eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| acth-independent cushing syndrome | ||||
| Disease ID | 1302 |
|---|---|
| Disease | acth-independent cushing syndrome |
| Synonym | acth-independent macronodular adrenal hyperplasia acth-independent macronodular adrenocortical hyperplasia adrenocorticotropic hormone-independent macronodular adrenal hyperplasia aimah aimah1 corticotropin-independent macronodular adrenal hyperplasia cushing syndrome, adrenal, due to aimah |
| Orphanet | |
| OMIM | |
| UMLS | C1857451 |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:9) C0010481 | cushing's syndrome | 3 C0027662 | multiple endocrine neoplasia | 1 C0242292 | albright syndrome | 1 C0342494 | adrenocortical hyperplasia | 1 C0020428 | aldosteronism | 1 C1384514 | primary aldosteronism | 1 C0025267 | multiple endocrine neoplasia type 1 | 1 C0242292 | mccune-albright syndrome | 1 C0001622 | hypercortisolism | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | (Waiting for update.) |
| Disease ID | 1302 |
|---|---|
| Disease | acth-independent cushing syndrome |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:36) HP:0000938 | Decreased bone mineral density HP:0001061 | Acne HP:0000311 | Round facial shape HP:0002920 | Decreased circulating ACTH level HP:0001065 | Striae distensae HP:0000787 | Nephrolithiasis HP:0012378 | Fatigue HP:0001268 | Mental deterioration HP:0001579 | Primary hypercorticolism HP:0000978 | Bruising susceptibility HP:0400008 | Menometrorrhagia HP:0001065 | Purplish striae HP:0000963 | Thin skin HP:0002808 | Gibbus deformity HP:0008231 | Macronodular adrenal hyperplasia HP:0000822 | Hypertension HP:0000739 | Anxiety HP:0000978 | Bruisability HP:0000713 | Agitation HP:0002664 | Neoplasia HP:0002900 | Hypokalemia HP:0003202 | Neurogenic muscle atrophy, especially in the lower limbs HP:0008182 | Adrenocortical hypoplasia HP:0000939 | Osteoporosis HP:0000709 | Psychosis HP:0001508 | Failure to thrive HP:0002230 | Generalized hirsutism HP:0000311 | Round face HP:0001575 | Mood alterations HP:0000789 | Infertility HP:0001956 | Centripetal obesity HP:0001324 | Muscle weakness HP:0000819 | Diabetes mellitus HP:0001956 | Truncal obesity HP:0000716 | Depression HP:0008568 | Vestibular areflexia |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:3) |
| Disease ID | 1302 |
|---|---|
| Disease | acth-independent cushing syndrome |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:1) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:2) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs11554273 | NA | 2778 | GNAS | umls:C1857451 | CLINVAR | NA | 0.24 | NA | GNAS | 20 | 58909365 | C | A,G,T |
| rs121913495 | NA | 2778 | GNAS | umls:C1857451 | CLINVAR | NA | 0.24 | NA | GNAS | 20 | 58909366 | G | A,T |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:8) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0002920 | Decreased circulating ACTH level | MP:0011549 | increased urine corticosterone level | an increased amount of corticosterone in the urine compared to the normal state |
| 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:0000311 | Round face | MP:0012546 | triangular face | a face whose lower half becomes relatively thin, approaching an appearance of a triangle with a tip facing downwards; usually associated with a prominent forehead and micrognathia |
| HP:0003202 | Skeletal muscle atrophy | MP:0014068 | abnormal muscle glycogen level | the normal concentration of a readily converted carbohydrate reserve in muscle tissue |
| 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:0001324 | Muscle weakness | MP:0000746 | weakness | state of being infirm or less strong than normal |
| 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:0001956 | Truncal obesity | MP:0005659 | decreased susceptibility to diet-induced obesity | less likely to become excessively overweight or to increase fat in the subcutaneous connective tissue as a result of consuming a diet geared to increase body fat |
Mapped by homologous gene(Total Items:30) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000739 | Anxiety | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0002664 | Neoplasm | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0000789 | Infertility | 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:0003202 | Skeletal muscle atrophy | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0001061 | Acne | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0008568 | Vestibular areflexia | MP:0014091 | abnormal tectorial membrane striated-sheet matrix morphology | any structural anomaly of the laminated, striated-sheet matrix within which collagen fibrils of the TM are imbedded; the striated sheet matrix is formed by two types of fine-diameter collagen filaments, a light and a dark staining type that lie in paralle |
| HP:0002900 | Hypokalemia | MP:0014206 | decreased intestinal epithelial sodium ion transmembrane transport | |
| HP:0002920 | Decreased circulating ACTH level | MP:0014167 | ectopic bone | the appearance of an extra bone structure at an atypical location |
| 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:0001268 | Mental deterioration | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0001579 | Primary hypercorticolism | MP:0014167 | ectopic bone | the appearance of an extra bone structure at an atypical location |
| HP:0000819 | Diabetes mellitus | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000939 | Osteoporosis | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000938 | Osteopenia | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0008231 | Macronodular adrenal hyperplasia | MP:0014167 | ectopic bone | the appearance of an extra bone structure at an atypical location |
| HP:0001324 | Muscle weakness | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0012378 | Fatigue | MP:0013659 | abnormal erythroid lineage cell morphology | any structural anomaly of an immature or mature cell in the lineage leading to and including erythrocytes |
| HP:0002230 | Generalized hirsutism | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001065 | Striae distensae | 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:0000963 | Thin skin | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000709 | Psychosis | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0000787 | Nephrolithiasis | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0001956 | Truncal obesity | MP:0014169 | decreased brown adipose tissue mass | decreased physical bulk or volume of brown adipose tissue |
| HP:0000713 | Agitation | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0000311 | Round face | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0001575 | Mood changes | MP:0014167 | ectopic bone | the appearance of an extra bone structure at an atypical location |
| HP:0000716 | Depression | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0002808 | Kyphosis | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000822 | Hypertension | MP:0020216 | decreased circulating complement protein level | less than normal levels of the serum proteins that act sequentially to allow for the direct killing of microbes, the disposal of immune complexes, and the regulation of other immune processes |
| Disease ID | 1302 |
|---|---|
| Disease | acth-independent cushing syndrome |
| Case | (Waiting for update.) |