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 ⁷² ¹³ ⁷⁰

Pituitary Hormone Deficiency, Combined 6 ²⁹ ⁶

Cphd6 ⁵⁷ ⁷²

Hormone Deficiency, Pituitary, Combined, Type 6 ³⁹

Characteristics:

OMIM®:

⁵⁷ (Updated 20-May-2021)

Inheritance:
autosomal dominant

HPO:

³¹

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

OMIM Phenotypic Series ⁵⁷ PS613038

MeSH ⁴⁴ D007018

MedGen ⁴¹ C3151440

SNOMED-CT via HPO ⁶⁸ 237836003 263681008 715727009

UMLS ⁷⁰ C3151440

Sources

Summaries for Pituitary Hormone Deficiency, Combined, 6

UniProtKB/Swiss-Prot : ⁷² 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 related phenotypes are short stature and ectopic posterior pituitary

More information from OMIM: 613986 PS613038

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:

³¹

#	Description	HPO Frequency	HPO Source Accession
1	short stature ³¹		HP:0004322
2	ectopic posterior pituitary ³¹		HP:0011755

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 20-May-2021)

Growth Height:
short stature

Endocrine Features:
pituitary hormone deficiencies

Neurologic Central Nervous System:
ectopic posterior pituitary
pituitary hypoplasia

Clinical features from OMIM®:

613986 (Updated 20-May-2021)

Sources

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

Sources

Anatomical Context for Pituitary Hormone Deficiency, Combined, 6

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

⁴⁰

Pituitary

Sources

Publications for Pituitary Hormone Deficiency, Combined, 6

Articles related to Pituitary Hormone Deficiency, Combined, 6:

#	Title	Authors	PMID	Year
1	A novel dominant negative mutation of OTX2 associated with combined pituitary hormone deficiency. ⁵⁷ ⁶	Diaczok D...Radovick S	18728160	2008

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	PubMed IDs
1	OTX2	Orthodenticle Homeobox 2	Protein Coding	1319.11	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷² Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	18728160

Sources

Variations for Pituitary Hormone Deficiency, Combined, 6

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

⁶ (show all 32)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	OTX2	NM_021728.4(OTX2):c.698A>G (p.Asn233Ser)	SNV	Pathogenic	30023	rs370761964	GRCh37: 14:57268649-57268649 GRCh38: 14:56801931-56801931
2	OTX2	NM_021728.4(OTX2):c.270G>T (p.Val90=)	SNV	Uncertain significance	313421	rs747916036	GRCh37: 14:57270909-57270909 GRCh38: 14:56804191-56804191
3	OTX2	NM_021728.4(OTX2):c.273+11T>C	SNV	Uncertain significance	313420	rs371958059	GRCh37: 14:57270895-57270895 GRCh38: 14:56804177-56804177
4	OTX2	NM_021728.4(OTX2):c.464C>G (p.Ala155Gly)	SNV	Uncertain significance	881937		GRCh37: 14:57268883-57268883 GRCh38: 14:56802165-56802165
5	OTX2	NM_021728.4(OTX2):c.444G>A (p.Pro148=)	SNV	Uncertain significance	881938		GRCh37: 14:57268903-57268903 GRCh38: 14:56802185-56802185
6	OTX2	NM_021728.4(OTX2):c.406A>G (p.Ser136Gly)	SNV	Uncertain significance	883118		GRCh37: 14:57268941-57268941 GRCh38: 14:56802223-56802223
7	OTX2	NM_021728.4(OTX2):c.730G>A (p.Ala244Thr)	SNV	Uncertain significance	1029266		GRCh37: 14:57268617-57268617 GRCh38: 14:56801899-56801899
8	OTX2	NM_021728.4(OTX2):c.*648C>G	SNV	Uncertain significance	313411	rs886050556	GRCh37: 14:57267805-57267805 GRCh38: 14:56801087-56801087
9	OTX2	NM_021728.4(OTX2):c.*764G>A	SNV	Uncertain significance	313410	rs775857186	GRCh37: 14:57267689-57267689 GRCh38: 14:56800971-56800971
10	OTX2	NM_021728.4(OTX2):c.*219G>A	SNV	Uncertain significance	313416	rs886050559	GRCh37: 14:57268234-57268234 GRCh38: 14:56801516-56801516
11	OTX2	NM_021728.4(OTX2):c.*647A>G	SNV	Uncertain significance	313412	rs886050557	GRCh37: 14:57267806-57267806 GRCh38: 14:56801088-56801088
12	OTX2	NM_021728.4(OTX2):c.*933C>T	SNV	Uncertain significance	313408	rs886050555	GRCh37: 14:57267520-57267520 GRCh38: 14:56800802-56800802
13	OTX2	NM_021728.4(OTX2):c.380G>T (p.Arg127Leu)	SNV	Uncertain significance	313418	rs199799627	GRCh37: 14:57268967-57268967 GRCh38: 14:56802249-56802249
14	OTX2	NM_021728.4(OTX2):c.-119-65G>T	SNV	Uncertain significance	313424	rs886050561	GRCh37: 14:57272358-57272358 GRCh38: 14:56805640-56805640
15	OTX2	NM_021728.4(OTX2):c.96G>T (p.Pro32=)	SNV	Uncertain significance	880601		GRCh37: 14:57272079-57272079 GRCh38: 14:56805361-56805361
16	OTX2	NM_021728.4(OTX2):c.*1018T>C	SNV	Uncertain significance	881431		GRCh37: 14:57267435-57267435 GRCh38: 14:56800717-56800717
17	OTX2	NM_021728.4(OTX2):c.*993G>C	SNV	Uncertain significance	881432		GRCh37: 14:57267460-57267460 GRCh38: 14:56800742-56800742
18	OTX2	NM_021728.4(OTX2):c.*667A>C	SNV	Uncertain significance	881870		GRCh37: 14:57267786-57267786 GRCh38: 14:56801068-56801068
19	OTX2	NM_021728.4(OTX2):c.*648C>A	SNV	Uncertain significance	883039		GRCh37: 14:57267805-57267805 GRCh38: 14:56801087-56801087
20	OTX2	NM_021728.4(OTX2):c.*543A>G	SNV	Uncertain significance	883040		GRCh37: 14:57267910-57267910 GRCh38: 14:56801192-56801192
21	OTX2	NM_021728.4(OTX2):c.425C>G (p.Pro142Arg)	SNV	Uncertain significance	803030	rs199761861	GRCh37: 14:57268922-57268922 GRCh38: 14:56802204-56802204
22	OTX2	NM_021728.4(OTX2):c.*147G>T	SNV	Uncertain significance	883822		GRCh37: 14:57268306-57268306 GRCh38: 14:56801588-56801588
23	OTX2	NM_021728.4(OTX2):c.713A>T (p.His238Leu)	SNV	Uncertain significance	881494		GRCh37: 14:57268634-57268634 GRCh38: 14:56801916-56801916
24	OTX2	NM_021728.4(OTX2):c.380G>C (p.Arg127Pro)	SNV	Uncertain significance	313419	rs199799627	GRCh37: 14:57268967-57268967 GRCh38: 14:56802249-56802249
25	OTX2	NM_021728.4(OTX2):c.641C>A (p.Thr214Asn)	SNV	Likely benign	288894	rs150982073	GRCh37: 14:57268706-57268706 GRCh38: 14:56801988-56801988
26	OTX2	NM_021728.4(OTX2):c.*316G>A	SNV	Likely benign	313415	rs142727455	GRCh37: 14:57268137-57268137 GRCh38: 14:56801419-56801419
27	OTX2	NM_021728.4(OTX2):c.840T>C (p.Ala280=)	SNV	Likely benign	760170	rs201396096	GRCh37: 14:57268507-57268507 GRCh38: 14:56801789-56801789
28	OTX2	NM_021728.4(OTX2):c.*966A>G	SNV	Benign	313407	rs57390094	GRCh37: 14:57267487-57267487 GRCh38: 14:56800769-56800769
29	OTX2	NM_021728.4(OTX2):c.97+12C>T	SNV	Benign	313422	rs28757218	GRCh37: 14:57272066-57272066 GRCh38: 14:56805348-56805348
30	OTX2	NM_021728.4(OTX2):c.459C>T (p.Ser153=)	SNV	Benign	313417	rs34537598	GRCh37: 14:57268888-57268888 GRCh38: 14:56802170-56802170
31	OTX2	NM_021728.4(OTX2):c.*779G>A	SNV	Benign	313409	rs138197536	GRCh37: 14:57267674-57267674 GRCh38: 14:56800956-56800956
32	OTX2	NM_021728.4(OTX2):c.*10G>A	SNV	Benign	288866	rs171978	GRCh37: 14:57268443-57268443 GRCh38: 14:56801725-56801725

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

⁷²

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

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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

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⁸ Cochrane Library

⁹ Cosmic

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¹¹ DGIdb

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²¹ GeneAnalytics

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²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

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⁴⁴ MeSH

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⁵⁴ Novoseek

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⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 20-May-2021)

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⁶¹ PubMed

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⁶⁴ R&D Systems

⁶⁵ Reactome

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⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ Tocris

⁷⁰ UMLS

⁷¹ UMLS via Orphanet

⁷² UniProtKB/Swiss-Prot

⁷³ 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

Articles related to 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

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

UniProtKB/Swiss-Prot 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