PedAM

Pediatric Disease Annotations & Medicines


	hypoparathyroidism

Disease ID	378
Disease	hypoparathyroidism
Definition	A condition caused by a deficiency of PARATHYROID HORMONE (or PTH). It is characterized by HYPOCALCEMIA and hyperphosphatemia. Hypocalcemia leads to TETANY. The acquired form is due to removal or injuries to the PARATHYROID GLANDS. The congenital form is due to mutations of genes, such as TBX1; (see DIGEORGE SYNDROME); CASR encoding CALCIUM-SENSING RECEPTOR; or PTH encoding parathyroid hormone.
Synonym	deficiency of parathyrin deficiency of parathyroid hormone deficiency of pth hypoparathyroid hypoparathyroidism (disorder) hypoparathyroidism [disease/finding] hypoparathyroidism nos hypoparathyroidism nos (disorder) hypoparathyroidism, nos low parathyroid hormone
DOID	DOID:11199
UMLS	C0020626
MeSH	D007011
SNOMED-CT	SNOMEDCT_US_2016_09_01:36976004
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:51) C1389280 \| basal ganglia calcification \| 3 C0020437 \| hypercalcemia \| 3 C0085681 \| hyperphosphatemia \| 3 C0005940 \| bone disease \| 3 C0019202 \| wilson's disease \| 2 C0021053 \| immune disease \| 2 C0036202 \| sarcoidosis \| 2 C0040147 \| thyroiditis \| 2 C0018801 \| heart failure \| 2 C0039730 \| thalassemia \| 2 C0025362 \| mental retardation \| 1 C0035078 \| kidney failure \| 1 C0036421 \| systemic sclerosis \| 1 C0002170 \| alopecia \| 1 C0022661 \| chronic kidney failure \| 1 C0027709 \| nephrocalcinosis \| 1 C0018784 \| sensorineural deafness \| 1 C0006663 \| calcinosis \| 1 C0018213 \| graves' disease \| 1 C0024523 \| malabsorption syndrome \| 1 C0041327 \| pulmonary tuberculosis \| 1 C0038238 \| steatorrhea \| 1 C1389280 \| basal ganglia calcifications \| 1 C0033806 \| pseudohypoparathyroidism \| 1 C0024523 \| intestinal malabsorption \| 1 C0878544 \| cardiomyopathy \| 1 C0020502 \| hyperparathyroidism \| 1 C0085655 \| polymyositis \| 1 C0007115 \| thyroid cancer \| 1 C0152021 \| congenital heart disease \| 1 C0011644 \| scleroderma \| 1 C0007133 \| papillary carcinoma \| 1 C0011849 \| diabetes mellitus \| 1 C1333387 \| endocrine syndrome \| 1 C0155550 \| neural deafness \| 1 C0024141 \| systemic lupus erythematosus \| 1 C0011854 \| type 1 diabetes \| 1 C1744558 \| t-cell deficiency \| 1 C0011847 \| diabetes \| 1 C0007193 \| dilated cardiomyopathy \| 1 C0024523 \| malabsorption \| 1 C0006666 \| calciphylaxis \| 1 C0033860 \| psoriasis \| 1 C0007115 \| thyroid ca \| 1 C0409974 \| lupus erythematosus \| 1 C0003467 \| anxiety \| 1 C0011882 \| diabetic neuropathy \| 1 C0011854 \| type 1 diabetes mellitus \| 1 C1389280 \| calcification of the basal ganglia \| 1 C0018799 \| heart disease \| 1 C0014544 \| epilepsy \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) CASR \| 846 \| CTD_human
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:5) 326 \| AIRE \| infer 846 \| CASR \| infer 1493 \| CTLA4 \| infer 9247 \| GCM2 \| infer 26191 \| PTPN22 \| infer
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:123) 2767 \| GNA11 \| DISEASES 55808 \| ST6GALNAC1 \| DISEASES 6561 \| SLC13A1 \| DISEASES 124 \| ADH1A \| DISEASES 10598 \| AHSA1 \| DISEASES 479 \| ATP12A \| DISEASES 54 \| ACP5 \| DISEASES 11151 \| CORO1A \| DISEASES 7038 \| TG \| DISEASES 8074 \| FGF23 \| DISEASES 5507 \| PPP1R3C \| DISEASES 8600 \| TNFSF11 \| DISEASES 6903 \| TBCC \| DISEASES 7166 \| TPH1 \| DISEASES 3630 \| INS \| DISEASES 2012 \| EMP1 \| DISEASES 3431 \| SP110 \| DISEASES 26525 \| IL36RN \| DISEASES 55997 \| CFC1 \| DISEASES 84681 \| HINT2 \| DISEASES 29113 \| C6orf15 \| DISEASES 2201 \| FBN2 \| DISEASES 495 \| ATP4A \| DISEASES 9993 \| DGCR2 \| DISEASES 7353 \| UFD1L \| DISEASES 7290 \| HIRA \| DISEASES 1175 \| AP2S1 \| DISEASES 5443 \| POMC \| DISEASES 10686 \| CLDN16 \| DISEASES 56302 \| TRPV5 \| DISEASES 5373 \| PMM2 \| DISEASES 5211 \| PFKL \| DISEASES 5746 \| PTH2R \| DISEASES 25953 \| PNKD \| DISEASES 100996939 \| PYURF \| DISEASES 7552 \| ZNF711 \| DISEASES 4253 \| CTAGE5 \| DISEASES 5860 \| QDPR \| DISEASES 5741 \| PTH \| DISEASES 5822 \| PWP2 \| DISEASES 326 \| AIRE \| DISEASES 6159 \| RPL29 \| DISEASES 248 \| ALPI \| DISEASES 213 \| ALB \| DISEASES 4982 \| TNFRSF11B \| DISEASES 10922 \| FASTK \| DISEASES 9317 \| PTER \| DISEASES 50964 \| SOST \| DISEASES 5617 \| PRL \| DISEASES 3479 \| IGF1 \| DISEASES 7200 \| TRH \| DISEASES 1493 \| CTLA4 \| DISEASES 79660 \| PPP1R3B \| DISEASES 763 \| CA5A \| DISEASES 80227 \| PAAF1 \| DISEASES 54221 \| SNTG2 \| DISEASES 1960 \| EGR3 \| DISEASES 7173 \| TPO \| DISEASES 23200 \| ATP11B \| DISEASES 6569 \| SLC34A1 \| DISEASES 5745 \| PTH1R \| DISEASES 3032 \| HADHB \| DISEASES 9735 \| KNTC1 \| DISEASES 50616 \| IL22 \| DISEASES 2520 \| GAST \| DISEASES 796 \| CALCA \| DISEASES 6899 \| TBX1 \| DISEASES 286410 \| ATP11C \| DISEASES 3043 \| HBB \| DISEASES 4221 \| MEN1 \| DISEASES 3988 \| LIPA \| DISEASES 23562 \| CLDN14 \| DISEASES 6575 \| SLC20A2 \| DISEASES 8805 \| TRIM24 \| DISEASES 1758 \| DMP1 \| DISEASES 7549 \| ZNF2 \| DISEASES 1760 \| DMPK \| DISEASES 6904 \| TBCD \| DISEASES 5979 \| RET \| DISEASES 170685 \| NUDT10 \| DISEASES 112476 \| PRRT2 \| DISEASES 140803 \| TRPM6 \| DISEASES 63901 \| FAM111A \| DISEASES 6905 \| TBCE \| DISEASES 79577 \| CDC73 \| DISEASES 55811 \| ADCY10 \| DISEASES 632 \| BGLAP \| DISEASES 284486 \| THEM5 \| DISEASES 5710 \| PSMD4 \| DISEASES 27246 \| RNF115 \| DISEASES 1810 \| DR1 \| DISEASES 6658 \| SOX3 \| DISEASES 2778 \| GNAS \| DISEASES 8675 \| STX16 \| DISEASES 6512 \| SLC1A7 \| DISEASES 249 \| ALPL \| DISEASES 8718 \| TNFRSF25 \| DISEASES 2625 \| GATA3 \| DISEASES 9247 \| GCM2 \| DISEASES 551 \| AVP \| DISEASES 6902 \| TBCA \| DISEASES 126206 \| NLRP5 \| DISEASES 250 \| ALPP \| DISEASES 2591 \| GALNT3 \| DISEASES 6996 \| TDG \| DISEASES 6152 \| RPL24 \| DISEASES 5744 \| PTHLH \| DISEASES 100134934 \| TEN1 \| DISEASES 5075 \| PAX1 \| DISEASES 23414 \| ZFPM2 \| DISEASES 51571 \| FAM49B \| DISEASES 10659 \| CELF2 \| DISEASES 55636 \| CHD7 \| DISEASES 6158 \| RPL28 \| DISEASES 6559 \| SLC12A3 \| DISEASES 10908 \| PNPLA6 \| DISEASES 846 \| CASR \| DISEASES 5164 \| PDK2 \| DISEASES 23263 \| MCF2L \| DISEASES 64426 \| SUDS3 \| DISEASES 7421 \| VDR \| DISEASES 8972 \| MGAM \| DISEASES 102723508 \| KANTR \| DISEASES
Locus	(Waiting for update.)

Disease ID	378
Disease	hypoparathyroidism
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:46) HP:0002901 \| Hypocalcemia \| 50 HP:0000365 \| Hearing impairment \| 7 HP:0001250 \| Seizures \| 6 HP:0002514 \| Intracranial calcifications \| 6 HP:0002135 \| Basal ganglia calcification \| 4 HP:0002917 \| Low blood magnesium levels \| 4 HP:0003072 \| Hypercalcemia \| 3 HP:0002905 \| Hyperphosphatemia \| 3 HP:0100646 \| Thyroiditis \| 2 HP:0002071 \| Extrapyramidal dysfunction \| 2 HP:0001281 \| Tetany \| 2 HP:0002960 \| Autoimmune condition \| 2 HP:0001635 \| Congestive heart failure \| 2 HP:0200114 \| Metabolic alkalosis \| 1 HP:0012378 \| Fatigue \| 1 HP:0001596 \| Hair loss \| 1 HP:0000843 \| Hyperparathyroidism \| 1 HP:0000952 \| Yellow skin \| 1 HP:0003201 \| Rhabdomyolysis \| 1 HP:0003761 \| Calcinosis \| 1 HP:0002570 \| Steatorrhea \| 1 HP:0008249 \| Large thyroid \| 1 HP:0010049 \| Metacarpal hypoplasia \| 1 HP:0001249 \| Mental retardation \| 1 HP:0001644 \| Congestive cardiomyopathy \| 1 HP:0000407 \| sensorineural hearing loss \| 1 HP:0001118 \| Juvenile cataract \| 1 HP:0008208 \| Parathyroid hyperplasia \| 1 HP:0003472 \| Hypocalcemic tetany \| 1 HP:0003401 \| Paresthesia \| 1 HP:0000739 \| Anxiety \| 1 HP:0000121 \| Nephrocalcinosis \| 1 HP:0002725 \| Systemic lupus erythematosus \| 1 HP:0001945 \| Fever \| 1 HP:0100324 \| Progressive systemic scleroderma \| 1 HP:0002024 \| Intestinal malabsorption \| 1 HP:0000852 \| Pseudohypoparathyroidism \| 1 HP:0000819 \| Diabetes mellitus \| 1 HP:0002900 \| Hypokalemia \| 1 HP:0003765 \| Psoriasis \| 1 HP:0001638 \| Cardiomyopathy \| 1 HP:0002197 \| Generalized seizures \| 1 HP:0002287 \| Progressive alopecia \| 1 HP:0002148 \| Hypophosphataemia \| 1 HP:0000505 \| Poor vision \| 1 HP:0001948 \| Alkalosis \| 1

Disease ID	378
Disease	hypoparathyroidism
Manually Symptom	UMLS \| Name(Total Manually Symptoms:51) C2697391 \| rheumatoid arthritis C2697310 \| sarcoidosis C2183399 \| stupor C1963138 \| hypertension C1963101 \| encephalopathy C1521736 \| parkinson's disease C1389280 \| calcification of the basal ganglia C1389280 \| basal ganglia calcification C1384665 \| hemochromatosis C1368019 \| paget's disease C1096308 \| hypergonadism C0878544 \| myocardiopathy C0878544 \| cardiomyopathy C0752303 \| urological manifestations C0752303 \| urological manifestation C0751265 \| learning disabilities C0740394 \| hyperuricemia C0338437 \| neurocysticercosis C0262548 \| maternal hypothyroidism C0235270 \| keratopathy C0162309 \| adrenoleukomyeloneuropathy C0154162 \| riedel's thyroiditis C0085681 \| hyperphosphataemia C0039070 \| syncopes C0038238 \| steatorrhea C0038012 \| spondylitis C0037763 \| spasms C0037140 \| b virus infection C0033975 \| psychosis C0033860 \| psoriasis C0033845 \| pseudotumour cerebri C0029166 \| oral manifestations C0028961 \| oliguria C0027127 \| thomsen's disease C0027066 \| myoclonus C0023066 \| laryngospasm C0020598 \| hypocalcemia C0020438 \| hypercalciuria C0020437 \| hypercalcemia C0019202 \| wilson's disease C0018802 \| congestive heart failure C0018801 \| heart failure C0018784 \| sensorineural hearing loss C0010823 \| cytomegalic inclusion disease C0008489 \| choreiform movements C0007760 \| cerebellar syndrome C0006845 \| chronic mucocutaneous candidiasis C0006663 \| calcinosis C0004364 \| autoimmune diseases C0002063 \| alkalosis C0000744 \| mtp deficiency
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:13) C0020598 \| hypocalcemia \| 31 C1389280 \| basal ganglia calcification \| 3 C0154162 \| riedel's thyroiditis \| 2 C0019202 \| wilson's disease \| 2 C0020437 \| hypercalcemia \| 2 C0036202 \| sarcoidosis \| 2 C0004364 \| autoimmune diseases \| 2 C0018801 \| heart failure \| 2 C0006663 \| calcinosis \| 1 C1389280 \| calcification of the basal ganglia \| 1 C0878544 \| cardiomyopathy \| 1 C0033860 \| psoriasis \| 1 C0038238 \| steatorrhea \| 1

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
C0020626	calcitriol	D002117	32222-06-3	hypoparathyroidism	MESH:D007011	therapeutic	2856045

FDA approved drug and dosage information(Total Drugs:1)
DiseaseID	Drug_name	active_ingredients	strength	Dosage Form/Route	Marketing Status	TE code	RLD	RS
MESH:D007011	calcijex	calcitriol	0.001MG/ML Federal Register determination that product was not discontinued or withdrawn for safety or efficacy reasons	INJECTABLE;INJECTION	Discontinued	None	Yes	No

FDA labeling changes(Total Drugs:1)
DiseaseID	Pediatric_Labeling_Date	Trade_Name	Generic_Name_or_Proper_Name	Indications Studied	Label Changes Summary	Product Labeling	BPCA(B)	PREA(P)	BPCA(B) and PREA(P)	Pediatric Rule (R)	Sponsor	Pediatric Exclusivity Granted Date	NNPS
MESH:D007011	11/16/2001	calcijex	calcitriol	Management of hypocalcemia in patients undergoing chronic renal dialysis	The safety and effectiveness of calcitriol was examined in a double-blind placebo-controlled trial of 35 pediatric patients (13-18 years of age) with end-stage renal disease and on dialysis. The primary efficacy endpoint favored the calcitriol-treated versus the placebo-treated patients Transient hypercalcemia was seen in 1 of 16 calcitriol-treated patients; 6 of 16 (38%) calcitriol-treated patients and 2 of 19 (11%) placebo-treated patients had Ca x P >75	Labeling	B	-	-	-	Abbott	02/16/2001	FALSE'

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