PedAM

Pediatric Disease Annotations & Medicines


	panhypopituitarism

Disease ID	234
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	ORPHANET:90695
OMIM	OMIM:262600
DOID	DOID:9410
UMLS	C0242343
SNOMED-CT	SNOMEDCT_US_2016_09_01:32390006
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:20) C0011848 \| diabetes insipidus \| 5 C0011847 \| diabetes \| 3 C0242342 \| sheehan syndrome \| 2 C0032001 \| pituitary apoplexy \| 1 C0023470 \| myeloid leukemia \| 1 C0013338 \| growth hormone deficiency \| 1 C1565489 \| renal insufficiency \| 1 C0020514 \| hyperprolactinaemia \| 1 C0242342 \| sheehan's syndrome \| 1 C0019204 \| hepatocellular carcinoma \| 1 C0687720 \| central diabetes insipidus \| 1 C0405580 \| hypoadrenocorticism \| 1 C0271789 \| tsh deficiency \| 1 C0020676 \| hypothyroid \| 1 C0010481 \| cushing's syndrome \| 1 C0001623 \| adrenal insufficiency \| 1 C0023467 \| acute myeloid leukemia \| 1 C0042769 \| virus infection \| 1 C0023418 \| leukemia \| 1 C0020514 \| hyperprolactinemia \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:9) HESX1 \| 8820 \| GHR POU1F1 \| 5449 \| GHR GLI2 \| 2736 \| GHR SOX3 \| 6658 \| ORPHANET PROP1 \| 5626 \| ORPHANET;GHR SOX2 \| 6657 \| GHR LHX4 \| 89884 \| GHR OTX2 \| 5015 \| GHR LHX3 \| 8022 \| GHR
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:2) 5449 \| POU1F1 \| infer 5626 \| PROP1 \| infer
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:79) 128674 \| PROKR2 \| DISEASES 5020 \| OXT \| DISEASES 3982 \| LIM2 \| DISEASES 6822 \| SULT2A1 \| DISEASES 2645 \| GCK \| DISEASES 7126 \| TNFAIP1 \| DISEASES 2690 \| GHR \| DISEASES 3488 \| IGFBP5 \| DISEASES 5657 \| PRTN3 \| DISEASES 2691 \| GHRH \| DISEASES 1446 \| CSN1S1 \| DISEASES 968 \| CD68 \| DISEASES 3630 \| INS \| DISEASES 3958 \| LGALS3 \| DISEASES 55997 \| CFC1 \| DISEASES 1588 \| CYP19A1 \| DISEASES 23314 \| SATB2 \| DISEASES 6855 \| SYP \| DISEASES 10994 \| ILVBL \| DISEASES 50937 \| CDON \| DISEASES 89884 \| LHX4 \| DISEASES 5443 \| POMC \| DISEASES 8034 \| SLC25A16 \| DISEASES 3487 \| IGFBP4 \| DISEASES 23432 \| GPR161 \| DISEASES 3484 \| IGFBP1 \| DISEASES 2796 \| GNRH1 \| DISEASES 1392 \| CRH \| DISEASES 83439 \| TCF7L1 \| DISEASES 4838 \| NODAL \| DISEASES 6750 \| SST \| DISEASES 673 \| BRAF \| DISEASES 60675 \| PROK2 \| DISEASES 3549 \| IHH \| DISEASES 8820 \| HESX1 \| DISEASES 6469 \| SHH \| DISEASES 6447 \| SCG5 \| DISEASES 3489 \| IGFBP6 \| DISEASES 5617 \| PRL \| DISEASES 3479 \| IGF1 \| DISEASES 7200 \| TRH \| DISEASES 147 \| ADRA1B \| DISEASES 9915 \| ARNT2 \| DISEASES 5626 \| PROP1 \| DISEASES 2688 \| GH1 \| DISEASES 3170 \| FOXA2 \| DISEASES 2253 \| FGF8 \| DISEASES 2274 \| FHL2 \| DISEASES 6657 \| SOX2 \| DISEASES 4990 \| SIX6 \| DISEASES 796 \| CALCA \| DISEASES 4158 \| MC2R \| DISEASES 5449 \| POU1F1 \| DISEASES 5015 \| OTX2 \| DISEASES 2736 \| GLI2 \| DISEASES 7044 \| LEFTY2 \| DISEASES 3664 \| IRF6 \| DISEASES 9095 \| TBX19 \| DISEASES 632 \| BGLAP \| DISEASES 6566 \| SLC16A1 \| DISEASES 4791 \| NFKB2 \| DISEASES 6658 \| SOX3 \| DISEASES 3547 \| IGSF1 \| DISEASES 7737 \| RNF113A \| DISEASES 8022 \| LHX3 \| DISEASES 80712 \| ESX1 \| DISEASES 7546 \| ZIC2 \| DISEASES 5080 \| PAX6 \| DISEASES 146 \| ADRA1D \| DISEASES 551 \| AVP \| DISEASES 3486 \| IGFBP3 \| DISEASES 5618 \| PRLR \| DISEASES 7436 \| VLDLR \| DISEASES 51244 \| CCDC174 \| DISEASES 6833 \| ABCC8 \| DISEASES 2737 \| GLI3 \| DISEASES 2641 \| GCG \| DISEASES 3481 \| IGF2 \| DISEASES 10687 \| PNMA2 \| DISEASES
Locus	Symbol \| Locus(Total Locus:2) SOX3 \| Xq27.1 PROP1 \| 5q35.3

Disease ID	234
Disease	panhypopituitarism
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:27) HP:0000823 \| Delayed puberty HP:0002019 \| Constipation HP:0040075 \| Hypopituitarism HP:0000789 \| Infertility HP:0010627 \| Anterior pituitary hypoplasia HP:0008734 \| Decreased testicular size HP:0004322 \| Short stature HP:0001510 \| Growth delay HP:0012731 \| Ectopic anterior pituitary gland HP:0040086 \| Abnormal prolactin level HP:0005625 \| Osteoporosis of vertebrae HP:0000044 \| Hypogonadotrophic hypogonadism HP:0001943 \| Hypoglycemia HP:0000839 \| Pituitary dwarfism HP:0002615 \| Hypotension HP:0012378 \| Fatigue HP:0010311 \| Aplasia/Hypoplasia of the breasts HP:0000938 \| Osteopenia HP:0000824 \| Growth hormone deficiency HP:0011755 \| Ectopic posterior pituitary HP:0002920 \| Decreased circulating ACTH level HP:0000457 \| Depressed nasal ridge HP:0009888 \| Abnormality of secondary sexual hair HP:0008245 \| Pituitary hypothyroidism HP:0008187 \| Absence of secondary sex characteristics HP:0002750 \| Delayed skeletal maturation HP:0000141 \| Amenorrhea
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:19) HP:0000873 \| Diabetes insipidus \| 5 HP:0000870 \| Hyperprolactinemia \| 2 HP:0000365 \| Hearing impairment \| 1 HP:0004756 \| Ventricular tachycardia \| 1 HP:0004808 \| Acute myelogenous leukemia \| 1 HP:0001263 \| Developmental retardation \| 1 HP:0000863 \| Neurohypophyseal diabetes insipidus \| 1 HP:0030731 \| Carcinoma \| 1 HP:0001402 \| Hepatocellular carcinoma \| 1 HP:0000846 \| Hypoadrenalism \| 1 HP:0011787 \| Central hypothyroidism \| 1 HP:0001909 \| Leukemia \| 1 HP:0011755 \| Ectopic posterior pituitary \| 1 HP:0001664 \| Torsade de pointes \| 1 HP:0001649 \| Tachycardia \| 1 HP:0000083 \| Renal insufficiency \| 1 HP:0000824 \| Growth hormone deficiency \| 1 HP:0012324 \| Myeloid leukemia \| 1 HP:0001510 \| Growth deficiency \| 1

Disease ID	234
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)
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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)
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GWASdb Snp Trait(Total Genotypes:0)
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Mapped by lexical matching(Total Items:0)
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Mapped by homologous gene(Total Items:0)
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Chemical(Total Drugs:0)
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FDA approved drug and dosage information(Total Drugs:0)
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FDA labeling changes(Total Drugs:0)
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