eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| mccune-albright syndrome | ||||
| Disease ID | 609 |
|---|---|
| Disease | mccune-albright syndrome |
| Definition | A syndrome characterized by the presence of polyostotic fibrous dysplasia, cafe-au-lait skin lesions, and sexual precocity. It is caused by mutations within the GNAS genetic locus. |
| Synonym | albright disease albright syndrome albright's disease albright's disease bone albright's disease of bone albright's syndrome albright's syndrome with precocious puberty albright-mccune-sternberg syndrome albright-sternberg syndrome albrights mccune syndrome albrights syndrome fibrous dysplasia with pigmentary skin changes and precocious puberty mas - mccune-albright syndrome mccune albright syndrome mccune-albright syndrome (disorder) syndrome, albright syndrome, albright's syndrome, mccune-albright |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C0242292 |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:20) C0259779 | fibrous dysplasia | 10 C0034013 | precocious puberty | 3 C0029132 | optic neuropathy | 2 C0442874 | neuropathy | 2 C0006142 | breast cancer | 1 C0023343 | hansen's disease | 1 C0151468 | thyroid adenoma | 1 C0029927 | ovarian cyst | 1 C0011849 | diabetes mellitus | 1 C0001206 | acromegaly | 1 C1621895 | adrenal hyperplasia | 1 C0018801 | cardiac failure | 1 C0029442 | osteomalacia | 1 C0001622 | hypercortisolism | 1 C0154208 | ovarian dysfunction | 1 C0011847 | diabetes | 1 C0001430 | adenoma | 1 C0032000 | pituitary adenomas | 1 C0016063 | fibrous dysplasia of bone | 1 C0032000 | pituitary adenoma | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:43) 632 | BGLAP | 2.441 | DISEASES 796 | CALCA | 2.516 | DISEASES 64084 | CLSTN2 | 1.941 | DISEASES 10491 | CRTAP | 1.921 | DISEASES 1825 | DSC3 | 2.218 | DISEASES 5167 | ENPP1 | 1.05 | DISEASES 2159 | F10 | 2.18 | DISEASES 2253 | FGF8 | 1.113 | DISEASES 2261 | FGFR3 | 1.113 | DISEASES 2492 | FSHR | 2.193 | DISEASES 2591 | GALNT3 | 1.808 | DISEASES 2633 | GBP1 | 1.869 | DISEASES 2778 | GNAS | 7.262 | DISEASES 23560 | GTPBP4 | 2.142 | DISEASES 3486 | IGFBP3 | 1.263 | DISEASES 259307 | IL4I1 | 1.442 | DISEASES 10984 | KCNQ1OT1 | 1.462 | DISEASES 3814 | KISS1 | 1.846 | DISEASES 7044 | LEFTY2 | 2.037 | DISEASES 100885779 | LINC-ROR | 1.088 | DISEASES 4014 | LOR | 1.197 | DISEASES 116372 | LYPD1 | 2.274 | DISEASES 4158 | MC2R | 1.426 | DISEASES 4221 | MEN1 | 4.003 | DISEASES 56955 | MEPE | 1.556 | DISEASES 4487 | MSX1 | 1.234 | DISEASES 23218 | NBEAL2 | 1.512 | DISEASES 284565 | NBPF15 | 4.134 | DISEASES 4763 | NF1 | 1.499 | DISEASES 5251 | PHEX | 2.181 | DISEASES 6992 | PPP1R11 | 3.291 | DISEASES 5573 | PRKAR1A | 4.813 | DISEASES 5745 | PTH1R | 2.512 | DISEASES 5744 | PTHLH | 1.471 | DISEASES 9232 | PTTG1 | 1.084 | DISEASES 860 | RUNX2 | 1.662 | DISEASES 6424 | SFRP4 | 1.365 | DISEASES 6569 | SLC34A1 | 1.817 | DISEASES 142680 | SLC34A3 | 1.618 | DISEASES 6794 | STK11 | 1.199 | DISEASES 3925 | STMN1 | 1.708 | DISEASES 7225 | TRPC6 | 2.82 | DISEASES 157680 | VPS13B | 1.359 | DISEASES |
| Locus | Symbol | Locus(Total Locus:1) GNAS | 20q13.32 |
| Disease ID | 609 |
|---|---|
| Disease | mccune-albright syndrome |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:35) HP:0000670 | Carious teeth HP:0000843 | Hyperparathyroidism HP:0000682 | Abnormality of dental enamel HP:0000826 | Precocious puberty HP:0002653 | Bone pain HP:0010788 | Testicular neoplasm HP:0000098 | Tall stature HP:0002652 | Skeletal dysplasia HP:0000303 | Mandibular prognathia HP:0100013 | Neoplasm of the breast HP:0003010 | Prolonged bleeding time HP:0000164 | Abnormality of the teeth HP:0000040 | Long penis HP:0000147 | Polycystic ovaries HP:0000271 | Abnormality of the face HP:0000478 | Abnormality of the eye HP:0100031 | Neoplasm of the thyroid gland HP:0000256 | Macrocephaly HP:0002757 | Recurrent fractures HP:0100242 | Sarcoma HP:0002808 | Kyphosis HP:0000648 | Optic atrophy HP:0001578 | Hypercortisolism HP:0000053 | Macroorchidism HP:0000853 | Goiter HP:0002910 | Elevated hepatic transaminases HP:0000504 | Abnormality of vision HP:0010807 | Open bite HP:0000364 | Hearing abnormality HP:0000174 | Abnormality of the palate HP:0004349 | Reduced bone mineral density HP:0007565 | Multiple cafe-au-lait spots HP:0007440 | Generalized hyperpigmentation HP:0002148 | Hypophosphatemia HP:0000836 | Hyperthyroidism |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:17) HP:0000826 | Precocious puberty | 4 HP:0001138 | Damaged optic nerve | 2 HP:0010735 | Polyostotic fibrous dysplasia | 2 HP:0000854 | Thyroid adenoma | 1 HP:0001578 | Hypercortisolism | 1 HP:0000053 | Macroorchidism | 1 HP:0008221 | Enlarged adrenal glands | 1 HP:0002893 | Pituitary adenoma | 1 HP:0000845 | Acromegalic growth | 1 HP:0001635 | Congestive heart failure | 1 HP:0000256 | Macrocrania | 1 HP:0008231 | Macronodular adrenal hyperplasia | 1 HP:0000819 | Diabetes mellitus | 1 HP:0000138 | Ovarian cyst | 1 HP:0003002 | Breast carcinoma | 1 HP:0002749 | Osteomalacia | 1 HP:0002664 | Neoplasia | 1 |
| Disease ID | 609 |
|---|---|
| Disease | mccune-albright syndrome |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:28) C2700478 | meningioma C2697383 | osteosarcoma C2186538 | thyroid disease C0422943 | visual symptoms C0342134 | t3 toxicosis C0302332 | toxicosis C0259779 | fibrous dysplasia of bone C0259779 | fibrous dysplasia C0206682 | follicular carcinoma of the thyroid C0154208 | ovarian dysfunction C0152244 | aneurysmal bone cyst C0042900 | vitiligo C0037285 | skin manifestations C0037284 | skin lesions C0034013 | sexual precocity C0034013 | pubertas praecox C0034013 | precocious puberty C0032000 | pituitary adenoma C0029132 | optic neuropathy C0020550 | hyperthyroidism C0020514 | hyperprolactinemia C0020502 | hyperparathyroidism C0016065 | polyostotic fibrous dysplasia C0016063 | bone fibrous dysplasia C0010481 | cushing syndrome C0008479 | chondrosarcoma C0008370 | cholestasis C0001206 | acromegaly |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:7) C0259779 | fibrous dysplasia | 10 C0034013 | precocious puberty | 3 C0029132 | optic neuropathy | 2 C0032000 | pituitary adenoma | 1 C0016065 | polyostotic fibrous dysplasia | 1 C0001206 | acromegaly | 1 C0154208 | ovarian dysfunction | 1 |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:7) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs11554273 | NA | 2778 | GNAS | umls:C0242292 | CLINVAR | NA | 0.370586233 | NA | GNAS | 20 | 58909365 | C | A,G,T |
| rs11554273 | 1944469 | 2778 | GNAS | umls:C0242292 | UNIPROT | Activating mutations of the stimulatory G protein in the McCune-Albright syndrome. | 0.370586233 | 1991 | GNAS | 20 | 58909365 | C | A,G,T |
| rs121913494 | NA | 2778 | GNAS | umls:C0242292 | CLINVAR | NA | 0.370586233 | NA | GNAS | 20 | 58909541 | A | G,T |
| rs121913495 | NA | 2778 | GNAS | umls:C0242292 | CLINVAR | NA | 0.370586233 | NA | GNAS | 20 | 58909366 | G | A,T |
| rs121913495 | 17101633 | 2778 | GNAS | umls:C0242292 | BeFree | Unexpected mosaicism of R201H-GNAS1 mutant-bearing cells in the testes underlie macro-orchidism without sexual precocity in McCune-Albright syndrome. | 0.370586233 | 2006 | GNAS | 20 | 58909366 | G | A,T |
| rs137854533 | NA | 2778 | GNAS | umls:C0242292 | CLINVAR | NA | 0.370586233 | NA | GNAS | 20 | 58909542 | G | C,T |
| rs797045203 | NA | 2778 | GNAS | umls:C0242292 | CLINVAR | NA | 0.370586233 | NA | GNAS | 20 | 58909540 | 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:16) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000670 | Carious teeth | MP:0004033 | supernumerary teeth | occurrence of more than the usual number of teeth |
| HP:0002910 | Elevated hepatic transaminases | MP:0002628 | hepatic steatosis | an accumulation of fat deposits in the liver |
| HP:0000174 | Abnormality of the palate | MP:0010701 | fusion of atlas and odontoid process | the large protuberance that projects upward from the cervical axis (C2), around which the cervical atlas normally rotates, is instead fused to elements of the atlas; the odontoid process may or may not remain attached to the axis |
| HP:0007440 | Generalized hyperpigmentation | MP:0001188 | hyperpigmentation | excess of pigment in any or all tissues or a part of a tissue |
| HP:0100013 | Neoplasm of the breast | MP:0011205 | excessive folding of visceral yolk sac | the appearance of wrinkles or folds on the surface of the visceral yolk sac |
| HP:0000478 | Abnormality of the eye | 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:0000648 | Optic atrophy | MP:0012506 | brain atrophy | acquired diminution of the size of the brain associated with wasting as from death and reabsorbtion of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal chan |
| HP:0002757 | Recurrent fractures | MP:0004675 | rib fractures | a crack or break in the bones forming the bony wall of the chest |
| HP:0000504 | Abnormality of vision | MP:0012528 | abnormal zone of polarizing activity morphology | any structural anomaly of the subset of cells found in the posterior mesenchyme region of the vertebrate limb bud; Sonic hedgehog (Shh) produced by ZPA represents the key mediator of the polarizing activity that regulates patterning of the limb along the |
| 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:0003010 | Prolonged bleeding time | MP:0005606 | increased bleeding time | greater than the normal duration of blood flow after skin puncture; indicative of platelet and capillary function |
| HP:0004349 | Reduced bone mineral density | MP:0013630 | increased bone trabecular spacing | increase in the amount of space between trabeculae in cancellous bone |
| 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:0000040 | Long penis | MP:0005188 | small penis | reduced size of the organ of copulation and urination in the male |
| HP:0000271 | Abnormality of the face | MP:0009889 | persistence of medial edge epithelium during palatal shelf fusion | palatal shelves meet at the midline during development but do not adhere along the medial edge epithelia, and fail to form the midline epithelial seam |
| 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 |
Mapped by homologous gene(Total Items:35) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001578 | Hypercortisolism | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0000836 | Hyperthyroidism | MP:0020169 | increased thyroid gland weight | higher than average weight of the thyroid gland |
| HP:0002653 | Bone pain | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| 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:0000303 | Mandibular prognathia | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| 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:0000174 | Abnormality of the palate | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000682 | Abnormality of dental enamel | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000364 | Hearing abnormality | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000271 | Abnormality of the face | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0003010 | Prolonged bleeding time | MP:0020215 | impaired blood coagulation | impaired ability of the blood to clot |
| HP:0010788 | Testicular neoplasm | MP:0013604 | abnormal adult Leydig cell differentiation | atypical formation of or inability to produce the second or adult population of Leydig cells (ALCs) between birth and puberty; ALCs arise in the interstitium of adult testes from unknown progenitor cells and become the major source of androgens that contr |
| HP:0000853 | Goiter | MP:0020169 | increased thyroid gland weight | higher than average weight of the thyroid gland |
| HP:0000670 | Carious teeth | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| 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:0000843 | Hyperparathyroidism | MP:0014167 | ectopic bone | the appearance of an extra bone structure at an atypical location |
| HP:0002757 | Recurrent fractures | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| 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:0002910 | Elevated hepatic transaminases | 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:0002148 | Hypophosphatemia | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000826 | Precocious puberty | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0010807 | Open bite | 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:0100242 | Sarcoma | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0007440 | Generalized hyperpigmentation | MP:0014167 | ectopic bone | the appearance of an extra bone structure at an atypical location |
| HP:0002652 | Skeletal dysplasia | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000053 | Macroorchidism | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0000147 | Polycystic ovaries | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000504 | Abnormality of vision | MP:0013545 | cleft hard palate | cleft in the anterior portion of the palate consisting of bone and mucous membranes; the hard palate is formed from bony processes of the maxilla, premaxilla and palatine bones |
| HP:0000478 | Abnormality of the eye | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000256 | Macrocephaly | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0004349 | Reduced bone mineral density | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0002808 | Kyphosis | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0100013 | Neoplasm 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:0000648 | Optic atrophy | 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:0000040 | Long penis | MP:0014193 | decreased epididymal cell proliferation | decrease in the expansion rate of any epididymal cell population by cell division |
| Disease ID | 609 |
|---|---|
| Disease | mccune-albright syndrome |
| Case | (Waiting for update.) |