eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| primary pigmented nodular adrenocortical disease | ||||
| Disease ID | 1047 |
|---|---|
| Disease | primary pigmented nodular adrenocortical disease |
| Definition | Primary pigmented nodular adrenocortical disease (PPNAD) is a form of bilateral adrenocortical hyperplasia that is often associated with adrenocorticotrophin hormone independent Cushing syndrome. The disease has characteristics of small to normal sized adrenal glands containing multiple small cortical pigmented nodules. A substantial proportion of patients present during early childhood (2-3 years). More than 90% of reported cases of PPNAD occur as one of the manifestations of Carney complex. The condition is inherited in an autosomal dominant manner and can be associated with mutations in the PRKAR1A, PDE11A and PDE8B genes. |
| Synonym | primary pigmented nodular adrenocortical disease (disorder) |
| Orphanet | |
| DOID | |
| UMLS | C4304832 |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:3) C0010481 | cushing syndrome | 4 C0010481 | cushing's syndrome | 3 C0206667 | adrenocortical 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:21) 64746 | ACBD3 | 3.508 | DISEASES 1385 | CREB1 | 1.261 | DISEASES 1499 | CTNNB1 | 1.661 | DISEASES 1586 | CYP17A1 | 2.337 | DISEASES 1589 | CYP21A2 | 1.042 | DISEASES 1718 | DHCR24 | 1.833 | DISEASES 2159 | F10 | 2.647 | DISEASES 2778 | GNAS | 3.219 | DISEASES 3283 | HSD3B1 | 3.176 | DISEASES 3481 | IGF2 | 1.517 | DISEASES 4158 | MC2R | 1.893 | DISEASES 4221 | MEN1 | 1.865 | DISEASES 2315 | MLANA | 1.647 | DISEASES 4496 | MT1H | 2.699 | DISEASES 4929 | NR4A2 | 1.334 | DISEASES 5573 | PRKAR1A | 7.329 | DISEASES 5575 | PRKAR1B | 4.389 | DISEASES 6390 | SDHB | 1.017 | DISEASES 6391 | SDHC | 1.191 | DISEASES 6392 | SDHD | 2.038 | DISEASES 706 | TSPO | 1.101 | DISEASES |
| Locus | Symbol | Locus(Total Locus:4) |
| Disease ID | 1047 |
|---|---|
| Disease | primary pigmented nodular adrenocortical disease |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:15) HP:0000963 | Thin skin HP:0001580 | Pigmented micronodular adrenocortical disease HP:0008221 | Adrenal hyperplasia HP:0001065 | Striae distensae HP:0001324 | Muscle weakness HP:0012378 | Fatigue HP:0004322 | Short stature HP:0000819 | Diabetes mellitus HP:0000939 | Osteoporosis HP:0000822 | Hypertension HP:0002659 | Increased susceptibility to fractures HP:0001533 | Slender build HP:0003198 | Myopathy HP:0003202 | Skeletal muscle atrophy HP:0000135 | Hypogonadism |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:3) |
| Disease ID | 1047 |
|---|---|
| Disease | primary pigmented nodular adrenocortical disease |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
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| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
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| (Waiting for update.) | |
All Snps(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:5) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001324 | Muscle weakness | MP:0000746 | weakness | state of being infirm or less strong than normal |
| 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:0002659 | Increased susceptibility to fractures | MP:0009788 | increased susceptibility to bacterial infection induced morbidity/mortality | increased likelihood that an organism will display the expected moribund state caused by a bacterial invasion or from components of or toxins produced by bacteria |
| HP:0008221 | Adrenal hyperplasia | MP:0009092 | endometrium hyperplasia | overdevelopment or increased size, usually due an increased number of cells, of the glandular mucous membrane lining of the uterine cavity that is hormonally responsive during the estrous/menstrual cycle and during pregnancy |
| HP:0003202 | Skeletal muscle atrophy | MP:0014068 | abnormal muscle glycogen level | the normal concentration of a readily converted carbohydrate reserve in muscle tissue |
Mapped by homologous gene(Total Items:15) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| 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: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 |
| HP:0002659 | Increased susceptibility to fractures | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0003198 | Myopathy | MP:0020280 | increased creatine kinase level | increased level of the enzyme that catalyzes the reversible transfer of creatine to phosphocreatine |
| 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: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: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:0001580 | Pigmented micronodular adrenocortical disease | MP:0012498 | abnormal cardiogenic plate morphology | any structural anomaly of the splanchnic mesodermal thickening which forms cranial and lateral to the developing neural plate; angiogenic cell clusters (aka angioblastic cords) located in a horse-shoe shape configuration in the cardiogenic plate coalesce |
| 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:0008221 | Adrenal hyperplasia | MP:0012498 | abnormal cardiogenic plate morphology | any structural anomaly of the splanchnic mesodermal thickening which forms cranial and lateral to the developing neural plate; angiogenic cell clusters (aka angioblastic cords) located in a horse-shoe shape configuration in the cardiogenic plate coalesce |
| HP:0000135 | Hypogonadism | 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:0001533 | Slender build | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| Disease ID | 1047 |
|---|---|
| Disease | primary pigmented nodular adrenocortical disease |
| Case | (Waiting for update.) |