HYPX
MCID: HYP611
MIFTS: 21

Hypoparathyroidism, X-Linked (HYPX)

Categories: Endocrine diseases, Rare diseases

Aliases & Classifications for Hypoparathyroidism, X-Linked

MalaCards integrated aliases for Hypoparathyroidism, X-Linked:

Name: Hypoparathyroidism, X-Linked 57 74 13
Hypx 57 74
Parathyroid Glands, Agenesis of 57
Hypoparathyroidism - X-Linked 29
Hypoparathyroidism X-Linked 53

Characteristics:

OMIM:

57
Inheritance:
x-linked


HPO:

32
hypoparathyroidism, x-linked:
Inheritance x-linked inheritance


Classifications:



External Ids:

OMIM 57 307700
MeSH 44 D007011
MedGen 42 C0342344

Summaries for Hypoparathyroidism, X-Linked

UniProtKB/Swiss-Prot : 74 Hypoparathyroidism, X-linked: A 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. An important gene associated with Hypoparathyroidism, X-Linked is HPT (Hypoparathyroidism). Affiliated tissues include liver, uterus and kidney, and related phenotypes are seizures and tetany

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 10.0

Symptoms & Phenotypes for Hypoparathyroidism, X-Linked

Human phenotypes related to Hypoparathyroidism, X-Linked:

32
# Description HPO Frequency HPO Source Accession
1 seizures 32 HP:0001250
2 tetany 32 HP:0001281
3 abnormality of the neck 32 HP:0000464
4 congenital hypoparathyroidism 32 HP:0008198

Symptoms via clinical synopsis from OMIM:

57
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:

41
Liver, Uterus, Kidney, Pituitary, T Cells

Publications for Hypoparathyroidism, X-Linked

Articles related to Hypoparathyroidism, X-Linked:

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

GO Terms for Hypoparathyroidism, X-Linked

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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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