Pituitary Hormone Deficiency, Combined, 6 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

Sources

Aliases & Classifications for Pituitary Hormone Deficiency, Combined, 6

MalaCards integrated aliases for Pituitary Hormone Deficiency, Combined, 6:

Name: Pituitary Hormone Deficiency, Combined, 6 ⁵⁸ ⁷⁶ ¹³ ⁷⁴

Pituitary Hormone Deficiency, Combined 6 ³⁰ ⁶

Cphd6 ⁵⁸ ⁷⁶

Hormone Deficiency, Pituitary, Combined, Type 6 ⁴¹

Characteristics:

OMIM:

⁵⁸

Inheritance:
autosomal dominant

HPO:

³³

pituitary hormone deficiency, combined, 6:
Inheritance autosomal dominant inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases
Anatomical: Endocrine diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁸ 613986

MeSH ⁴⁵ D007018

MedGen ⁴³ C3151440

SNOMED-CT via HPO ⁷⁰ 237836003 263681008 715727009

UMLS ⁷⁴ C3151440

Sources

Summaries for Pituitary Hormone Deficiency, Combined, 6

UniProtKB/Swiss-Prot : ⁷⁶ Pituitary hormone deficiency, combined, 6: Combined pituitary hormone deficiency is defined as the impaired production of growth hormone and one or more of the other five anterior pituitary hormones. CPHD6 patients manifest neonatal hypoglycemia, and deficiencies of growth hormone, thyroid-stimulating hormone, luteinizing hormone, follicle stimulating hormone and adrenocorticotropic hormone.

MalaCards based summary : Pituitary Hormone Deficiency, Combined, 6, is also known as pituitary hormone deficiency, combined 6. An important gene associated with Pituitary Hormone Deficiency, Combined, 6 is OTX2 (Orthodenticle Homeobox 2). Affiliated tissues include pituitary and thyroid, and related phenotypes are short stature and ectopic posterior pituitary

Description from OMIM: 613986

Sources

Related Diseases for Pituitary Hormone Deficiency, Combined, 6

Sources

Symptoms & Phenotypes for Pituitary Hormone Deficiency, Combined, 6

Human phenotypes related to Pituitary Hormone Deficiency, Combined, 6:

³³

#	Description	HPO Frequency	HPO Source Accession
1	short stature ³³		HP:0004322
2	ectopic posterior pituitary ³³		HP:0011755

Symptoms via clinical synopsis from OMIM:

⁵⁸

Growth Height:
short stature

Endocrine Features:
pituitary hormone deficiencies

Neurologic Central Nervous System:
ectopic posterior pituitary
pituitary hypoplasia

Clinical features from OMIM:

613986

Sources

Drugs & Therapeutics for Pituitary Hormone Deficiency, Combined, 6

Search Clinical Trials , NIH Clinical Center for Pituitary Hormone Deficiency, Combined, 6

Sources

Genetic Tests for Pituitary Hormone Deficiency, Combined, 6

Genetic tests related to Pituitary Hormone Deficiency, Combined, 6:

#	Genetic test	Affiliating Genes
1	Pituitary Hormone Deficiency, Combined 6 ³⁰	OTX2

Sources

Anatomical Context for Pituitary Hormone Deficiency, Combined, 6

MalaCards organs/tissues related to Pituitary Hormone Deficiency, Combined, 6:

⁴²

Pituitary, Thyroid

Sources

Publications for Pituitary Hormone Deficiency, Combined, 6

Sources

Genes for Pituitary Hormone Deficiency, Combined, 6

Genes related to Pituitary Hormone Deficiency, Combined, 6 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	OTX2	Orthodenticle Homeobox 2	Protein Coding	1328.48	Molecular basis known ⁵⁸ Pathogenic ⁶ Causative variation ⁷⁶ Genetic Tests ³⁰ GeneCards inferred via : Disorders Variants (show sections)	18728160

Sources

Variations for Pituitary Hormone Deficiency, Combined, 6

UniProtKB/Swiss-Prot genetic disease variations for Pituitary Hormone Deficiency, Combined, 6:

⁷⁶

#	Symbol	AA change	Variation ID	SNP ID
1	OTX2	p.Asn225Ser	VAR_065953	rs370761964

ClinVar genetic disease variations for Pituitary Hormone Deficiency, Combined, 6:

⁶

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	OTX2	NM_172337.2(OTX2): c.674A> G (p.Asn225Ser)	single nucleotide variant	Pathogenic	rs370761964	GRCh37	Chromosome 14, 57268649: 57268649
2	OTX2	NM_172337.2(OTX2): c.674A> G (p.Asn225Ser)	single nucleotide variant	Pathogenic	rs370761964	GRCh38	Chromosome 14, 56801931: 56801931

Sources

Expression for Pituitary Hormone Deficiency, Combined, 6

Search GEO for disease gene expression data for Pituitary Hormone Deficiency, Combined, 6.

Sources

Pathways for Pituitary Hormone Deficiency, Combined, 6

Sources

GO Terms for Pituitary Hormone Deficiency, Combined, 6

Sources

Sources for Pituitary Hormone Deficiency, Combined, 6

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

Pituitary Hormone Deficiency, Combined, 6 (CPHD6)

Aliases & Classifications for Pituitary Hormone Deficiency, Combined, 6

MalaCards integrated aliases for Pituitary Hormone Deficiency, Combined, 6:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Pituitary Hormone Deficiency, Combined, 6

Related Diseases for Pituitary Hormone Deficiency, Combined, 6

Symptoms & Phenotypes for Pituitary Hormone Deficiency, Combined, 6

Human phenotypes related to Pituitary Hormone Deficiency, Combined, 6:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Drugs & Therapeutics for Pituitary Hormone Deficiency, Combined, 6

Genetic Tests for Pituitary Hormone Deficiency, Combined, 6

Genetic tests related to Pituitary Hormone Deficiency, Combined, 6:

Anatomical Context for Pituitary Hormone Deficiency, Combined, 6

MalaCards organs/tissues related to Pituitary Hormone Deficiency, Combined, 6:

Publications for Pituitary Hormone Deficiency, Combined, 6

Genes for Pituitary Hormone Deficiency, Combined, 6

Genes related to Pituitary Hormone Deficiency, Combined, 6 (1 elite genes):

Variations for Pituitary Hormone Deficiency, Combined, 6

UniProtKB/Swiss-Prot genetic disease variations for Pituitary Hormone Deficiency, Combined, 6:

ClinVar genetic disease variations for Pituitary Hormone Deficiency, Combined, 6:

Expression for Pituitary Hormone Deficiency, Combined, 6

Pathways for Pituitary Hormone Deficiency, Combined, 6

GO Terms for Pituitary Hormone Deficiency, Combined, 6

Sources for Pituitary Hormone Deficiency, Combined, 6