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 ⁵⁸ ⁷⁶

Hypx ⁵⁸ ⁷⁶

Parathyroid Glands, Agenesis of ⁵⁸

Hypoparathyroidism - X-Linked ³⁰

Hypoparathyroidism X-Linked ⁵⁴

Characteristics:

OMIM:

⁵⁸

Inheritance:
x-linked

HPO:

³³

hypoparathyroidism, x-linked:
Inheritance x-linked inheritance

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Endocrine diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁸ 307700

MeSH ⁴⁵ D007011

MedGen ⁴³ C0342344

SNOMED-CT via HPO ⁷⁰ 10629009 128613002 246545002 more

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Summaries for Hypoparathyroidism, X-Linked

UniProtKB/Swiss-Prot : ⁷⁶ 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, is also known as hypx. An important gene associated with Hypoparathyroidism, X-Linked is HPT (Hypoparathyroidism). Related phenotypes are seizures and tetany

Description from OMIM: 307700

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Related Diseases for Hypoparathyroidism, X-Linked

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Symptoms & Phenotypes for Hypoparathyroidism, X-Linked

Human phenotypes related to Hypoparathyroidism, X-Linked:

³³

#	Description	HPO Source Accession
1	seizures ³³	HP:0001250
2	tetany ³³	HP:0001281
3	abnormality of the neck ³³	HP:0000464
4	congenital hypoparathyroidism ³³	HP:0008198

Symptoms via clinical synopsis from OMIM:

⁵⁸

Neuro:
seizures
tetany

Neck:
absent parathyroid glands

Endocrine:
neonatal true idiopathic hypoparathyroidism

Clinical features from OMIM:

307700

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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 ³⁰

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Anatomical Context for Hypoparathyroidism, X-Linked

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Publications for Hypoparathyroidism, X-Linked

Articles related to Hypoparathyroidism, X-Linked:

#	Title	Authors	Year
1	The auxiliary protein HypX provides oxygen tolerance to the soluble [NiFe]-hydrogenase of ralstonia eutropha H16 by way of a cyanide ligand to nickel. ( 15342627 )	Bleijlevens B...Albracht SP	2004
2	hoxX (hypX) is a functional member of the Alcaligenes eutrophus hyp gene cluster. ( 9799290 )	Buhrke T...Friedrich B	1998
3	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. ( 8842143 )	Rey L...Ruiz-Arg?eso T	1996

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Genes for Hypoparathyroidism, X-Linked

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

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	HPT	Hypoparathyroidism	Genetic Locus	500	Structural variation ⁵⁸

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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

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GO Terms for Hypoparathyroidism, X-Linked

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¹ BioSystems

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²⁹ GO

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³⁷ IUPHAR

³⁸ KEGG

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⁶⁹ SNOMED-CT

⁷⁰ SNOMED-CT via HPO

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⁷² TGDB

⁷³ Tocris

⁷⁴ UMLS

⁷⁵ UMLS via Orphanet

⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ Wikipedia

Hypoparathyroidism, X-Linked (HYPX)

Aliases & Classifications for Hypoparathyroidism, X-Linked

MalaCards integrated aliases for Hypoparathyroidism, X-Linked:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Hypoparathyroidism, X-Linked

Related Diseases for Hypoparathyroidism, X-Linked

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

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

GO Terms for Hypoparathyroidism, X-Linked

Sources for Hypoparathyroidism, X-Linked