HYPX
MCID: HYP611
MIFTS: 30

Hypoparathyroidism, X-Linked (HYPX)

Categories: Endocrine diseases, Genetic diseases, Rare diseases
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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:



External Ids:

Disease Ontology 11 DOID:0111388
OMIM® 57 307700
MeSH 43 D007011
MedGen 40 C0342344

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

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

Symptoms & Phenotypes for Hypoparathyroidism, X-Linked

Human phenotypes related to Hypoparathyroidism, X-Linked:

30
# Description HPO Frequency Orphanet Frequency 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)

Drugs & Therapeutics for Hypoparathyroidism, X-Linked

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

Genetic Tests for Hypoparathyroidism, X-Linked

Genetic tests related to Hypoparathyroidism, X-Linked:

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

Anatomical Context for Hypoparathyroidism, X-Linked

Organs/tissues related to Hypoparathyroidism, X-Linked:

MalaCards : Uterus, Pituitary, Liver

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
15533723 2004
2
YAC/STS map across 12 Mb of Xq27 at 25-kb resolution, merging Xq26-qter. 62 57
8661022 1996
3
An interstitial deletion-insertion involving chromosomes 2p25.3 and Xq27.1, near SOX3, causes X-linked recessive hypoparathyroidism. 57
16167084 2005
4
Long-range control of gene expression: emerging mechanisms and disruption in disease. 57
15549674 2005
5
Localisation of X linked recessive idiopathic hypoparathyroidism to a 1.5 Mb region on Xq26-q27. 57
9832036 1998
6
mtDNA analysis shows common ancestry in two kindreds with X-linked recessive hypoparathyroidism and reveals a heteroplasmic silent mutation. 57
8981958 1997
7
Male triplets concordant for X-linked recessive nonsyndromic hypoparathyroidism. 57
1628682 1992
8
Absence of parathyroid tissue in sex-linked recessive hypoparathyroidism. 57
3772677 1986
9
Idiopathic hypoparathyroidism presenting with seizures during infancy: X-linked recessive inheritance in a large Missouri kindred. 57
7196945 1981
10
True idiopathic hypoparathyroidism as a sexlinked recessive trait. 57
14431322 1960
11
Familiar Hypoparathyroidism. 57
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
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
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
33389617 2021
15
Resveratrol attenuates hypoxia-induced neuronal cell death, inflammation and mitochondrial oxidative stress by modulation of TRPM2 channel. 62
32296107 2020
16
Formyltetrahydrofolate Decarbonylase Synthesizes the Active Site CO Ligand of O2-Tolerant [NiFe] Hydrogenase. 62
31830412 2020
17
Studies of mice deleted for Sox3 and uc482: relevance to X-linked hypoparathyroidism. 62
31961795 2020
18
Structural characterization of HypX responsible for CO biosynthesis in the maturation of NiFe-hydrogenase. 62
31646188 2019
19
CO synthesized from the central one-carbon pool as source for the iron carbonyl in O2-tolerant [NiFe]-hydrogenase. 62
27930319 2016
20
Control of hydroxyproline catabolism in Sinorhizobium meliloti. 62
22804907 2012
21
Cross-organ interactions between reproductive, gastrointestinal, and urinary tracts: modulation by estrous stage and involvement of the hypogastric nerve. 62
16946082 2006
22
Influence of estradiol on micturition thresholds in the rat: involvement of the hypogastric nerve. 62
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
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
12665258 2003
25
Aromatic hydrocarbon receptor expression and function in liver of hypophysectomized male rats. 62
12490138 2002
26
Contrasting effects of WIN 55212-2 on motility of the rat bladder and uterus. 62
12177210 2002
27
Involvement of hyp gene products in maturation of the H(2)-sensing [NiFe] hydrogenase of Ralstonia eutropha. 62
11717266 2001
28
Bladder inflammation and hypogastric neurectomy influence uterine motility in the rat. 62
11684337 2001
29
The latest hype on Hyp-O-glycosylation codes. 62
11393510 2001
30
Hyperpolarized (129)Xe T (1) in oxygenated and deoxygenated blood. 62
11114064 2000
31
Pituitary involvement in T cell renewal during development and metamorphosis of Xenopus laevis. 62
10970679 2000
32
Interference with growth hormone stimulation of hepatic cytochrome P4502C11 expression in hypophysectomized male rats by 3-methylcholanthrene. 62
10698668 2000
33
Positive transcriptional feedback controls hydrogenase expression in Alcaligenes eutrophus H16. 62
10482509 1999
34
hoxX (hypX) is a functional member of the Alcaligenes eutrophus hyp gene cluster. 62
9799290 1998
35
Development of hyperpolarized noble gas MRI. 62
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
8842143 1996
37
IGF binding protein 5 and IGF-I receptor regulation in hypophysectomized rat kidneys. 62
7508203 1994
38
Metabolic responses to head-down suspension in hypophysectomized rats. 62
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
2365299 1990
40
Suppression of neuropeptide Y-elicited eating by adrenalectomy or hypophysectomy: reversal with corticosterone. 62
2804697 1989
41
Normal atrial natriuretic peptide release after acute and chronic stimuli in hypophysectomized rats. 62
2528920 1989
42
Aromatase inhibition in hypophysectomised female rats: a novel animal model for in vivo screening. 62
2525653 1989
43
Effects of hypophysectomy on the sleep of neonatally monosodium glutamate-treated rats. 62
3224283 1988
44
Hypophysectomy in monosodium glutamate-pretreated rats suppresses paradoxical sleep rebound. 62
3362433 1988
45
Effect of hypophysectomy on energy balance and brown fat activity in obese Zucker rats. 62
3348369 1988
46
Thermogenic effects of dihydrocodeine in the rat. 62
3370536 1988
47
Activation of brown fat thermogenesis in response to central injection of corticotropin releasing hormone in the rat. 62
3498913 1987
48
Cyclic response of hypophysectomized rats to ovulation induced by LHRH agonist: mediation by prostaglandins. 62
6433130 1984

Variations for Hypoparathyroidism, X-Linked

Expression for Hypoparathyroidism, X-Linked

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

Pathways for Hypoparathyroidism, X-Linked

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.27 ATP11C ATP11B ATP11A

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

Sources for Hypoparathyroidism, X-Linked

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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