PedAM

Pediatric Disease Annotations & Medicines


	nelson syndrome

Disease ID	331
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	ORPHANET:199244
DOID	DOID:4968
ICD10	ICD10CM:E24.1
UMLS	C0027577
MeSH	D009347
SNOMED-CT	SNOMEDCT_US_2016_09_01:43019009
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:2) C0032000 \| pituitary adenoma \| 1 C0032000 \| pituitary adenomas \| 1
Curated Gene	(Waiting for update.)
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) 2908 \| NR3C1 \| infer
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:29) 84245 \| MRI1 \| DISEASES 6655 \| SOS2 \| DISEASES 5173 \| PDYN \| DISEASES 5020 \| OXT \| DISEASES 2908 \| NR3C1 \| DISEASES 3630 \| INS \| DISEASES 10542 \| LAMTOR5 \| DISEASES 2230 \| FDX1 \| DISEASES 3249 \| HPN \| DISEASES 5443 \| POMC \| DISEASES 1392 \| CRH \| DISEASES 6750 \| SST \| DISEASES 6755 \| SSTR5 \| DISEASES 5617 \| PRL \| DISEASES 7200 \| TRH \| DISEASES 1831 \| TSC22D3 \| DISEASES 10871 \| CD300C \| DISEASES 4158 \| MC2R \| DISEASES 9232 \| PTTG1 \| DISEASES 6752 \| SSTR2 \| DISEASES 5063 \| PAK3 \| DISEASES 5362 \| PLXNA2 \| DISEASES 2778 \| GNAS \| DISEASES 9968 \| MED12 \| DISEASES 4439 \| MSH5 \| DISEASES 551 \| AVP \| DISEASES 6635 \| SNRPE \| DISEASES 25821 \| MTO1 \| DISEASES 116 \| ADCYAP1 \| DISEASES
Locus	(Waiting for update.)

Disease ID	331
Disease	nelson syndrome
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:27) HP:0000830 \| Anterior hypopituitarism HP:0011763 \| Pituitary carcinoma HP:0011749 \| Adrenocorticotropic hormone excess HP:0030591 \| Abnormal kinetic perimetry test HP:0011744 \| Secondary hypercorticolism HP:0012030 \| Increased urinary cortisol level HP:0008291 \| Pituitary corticotropic cell adenoma HP:0000822 \| Hypertension HP:0000873 \| Diabetes insipidus HP:0003118 \| Increased circulating cortisol level HP:0007924 \| Slow decrease in visual acuity HP:0000505 \| Visual impairment HP:0007807 \| Optic nerve compression HP:0009050 \| Quadriceps muscle atrophy HP:0012246 \| Oculomotor nerve palsy HP:0430022 \| Abnormality of the sphenoid sinus HP:0002900 \| Hypokalemia HP:0005978 \| Type II diabetes mellitus HP:0007340 \| Lower limb muscle weakness HP:0001065 \| Striae distensae HP:0030521 \| Bitemporal hemianopia HP:0200026 \| Ocular pain HP:0002516 \| Increased intracranial pressure HP:0010788 \| Testicular neoplasm HP:0000870 \| Prolactin excess HP:0002170 \| Intracranial hemorrhage HP:0007440 \| Generalized hyperpigmentation
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:3) HP:0007440 \| Generalized hyperpigmentation \| 1 HP:0000953 \| Hyperpigmentation of the skin \| 1 HP:0002893 \| Pituitary adenoma \| 1

Disease ID	331
Disease	nelson syndrome
Manually Symptom	UMLS \| Name(Total Manually Symptoms:1) C0039590 \| testicular tumors
Text Mined Symptom	(Waiting for update.)

Manually Genotype(Total Text Mining Genotypes:0)
(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:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Chemical(Total Drugs:1)
CUI	ChemicalName	ChemicalID	CasRN	DiseaseName	DiseaseID	DirectEvidence	PubMedIDs
C0027577	cyproheptadine	D003533	129-03-3	nelson syndrome	MESH:D009347	therapeutic	6243392

FDA approved drug and dosage information(Total Drugs:0)
(Waiting for update.)

FDA labeling changes(Total Drugs:0)
(Waiting for update.)

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