FIH
MCID: FML362
MIFTS: 47

Familial Isolated Hypoparathyroidism (FIH)

Categories: Endocrine diseases, Eye diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Familial Isolated Hypoparathyroidism

MalaCards integrated aliases for Familial Isolated Hypoparathyroidism:

Name: Familial Isolated Hypoparathyroidism 12 58 29 6 15
Hypoparathyroidism Familial Isolated 52
Fih 12

Characteristics:

Orphanet epidemiological data:

58
familial isolated hypoparathyroidism
Inheritance: Autosomal dominant,Autosomal recessive,X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages;

Classifications:

Orphanet: 58  
Rare eye diseases
Rare endocrine diseases


External Ids:

Disease Ontology 12 DOID:0111387
MESH via Orphanet 44 C537156
ICD10 via Orphanet 33 E20.8
UMLS via Orphanet 72 C1832648
Orphanet 58 ORPHA2238

Summaries for Familial Isolated Hypoparathyroidism

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2238 Definition Familial isolated hypoparathyroidism (FIH) is a rare heterogeneous group of metabolic disorders characterized by abnormal calcium metabolism due to deficient secretion of parathormone (PTH), without other endocrine disorders or developmental defects. Clinical description It can occur at any age (from the newborn period to adulthood) but generally starts within the first decade of life. Diagnosis is made when hypocalcemia, hyperphosphoremia, and low or undetectable PTH levels are observed. The clinical signs are mainly those of hypocalcemia: myopathy, muscular weakness, cramps, tetany, lenticular cataracts , teeth anomalies and short stature . Etiology FIH may be due to an activating mutation of the calcium-sensing receptor (CASR ) gene . This is the most common cause of genetic hypoparathyroidism and is transmitted as an autosomal dominant trait . It represents 42% of isolated hypoparathyroidism cases. Thirteen mutations have been described in familial or sporadic cases. In three families, mutations in the PTH gene have been identified. This type of FIH is transmitted as an autosomal recessive or dominant trait. One family has been reported with a mutation in the gene encoding the glial cells missing homolog b (GCMB ) transcription factor. In this case, transmission is autosomal recessive. Genetic counseling Isolated hypoparathyroidism may be sporadic or familial, with autosomal dominant or recessive inheritance. Management and treatment Management consists of symptomatic treatment with supplementary calcium and vitamin D. Visit the Orphanet disease page for more resources.

MalaCards based summary : Familial Isolated Hypoparathyroidism, also known as hypoparathyroidism familial isolated, is related to hypoparathyroidism, familial isolated, 1 and hypoparathyroidism. An important gene associated with Familial Isolated Hypoparathyroidism is PTH (Parathyroid Hormone), and among its related pathways/superpathways are Cellular Senescence (REACTOME) and Pathways in cancer. Affiliated tissues include eye, and related phenotypes are short stature and nephropathy

Disease Ontology : 12 A hypoparathyroidism that has material basis in mutation in PTH on chromosome 6p24.2 or in GCM2 on chromosome 11p15.3.

Related Diseases for Familial Isolated Hypoparathyroidism

Diseases in the Familial Isolated Hypoparathyroidism family:

Hypoparathyroidism, Familial Isolated, 1 Hypoparathyroidism, Familial Isolated, 2
Familial Isolated Hypoparathyroidism Due to Agenesis of Parathyroid Gland

Diseases related to Familial Isolated Hypoparathyroidism via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 50)
# Related Disease Score Top Affiliating Genes
1 hypoparathyroidism, familial isolated, 1 33.6 PTH GCM2
2 hypoparathyroidism 33.3 PTH GCM2 CASR
3 hyperphosphatemia 30.9 PTH GCM2 CASR
4 hypoxia 30.8 VHL HIF1AN HIF1A EP300 EGLN3 EGLN2
5 clear cell renal cell carcinoma 30.5 VHL HIF1A EP300 EGLN3 ARNT
6 renal cell carcinoma, nonpapillary 30.3 VHL MIR31 KDM4C HIF1AN HIF1A EGLN3
7 familial isolated hypoparathyroidism due to agenesis of parathyroid gland 12.4
8 hypoparathyroidism, familial isolated, 2 11.7
9 hypoparathyroidism, sensorineural deafness, and renal disease 10.5 PTH GCM2 CASR
10 chondrodysplasia, blomstrand type 10.5 PTH GCM2 CASR
11 familial hypocalciuric hypercalcemia 10.5 PTH GCM2 CASR
12 fumarate hydratase deficiency 10.5 VHL HIF1A
13 hypercalcemia, infantile, 1 10.5 PTH CASR
14 hypocalcemia, autosomal dominant 1 10.5 PTH GCM2 CASR
15 erythrocytosis, familial, 4 10.5 VHL EGLN1
16 parathyroid adenoma 10.5 PTH GCM2 CASR
17 enchondromatosis, multiple, ollier type 10.5 PTH KDM4C HIF1A
18 hypocalciuric hypercalcemia, familial, type i 10.5 PTH CASR
19 esophagus carcinoma in situ 10.5 HIF1A ARNT
20 pheochromocytoma-paraganglioma 10.5 VHL EGLN2 EGLN1
21 primary hyperparathyroidism 10.4 PTH GCM2 CASR
22 hypocalciuric hypercalcemia, familial, type ii 10.4 PTH CASR
23 hyperparathyroidism 10.4 PTH GCM2 CASR
24 paraganglioma 10.4 VHL HIF1A EGLN1
25 retinal hemangioblastoma 10.4 VHL HIF1A
26 hypocalciuric hypercalcemia, familial, type iii 10.4 PTH CASR
27 endocrine organ benign neoplasm 10.4 VHL PTH KDM4C
28 cardiovascular organ benign neoplasm 10.4 VHL KDM4C HIF1A
29 acute mountain sickness 10.4 VHL HIF1AN HIF1A EGLN1
30 esophagus leiomyoma 10.4 VHL EGLN3 EGLN2 EGLN1
31 erythrocytosis, familial, 8 10.3 EIF5B EGLN1
32 calciphylaxis 10.3 PTH CASR
33 digeorge syndrome 10.3 PTH MIR31 GCM2 CASR
34 ovarian cancer 10.3
35 polycythemia 10.2 VHL HIF1A EGLN3 EGLN2 EGLN1
36 multiple endocrine neoplasia, type i 10.2 VHL PTH CASR
37 pheochromocytoma 10.2 VHL HIF1A EGLN3 EGLN2 EGLN1
38 osteitis fibrosa 10.2 PTH CASR
39 amyotrophic lateral sclerosis 1 10.1
40 hepatocellular carcinoma 10.1
41 hutterite cerebroosteonephrodysplasia syndrome 10.1
42 myeloma, multiple 10.1
43 lymphoma 10.1
44 lateral sclerosis 10.1
45 primary polycythemia 10.1 VHL HIF1A EIF5B EGLN3 EGLN2 EGLN1
46 hypoparathyroidism-retardation-dysmorphism syndrome 10.1 PTH GCM2
47 parathyroid gland disease 10.1 PTH MIR31 KDM4C HIF1AN GCM2 EGLN2
48 erythrocytosis, familial, 2, autosomal recessive 10.0 VHL HIF1A EIF5B EGLN3 EGLN2 EGLN1
49 inherited metabolic disorder 9.8
50 paresthesia 9.8

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



Diseases related to Familial Isolated Hypoparathyroidism

Symptoms & Phenotypes for Familial Isolated Hypoparathyroidism

Human phenotypes related to Familial Isolated Hypoparathyroidism:

58 31 (show all 14)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
2 nephropathy 58 31 hallmark (90%) Very frequent (99-80%) HP:0000112
3 myopathy 58 31 hallmark (90%) Very frequent (99-80%) HP:0003198
4 hypoparathyroidism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000829
5 hypocalcemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002901
6 seizure 31 hallmark (90%) HP:0001250
7 abnormal calcium-phosphate regulating hormone level 31 hallmark (90%) HP:0100530
8 cataract 58 31 frequent (33%) Frequent (79-30%) HP:0000518
9 arrhythmia 58 31 frequent (33%) Frequent (79-30%) HP:0011675
10 delayed eruption of teeth 58 31 frequent (33%) Frequent (79-30%) HP:0000684
11 abnormality of dental enamel 58 31 frequent (33%) Frequent (79-30%) HP:0000682
12 cerebral calcification 58 31 frequent (33%) Frequent (79-30%) HP:0002514
13 seizures 58 Very frequent (99-80%)
14 abnormality of calcium-phosphate metabolism 58 Very frequent (99-80%)

MGI Mouse Phenotypes related to Familial Isolated Hypoparathyroidism:

45 (show all 13)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.29 ARNT CASR EGLN1 EGLN2 EGLN3 EP300
2 cardiovascular system MP:0005385 10.26 ARNT ASB4 EGLN1 EGLN2 EGLN3 EP300
3 homeostasis/metabolism MP:0005376 10.22 ARNT ASB4 CASR EGLN1 EGLN2 EGLN3
4 embryo MP:0005380 10.18 ARNT ASB4 CASR EGLN1 EGLN2 EGLN3
5 hematopoietic system MP:0005397 10.17 ARNT ASB4 CASR EGLN1 EGLN2 EGLN3
6 endocrine/exocrine gland MP:0005379 10.16 ARNT ASB4 CASR EGLN3 EP300 GCM2
7 craniofacial MP:0005382 10.15 ARNT EGLN1 EGLN2 EGLN3 EP300 GCM2
8 immune system MP:0005387 10.11 ARNT ASB4 CASR EGLN1 EGLN2 EGLN3
9 integument MP:0010771 9.97 ARNT ASB4 CASR EGLN1 EGLN2 EGLN3
10 muscle MP:0005369 9.81 CASR EGLN1 EGLN2 EGLN3 EP300 HIF1A
11 liver/biliary system MP:0005370 9.8 ARNT EGLN1 EGLN2 EGLN3 HIF1A HIF1AN
12 normal MP:0002873 9.56 ARNT EGLN3 EP300 GCM2 HIF1A HIF1AN
13 renal/urinary system MP:0005367 9.23 ARNT ASB4 CASR EGLN1 EP300 GCM2

Drugs & Therapeutics for Familial Isolated Hypoparathyroidism

Search Clinical Trials , NIH Clinical Center for Familial Isolated Hypoparathyroidism

Genetic Tests for Familial Isolated Hypoparathyroidism

Genetic tests related to Familial Isolated Hypoparathyroidism:

# Genetic test Affiliating Genes
1 Familial Isolated Hypoparathyroidism 29 PTH

Anatomical Context for Familial Isolated Hypoparathyroidism

MalaCards organs/tissues related to Familial Isolated Hypoparathyroidism:

40
Eye

Publications for Familial Isolated Hypoparathyroidism

Articles related to Familial Isolated Hypoparathyroidism:

(show all 23)
# Title Authors PMID Year
1
Signal sequence mutation in autosomal dominant form of hypoparathyroidism induces apoptosis that is corrected by a chemical chaperone. 6 61
18056632 2007
2
A novel mutation of the signal peptide of the preproparathyroid hormone gene associated with autosomal recessive familial isolated hypoparathyroidism. 61 6
10523031 1999
3
Mutation of the signal peptide-encoding region of the preproparathyroid hormone gene in familial isolated hypoparathyroidism. 61 6
2212001 1990
4
Familial isolated hypoparathyroidism: a molecular genetic analysis of 8 families with 23 affected persons. 6 61
3005800 1986
5
Autosomal dominant hypoparathyroidism: a proband with concurrent nephrogenic diabetes insipidus. 6 61
6278146 1981
6
Autosomal dominant hypoparathyroidism caused by germline mutation in GNA11: phenotypic and molecular characterization. 6
24823460 2014
7
Germline mutations affecting Gα11 in hypoparathyroidism. 6
23802536 2013
8
Mutations affecting G-protein subunit α11 in hypercalcemia and hypocalcemia. 6
23802516 2013
9
A donor splice site mutation in the parathyroid hormone gene is associated with autosomal recessive hypoparathyroidism. 6
1302009 1992
10
Autosomal Dominant PTH Gene Signal Sequence Mutation in a Family With Familial Isolated Hypoparathyroidism. 61
28938448 2017
11
Recombinant human parathyroid hormone therapy (1-34) in an adult patient with a gain-of-function mutation in the calcium-sensing receptor-a case report. 61
23186954 2013
12
Identification of rare and frequent variants of the CASR gene by high-resolution melting. 61
22192860 2012
13
Autosomal dominant hypocalcemia caused by an activating mutation of the calcium-sensing receptor gene: the first case report in Korea. 61
20119591 2010
14
Glial cells missing-2 (GCM2) transactivates the calcium-sensing receptor gene: effect of a dominant-negative GCM2 mutant associated with autosomal dominant hypoparathyroidism. 61
18712808 2009
15
[Familial isolated hypoparathyroidism]. 61
16817346 2006
16
Identification of a novel mutation disrupting the DNA binding activity of GCM2 in autosomal recessive familial isolated hypoparathyroidism. 61
15863676 2005
17
GCMB mutation in familial isolated hypoparathyroidism with residual secretion of parathyroid hormone. 61
15728199 2005
18
Familial isolated hypoparathyroidism caused by a mutation in the gene for the transcription factor GCMB. 61
11602629 2001
19
Lack of mutations of preproparathyroid hormone gene in three kindreds with familial isolated hypoparathyroidism. 61
9152631 1997
20
Familial isolated hypoparathyroidism: case report with serum PTHrP examination. 61
8980898 1996
21
[Idiopathic hypoparathyroidism (isolated)]. 61
7752494 1995
22
Inefficient membrane targeting, translocation, and proteolytic processing by signal peptidase of a mutant preproparathyroid hormone protein. 61
7829495 1995
23
Analysis of the preproPTH gene by denaturing gradient gel electrophoresis in familial isolated hypoparathyroidism. 61
1740484 1992

Variations for Familial Isolated Hypoparathyroidism

ClinVar genetic disease variations for Familial Isolated Hypoparathyroidism:

6 (show top 50) (show all 133) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 GCM2 NM_004752.4(GCM2):c.408C>A (p.Tyr136Ter)SNV Pathogenic 433164 rs1554103179 6:10876726-10876726 6:10876493-10876493
2 PTH NM_000315.4(PTH):c.52T>C (p.Cys18Arg)SNV Pathogenic 13756 rs104894271 11:13514351-13514351 11:13492804-13492804
3 PTH PTH, IVS2DS, G-C, +1, EX2DELdeletion Pathogenic 13757
4 PTH NM_000315.4(PTH):c.67T>C (p.Ser23Pro)SNV Pathogenic 13758 rs104894272 11:13514336-13514336 11:13492789-13492789
5 CASR NM_000388.4(CASR):c.1934C>A (p.Ala645Asp)SNV Likely pathogenic 35785 rs193922430 3:122002735-122002735 3:122283888-122283888
6 CASR NM_000388.4(CASR):c.748G>A (p.Glu250Lys)SNV Conflicting interpretations of pathogenicity 196262 rs62269092 3:121980630-121980630 3:122261783-122261783
7 CASR NM_000388.4(CASR):c.-10C>TSNV Conflicting interpretations of pathogenicity 431803 rs753659949 3:121973027-121973027 3:122254180-122254180
8 CASR NM_000388.4(CASR):c.1188A>G (p.Thr396=)SNV Conflicting interpretations of pathogenicity 237755 rs200312817 3:121981070-121981070 3:122262223-122262223
9 CASR NM_000388.4(CASR):c.1631G>A (p.Arg544Gln)SNV Conflicting interpretations of pathogenicity 237758 rs115230894 3:122000982-122000982 3:122282135-122282135
10 CASR NM_000388.4(CASR):c.1752G>A (p.Lys584=)SNV Conflicting interpretations of pathogenicity 237759 rs138638329 3:122002553-122002553 3:122283706-122283706
11 CASR NM_000388.4(CASR):c.2064C>T (p.Phe688=)SNV Conflicting interpretations of pathogenicity 237762 rs150869744 3:122002865-122002865 3:122284018-122284018
12 CASR NM_000388.4(CASR):c.1733-9A>GSNV Conflicting interpretations of pathogenicity 257606 rs190731787 3:122002525-122002525 3:122283678-122283678
13 CASR NM_000388.4(CASR):c.60C>T (p.Tyr20=)SNV Conflicting interpretations of pathogenicity 285281 rs201564143 3:121973096-121973096 3:122254249-122254249
14 CASR NM_000388.4(CASR):c.1665T>C (p.Ile555=)SNV Conflicting interpretations of pathogenicity 342799 rs201955278 3:122001016-122001016 3:122282169-122282169
15 CASR NM_000388.4(CASR):c.2915C>T (p.Thr972Met)SNV Conflicting interpretations of pathogenicity 342802 rs200620134 3:122003716-122003716 3:122284869-122284869
16 CASR NM_000388.4(CASR):c.3168G>T (p.Val1056=)SNV Conflicting interpretations of pathogenicity 342805 rs886057831 3:122003969-122003969 3:122285122-122285122
17 CASR NM_000388.4(CASR):c.2255G>A (p.Arg752His)SNV Conflicting interpretations of pathogenicity 532595 rs771529256 3:122003056-122003056 3:122284209-122284209
18 CASR NM_000388.4(CASR):c.3234A>T (p.Ser1078=)SNV Conflicting interpretations of pathogenicity 532639 rs556263764 3:122004035-122004035 3:122285188-122285188
19 GCM2 NM_004752.4(GCM2):c.1395C>T (p.His465=)SNV Conflicting interpretations of pathogenicity 717588 6:10874354-10874354 6:10874121-10874121
20 CASR NM_000388.4(CASR):c.108G>A (p.Gly36=)SNV Conflicting interpretations of pathogenicity 744538 3:121973144-121973144 3:122254297-122254297
21 CASR NM_000388.4(CASR):c.2955C>T (p.Asn985=)SNV Conflicting interpretations of pathogenicity 342803 rs199884115 3:122003756-122003756 3:122284909-122284909
22 CASR NM_000388.4(CASR):c.-111C>ASNV Conflicting interpretations of pathogenicity 342794 rs201098532 3:121972926-121972926 3:122254079-122254079
23 CASR NM_000388.4(CASR):c.-154T>ASNV Conflicting interpretations of pathogenicity 342792 rs186365367 3:121972883-121972883 3:122254036-122254036
24 CASR NM_000388.4(CASR):c.6A>C (p.Ala2=)SNV Conflicting interpretations of pathogenicity 342795 rs112042188 3:121973042-121973042 3:122254195-122254195
25 CASR NM_000388.4(CASR):c.930C>T (p.Tyr310=)SNV Conflicting interpretations of pathogenicity 342797 rs201737357 3:121980812-121980812 3:122261965-122261965
26 GCM2 NM_004752.4(GCM2):c.344-7T>CSNV Conflicting interpretations of pathogenicity 355016 rs184620420 6:10876797-10876797 6:10876564-10876564
27 GCM2 NM_004752.4(GCM2):c.156C>T (p.Ser52=)SNV Conflicting interpretations of pathogenicity 355020 rs147096473 6:10877560-10877560 6:10877327-10877327
28 GCM2 NM_004752.4(GCM2):c.90+12G>CSNV Uncertain significance 355022 rs772701925 6:10881925-10881925 6:10881692-10881692
29 GCM2 NM_004752.4(GCM2):c.1431T>A (p.Thr477=)SNV Uncertain significance 355006 rs780587572 6:10874318-10874318 6:10874085-10874085
30 GCM2 NM_004752.4(GCM2):c.1364G>A (p.Arg455Gln)SNV Uncertain significance 355007 rs145103332 6:10874385-10874385 6:10874152-10874152
31 GCM2 NM_004752.4(GCM2):c.*746A>GSNV Uncertain significance 354994 rs886060975 6:10873482-10873482 6:10873249-10873249
32 GCM2 NM_004752.4(GCM2):c.*50G>ASNV Uncertain significance 355005 rs746217594 6:10874178-10874178 6:10873945-10873945
33 GCM2 NM_004752.4(GCM2):c.344-12T>CSNV Uncertain significance 355017 rs377314144 6:10876802-10876802 6:10876569-10876569
34 PTH NM_000315.4(PTH):c.*55C>TSNV Uncertain significance 303701 rs780806029 11:13513897-13513897 11:13492350-13492350
35 PTH NM_000315.4(PTH):c.-33C>TSNV Uncertain significance 303705 rs745726399 11:13517485-13517485 11:13495938-13495938
36 PTH NM_000315.4(PTH):c.-83T>CSNV Uncertain significance 303706 rs886048030 11:13517535-13517535 11:13495988-13495988
37 GCM2 NM_004752.4(GCM2):c.265C>G (p.Gln89Glu)SNV Uncertain significance 355018 rs886060981 6:10877451-10877451 6:10877218-10877218
38 CASR NM_000388.4(CASR):c.*1197C>GSNV Uncertain significance 342819 rs886057836 3:122005235-122005235 3:122286388-122286388
39 GCM2 NM_004752.4(GCM2):c.457-10G>ASNV Uncertain significance 355015 rs369032326 6:10876259-10876259 6:10876026-10876026
40 GCM2 NM_004752.4(GCM2):c.*649T>CSNV Uncertain significance 354997 rs886060977 6:10873579-10873579 6:10873346-10873346
41 GCM2 NM_004752.4(GCM2):c.*630T>ASNV Uncertain significance 354999 rs886060978 6:10873598-10873598 6:10873365-10873365
42 GCM2 NM_004752.4(GCM2):c.*611T>CSNV Uncertain significance 355000 rs886060979 6:10873617-10873617 6:10873384-10873384
43 GCM2 NM_004752.4(GCM2):c.116G>A (p.Arg39Gln)SNV Uncertain significance 355021 rs534895356 6:10877600-10877600 6:10877367-10877367
44 GCM2 NM_004752.4(GCM2):c.*717C>TSNV Uncertain significance 354996 rs886060976 6:10873511-10873511 6:10873278-10873278
45 GCM2 NM_004752.4(GCM2):c.*521C>TSNV Uncertain significance 355002 rs6936637 6:10873707-10873707 6:10873474-10873474
46 GCM2 NM_004752.4(GCM2):c.961G>A (p.Glu321Lys)SNV Uncertain significance 355010 rs886060980 6:10874788-10874788 6:10874555-10874555
47 CASR NM_000388.4(CASR):c.-137C>ASNV Uncertain significance 342793 rs201074178 3:121972900-121972900 3:122254053-122254053
48 CASR NM_000388.4(CASR):c.*625G>ASNV Uncertain significance 342811 rs886057833 3:122004663-122004663 3:122285816-122285816
49 CASR NM_000388.4(CASR):c.*640G>TSNV Uncertain significance 342812 rs201855028 3:122004678-122004678 3:122285831-122285831
50 CASR NM_000388.4(CASR):c.*790T>CSNV Uncertain significance 342813 rs886057834 3:122004828-122004828 3:122285981-122285981

Expression for Familial Isolated Hypoparathyroidism

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

Pathways for Familial Isolated Hypoparathyroidism

Pathways related to Familial Isolated Hypoparathyroidism according to GeneCards Suite gene sharing:

(show all 17)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.06 VHL HIF1AN HIF1A EP300 EGLN3 EGLN2
2 12.76 VHL HIF1A EP300 EGLN3 EGLN2 EGLN1
3
Show member pathways
12.5 VHL HIF1A EP300 EGLN3 EGLN2 EGLN1
4 12.12 HIF1AN HIF1A EGLN1 ARNT
5 11.78 HIF1AN HIF1A EP300 EGLN1 ARNT
6 11.77 PTH GCM2 CASR
7 11.74 VHL HIF1A EP300 EGLN3 EGLN2 EGLN1
8
Show member pathways
11.7 VHL HIF1A ARNT
9 11.58 HIF1A EP300 EGLN3 EGLN1 ARNT
10
Show member pathways
11.57 HIF1A EP300 ARNT
11 11.38 HIF1A EP300 ARNT
12 11.33 HIF1AN HIF1A EGLN1 ARNT
13 11.23 VHL HIF1AN HIF1A EP300 EGLN2 EGLN1
14
Show member pathways
11.21 HIF1AN HIF1A EP300 EGLN3 ARNT
15 10.8 VHL HIF1AN HIF1A ARNT
16 10.7 VHL HIF1AN EP300 EGLN3 EGLN2 EGLN1
17 10.61 MIR31 HIF1AN HIF1A

GO Terms for Familial Isolated Hypoparathyroidism

Cellular components related to Familial Isolated Hypoparathyroidism according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 9.8 VHL KDM4E KDM4C KDM4A HIF1AN HIF1A
2 histone methyltransferase complex GO:0035097 8.8 KDM4E KDM4C KDM4A

Biological processes related to Familial Isolated Hypoparathyroidism according to GeneCards Suite gene sharing:

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 chromatin remodeling GO:0006338 9.73 KDM4E KDM4C KDM4A
2 cellular calcium ion homeostasis GO:0006874 9.72 PTH GCM2 CASR
3 cellular response to hypoxia GO:0071456 9.65 HIF1A EGLN3 EGLN2 EGLN1 CASR
4 response to hypoxia GO:0001666 9.63 HIF1A EP300 EGLN3 EGLN2 EGLN1 ARNT
5 oxidation-reduction process GO:0055114 9.61 TYW5 KDM4E KDM4C KDM4A JMJD4 HIF1AN
6 positive regulation of vascular endothelial growth factor receptor signaling pathway GO:0030949 9.58 HIF1A ARNT
7 mRNA transcription by RNA polymerase II GO:0042789 9.57 HIF1A ARNT
8 positive regulation of vasculogenesis GO:2001214 9.54 HIF1AN ASB4
9 histone H3-K9 demethylation GO:0033169 9.54 KDM4E KDM4C KDM4A
10 histone H3-K36 demethylation GO:0070544 9.52 KDM4C KDM4A
11 response to fibroblast growth factor GO:0071774 9.51 PTH CASR
12 peptidyl-proline hydroxylation to 4-hydroxy-L-proline GO:0018401 9.5 EGLN3 EGLN2 EGLN1
13 oxygen homeostasis GO:0032364 9.49 HIF1A EGLN1
14 regulation of transcription from RNA polymerase II promoter in response to oxidative stress GO:0043619 9.48 HIF1A ARNT
15 protein hydroxylation GO:0018126 9.46 JMJD4 EGLN3
16 negative regulation of transcription from RNA polymerase II promoter in response to hypoxia GO:0061428 9.43 VHL HIF1AN
17 positive regulation of hormone biosynthetic process GO:0046886 9.4 HIF1A ARNT
18 regulation of transcription from RNA polymerase II promoter in response to hypoxia GO:0061418 9.23 VHL HIF1AN HIF1A EP300 EGLN3 EGLN2

Molecular functions related to Familial Isolated Hypoparathyroidism according to GeneCards Suite gene sharing:

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 metal ion binding GO:0046872 10.29 TYW5 KDM4E KDM4C KDM4A JMJD4 HIF1AN
2 enzyme binding GO:0019899 9.92 VHL KDM4C HIF1A EGLN1 ASB4
3 oxidoreductase activity GO:0016491 9.81 TYW5 KDM4E KDM4C KDM4A JMJD4 HIF1AN
4 iron ion binding GO:0005506 9.8 TYW5 HIF1AN EGLN3 EGLN2 EGLN1
5 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen GO:0016705 9.72 EGLN3 EGLN2 EGLN1
6 L-ascorbic acid binding GO:0031418 9.67 EGLN3 EGLN2 EGLN1
7 ferrous iron binding GO:0008198 9.67 HIF1AN EGLN3 EGLN2 EGLN1
8 histone demethylase activity GO:0032452 9.63 KDM4E KDM4C KDM4A
9 histone demethylase activity (H3-K9 specific) GO:0032454 9.61 KDM4E KDM4C KDM4A
10 histone demethylase activity (H3-K36 specific) GO:0051864 9.54 KDM4C KDM4A
11 oxygen sensor activity GO:0019826 9.51 HIF1AN EGLN2
12 peptidyl-proline dioxygenase activity GO:0031543 9.5 EGLN3 EGLN2 EGLN1
13 peptidyl-proline 4-dioxygenase activity GO:0031545 9.43 EGLN3 EGLN2 EGLN1
14 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors GO:0016706 9.43 TYW5 JMJD4 HIF1AN EGLN3 EGLN2 EGLN1
15 dioxygenase activity GO:0051213 9.28 TYW5 KDM4E KDM4C KDM4A JMJD4 HIF1AN

Sources for Familial Isolated Hypoparathyroidism

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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