FIH1
MCID: HYP864
MIFTS: 48

Hypoparathyroidism, Familial Isolated, 1 (FIH1)

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

Aliases & Classifications for Hypoparathyroidism, Familial Isolated, 1

MalaCards integrated aliases for Hypoparathyroidism, Familial Isolated, 1:

Name: Hypoparathyroidism, Familial Isolated, 1 56
Hypoparathyroidism, Familial Isolated 73 39
Familial Isolated Hypoparathyroidism Due to Impaired Pth Secretion 58
Hypoparathyroidism, Familial Isolated 1 56
Hypoparathyroidism, Autosomal Recessive 29
Autosomal Recessive Hypoparathyroidism 73
Autosomal Dominant Hypoparathyroidism 73
Hypoparathyroidism 43
Fih1 56
Fih 73

Characteristics:

Orphanet epidemiological data:

58
familial isolated hypoparathyroidism due to impaired pth secretion
Inheritance: Autosomal dominant,Autosomal recessive;

OMIM:

56
Inheritance:
autosomal recessive
autosomal dominant


HPO:

31
hypoparathyroidism, familial isolated, 1:
Inheritance autosomal dominant inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare eye diseases
Rare endocrine diseases


Summaries for Hypoparathyroidism, Familial Isolated, 1

OMIM : 56 Garfield and Karaplis (2001) reviewed the various causes and clinical forms of hypoparathyroidism. They noted that hypoparathyroidism is a clinical disorder characterized by hypocalcemia and hyperphosphatemia. It manifests when parathyroid hormone (PTH; 168450) secreted from the parathyroid glands is insufficient to maintain normal extracellular fluid calcium concentrations or, less commonly, when PTH is unable to function optimally in target tissues, despite adequate circulating levels. (146200)

MalaCards based summary : Hypoparathyroidism, Familial Isolated, 1, also known as hypoparathyroidism, familial isolated, is related to hypoparathyroidism, sensorineural deafness, and renal disease and hypoparathyroidism-retardation-dysmorphism syndrome. An important gene associated with Hypoparathyroidism, Familial Isolated, 1 is PTH (Parathyroid Hormone), and among its related pathways/superpathways is Parathyroid hormone synthesis, secretion and action. The drugs Betamethasone and Calcium carbonate have been mentioned in the context of this disorder. Affiliated tissues include thyroid, bone and lymph node, and related phenotypes are cataract and tetany

UniProtKB/Swiss-Prot : 73 Hypoparathyroidism, familial isolated: A disorder characterized by hypocalcemia and hyperphosphatemia due to inadequate secretion of parathyroid hormone. Clinical features include seizures, tetany and cramps.

Related Diseases for Hypoparathyroidism, Familial Isolated, 1

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 Hypoparathyroidism, Familial Isolated, 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 584)
# Related Disease Score Top Affiliating Genes
1 hypoparathyroidism, sensorineural deafness, and renal disease 33.6 PTH GCM2
2 hypoparathyroidism-retardation-dysmorphism syndrome 33.6 PTH GCM2
3 hypoparathyroidism 33.3 PTH GCM2 AIRE
4 hypocalcemia, autosomal dominant 1 32.8 PTH GCM2
5 familial isolated hypoparathyroidism 32.4 PTH GCM2
6 digeorge syndrome 31.3 PTH GCM2 AIRE
7 hyperphosphatemia 30.3 PTH GCM2
8 hyperparathyroidism 30.1 PTH GCM2
9 primary hyperparathyroidism 29.8 PTH GCM2
10 celiac disease 1 29.7 PTH AIRE
11 parathyroid adenoma 29.4 PTH GCM2
12 familial hypocalciuric hypercalcemia 29.1 PTH GCM2
13 diabetes mellitus, type i 29.0 PTH AIRE
14 parathyroid gland disease 28.3 PTH GCM2 AIRE
15 hypoparathyroidism, x-linked 12.7
16 hypoparathyroidism-intellectual disability-dysmorphism syndrome 12.6
17 lymphedema-hypoparathyroidism syndrome 12.6
18 autoimmune hypoparathyroidism 12.5
19 rare hypoparathyroidism 12.4
20 autoimmune polyendocrine syndrome, type i, with or without reversible metaphyseal dysplasia 12.4
21 secondary hypoparathyroidism due to impaired parathormon secretion 12.3
22 familial isolated hypoparathyroidism due to agenesis of parathyroid gland 12.3
23 genetic hypoparathyroidism 12.3
24 pseudohypoparathyroidism 11.8
25 pseudopseudohypoparathyroidism 11.7
26 kenny-caffey syndrome, type 1 11.6
27 kearns-sayre syndrome 11.5
28 pseudohypoparathyroidism, type ic 11.5
29 kenny-caffey syndrome, type 2 11.5
30 primary hypomagnesemia 11.5
31 ossification of the posterior longitudinal ligament of spine 11.4
32 hypoparathyroidism, familial isolated, 2 11.3
33 basal ganglia calcification, idiopathic, childhood-onset 11.1
34 vertebral anomalies and variable endocrine and t-cell dysfunction 11.1
35 isolated elevated serum creatine phosphokinase levels 11.1
36 pseudohypoparathyroidism, type ia 10.8
37 pseudohypoparathyroidism, type ib 10.6
38 branchiootic syndrome 1 10.6
39 hypothyroidism 10.6
40 basal ganglia calcification 10.5
41 thyroid carcinoma 10.5
42 cataract 10.5
43 renal dysplasia 10.5
44 seizure disorder 10.5
45 visual epilepsy 10.5
46 rickets 10.5
47 graves' disease 10.5
48 candidiasis 10.4
49 goiter 10.4
50 nephrocalcinosis 10.4

Graphical network of the top 20 diseases related to Hypoparathyroidism, Familial Isolated, 1:



Diseases related to Hypoparathyroidism, Familial Isolated, 1

Symptoms & Phenotypes for Hypoparathyroidism, Familial Isolated, 1

Human phenotypes related to Hypoparathyroidism, Familial Isolated, 1:

31 (show all 8)
# Description HPO Frequency HPO Source Accession
1 cataract 31 HP:0000518
2 tetany 31 HP:0001281
3 hypoparathyroidism 31 HP:0000829
4 hypocalcemia 31 HP:0002901
5 cerebral calcification 31 HP:0002514
6 hyperphosphatemia 31 HP:0002905
7 seizure 31 HP:0001250
8 decreased circulating parathyroid hormone level 31 HP:0031817

Symptoms via clinical synopsis from OMIM:

56
Endocrine Features:
hypoparathyroidism

Head And Neck Eyes:
cataracts

Laboratory Abnormalities:
hypocalcemia
hyperphosphatemia
no circulating antibodies to parathyroid hormone
undetectable or subnormal plasma immunoreactive pth

Clinical features from OMIM:

146200

MGI Mouse Phenotypes related to Hypoparathyroidism, Familial Isolated, 1:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 8.8 AIRE GCM2 PTH

Drugs & Therapeutics for Hypoparathyroidism, Familial Isolated, 1

Drugs for Hypoparathyroidism, Familial Isolated, 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 106)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Betamethasone Approved, Vet_approved Phase 4 378-44-9 9782
2
Calcium carbonate Approved, Investigational Phase 4 471-34-1
3
Sodium citrate Approved, Investigational Phase 4 68-04-2
4
Parathyroid hormone Approved, Investigational Phase 4 9002-64-6
5
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 4 1177-87-3
6
Dexamethasone Approved, Investigational, Vet_approved Phase 4 50-02-2 5743
7
Citric acid Approved, Nutraceutical, Vet_approved Phase 4 77-92-9 311
8
Ergocalciferol Approved, Nutraceutical Phase 4 50-14-6 5280793
9
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4 1406-16-2
10
Calcifediol Approved, Nutraceutical Phase 4 19356-17-3 5283731 6433735
11 Respiratory System Agents Phase 4
12 Anti-Asthmatic Agents Phase 4
13 Betamethasone acetate Phase 4
14 Antacids Phase 4
15 Anti-Ulcer Agents Phase 4
16 Citrate Phase 4
17 Ergocalciferols Phase 4
18 Vitamin D2 Phase 4
19 Pharmaceutical Solutions Phase 4
20 Lugol's solution Phase 4
21 Calcium Supplement Phase 4
22 Hormone Antagonists Phase 4
23 Calcium, Dietary Phase 4
24 Hormones Phase 4
25 Vitamins Phase 4
26 Calciferol Phase 4
27 Hydroxycholecalciferols Phase 4
28 Gastrointestinal Agents Phase 4
29 glucocorticoids Phase 4
30 Anti-Inflammatory Agents Phase 4
31 Anesthetics Phase 4
32 BB 1101 Phase 4
33 Antineoplastic Agents, Hormonal Phase 4
34 Antiemetics Phase 4
35
protease inhibitors Phase 4
36 HIV Protease Inhibitors Phase 4
37
Calcium Nutraceutical Phase 4 7440-70-2 271
38
Teriparatide Approved, Investigational Phase 2, Phase 3 52232-67-4 16133850
39
Progesterone Approved, Vet_approved Phase 3 57-83-0 5994
40
Vitamin D3 Approved, Nutraceutical Phase 3 67-97-0 5280795 6221
41 Hemostatics Phase 3
42 Trace Elements Phase 3
43 Micronutrients Phase 3
44 Nutrients Phase 3
45 17 alpha-Hydroxyprogesterone Caproate Phase 3
46 11-hydroxyprogesterone Phase 3
47 Progestins Phase 3
48
Clotrimazole Approved, Vet_approved Phase 1, Phase 2 23593-75-1 2812
49
Miconazole Approved, Investigational, Vet_approved Phase 1, Phase 2 22916-47-8 4189
50
Methylprednisolone Approved, Vet_approved Phase 1, Phase 2 83-43-2 6741

Interventional clinical trials:

(show top 50) (show all 113)
# Name Status NCT ID Phase Drugs
1 Evaluation of Potential Benefits of Using Steroids in the Postoperative Transient Hypoparathyroidism Total Thyroidectomy Unknown status NCT02652884 Phase 4 phosphate and betamethasone acetate, 2 mL.;saline 0.9% NaCl
2 Correction of Vitamin D Deficiency to Prevent Postoperative Hypocalcemia After Thyroidectomy Unknown status NCT01632514 Phase 4 Cholecalciferol
3 A Phase 4, Open-Label, Single-Center Clinical Study of Extended Use of rhPTH(1-84) in Hypoparathyroidism Completed NCT02910466 Phase 4 rhPTH(1-84)
4 CALCIUM CITRATE vs CALCIUM CARBONATE FOR THE MANAGEMENT OF CHRONIC HYPOPARATHYROIDISM Completed NCT03425747 Phase 4 Calcium Carbonate;Calcium Citrate
5 Diagnostic Accuracy Study of Indocyanine Green for Parathyroid Perfusion Assessment Completed NCT03969108 Phase 4 Indocyanine Green
6 Does Treatment of Hypovitaminosis D Increase Calcium Absorption? Completed NCT00581828 Phase 4 Vitamin D
7 Determination of Parathyroid Function by Fluorescence With Indocyanine Green (ICG) After Total Thyroidectomy Recruiting NCT04012476 Phase 4 Indocyanine Green
8 Randomized Clinical Trial, Blinded for the Researcher and Multicenter, to Evaluate the Efficacy and Safety of Preoperative Preparation With Lugol Solution in Euthyroid Patients With Graves-Basedow Disease. Recruiting NCT03980132 Phase 4 Lugols Strong Iodine
9 A Randomized, Double-blind, Placebo-controlled, Adaptive Study to Evaluate Symptom Improvement and Metabolic Control Among Adult Subjects With Symptomatic Hypoparathyroidism Treated With Recombinant Human Parathyroid Hormone [rhPTH(1-84)] Active, not recruiting NCT03324880 Phase 4
10 The Impact of Preoperative Oral Dexamethasone Supplementation on the Biochemical Parameters and Results of Surgical Treatment in Patients With Nontoxic Multinodular Goiter Undergoing Total Thyroidectomy. Not yet recruiting NCT04412694 Phase 4 Dexamethasone oral tablet 8mg (Dexamethasone Krka tablets(8mg), Warsaw, Poland).;Placebo oral sweetener (Clio tablets, sweetener with a dispenser, Instantina GES, Vienna, Austria).
11 Medico-economic Evaluation Comparing the Use of Ultrasonic Scissors to the Conventional Techniques of Haemostasis in Thyroid Surgery by Cervicotomy Unknown status NCT01551914 Phase 3
12 Comparison of Total Parathyroidectomy With Autotransplantation Versus Total Parathyroidectomy Without Autotransplantation:A Randomized Clinical Trial Unknown status NCT02536287 Phase 3
13 A Long-term Open-label Study Investigating the Safety and Tolerability of NPSP558, a Recombinant Human Parathyroid Hormone (rhPTH[1-84]), for the Treatment of Adults With Hypoparathyroidism - A Clinical Extension Study (RACE) Completed NCT01297309 Phase 3 NPSP558
14 A Randomized, Double-Blind, Placebo-Controlled, Phase 3 Study to Investigate the Use of NPSP558, a Recombinant Human Parathyroid Hormone (rhPTH[1-84]) for the Treatment of Adults With Hypoparathyroidism Completed NCT00732615 Phase 3 Placebo;NPSP558
15 A 6-Month Open-label Study Investigating the Safety and Tolerability of NPSP558, a Recombinant Human Parathyroid Hormone (rhPTH [1-84]), for the Treatment of Adults With Hypoparathyroidism - A Clinical Extension Study Completed NCT01455181 Phase 3 NPSP558
16 A Randomized, Dose-blinded Study to Investigate the Safety and Efficacy of NPSP558, a Recombinant Human Parathyroid Hormone [rhPTH(1-84)], at Fixed Doses of 25 µg and 50 µg for the Treatment of Adults With Hypoparathyroidism Completed NCT01268098 Phase 3 NPSP558
17 Bone Properties in Hypoparathyroidism: Effects of PTH Completed NCT00473265 Phase 2, Phase 3 PTH
18 An Open-label Study Investigating the Safety and Efficacy of rhPTH(1-84) in Subjects With Hypoparathyroidism Active, not recruiting NCT03364738 Phase 3
19 HEXT: The Hypoparathyroidism Studies, EXTended: The Effect of PTH on the Skeleton in Hypoparathyroidism Active, not recruiting NCT01199614 Phase 3 open-label PTH(1-84)
20 Phase II Trial of Parathyroid Hormone for the Treatment of Hypoparathyroidism Active, not recruiting NCT00856401 Phase 3 PTH1-84 in parent study
21 Randomized Controlled Trial of Neo-adjuvant Progesterone and Vitamin D3 in Women With Large Operable Breast Cancer and Locally Advanced Breast Cancer. Active, not recruiting NCT01608451 Phase 3 Cholecalciferol;Inj. Progesterone
22 A Phase 3, Open-label Clinical Study of rhPTH(1-84) Treatment in Japanese Subjects With Chronic Hypoparathyroidism Not yet recruiting NCT03878953 Phase 3 rhPTH(1-84)
23 Effects of PTH Replacement on Bone in Hypoparathyroidism Terminated NCT00395538 Phase 3 PTH 1-34
24 A Pilot Study to Assess the Safety and Efficacy of Oral PTH (1-34) in the Treatment of Hypoparathyroidism Completed NCT02152228 Phase 2 EnteraBio's Oral Parathyroid Hormone (1-34)
25 An Evaluation of the Pharmacokinetics and Pharmacodynamics of Oral Parathyroid Hormone [PTH (1-34)] and NATPARA® in Patients With Hypoparathyroidism Completed NCT03516773 Phase 2 EB612 (EBP05);NATPARA/NATPAR
26 Treatment of Hypoparathyroidism With Synthetic Human Parathyroid Hormone 1-34 Completed NCT00001304 Phase 2 Synthetic Human Parathyroid Hormone 1-34;Calcitriol & Calcium
27 Treatment of Hypoparathyroidism With Subcutaneous PTH (1-84) Injections: Effects on Muscle Function and Quality of Life Completed NCT00730210 Phase 2 a: PTH (1-84);b:placebo
28 Open-label Dose Escalation Study Evaluating the Safety, Tolerability, Pharmacodynamics and Pharmacokinetics of Intravenous NPSP795 in Autosomal Dominant Hypocalcemia Due to Mutations in the Calcium-sensing Receptor Gene: A Drug Repurposing Study Completed NCT02204579 Phase 2 NPSP795
29 Dose Study of Thymus Transplantation in DiGeorge Anomaly, IND 9836, #932.1 Completed NCT00576836 Phase 2
30 Phase I/II Trial of Thymus Transplantation With Immunosuppression, #950 Completed NCT00579527 Phase 1, Phase 2 Rabbit anti-thymocyte globulin;Cyclosporine;Tacrolimus;Methylprednisolone or Prednisolone;Daclizumab;Mycophenolate mofetil
31 Development of a Clinical Protocol to Use Intra-operative Near Infra-red Fluorescent Imaging in Thyroid and Parathyroid Surgery Completed NCT02089542 Phase 1, Phase 2
32 A Randomized, Two Phase, Adaptive Then Crossover Open-label, Study Comparing Amorphous Calcium Carbonate (ACC) Supplement Versus Commercially Available Crystalline Calcium Supplements (CCS) in the Management of Primary Hypoparathyroidism. Completed NCT01815021 Phase 1, Phase 2
33 Randomized Controlled Trial of Total Thyroidectomy With and Without Prophylactic Central Neck Lymph Node Dissection in Patients With Low-risk Papillary Thyroid Cancer Completed NCT02408887 Phase 2
34 A Randomized Crossover TrIal to Compare Recombinant Human rhPTH(1-34) to the ASsociation Alfacalcidol/Hydrochlorothiazide in the Treatment of Severe Primary Hypoparathyroidism Recruiting NCT02824718 Phase 2 Teriparatide;Thiazide;Potassium sparing diuretic;Alfacalcidol
35 PaTH Forward: A Phase 2, Multicenter, Randomized, Double-Blind, Placebo-Controlled, Parallel Group Trial With an Open-Label Extension, Investigating the Safety, Tolerability and Efficacy of TransCon PTH Administered Subcutaneously Daily in Adults With Hypoparathyroidism Active, not recruiting NCT04009291 Phase 2
36 Subcutaneous Injection of Sodium Thiosulfate for Ectopic Calcifications or Ossifications. A Pilot Study Suspended NCT03582800 Phase 2 STS
37 Pilot Study of Teriparatide for Postsurgical Hypoparathyroidism Terminated NCT01171690 Phase 2 Teriparatide
38 Effect of Denosumab in Reversing Periprosthetic Bone Loss Following Hip Replacement Unknown status NCT02444585 Phase 1 Denosumab
39 A Phase 1, Open-label, Randomized, Cross-over Study to Evaluate the Pharmacokinetics, Safety, and Tolerability of a Single Dose of rhPTH(1-84) Administered Subcutaneously in Japanese Healthy Subjects Compared With Matched Non-Hispanic, Caucasian Healthy Adult Subjects and to Assess Dose Proportionality of 3 Doses of rhPTH(1-84) in the Japanese Subjects Completed NCT03150108 Phase 1 rhPTH(1-84);rhPTH(1-84);rhPTH(1-84)
40 An Open-Label, Randomized, Crossover Study to Assess the Pharmacokinetic and Pharmacodynamic Profiles of Once Daily and Twice Daily Dose Regimens of Recombinant Human Parathyroid Hormone (rhPTH[1-84]) Administered Subcutaneously to Subjects With Hypoparathyroidism Completed NCT02781844 Phase 1 25mcg rhPTH(1-84);50mcg rhPTH(1-84);100mcg rhPTH(1-84)
41 Parathyroid and Thymus Transplantation in DiGeorge Syndrome, #931 Completed NCT00566488 Phase 1
42 A Randomized, Double-Blind, Multiple Ascending Oral Dose Study to Evaluate the Safety, Tolerability, Pharmacokinetics and Pharmacodynamics of PCO371 in Patients With Hypoparathyroidism Recruiting NCT04209179 Phase 1 PCO371;Placebo
43 Preoperative Vitamin D Levels as a Prognostic Factor for Postoperative Hypocalcemia and Hypoparathyroidism After Total Thyroidectomy Unknown status NCT01039714
44 Study on Application of Suturing Parathyroid Markers in Thyroid Cancer Surgery Unknown status NCT03514251
45 Corticosteroid Rhythms in Hypoparathyroid Patients Unknown status NCT02986607 Early Phase 1 parathyroid hormon 1-84
46 Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology Unknown status NCT02906748
47 The Effectiveness of an Oxidized Cellulose Patch Hemostatic Agent in Thyroid Surgery: a Prospective Randomized Controlled Study Unknown status NCT01756534
48 Comparative Analysis Between A Bipolar Vessel Sealing and Cutting Device and the Tie and Suture Technique in Thyroidectomy: A Two Institution Randomized Clinical Trial Unknown status NCT02140476
49 the Study on Difference Prognostic for Low Parathyroid Hormone Levels and Severe Secondary Hyperparathyroidism in Hemodialysis Patients Unknown status NCT03194087
50 The Efficacy and Safety of Microwave Ablation for Mild-to-moderate Secondary Hyperparathyroidism Patients Undergoing Hemodialysis Unknown status NCT02332135 active vitamin D

Search NIH Clinical Center for Hypoparathyroidism, Familial Isolated, 1

Cochrane evidence based reviews: hypoparathyroidism

Genetic Tests for Hypoparathyroidism, Familial Isolated, 1

Genetic tests related to Hypoparathyroidism, Familial Isolated, 1:

# Genetic test Affiliating Genes
1 Hypoparathyroidism, Autosomal Recessive 29

Anatomical Context for Hypoparathyroidism, Familial Isolated, 1

MalaCards organs/tissues related to Hypoparathyroidism, Familial Isolated, 1:

40
Thyroid, Bone, Lymph Node, Breast, Thymus, Liver, Kidney

Publications for Hypoparathyroidism, Familial Isolated, 1

Articles related to Hypoparathyroidism, Familial Isolated, 1:

(show all 42)
# Title Authors PMID Year
1
Signal sequence mutation in autosomal dominant form of hypoparathyroidism induces apoptosis that is corrected by a chemical chaperone. 6 56
18056632 2007
2
A novel mutation of the signal peptide of the preproparathyroid hormone gene associated with autosomal recessive familial isolated hypoparathyroidism. 56 6
10523031 1999
3
A donor splice site mutation in the parathyroid hormone gene is associated with autosomal recessive hypoparathyroidism. 6 56
1302009 1992
4
Mutation of the signal peptide-encoding region of the preproparathyroid hormone gene in familial isolated hypoparathyroidism. 6 56
2212001 1990
5
Familial isolated hypoparathyroidism: a molecular genetic analysis of 8 families with 23 affected persons. 6 56
3005800 1986
6
Long-term treatment of hypoparathyroidism: a randomized controlled study comparing parathyroid hormone-(1-34) versus calcitriol and calcium. 56
12970289 2003
7
Genetics and animal models of hypoparathyroidism. 56
11504667 2001
8
Idiopathic hypoparathyroidism in two patients with 22q11 microdeletion. 56
7473668 1995
9
Parathyroid hormone gene analysis in autosomal hypoparathyroidism using an intragenic tetranucleotide (AAAT)n polymorphism. 56
8478012 1993
10
Autosomal dominant hypoparathyroidism with intracranial calcification outside the basal ganglia. 56
2705481 1989
11
Primary familial hypoparathyroidism with an autosomal dominant mode of inheritance. 56
3361084 1988
12
Exclusion of close linkage between the parathyroid hormone gene and a mutant gene locus causing idiopathic hypoparathyroidism. 56
3014148 1986
13
Familial idiopathic hypoparathyroidism and progressive sensorineural deafness. 56
3961795 1986
14
Pseudoidiopathic hypoparathyroidism. Hypoparathyroidism with ineffective parathyroid hormone. 56
4749207 1973
15
Chronic hypoparathyroidism in two generations. 56
5142935 1971
16
Familial early hypoparathyroidism associated with hypomagnesaemia. 56
5312271 1970
17
Familial idiopathic hypoparathyroidism. 56
5635448 1968
18
Congenital absence of the parathyroid and thymus glands in an infant. (3 and 4 pharyngeal pouch syndrome). 56
5950593 1966
19
Intrauterine hyperparathyroidism: a complication of untreated maternal hypoparathyroidism. 56
5949336 1966
20
HEREDITARY HYPOPARATHYROIDISM PRESENTING WITH OEDEMA IN THE NEONATAL PERIOD. 56
14152970 1964
21
[Familial hypoparathyroidism. Clinical, biological and therapeutic study]. 56
13692431 1960
22
Oxygen-dependent asparagine hydroxylation of the ubiquitin-associated (UBA) domain in Cezanne regulates ubiquitin binding. 61
31937588 2020
23
Hypermethylated gene ANKDD1A is a candidate tumor suppressor that interacts with FIH1 and decreases HIF1α stability to inhibit cell autophagy in the glioblastoma multiforme hypoxia microenvironment. 61
30082910 2019
24
Factor inhibiting HIF1-A novel target of SUMOylation in the human placenta. 61
29371964 2017
25
microRNA-184 Induces a Commitment Switch to Epidermal Differentiation. 61
29198823 2017
26
MiR-24 induces chemotherapy resistance and hypoxic advantage in breast cancer. 61
28061479 2017
27
MicroRNA-125a-5p Contributes to Hepatic Stellate Cell Activation through Targeting FIH1. 61
27074047 2016
28
The role of the miR-31/FIH1 pathway in TGF-β-induced liver fibrosis. 61
25728779 2015
29
Hypoxia-inducible miR-182 enhances HIF1α signaling via targeting PHD2 and FIH1 in prostate cancer. 61
26205124 2015
30
The Cancer Genome Atlas Analysis Predicts MicroRNA for Targeting Cancer Growth and Vascularization in Glioblastoma. 61
25903473 2015
31
miR-31 is consistently inactivated in EBV-associated nasopharyngeal carcinoma and contributes to its tumorigenesis. 61
25098679 2014
32
Global microRNA depletion suppresses tumor angiogenesis. 61
24788094 2014
33
Subcellular FIH-1 expression patterns in invasive breast cancer in relation to HIF-1α expression. 61
21732131 2011
34
Activation of the HIF prolyl hydroxylase by the iron chaperones PCBP1 and PCBP2. 61
22055506 2011
35
Prevention of apoptosis by the interaction between FIH1 and Bax. 61
21069436 2011
36
FIH1 (factor inhibiting HIF-1) in the kidney: more than an oxygen sensor? 61
20948541 2010
37
Factor inhibiting HIF limits the expression of hypoxia-inducible genes in podocytes and distal tubular cells. 61
20720525 2010
38
Hypoxia-inducible factors and the response to hypoxic stress. 61
20965423 2010
39
Force field design and molecular dynamics simulations of factor-inhibiting HIF-1 and its complex with known inhibitors: implications for rational inhibitor design. 61
20663694 2010
40
Structure-based virtual screening approach to the discovery of novel inhibitors of factor-inhibiting HIF-1: identification of new chelating groups for the active-site ferrous ion. 61
19822432 2009
41
Oxygen sensing by metazoans: the central role of the HIF hydroxylase pathway. 61
18498744 2008
42
The hypoxia-inducible factor 2alpha N-terminal and C-terminal transactivation domains cooperate to promote renal tumorigenesis in vivo. 61
17220275 2007

Variations for Hypoparathyroidism, Familial Isolated, 1

ClinVar genetic disease variations for Hypoparathyroidism, Familial Isolated, 1:

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

UniProtKB/Swiss-Prot genetic disease variations for Hypoparathyroidism, Familial Isolated, 1:

73
# Symbol AA change Variation ID SNP ID
1 GCM2 p.Arg47Leu VAR_058044 rs104893959
2 GCM2 p.Gly63Ser VAR_058045 rs104893960
3 GCM2 p.Arg110Trp VAR_065495 rs780594439
4 GCM2 p.Asn502His VAR_065498 rs533942394
5 PTH p.Cys18Arg VAR_006047 rs104894271
6 PTH p.Ser23Pro VAR_018464 rs104894272

Expression for Hypoparathyroidism, Familial Isolated, 1

Search GEO for disease gene expression data for Hypoparathyroidism, Familial Isolated, 1.

Pathways for Hypoparathyroidism, Familial Isolated, 1

Pathways related to Hypoparathyroidism, Familial Isolated, 1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.65 PTH GCM2

GO Terms for Hypoparathyroidism, Familial Isolated, 1

Biological processes related to Hypoparathyroidism, Familial Isolated, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 9.13 PTH GCM2 AIRE
2 cellular calcium ion homeostasis GO:0006874 8.62 PTH GCM2

Molecular functions related to Hypoparathyroidism, Familial Isolated, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001228 8.96 GCM2 AIRE
2 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 8.8 PTH GCM2 AIRE

Sources for Hypoparathyroidism, Familial Isolated, 1

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
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68 SNOMED-CT via HPO
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72 UMLS via Orphanet
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