HYPX
MCID: HYP611
MIFTS: 32

Hypoparathyroidism, X-Linked (HYPX)

Categories: Endocrine diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Hypoparathyroidism, X-Linked

MalaCards integrated aliases for Hypoparathyroidism, X-Linked:

Name: Hypoparathyroidism, X-Linked 56 73 13
Hypx 56 12 73
X-Linked Hypoparathyroidism 12 15
Parathyroid Glands, Agenesis of 56
Agenesis of Parathyroid Glands 12
Hypoparathyroidism - X-Linked 29
Hypoparathyroidism X-Linked 52

Characteristics:

OMIM:

56
Inheritance:
x-linked


HPO:

31
hypoparathyroidism, x-linked:
Inheritance x-linked inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111388
OMIM 56 307700
MeSH 43 D007011
MedGen 41 C0342344

Summaries for Hypoparathyroidism, X-Linked

UniProtKB/Swiss-Prot : 73 Hypoparathyroidism, X-linked: 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 familial isolated hypoparathyroidism due to agenesis of parathyroid gland. An important gene associated with Hypoparathyroidism, X-Linked is HPT (Hypoparathyroidism), and among its related pathways/superpathways is Ion channel transport. Affiliated tissues include kidney, liver and uterus, and related phenotypes are tetany and abnormality of the neck

Disease Ontology : 12 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

Graphical network of the top 20 diseases related to Hypoparathyroidism, X-Linked:



Diseases related to Hypoparathyroidism, X-Linked

Symptoms & Phenotypes for Hypoparathyroidism, X-Linked

Human phenotypes related to Hypoparathyroidism, X-Linked:

31
# Description HPO Frequency HPO Source Accession
1 tetany 31 HP:0001281
2 abnormality of the neck 31 HP:0000464
3 congenital hypoparathyroidism 31 HP:0008198
4 seizure 31 HP:0001250

Symptoms via clinical synopsis from OMIM:

56
Neuro:
seizures
tetany

Neck:
absent parathyroid glands

Endocrine:
neonatal true idiopathic hypoparathyroidism

Clinical features from OMIM:

307700

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 29

Anatomical Context for Hypoparathyroidism, X-Linked

MalaCards organs/tissues related to Hypoparathyroidism, X-Linked:

40
Kidney, Liver, Uterus, T Cells, Pituitary

Publications for Hypoparathyroidism, X-Linked

Articles related to Hypoparathyroidism, X-Linked:

(show all 45)
# Title Authors PMID Year
1
An interstitial deletion-insertion involving chromosomes 2p25.3 and Xq27.1, near SOX3, causes X-linked recessive hypoparathyroidism. 56
16167084 2005
2
Long-range control of gene expression: emerging mechanisms and disruption in disease. 56
15549674 2005
3
X-linked hypoparathyroidism region on Xq27 is evolutionarily conserved with regions on 3q26 and 13q34 and contains a novel P-type ATPase. 56
15533723 2004
4
Localisation of X linked recessive idiopathic hypoparathyroidism to a 1.5 Mb region on Xq26-q27. 56
9832036 1998
5
mtDNA analysis shows common ancestry in two kindreds with X-linked recessive hypoparathyroidism and reveals a heteroplasmic silent mutation. 56
8981958 1997
6
YAC/STS map across 12 Mb of Xq27 at 25-kb resolution, merging Xq26-qter. 56
8661022 1996
7
Male triplets concordant for X-linked recessive nonsyndromic hypoparathyroidism. 56
1628682 1992
8
Absence of parathyroid tissue in sex-linked recessive hypoparathyroidism. 56
3772677 1986
9
Idiopathic hypoparathyroidism presenting with seizures during infancy: X-linked recessive inheritance in a large Missouri kindred. 56
7196945 1981
10
True idiopathic hypoparathyroidism as a sexlinked recessive trait. 56
14431322 1960
11
[Not Available]. 56
13411770 1957
12
Resveratrol attenuates hypoxia-induced neuronal cell death, inflammation and mitochondrial oxidative stress by modulation of TRPM2 channel. 61
32296107 2020
13
Formyltetrahydrofolate Decarbonylase Synthesizes the Active Site CO Ligand of O2-Tolerant [NiFe] Hydrogenase. 61
31830412 2020
14
Structural characterization of HypX responsible for CO biosynthesis in the maturation of NiFe-hydrogenase. 61
31925214 2019
15
Structural characterization of HypX responsible for CO biosynthesis in the maturation of NiFe-hydrogenase. 61
31646188 2019
16
CO synthesized from the central one-carbon pool as source for the iron carbonyl in O2-tolerant [NiFe]-hydrogenase. 61
27930319 2016
17
Control of hydroxyproline catabolism in Sinorhizobium meliloti. 61
22804907 2012
18
Cross-organ interactions between reproductive, gastrointestinal, and urinary tracts: modulation by estrous stage and involvement of the hypogastric nerve. 61
16946082 2006
19
Influence of estradiol on micturition thresholds in the rat: involvement of the hypogastric nerve. 61
16123225 2005
20
The auxiliary protein HypX provides oxygen tolerance to the soluble [NiFe]-hydrogenase of ralstonia eutropha H16 by way of a cyanide ligand to nickel. 61
15342627 2004
21
The 2001 Veylien Henderson Award of the Society of Toxicology of Canada. Positive and negative transcriptional regulation of cytochromes P450 by polycyclic aromatic hydrocarbons. 61
12665258 2003
22
Aromatic hydrocarbon receptor expression and function in liver of hypophysectomized male rats. 61
12490138 2002
23
Contrasting effects of WIN 55212-2 on motility of the rat bladder and uterus. 61
12177210 2002
24
Involvement of hyp gene products in maturation of the H(2)-sensing [NiFe] hydrogenase of Ralstonia eutropha. 61
11717266 2001
25
Bladder inflammation and hypogastric neurectomy influence uterine motility in the rat. 61
11684337 2001
26
The latest hype on Hyp-O-glycosylation codes. 61
11393510 2001
27
Hyperpolarized (129)Xe T (1) in oxygenated and deoxygenated blood. 61
11114064 2000
28
Pituitary involvement in T cell renewal during development and metamorphosis of Xenopus laevis. 61
10970679 2000
29
Interference with growth hormone stimulation of hepatic cytochrome P4502C11 expression in hypophysectomized male rats by 3-methylcholanthrene. 61
10698668 2000
30
Positive transcriptional feedback controls hydrogenase expression in Alcaligenes eutrophus H16. 61
10482509 1999
31
hoxX (hypX) is a functional member of the Alcaligenes eutrophus hyp gene cluster. 61
9799290 1998
32
Development of hyperpolarized noble gas MRI. 61
11543065 1998
33
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. 61
8842143 1996
34
IGF binding protein 5 and IGF-I receptor regulation in hypophysectomized rat kidneys. 61
7508203 1994
35
Metabolic responses to head-down suspension in hypophysectomized rats. 61
8125895 1993
36
Effects of prolonged estrogen-progesterone treatment and hypophysectomy on the stimulation of short-latency maternal behavior and aggression in female rats. 61
2365299 1990
37
Suppression of neuropeptide Y-elicited eating by adrenalectomy or hypophysectomy: reversal with corticosterone. 61
2804697 1989
38
Normal atrial natriuretic peptide release after acute and chronic stimuli in hypophysectomized rats. 61
2528920 1989
39
Aromatase inhibition in hypophysectomised female rats: a novel animal model for in vivo screening. 61
2525653 1989
40
Effects of hypophysectomy on the sleep of neonatally monosodium glutamate-treated rats. 61
3224283 1988
41
Hypophysectomy in monosodium glutamate-pretreated rats suppresses paradoxical sleep rebound. 61
3362433 1988
42
Effect of hypophysectomy on energy balance and brown fat activity in obese Zucker rats. 61
3348369 1988
43
Thermogenic effects of dihydrocodeine in the rat. 61
3370536 1988
44
Activation of brown fat thermogenesis in response to central injection of corticotropin releasing hormone in the rat. 61
3498913 1987
45
Cyclic response of hypophysectomized rats to ovulation induced by LHRH agonist: mediation by prostaglandins. 61
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
11.29 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 lysosomal membrane GO:0005765 9.54 SPPL2B ATP11C ATP11A
2 trans-Golgi network GO:0005802 9.43 ATP11C ATP11B ATP11A
3 U1 snRNP GO:0005685 9.32 PRPF40B PRPF40A
4 U2-type prespliceosome GO:0071004 9.16 PRPF40B PRPF40A
5 Golgi-associated vesicle membrane GO:0030660 8.96 ZDHHC17 SPPL2B
6 recycling endosome GO:0055037 8.8 ATP11C ATP11B ATP11A

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

# Name GO ID Score Top Affiliating Genes
1 lipid transport GO:0006869 9.33 ATP11C ATP11B ATP11A
2 mRNA cis splicing, via spliceosome GO:0045292 9.26 PRPF40B PRPF40A
3 phospholipid transport GO:0015914 9.13 ATP11C ATP11B ATP11A
4 phospholipid translocation GO:0045332 8.8 ATP11C ATP11B ATP11A

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

# Name GO ID Score Top Affiliating Genes
1 magnesium ion binding GO:0000287 8.8 ATP11C ATP11B ATP11A

Sources for Hypoparathyroidism, X-Linked

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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