FIHP
MCID: FML075
MIFTS: 48

Familial Isolated Hyperparathyroidism (FIHP) malady

Endocrine diseases, Cancer diseases, Genetic diseases categories

Summaries for Familial Isolated Hyperparathyroidism

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21Genetics Home Reference, 46OMIM, 32MalaCards
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Genetics Home Reference:21 Familial isolated hyperparathyroidism is an inherited condition characterized by overactivity of the parathyroid glands (hyperparathyroidism). The four parathyroid glands are located in the neck, and they release a hormone called parathyroid hormone that regulates the amount of calcium in the blood. In familial isolated hyperparathyroidism, one or more overactive parathyroid glands release excess parathyroid hormone, which causes the levels of calcium in the blood to rise (hypercalcemia). Parathyroid hormone stimulates the removal of calcium from bone and the absorption of calcium from the diet, and the mineral is then released into the bloodstream.

MalaCards: Familial Isolated Hyperparathyroidism, also known as hyperparathyroidism 1, is related to hyperparathyroidism and adenoma. An important gene associated with Familial Isolated Hyperparathyroidism is CDC73 (cell division cycle 73). The compounds pamidronate and 25-hydroxyvitamin d have been mentioned in the context of this disorder. Affiliated tissues include bone, and related mouse phenotypes are muscle and digestive/alimentary.

Description from OMIM:46 145000

Aliases & Classifications for Familial Isolated Hyperparathyroidism

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48Orphanet, 46OMIM, 42NIH Rare Diseases, 21Genetics Home Reference, 20GeneTests, 22GTR, 60UMLS, 57SNOMED-CT via Orphanet, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Cancer diseases, Genetic diseases
Anatomical: Endocrine diseases


Characteristics (Orphanet epidemiological data):

48
familial primary hyperparathyroidism:
Inheritance: Autosomal dominant; Age of onset: Childhood


Aliases & Descriptions:

familial isolated hyperparathyroidism 42 21
hyperparathyroidism 1 42 20 22 21 60
fihp 42 21
hyperparathyroidism, familial isolated primary 42
hyperparathyroidism, familial, primary 42
hyperparathyroidism, familial primary 46
familial primary hyperparathyroidism 48
hrpt1 42


External Ids:

SNOMED-CT via Orphanet57 237653008
ICD10 via Orphanet26 E21.0

Related Diseases for Familial Isolated Hyperparathyroidism

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17GeneCards, 18GeneDecks
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Diseases in the Familial Isolated Hyperparathyroidism family:

Cdc73-Related Familial Isolated Hyperparathyroidism

Diseases related to Familial Isolated Hyperparathyroidism via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 75)
idRelated DiseaseScoreTop Affiliating Genes
1hyperparathyroidism31.1CASR, GAST, MEN1, CDC73, RET, PTH
2adenoma30.4PTH, RET, CDC73, MEN1, GAST, CASR
3hyperparathyroidism-jaw tumor syndrome30.3CDC73
4acromegaly30.1MEN1
5parathyroid carcinoma30.1CASR, MEN1, CDC73, PTH
6parathyroid adenoma30.1CASR, MEN1, CDC73, RET, PTH
7primary hyperparathyroidism30.1CASR, GAST, MEN1, CDC73, PTH, RET
8cdc73-related familial isolated hyperparathyroidism10.2
9ossifying fibroma10.1
10long qt syndrome10.1
11pituitary tumors10.0MEN1
12pancreatitis10.0CASR
13wilms tumor10.0CDC73
14adrenal adenoma10.0MEN1
15astrocytoma10.0CASR
16renal dysplasia10.0RET
17prostate cancer10.0CASR
18hypophosphatemia10.0PTH
19neuroma10.0RET
20hypertension10.0PTH
21somatostatinoma10.0GAST
22hyperinsulinemic hypoglycemia10.0GAST
23meningioma10.0MEN1
24short bowel syndrome10.0GAST
25pyloric stenosis10.0GAST
26achalasia10.0GAST
27von hippel-lindau disease10.0RET, MEN1
28hemangioma10.0RET, MEN1
29familial colorectal cancer10.0RET, MEN1
30rickets10.0PTH
31esophagitis10.0GAST
32neurofibromatosis10.0RET, MEN1
33osteomalacia10.0PTH, CASR
34hypoparathyroidism familial isolated10.0PTH, CASR
35osteitis fibrosa10.0CASR, PTH
36cushing's syndrome10.0RET, MEN1
37hypothyroidism10.0PTH, CASR
38hyperphosphatemia10.0PTH, CASR
39diabetes mellitus10.0CASR, PTH
40renal osteodystrophy10.0PTH, CASR
41calcinosis10.0PTH, CASR
42vipoma10.0MEN1, GAST
43zollinger-ellison syndrome10.0GAST, MEN1
44atrophic gastritis10.0MEN1, GAST
45autosomal dominant disease10.0RET, PTH
46papillary thyroid carcinoma10.0RET, MEN1
47serotonin syndrome10.0MEN1, GAST
48glucagonoma10.0MEN1, GAST
49endocrine gland cancer10.0GAST, RET
50secondary syphilis10.0PTH, CASR

Graphical network of the top 20 diseases related to Familial Isolated Hyperparathyroidism:



Diseases related to familial isolated hyperparathyroidism

Clinical Features for Familial Isolated Hyperparathyroidism

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46OMIM
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Clinical features from OMIM:

145000

Clinical synopsis from OMIM:

145000

Drugs & Therapeutics for Familial Isolated Hyperparathyroidism

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Familial Isolated Hyperparathyroidism

Drug clinical trials:

Search ClinicalTrials for Familial Isolated Hyperparathyroidism

Search NIH Clinical Center for Familial Isolated Hyperparathyroidism

Search CenterWatch for Familial Isolated Hyperparathyroidism

Genetic Tests for Familial Isolated Hyperparathyroidism

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20GeneTests, 22GTR
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Genetic tests related to Familial Isolated Hyperparathyroidism:

id Genetic test Affiliating Genes
1 Hyperparathyroidism 120 22 MEN1

Anatomical Context for Familial Isolated Hyperparathyroidism

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32MalaCards
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MalaCards organs/tissues related to Familial Isolated Hyperparathyroidism:

32
Bone

Animal Models for Familial Isolated Hyperparathyroidism or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Familial Isolated Hyperparathyroidism:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.5RET, CDC73, MEN1, CASR
2MP:00053817.9CASR, GAST, MEN1, CDC73, RET
3MP:00053767.7RET, CDC73, MEN1, GAST, CASR
4MP:00053787.6CASR, MEN1, CDC73, RET, PTH
5MP:00053797.3PTH, RET, CDC73, MEN1, GAST, CASR
6MP:00053877.2CASR, GAST, MEN1, CDC73, RET, PTH
7MP:00107687.1CASR, GAST, MEN1, CDC73, RET, PTH

Publications for Familial Isolated Hyperparathyroidism

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Genetic Variations for Familial Isolated Hyperparathyroidism

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Familial Isolated Hyperparathyroidism:

62
id Symbol AA change Variation ID SNP ID
1CDC73p.Leu64ProVAR_024082
2MEN1p.Val189GluVAR_005445
3MEN1p.Glu260LysVAR_005448
4MEN1p.Leu272ProVAR_005450
5MEN1p.Asp158ValVAR_039592
6MEN1p.Gln265ProVAR_039612
7MEN1p.Pro282HisVAR_039615
8MEN1p.Gly310AspVAR_039618
9MEN1p.Ala416ProVAR_039634

Expression for genes affiliated with Familial Isolated Hyperparathyroidism

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Familial Isolated Hyperparathyroidism

Search GEO for disease gene expression data for Familial Isolated Hyperparathyroidism.

Pathways for genes affiliated with Familial Isolated Hyperparathyroidism

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Compounds for genes affiliated with Familial Isolated Hyperparathyroidism

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Sources:
44Novoseek, 49PharmGKB, 11DrugBank, 24HMDB, 59Tocris Bioscience
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Compounds related to Familial Isolated Hyperparathyroidism according to GeneCards/GeneDecks:

(show all 18)
idCompoundScoreTop Affiliating Genes
1pamidronate44 49 1111.6CASR, PTH
225-hydroxyvitamin d449.6PTH, CASR
3phosphorus449.5PTH, CASR
4peptone449.4GAST, CASR
5neomycin449.2GAST, CASR
6ribonucleic acid449.1PTH, RET, CASR
7ag 1478448.9PTH, GAST
8cyclic amp44 249.8PTH, RET, CASR
9calcitriol44 59 11 2411.8CASR, GAST, PTH
10thymidine44 249.8GAST, MEN1, PTH
11creatinine448.7PTH, GAST, CASR
12adenylate448.6CASR, GAST, PTH
13testosterone44 59 11 2411.5PTH, RET, GAST
14vitamin d448.4PTH, MEN1, GAST, CASR
15vegf448.3PTH, RET, MEN1, GAST
16serine447.9CASR, GAST, MEN1, RET
17tyrosine447.8CASR, GAST, MEN1, RET, PTH
18calcium44 49 11 2410.8CASR, GAST, MEN1, RET, PTH

GO Terms for genes affiliated with Familial Isolated Hyperparathyroidism

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16Gene Ontology
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Biological processes related to Familial Isolated Hyperparathyroidism according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1MAPK cascadeGO:0001659.4RET, MEN1
2cellular calcium ion homeostasisGO:0068749.0CASR, PTH
3negative regulation of transcription from RNA polymerase II promoterGO:0001229.0PTH, CDC73, MEN1
4G-protein coupled receptor signaling pathwayGO:0071868.5PTH, GAST, CASR

Molecular functions related to Familial Isolated Hyperparathyroidism according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1hormone activityGO:0051799.0PTH, GAST

Products for genes affiliated with Familial Isolated Hyperparathyroidism

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Familial Isolated Hyperparathyroidism

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet