eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| nelson syndrome | ||||
| Disease ID | 558 |
|---|---|
| Disease | nelson syndrome |
| Definition | A syndrome characterized by HYPERPIGMENTATION, enlarging pituitary mass, visual defects secondary to compression of the OPTIC CHIASM, and elevated serum ACTH. It is caused by the expansion of an underlying ACTH-SECRETING PITUITARY ADENOMA that grows in the absence of feedback inhibition by adrenal CORTICOSTEROIDS, usually after ADRENALECTOMY. |
| Synonym | nelson syndrome (disorder) nelson syndrome [disease/finding] nelson's syndrome nelson's syndrome (disorder) nelsons syndrome |
| Orphanet | |
| DOID | |
| ICD10 | |
| UMLS | C0027577 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:3) |
| Curated Gene | (Waiting for update.) |
| Inferring Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:13) 116 | ADCYAP1 | 1.018 | DISEASES 551 | AVP | 1.378 | DISEASES 10871 | CD300C | 2.054 | DISEASES 2778 | GNAS | 1.351 | DISEASES 4158 | MC2R | 1.572 | DISEASES 9968 | MED12 | 1.344 | DISEASES 4439 | MSH5 | 2.147 | DISEASES 25821 | MTO1 | 2.162 | DISEASES 5063 | PAK3 | 2.982 | DISEASES 5362 | PLXNA2 | 2.192 | DISEASES 9232 | PTTG1 | 1.23 | DISEASES 6635 | SNRPE | 1.782 | DISEASES 6752 | SSTR2 | 1.048 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 558 |
|---|---|
| Disease | nelson syndrome |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:27) HP:0001065 | Striae distensae HP:0030591 | Abnormal kinetic perimetry test HP:0010788 | Testicular neoplasm HP:0000873 | Diabetes insipidus HP:0011744 | Secondary hypercorticolism HP:0200026 | Ocular pain HP:0012030 | Increased urinary cortisol level HP:0007340 | Lower limb muscle weakness HP:0000822 | Hypertension HP:0002516 | Increased intracranial pressure HP:0012246 | Oculomotor nerve palsy HP:0008291 | Pituitary corticotropic cell adenoma HP:0005978 | Type II diabetes mellitus HP:0002900 | Hypokalemia HP:0011763 | Pituitary carcinoma HP:0011749 | Adrenocorticotropic hormone excess HP:0000830 | Anterior hypopituitarism HP:0430022 | Abnormality of the sphenoid sinus HP:0003118 | Increased circulating cortisol level HP:0009050 | Quadriceps muscle atrophy HP:0000870 | Prolactin excess HP:0007807 | Optic nerve compression HP:0000505 | Visual impairment HP:0007924 | Slow decrease in visual acuity HP:0002170 | Intracranial hemorrhage HP:0007440 | Generalized hyperpigmentation HP:0030521 | Bitemporal hemianopia |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:3) |
| Disease ID | 558 |
|---|---|
| Disease | nelson syndrome |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:1) C0039590 | testicular tumors |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:2) |
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) | |
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| (Waiting for update.) | |
Mapped by lexical matching(Total Items:10) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000830 | Anterior hypopituitarism | MP:0003348 | hypopituitarism | reduction or cessation of secretion of one or more hormones from the anterior pituitary gland; this may result from ablation, tumors, infarction, or other trauma |
| HP:0011749 | Adrenocorticotropic hormone excess | MP:0005418 | abnormal circulating hormone level | any anomaly in the blood concentration of any of the chemical substances that have specific regulatory effects on the activity of a certain organ or organs; originally applied to substances secreted by various endocrine glands and transported in the blood |
| HP:0007924 | Slow decrease in visual acuity | MP:0010748 | abnormal visual evoked potential | anomaly in the electroencephalographic pattern recorded from the occipital area generated in response to retinal stimulation such as flashing lights or inverting a contrasting image; may be used to evaluate optic nerve damage or visual perception |
| HP:0200026 | Ocular pain | MP:0001970 | abnormal pain threshold | increased or decreased average level of perception of pain |
| HP:0002170 | Intracranial hemorrhage | MP:0006203 | eye hemorrhage | bleeding into the eye |
| HP:0012030 | Increased urinary cortisol level | MP:0009355 | increased liver triglyceride level | greater concentration of naturally occurring esters of three fatty acids and glycerol in the liver; triglycerides are widespread in adipose tissue, commonly circulate in the blood in the form of lipoproteins, and are involved in the process of bidirection |
| HP:0003118 | Increased circulating cortisol level | MP:0011549 | increased urine corticosterone level | an increased amount of corticosterone in the urine compared to the normal state |
| HP:0007440 | Generalized hyperpigmentation | MP:0001188 | hyperpigmentation | excess of pigment in any or all tissues or a part of a tissue |
| HP:0007340 | Lower limb muscle weakness | MP:0000748 | progressive muscle weakness | increasing loss of muscle strength over time |
| HP:0005978 | Type II diabetes mellitus | MP:0004803 | increased susceptibility to autoimmune diabetes | greater likelihood that an organism will develop inflammatory pancreatic disease resulting from the body attacking and destroying the insulin-producing beta islet cells of the pancreas |
Mapped by homologous gene(Total Items:20) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0200026 | Ocular pain | MP:0011089 | perinatal lethality, complete penetrance | death of all organisms of a given genotype in a population within the perinatal period (Mus: E18.5 through postnatal day 1) |
| HP:0007340 | Lower limb muscle weakness | MP:0020187 | altered susceptibility to prion infection | altered likelihood that an organism will develop ill effects from the small proteinaceous infectious particles which are resistant to inactivation by procedures that modify nucleic acids and which contain an abnormal isoform of a cellular protein that is |
| HP:0000873 | Diabetes insipidus | 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: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:0012246 | Oculomotor nerve palsy | MP:0011967 | increased or absent threshold for auditory brainstem response | increase in the value at which one or more sound frequencies or broadband clicks first elicits a recordable response generated by electrical activity of neurons in the ascending auditory system, or complete lack of a recordable response at any frequency o |
| HP:0002900 | Hypokalemia | MP:0014206 | decreased intestinal epithelial sodium ion transmembrane transport | |
| HP:0011749 | Adrenocorticotropic hormone excess | MP:0011088 | neonatal lethality, incomplete penetrance | the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms within the neonatal period after birth (Mus: P0) |
| HP:0007924 | Slow decrease in visual acuity | MP:0012671 | retinal spots | the appearance of roundish lesions on the retina, frequently white, and may be due to inflammation, degeneration, vasculitis, exudates, edema or mineral deposits |
| HP:0012030 | Increased urinary cortisol level | MP:0011090 | perinatal lethality, incomplete penetrance | the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms within the perinatal period (Mus: E18.5 through postnatal day 1) |
| HP:0002516 | Increased intracranial pressure | MP:0020215 | impaired blood coagulation | impaired ability of the blood to clot |
| HP:0000870 | Prolactin excess | MP:0014167 | ectopic bone | the appearance of an extra bone structure at an atypical location |
| 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:0003118 | Increased circulating cortisol level | MP:0014167 | ectopic bone | the appearance of an extra bone structure at an atypical location |
| HP:0007807 | Optic nerve compression | MP:0013467 | diaphragmitis | inflammation of the diaphragm |
| 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:0002170 | Intracranial hemorrhage | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0005978 | Type II diabetes mellitus | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0007440 | Generalized hyperpigmentation | MP:0014167 | ectopic bone | the appearance of an extra bone structure at an atypical location |
| HP:0000830 | Anterior hypopituitarism | 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: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 | 558 |
|---|---|
| Disease | nelson syndrome |
| Case | (Waiting for update.) |