinoma | 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:0000256 | Macrocephaly | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0010614 | Fibroma | 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:0003002 | Breast carcinoma | 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:0002808 | Kyphosis | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0004481 | Progressive macrocephaly | 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:0000717 | Autism | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0100006 | Neoplasm of the central nervous system | MP:0014126 | increased mammary gland apoptosis | increase in the number of any cells of a mammary gland undergoing programmed cell death |
| HP:0001048 | Cavernous hemangioma | 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:0000771 | Gynecomastia | MP:0014198 | absent pituitary infundibular stalk | absence of the apical portion of the tubular structure extending from the hypothalamus to the posterior lobe of the pituitary gland |
| HP:0002858 | Meningioma | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| Disease ID | 16 |
|---|---|
| Disease | cowden syndrome |
| Case | (Waiting for update.) |