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 ¹³

Parathyroid Glands, Agenesis of ⁵⁸

Hypoparathyroidism - X-Linked ³⁰

Hypoparathyroidism X-Linked ⁵⁴

Hypx ⁵⁸

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

MedGen ⁴³ C0342344

SNOMED-CT via HPO ⁷⁰ 10629009 128613002 246545002 more

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Summaries for Hypoparathyroidism, X-Linked

MalaCards based summary : Hypoparathyroidism, X-Linked, is also known as parathyroid glands, agenesis of. 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

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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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Sources for Hypoparathyroidism, X-Linked

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FDA Approved Drugs

²⁰ FMA

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ Genetics Home Reference

²⁷ GenomeRNAi

²⁸ GEO DataSets

²⁹ GO

³⁰ GTR

³¹ HGMD

³² HMDB

³³ HPO

³⁴ ICD10

³⁵ ICD10 via Orphanet

³⁶ ICD9CM

³⁷ IUPHAR

³⁸ KEGG

³⁹ LifeMap

⁴⁰ LncRNADisease

⁴¹ LOVD

⁴² MalaCards

⁴³ MedGen

⁴⁴ MedlinePlus

⁴⁵ MeSH

⁴⁶ MESH via Orphanet

⁴⁷ MGI

⁴⁸ miR2Disease

⁴⁹ NCBI Bookshelf

⁵⁰ NCI

⁵¹ NCIt

⁵² NDF-RT

⁵³ NIH Clinical Center

⁵⁴ NIH Rare Diseases

⁵⁵ NINDS

⁵⁶ Novoseek

⁵⁷ Novus Biologicals

⁵⁸ OMIM

⁵⁹ OMIM via Orphanet

⁶⁰ Orphanet

⁶¹ PathCards

⁶² PharmGKB

⁶³ PubMed

⁶⁴ PubMed Health

⁶⁵ QIAGEN

⁶⁶ R&D Systems

⁶⁷ Reactome

⁶⁸ Sino Biological

⁶⁹ SNOMED-CT

⁷⁰ SNOMED-CT via HPO

⁷¹ SNOMED-CT via Orphanet

⁷² TGDB

⁷³ Tocris

⁷⁴ UMLS

⁷⁵ UMLS via Orphanet

⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ Wikipedia

HYPX MCID: HYP611 MIFTS: 15	Hypoparathyroidism, X-Linked (HYPX) Categories: Endocrine diseases, Rare diseases
Genes Symptoms & Phenotypes Expand all tables

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

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