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

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Aliases & Classifications for Pituitary Hormone Deficiency, Combined, 6

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

Name: Pituitary Hormone Deficiency, Combined, 6 ⁵⁷ ⁷⁵ ¹³ ⁷³

Pituitary Hormone Deficiency, Combined 6 ²⁹ ⁶

Cphd6 ⁵⁷ ⁷⁵

Hormone Deficiency, Pituitary, Combined, Type 6 ⁴⁰

Characteristics:

OMIM:

⁵⁷

Inheritance:
autosomal dominant

HPO:

³²

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 ⁵⁷ 613986

MedGen ⁴² C3151440

MeSH ⁴⁴ D007018

SNOMED-CT via HPO ⁶⁹ 263681008 237836003 715727009

UMLS ⁷³ C3151440

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Summaries for Pituitary Hormone Deficiency, Combined, 6

UniProtKB/Swiss-Prot : ⁷⁵ 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

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Related Diseases for Pituitary Hormone Deficiency, Combined, 6

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Symptoms & Phenotypes for Pituitary Hormone Deficiency, Combined, 6

Symptoms via clinical synopsis from OMIM:

⁵⁷

Growth Height:
short stature

Endocrine Features:
pituitary hormone deficiencies

Neurologic Central Nervous System:
pituitary hypoplasia
ectopic posterior pituitary

Clinical features from OMIM:

613986

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

³²

#	Description	HPO Frequency	HPO Source Accession
1	short stature ³²		HP:0004322
2	ectopic posterior pituitary ³²		HP:0011755

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Drugs & Therapeutics for Pituitary Hormone Deficiency, Combined, 6

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

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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 ²⁹	OTX2

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Anatomical Context for Pituitary Hormone Deficiency, Combined, 6

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

⁴¹

Pituitary, Thyroid

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Publications for Pituitary Hormone Deficiency, Combined, 6

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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 ⁵⁷ Pathogenic ⁶ Causative variation ⁷⁵ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	18728160

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Variations for Pituitary Hormone Deficiency, Combined, 6

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

⁷⁵

#	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
3	OTX2	NM_172337.2(OTX2): c.402delCinsCC (p.Ser135Leufs)	indel	Pathogenic		GRCh37	Chromosome 14, 57268921: 57268921
4	OTX2	NM_172337.2(OTX2): c.402delCinsCC (p.Ser135Leufs)	indel	Pathogenic		GRCh38	Chromosome 14, 56802203: 56802203

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Expression for Pituitary Hormone Deficiency, Combined, 6

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

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Pathways for Pituitary Hormone Deficiency, Combined, 6

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GO Terms for Pituitary Hormone Deficiency, Combined, 6

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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 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