Hypoparathyroidism, X-Linked disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

Sources

Aliases & Classifications for Hypoparathyroidism, X-Linked

MalaCards integrated aliases for Hypoparathyroidism, X-Linked:

Name: Hypoparathyroidism, X-Linked ⁵⁷ ¹³

Parathyroid Glands, Agenesis of ⁵⁷

Hypoparathyroidism - X-Linked ²⁹

Hypoparathyroidism X-Linked ⁵³

Hypx ⁵⁷

Characteristics:

OMIM:

⁵⁷

Inheritance:
x-linked

HPO:

³²

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 ⁵⁷ 307700

MedGen ⁴² C0342344

SNOMED-CT via HPO ⁶⁹ 298390003 40052002 128613002 more

Sources

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

Sources

Related Diseases for Hypoparathyroidism, X-Linked

Sources

Symptoms & Phenotypes for Hypoparathyroidism, X-Linked

Symptoms via clinical synopsis from OMIM:

⁵⁷

Neuro:
seizures
tetany

Neck:
absent parathyroid glands

Endocrine:
neonatal true idiopathic hypoparathyroidism

Clinical features from OMIM:

307700

Human phenotypes related to Hypoparathyroidism, X-Linked:

³²

#	Description	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

Sources

Drugs & Therapeutics for Hypoparathyroidism, X-Linked

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

Sources

Genetic Tests for Hypoparathyroidism, X-Linked

Genetic tests related to Hypoparathyroidism, X-Linked:

#	Genetic test	Affiliating Genes
1	Hypoparathyroidism - X-Linked ²⁹

Sources

Anatomical Context for Hypoparathyroidism, X-Linked

Sources

Publications for Hypoparathyroidism, X-Linked

Sources

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	50	Genetic linkage ⁵⁷

Sources

Variations for Hypoparathyroidism, X-Linked

Sources

Expression for Hypoparathyroidism, X-Linked

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

Sources

Pathways for Hypoparathyroidism, X-Linked

Sources

GO Terms for Hypoparathyroidism, X-Linked

Sources

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 ExPASy

¹⁸ FDA Approved Drugs

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ 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

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Human phenotypes related to Hypoparathyroidism, X-Linked:

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