eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| panhypopituitarism | ||||
| Disease ID | 426 |
|---|---|
| Disease | panhypopituitarism |
| Definition | Insufficient production of all the anterior pituitary hormones. |
| Synonym | combined pituitary hormone deficiency complete hypopituitarism deficient secretion of all pituitary hormones panhypopituitarism (disorder) panhypopituitarism nos panhypopituitarism nos (disorder) panhypopituitarism, nos primary hypopituitarism |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C0242343 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:19) C0011848 | diabetes insipidus | 5 C0011847 | diabetes | 3 C0242342 | sheehan syndrome | 2 C1565489 | renal insufficiency | 1 C0242342 | sheehan's syndrome | 1 C0405580 | hypoadrenocorticism | 1 C0020635 | hypopituitarism | 1 C0687720 | central diabetes insipidus | 1 C0018916 | hemangiomas | 1 C0032001 | pituitary apoplexy | 1 C0001623 | adrenal insufficiency | 1 C0023418 | leukemia | 1 C0020676 | hypothyroid | 1 C0023467 | acute myeloid leukemia | 1 C0020514 | hyperprolactinaemia | 1 C0042769 | virus infection | 1 C0020514 | hyperprolactinemia | 1 C0010481 | cushing's syndrome | 1 C0023470 | myeloid leukemia | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:9) |
| Inferring Gene | Entrez_id | Symbol | Resource(Total Genes:2) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:33) 6833 | ABCC8 | 1.274 | DISEASES 146 | ADRA1D | 1.871 | DISEASES 551 | AVP | 4.395 | DISEASES 632 | BGLAP | 1.021 | DISEASES 796 | CALCA | 1.23 | DISEASES 51244 | CCDC174 | 3.404 | DISEASES 80712 | ESX1 | 4.394 | DISEASES 2253 | FGF8 | 1.049 | DISEASES 2274 | FHL2 | 1.394 | DISEASES 2641 | GCG | 1.49 | DISEASES 2736 | GLI2 | 2.918 | DISEASES 2737 | GLI3 | 1.558 | DISEASES 3481 | IGF2 | 1.472 | DISEASES 3486 | IGFBP3 | 3.173 | DISEASES 3547 | IGSF1 | 2.23 | DISEASES 3664 | IRF6 | 2.066 | DISEASES 7044 | LEFTY2 | 1.973 | DISEASES 8022 | LHX3 | 3.165 | DISEASES 4158 | MC2R | 1.451 | DISEASES 4791 | NFKB2 | 1.198 | DISEASES 5015 | OTX2 | 1.71 | DISEASES 5080 | PAX6 | 1.947 | DISEASES 10687 | PNMA2 | 2.006 | DISEASES 5449 | POU1F1 | 3.164 | DISEASES 5618 | PRLR | 2.046 | DISEASES 7737 | RNF113A | 3.766 | DISEASES 4990 | SIX6 | 1.739 | DISEASES 6566 | SLC16A1 | 2.22 | DISEASES 6657 | SOX2 | 1.006 | DISEASES 6658 | SOX3 | 4.151 | DISEASES 9095 | TBX19 | 2.038 | DISEASES 7436 | VLDLR | 1.161 | DISEASES 7546 | ZIC2 | 1.809 | DISEASES |
| Locus | Symbol | Locus(Total Locus:2) |
| Disease ID | 426 |
|---|---|
| Disease | panhypopituitarism |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:27) HP:0000044 | Hypogonadotrophic hypogonadism HP:0002920 | Decreased circulating ACTH level HP:0012378 | Fatigue HP:0004322 | Short stature HP:0002019 | Constipation HP:0008734 | Decreased testicular size HP:0000824 | Growth hormone deficiency HP:0012731 | Ectopic anterior pituitary gland HP:0040086 | Abnormal prolactin level HP:0011755 | Ectopic posterior pituitary HP:0040075 | Hypopituitarism HP:0002615 | Hypotension HP:0001943 | Hypoglycemia HP:0010627 | Anterior pituitary hypoplasia HP:0001510 | Growth delay HP:0000457 | Depressed nasal ridge HP:0000839 | Pituitary dwarfism HP:0000938 | Osteopenia HP:0008187 | Absence of secondary sex characteristics HP:0005625 | Osteoporosis of vertebrae HP:0010311 | Aplasia/Hypoplasia of the breasts HP:0000823 | Delayed puberty HP:0009888 | Abnormality of secondary sexual hair HP:0000141 | Amenorrhea HP:0000789 | Infertility HP:0002750 | Delayed skeletal maturation HP:0008245 | Pituitary hypothyroidism |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:20) HP:0000873 | Diabetes insipidus | 5 HP:0000870 | Hyperprolactinemia | 2 HP:0011755 | Ectopic posterior pituitary | 1 HP:0001649 | Tachycardia | 1 HP:0004756 | Ventricular tachycardia | 1 HP:0001249 | Mental retardation | 1 HP:0001664 | Torsade de pointes | 1 HP:0000863 | Neurohypophyseal diabetes insipidus | 1 HP:0000824 | Growth hormone deficiency | 1 HP:0001909 | Leukemia | 1 HP:0011787 | Central hypothyroidism | 1 HP:0004322 | Stature below 3rd percentile | 1 HP:0000846 | Hypoadrenalism | 1 HP:0001263 | Developmental retardation | 1 HP:0040075 | Hypopituitarism | 1 HP:0004808 | Acute myelogenous leukemia | 1 HP:0000365 | Hearing impairment | 1 HP:0000083 | Renal insufficiency | 1 HP:0012324 | Myeloid leukemia | 1 HP:0001510 | Growth deficiency | 1 |
| Disease ID | 426 |
|---|---|
| Disease | panhypopituitarism |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:17) C2707258 | infections C1868690 | adrenal hypoplasia C1412004 | pinealoma C0858734 | insulin hypoglycaemia C0342418 | hypothalamic hamartoma C0242993 | nephropathia epidemica C0233397 | psychological symptoms C0039263 | takayasu's arteritis C0033802 | pseudogout C0032019 | pituitary tumor C0026916 | mycobacterium avium complex infection C0023381 | histiocytosis x C0020625 | hyponatremia C0020615 | hypoglycemia C0015695 | fatty liver C0011304 | myelinolysis C0008370 | cholestasis |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:4) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs104893766 | 16968807 | 5449 | POU1F1 | umls:C0242343 | BeFree | Identification and functional analysis of the novel S179R POU1F1 mutation associated with combined pituitary hormone deficiency. | 0.010510288 | 2006 | POU1F1 | 3 | 87262138 | G | C |
| rs121917839 | 17526949 | 5626 | PROP1 | umls:C0242343 | BeFree | The natural history of the R120C PROP1 mutation reveals a wide phenotypic variability in two untreated adult brothers with combined pituitary hormone deficiency. | 0.135863181 | 2006 | PROP1 | 5 | 177993032 | G | A |
| rs121917841 | 10946881 | 5626 | PROP1 | umls:C0242343 | BeFree | Combined pituitary hormone deficiency caused by a novel mutation of a highly conserved residue (F88S) in the homeodomain of PROP-1. | 0.135863181 | 2000 | PROP1 | 5 | 177994185 | A | G |
| rs28936416 | 14561704 | 8820 | HESX1 | umls:C0242343 | BeFree | We identified a novel homozygous nonconservative missense mutation (I26T) in the critical Engrailed homology repressor domain (eh1) of HESX1, the first, to our knowledge, to be described in humans, in a girl with evolving combined pituitary hormone deficiency born to consanguineous parents. | 0.002714419 | 2003 | HESX1 | 3 | 57199842 | A | G |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:10) | ||||
|---|---|---|---|---|
| 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:0011755 | Ectopic posterior pituitary | MP:0013356 | ectopic pituitary gland | a pituitary gland located outside of its normal position |
| HP:0008734 | Decreased testicular size | MP:0003205 | testicular atrophy | acquired diminution of the size of the testis 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 cha |
| HP:0010311 | Aplasia/Hypoplasia of the breasts | MP:0006271 | abnormal involution of the mammary gland | anomaly in the process during which mammary glands suspend milk protein production, the mammary alveolar structures collapse and secretory epithelial cells are lost |
| HP:0000457 | Depressed nasal ridge | MP:0004872 | absent nasal septum | absence of the structure that separates the two nasal cavities |
| HP:0010627 | Anterior pituitary hypoplasia | 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:0002750 | Delayed skeletal maturation | MP:0003379 | absent sexual maturation | failure to initiate pubertal changes that result in achievement of full sexual capacity |
| HP:0005625 | Osteoporosis of vertebrae | MP:0020010 | decreased bone mineral density of femur | reduction in the quatitative measurment value of mineral content of bone in the long bone of the thigh |
| HP:0000824 | Growth hormone deficiency | MP:0003965 | abnormal pituitary hormone level | aberration in the blood or tissue concentration of any of the hormones secreted by the pituitary |
| HP:0008187 | Absence of secondary sex characteristics | MP:0010728 | fusion of atlas and occipital bones | union of elements of the atlas and the bone at the lower, posterior part of the skull into one structure |
Mapped by homologous gene(Total Items:24) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000789 | Infertility | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000044 | Hypogonadotrophic hypogonadism | 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:0011755 | Ectopic posterior pituitary | 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:0010311 | Aplasia/Hypoplasia of the breasts | MP:0009937 | abnormal neuron differentiation | abnormal growth or development of the cells of the nervous system that receive, conduct, and transmit impulses |
| 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:0000839 | Pituitary dwarfism | 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:0000824 | Growth hormone deficiency | 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:0005625 | Osteoporosis of vertebrae | MP:0020010 | decreased bone mineral density of femur | reduction in the quatitative measurment value of mineral content of bone in the long bone of the thigh |
| HP:0002920 | Decreased circulating ACTH level | MP:0014167 | ectopic bone | the appearance of an extra bone structure at an atypical location |
| HP:0001510 | Growth delay | MP:0020169 | increased thyroid gland weight | higher than average weight of the thyroid gland |
| HP:0000938 | Osteopenia | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000457 | Depressed nasal ridge | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| 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:0001943 | Hypoglycemia | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0008187 | Absence of secondary sex characteristics | MP:0013745 | abnormal eyelid margin morphology | any structural anomaly of the confluence of the mucosal surface of the conjunctiva, the edge of the orbicularis, and the cutaneous epithelium |
| HP:0008734 | Decreased testicular size | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000823 | Delayed puberty | MP:0020087 | increased susceptibility to non-insulin-dependent diabetes | increased likelihood to develop non-insulin-dependent diabetes |
| HP:0040075 | Hypopituitarism | MP:0011495 | abnormal head shape | any anomaly in the characteristic surface outline or contour of a head of an organism |
| HP:0010627 | Anterior pituitary hypoplasia | 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:0002615 | Hypotension | MP:0020214 | susceptible to malignant hyperthermia | increased susceptibility to hyperthermia triggered by exposure to certain drugs used for general anesthesia, specifically the volatile anesthetic agents and the neuromuscular blocking agent, succinylcholine |
| HP:0002750 | Delayed skeletal maturation | MP:0020169 | increased thyroid gland weight | higher than average weight of the thyroid gland |
| HP:0002019 | Constipation | 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:0008245 | Pituitary hypothyroidism | MP:0020087 | increased susceptibility to non-insulin-dependent diabetes | increased likelihood to develop non-insulin-dependent diabetes |
| HP:0000141 | Amenorrhea | MP:0013395 | eyelid hypoplasia | underdevelopment or reduced size of the skin folds covering the front of the eyeball, usually due to a decreased cell number |
| Disease ID | 426 |
|---|---|
| Disease | panhypopituitarism |
| Case | (Waiting for update.) |