Hypoparathyroidism, X-Linked disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Hypoparathyroidism, X-Linked

MalaCards integrated aliases for Hypoparathyroidism, X-Linked:

Name: Hypoparathyroidism, X-Linked ⁵⁷ ⁷³

Hypx ⁵⁷ ¹¹ ⁷³

X-Linked Hypoparathyroidism ¹¹ ¹⁴

Parathyroid Glands, Agenesis of ⁵⁷

Agenesis of Parathyroid Glands ¹¹

Hypoparathyroidism - X-Linked ²⁸

Hypoparathyroidism X-Linked ¹⁹

Characteristics:

Inheritance:

X-linked ⁵⁷

Classifications:

MalaCards categories:
Global: Rare diseases Genetic diseases
Anatomical: Endocrine diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹¹ DOID:0111388

OMIM® ⁵⁷ 307700

MeSH ⁴³ D007011

MedGen ⁴⁰ C0342344

SNOMED-CT via HPO ⁶⁹ 10629009 128613002 246545002 more

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Summaries for Hypoparathyroidism, X-Linked

UniProtKB/Swiss-Prot: ⁷³ An X-linked form of true hypoparathyroidism characterized by neonatal or infantile onset and absence of parathyroid glands. Clinical features are hypocalcemia, hyperphosphatemia, seizures, tetany and cramps.

MalaCards based summary: Hypoparathyroidism, X-Linked, also known as hypx, is related to hypoparathyroidism and progressive familial intrahepatic cholestasis. An important gene associated with Hypoparathyroidism, X-Linked is HPT (Hypoparathyroidism), and among its related pathways/superpathways is Ion channel transport. Affiliated tissues include uterus, pituitary and liver, and related phenotypes are seizure and tetany

Disease Ontology: ¹¹ A hypoparathyroidism that has material basis in mutation in a region on chromosome Xq27.1 that appears to alter expression of SOX3.

More information from OMIM: 307700

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Related Diseases for Hypoparathyroidism, X-Linked

Diseases related to Hypoparathyroidism, X-Linked via text searches within MalaCards or GeneCards Suite gene sharing:

#	Related Disease	Score	Top Affiliating Genes
1	hypoparathyroidism	30.3	SOX3 HPT
2	progressive familial intrahepatic cholestasis	9.8	ATP11C ATP11A
3	cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1	9.8	ATP11C ATP11B ATP11A
4	cholestasis, progressive familial intrahepatic, 1	9.7	ATP11C ATP11B ATP11A

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Symptoms & Phenotypes for Hypoparathyroidism, X-Linked

Human phenotypes related to Hypoparathyroidism, X-Linked:

³⁰

#	Description	HPO Source Accession
1	seizure ³⁰	HP:0001250
2	tetany ³⁰	HP:0001281
3	abnormality of the neck ³⁰	HP:0000464
4	congenital hypoparathyroidism ³⁰	HP:0008198

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 08-Dec-2022)

Neuro:
tetany
seizures

Neck:
absent parathyroid glands

Endocrine:
neonatal true idiopathic hypoparathyroidism

Clinical features from OMIM®:

307700 (Updated 08-Dec-2022)

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Drugs & Therapeutics for Hypoparathyroidism, X-Linked

Search Clinical Trials, NIH Clinical Center for Hypoparathyroidism, X-Linked

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Genetic Tests for Hypoparathyroidism, X-Linked

Genetic tests related to Hypoparathyroidism, X-Linked:

#	Genetic test	Affiliating Genes
1	Hypoparathyroidism - X-Linked ²⁸

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Anatomical Context for Hypoparathyroidism, X-Linked

Organs/tissues related to Hypoparathyroidism, X-Linked:

MalaCards : Uterus, Pituitary, Liver

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Publications for Hypoparathyroidism, X-Linked

Articles related to Hypoparathyroidism, X-Linked:

(show all 48)

#	Title	Authors	PMID	Year
1	X-linked hypoparathyroidism region on Xq27 is evolutionarily conserved with regions on 3q26 and 13q34 and contains a novel P-type ATPase. ⁶² ⁵⁷	Andrew Nesbit M...Thakker RV	15533723	2004
2	YAC/STS map across 12 Mb of Xq27 at 25-kb resolution, merging Xq26-qter. ⁶² ⁵⁷	Zucchi I...Schlessinger D	8661022	1996
3	An interstitial deletion-insertion involving chromosomes 2p25.3 and Xq27.1, near SOX3, causes X-linked recessive hypoparathyroidism. ⁵⁷	Bowl MR...Thakker RV	16167084	2005
4	Long-range control of gene expression: emerging mechanisms and disruption in disease. ⁵⁷	Kleinjan DA...van Heyningen V	15549674	2005
5	Localisation of X linked recessive idiopathic hypoparathyroidism to a 1.5 Mb region on Xq26-q27. ⁵⁷	Trump D...Thakker RV	9832036	1998
6	mtDNA analysis shows common ancestry in two kindreds with X-linked recessive hypoparathyroidism and reveals a heteroplasmic silent mutation. ⁵⁷	Mumm S...Schlessinger D	8981958	1997
7	Male triplets concordant for X-linked recessive nonsyndromic hypoparathyroidism. ⁵⁷	Teebi AS...Malek AH	1628682	1992
8	Absence of parathyroid tissue in sex-linked recessive hypoparathyroidism. ⁵⁷	Whyte MP...Kosanovich M	3772677	1986
9	Idiopathic hypoparathyroidism presenting with seizures during infancy: X-linked recessive inheritance in a large Missouri kindred. ⁵⁷	Whyte MP...Weldon VV	7196945	1981
10	True idiopathic hypoparathyroidism as a sexlinked recessive trait. ⁵⁷	PEDEN VH	14431322	1960
11	Familiar Hypoparathyroidism. ⁵⁷	BUCHS S	13411770	1957
12	The involvement of TRPV4 on the hypoxia-induced oxidative neurotoxicity and apoptosis in a neuronal cell line: Protective role of melatonin. ⁶²	Ozsimsek A...Naziroglu M	34562506	2021
13	The Acute Effect of Hyperoxia on Onset of Blood Lactate Accumulation (OBLA) and Performance in Female Runners during the Maximal Treadmill Test. ⁶²	Silva TC...Souza RF	33922940	2021
14	Involvement of TRPM2 Channel on Hypoxia-Induced Oxidative Injury, Inflammation, and Cell Death in Retinal Pigment Epithelial Cells: Modulator Action of Selenium Nanoparticles. ⁶²	Ozkaya D...Muhamad S	33389617	2021
15	Resveratrol attenuates hypoxia-induced neuronal cell death, inflammation and mitochondrial oxidative stress by modulation of TRPM2 channel. ⁶²	Akyuva Y...Naziroglu M	32296107	2020
16	Formyltetrahydrofolate Decarbonylase Synthesizes the Active Site CO Ligand of O2-Tolerant [NiFe] Hydrogenase. ⁶²	Schulz AC...Lenz O	31830412	2020
17	Studies of mice deleted for Sox3 and uc482: relevance to X-linked hypoparathyroidism. ⁶²	Gaynor KU...Thakker R	31961795	2020
18	Structural characterization of HypX responsible for CO biosynthesis in the maturation of NiFe-hydrogenase. ⁶²	Muraki N...Aono S	31646188	2019
19	CO synthesized from the central one-carbon pool as source for the iron carbonyl in O2-tolerant [NiFe]-hydrogenase. ⁶²	Burstel I...Lenz O	27930319	2016
20	Control of hydroxyproline catabolism in Sinorhizobium meliloti. ⁶²	White CE...Finan TM	22804907	2012
21	Cross-organ interactions between reproductive, gastrointestinal, and urinary tracts: modulation by estrous stage and involvement of the hypogastric nerve. ⁶²	Winnard KP...Berkley KJ	16946082	2006
22	Influence of estradiol on micturition thresholds in the rat: involvement of the hypogastric nerve. ⁶²	Dmitrieva N...Berkley KJ	16123225	2005
23	The auxiliary protein HypX provides oxygen tolerance to the soluble [NiFe]-hydrogenase of ralstonia eutropha H16 by way of a cyanide ligand to nickel. ⁶²	Bleijlevens B...Albracht SP	15342627	2004
24	The 2001 Veylien Henderson Award of the Society of Toxicology of Canada. Positive and negative transcriptional regulation of cytochromes P450 by polycyclic aromatic hydrocarbons. ⁶²	Riddick DS...Timsit YE	12665258	2003
25	Aromatic hydrocarbon receptor expression and function in liver of hypophysectomized male rats. ⁶²	Timsit YE...Riddick DS	12490138	2002
26	Contrasting effects of WIN 55212-2 on motility of the rat bladder and uterus. ⁶²	Dmitrieva N...Berkley KJ	12177210	2002
27	Involvement of hyp gene products in maturation of the H(2)-sensing [NiFe] hydrogenase of Ralstonia eutropha. ⁶²	Buhrke T...Friedrich B	11717266	2001
28	Bladder inflammation and hypogastric neurectomy influence uterine motility in the rat. ⁶²	Dmitrieva N...Berkley KJ	11684337	2001
29	The latest hype on Hyp-O-glycosylation codes. ⁶²	Kieliszewski MJ	11393510	2001
30	Hyperpolarized (129)Xe T (1) in oxygenated and deoxygenated blood. ⁶²	Albert MS...Jolesz FA	11114064	2000
31	Pituitary involvement in T cell renewal during development and metamorphosis of Xenopus laevis. ⁶²	Rollins-Smith LA...Reinert LK	10970679	2000
32	Interference with growth hormone stimulation of hepatic cytochrome P4502C11 expression in hypophysectomized male rats by 3-methylcholanthrene. ⁶²	Timsit YE...Riddick DS	10698668	2000
33	Positive transcriptional feedback controls hydrogenase expression in Alcaligenes eutrophus H16. ⁶²	Schwartz E...Friedrich B	10482509	1999
34	hoxX (hypX) is a functional member of the Alcaligenes eutrophus hyp gene cluster. ⁶²	Buhrke T...Friedrich B	9799290	1998
35	Development of hyperpolarized noble gas MRI. ⁶²	Albert MS...Balamore D	11543065	1998
36	The hydrogenase gene cluster of Rhizobium leguminosarum bv. viciae contains an additional gene (hypX), which encodes a protein with sequence similarity to the N10-formyltetrahydrofolate-dependent enzyme family and is required for nickel-dependent hydrogenase processing and activity. ⁶²	Rey L...Ruiz-Argueso T	8842143	1996
37	IGF binding protein 5 and IGF-I receptor regulation in hypophysectomized rat kidneys. ⁶²	Hise MK...Fontana JA	7508203	1994
38	Metabolic responses to head-down suspension in hypophysectomized rats. ⁶²	Woodman CR...Grindeland RE	8125895	1993
39	Effects of prolonged estrogen-progesterone treatment and hypophysectomy on the stimulation of short-latency maternal behavior and aggression in female rats. ⁶²	Mayer AD...Rosenblatt JS	2365299	1990
40	Suppression of neuropeptide Y-elicited eating by adrenalectomy or hypophysectomy: reversal with corticosterone. ⁶²	Stanley BG...Leibowitz SF	2804697	1989
41	Normal atrial natriuretic peptide release after acute and chronic stimuli in hypophysectomized rats. ⁶²	Hoffman A...Keiser HR	2528920	1989
42	Aromatase inhibition in hypophysectomised female rats: a novel animal model for in vivo screening. ⁶²	Deckers GH...Schuurs AH	2525653	1989
43	Effects of hypophysectomy on the sleep of neonatally monosodium glutamate-treated rats. ⁶²	Zhang JX...Jouvet M	3224283	1988
44	Hypophysectomy in monosodium glutamate-pretreated rats suppresses paradoxical sleep rebound. ⁶²	Zhang JX...Jouvet M	3362433	1988
45	Effect of hypophysectomy on energy balance and brown fat activity in obese Zucker rats. ⁶²	Holt S...York DA	3348369	1988
46	Thermogenic effects of dihydrocodeine in the rat. ⁶²	Rothwell NJ...Tedstone AE	3370536	1988
47	Activation of brown fat thermogenesis in response to central injection of corticotropin releasing hormone in the rat. ⁶²	LeFeuvre RA...Stock MJ	3498913	1987
48	Cyclic response of hypophysectomized rats to ovulation induced by LHRH agonist: mediation by prostaglandins. ⁶²	Bex FJ...Corbin A	6433130	1984

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Genes for Hypoparathyroidism, X-Linked

Genes related to Hypoparathyroidism, X-Linked (1 elite genes):

(show all 12)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	HPT	Hypoparathyroidism	Genetic Locus	500	Structural variation ⁵⁷
2	SOX3	SRY-Box Transcription Factor 3	Protein Coding	13.91	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)
3	ATP11C	ATPase Phospholipid Transporting 11C	Protein Coding	6.47	DISEASES inferred ¹⁴
4	SNTG2	Syntrophin Gamma 2	Protein Coding	5.83	DISEASES inferred ¹⁴
5	ATP11B	ATPase Phospholipid Transporting 11B (Putative)	Protein Coding	5.82	DISEASES inferred ¹⁴
6	MCF2L	MCF.2 Cell Line Derived Transforming Sequence Like	Protein Coding	5.56	DISEASES inferred ¹⁴
7	CCDC160	Coiled-Coil Domain Containing 160	Protein Coding	5.54	DISEASES inferred ¹⁴
8	ATP11A	ATPase Phospholipid Transporting 11A	Protein Coding	5.45	DISEASES inferred ¹⁴
9	TMEM184C	Transmembrane Protein 184C	Protein Coding	5.34	DISEASES inferred ¹⁴
10	PGGHG	Protein-Glucosylgalactosylhydroxylysine Glucosidase	Protein Coding	5.22	DISEASES inferred ¹⁴
11	KIAA1614	KIAA1614	Protein Coding	5.19	DISEASES inferred ¹⁴
12	MIR3121	MicroRNA 3121	RNA Gene	5.12	DISEASES inferred ¹⁴

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Variations for Hypoparathyroidism, X-Linked

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Expression for Hypoparathyroidism, X-Linked

Search GEO for disease gene expression data for Hypoparathyroidism, X-Linked.

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Pathways for Hypoparathyroidism, X-Linked

Pathways related to Hypoparathyroidism, X-Linked according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Ion channel transport ⁶⁶ Show member pathways Stimuli-sensing channels ⁶⁶	11.27	ATP11C ATP11B ATP11A

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GO Terms for Hypoparathyroidism, X-Linked

Cellular components related to Hypoparathyroidism, X-Linked according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	trans-Golgi network	GO:0005802	9.63	ATP11C ATP11B ATP11A
2	recycling endosome	GO:0055037	9.43	ATP11C ATP11B ATP11A
3	phospholipid-translocating ATPase complex	GO:1990531	9.1	ATP11C ATP11B ATP11A

Biological processes related to Hypoparathyroidism, X-Linked according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	aminophospholipid translocation	GO:0140331	9.46	ATP11C ATP11A
2	lipid transport	GO:0006869	9.43	ATP11C ATP11B ATP11A
3	phospholipid transport	GO:0015914	9.13	ATP11C ATP11B ATP11A
4	phospholipid translocation	GO:0045332	9.1	ATP11C ATP11B ATP11A

Molecular functions related to Hypoparathyroidism, X-Linked according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	ATPase-coupled intramembrane lipid transporter activity	GO:0140326	9.63	ATP11C ATP11B ATP11A
2	phosphatidylserine flippase activity	GO:0140346	9.56	ATP11C ATP11A
3	phosphatidylserine floppase activity	GO:0090556	9.43	ATP11C ATP11B ATP11A
4	phosphatidylethanolamine flippase activity	GO:0090555	9.1	ATP11C ATP11B ATP11A

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Sources for Hypoparathyroidism, X-Linked

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

HYPX MCID: HYP611 MIFTS: 30	Hypoparathyroidism, X-Linked (HYPX) Categories: Endocrine diseases, Genetic diseases, Rare diseases	Data Licensing For inquiries, contact: [email protected]
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Hypoparathyroidism, X-Linked (HYPX)

Aliases & Classifications for Hypoparathyroidism, X-Linked

MalaCards integrated aliases for Hypoparathyroidism, X-Linked:

Characteristics:

Inheritance:

Classifications:

External Ids:

Summaries for Hypoparathyroidism, X-Linked

Related Diseases for Hypoparathyroidism, X-Linked

Diseases related to Hypoparathyroidism, X-Linked via text searches within MalaCards or GeneCards Suite gene sharing:

Symptoms & Phenotypes for Hypoparathyroidism, X-Linked

Human phenotypes related to Hypoparathyroidism, X-Linked:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

Drugs & Therapeutics for Hypoparathyroidism, X-Linked

Genetic Tests for Hypoparathyroidism, X-Linked

Genetic tests related to Hypoparathyroidism, X-Linked:

Anatomical Context for Hypoparathyroidism, X-Linked

Organs/tissues related to Hypoparathyroidism, X-Linked:

Publications for Hypoparathyroidism, X-Linked

Articles related to Hypoparathyroidism, X-Linked:

Genes for Hypoparathyroidism, X-Linked

Genes related to Hypoparathyroidism, X-Linked (1 elite genes):

Variations for Hypoparathyroidism, X-Linked

Expression for Hypoparathyroidism, X-Linked

Pathways for Hypoparathyroidism, X-Linked

Pathways related to Hypoparathyroidism, X-Linked according to GeneCards Suite gene sharing:

GO Terms for Hypoparathyroidism, X-Linked

Cellular components related to Hypoparathyroidism, X-Linked according to GeneCards Suite gene sharing:

Biological processes related to Hypoparathyroidism, X-Linked according to GeneCards Suite gene sharing:

Molecular functions related to Hypoparathyroidism, X-Linked according to GeneCards Suite gene sharing:

Sources for Hypoparathyroidism, X-Linked