Prop1-Related Combined Pituitary Hormone Deficiency disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: PRP035 MIFTS: 10	Prop1-Related Combined Pituitary Hormone Deficiency Categories: Endocrine diseases
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Aliases & Classifications for Prop1-Related Combined Pituitary Hormone Deficiency

MalaCards integrated aliases for Prop1-Related Combined Pituitary Hormone Deficiency:

Name: Prop1-Related Combined Pituitary Hormone Deficiency ²⁴

Prop1-Related Cphd ²⁴

Characteristics:

GeneReviews:

²⁴

Penetrance The clinical phenotype of prop1-related cphd is variable, even among individuals with the same pathogenic variants. variation is observed in the age at diagnosis and the severity of findings resulting from deficiencies of gh, tsh, lh, fsh, and prl [flück et al 1998]....

Classifications:

MalaCards categories:
Anatomical: Endocrine diseases

See all MalaCards categories (disease lists)

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Summaries for Prop1-Related Combined Pituitary Hormone Deficiency

MalaCards based summary : Prop1-Related Combined Pituitary Hormone Deficiency, also known as prop1-related cphd, is related to pituitary hormone deficiency, combined, 2 and hypothyroidism, congenital, nongoitrous, 4. An important gene associated with Prop1-Related Combined Pituitary Hormone Deficiency is PROP1 (PROP Paired-Like Homeobox 1). Affiliated tissues include pituitary.

GeneReviews: NBK1347

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Related Diseases for Prop1-Related Combined Pituitary Hormone Deficiency

Diseases related to Prop1-Related Combined Pituitary Hormone Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

#	Related Disease	Score
1	pituitary hormone deficiency, combined, 2	10.3
2	hypothyroidism, congenital, nongoitrous, 4	10.3
3	hypothyroidism	10.3
4	combined pituitary hormone deficiency	10.3

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Symptoms & Phenotypes for Prop1-Related Combined Pituitary Hormone Deficiency

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Drugs & Therapeutics for Prop1-Related Combined Pituitary Hormone Deficiency

Search Clinical Trials , NIH Clinical Center for Prop1-Related Combined Pituitary Hormone Deficiency

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Genetic Tests for Prop1-Related Combined Pituitary Hormone Deficiency

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Anatomical Context for Prop1-Related Combined Pituitary Hormone Deficiency

MalaCards organs/tissues related to Prop1-Related Combined Pituitary Hormone Deficiency:

⁴⁰

Pituitary

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Publications for Prop1-Related Combined Pituitary Hormone Deficiency

Articles related to Prop1-Related Combined Pituitary Hormone Deficiency:

(show top 50) (show all 57)

#	Title	Authors	PMID	Year
1	High prevalence of PROP1 defects in Lithuania: phenotypic findings in an ethnically homogenous cohort of patients with multiple pituitary hormone deficiency. ²⁴	Navardauskaite R...Lebl J	24178788	2014
2	Detection of genetic hypopituitarism in an adult population of idiopathic pituitary insufficiency patients with growth hormone deficiency. ²⁴	Nystrom HF...Brue T	21132537	2011
3	A novel HESX1 splice mutation causes isolated GH deficiency by interfering with mRNA processing. ²⁴	Vivenza D...Bona G	21325470	2011
4	Pituitary transcription factors in the aetiology of combined pituitary hormone deficiency. ²⁴	Pfaffle R...Klammt J	21396574	2011
5	Pituitary stalk dysgenesis-induced hypopituitarism in adult patients: prevalence, evolution of hormone dysfunction and genetic analysis. ²⁴	Fernandez-Rodriguez E...Bernabeu I	21304225	2011
6	Mutation and gene copy number analyses of six pituitary transcription factor genes in 71 patients with combined pituitary hormone deficiency: identification of a single patient with LHX4 deletion. ²⁴	Dateki S...Ogata T	20534763	2010
7	A novel loss-of-function mutation in OTX2 in a patient with anophthalmia and isolated growth hormone deficiency. ²⁴	Ashkenazi-Hoffnung L...Gat-Yablonski G	20396904	2010
8	A large deletion of PROP1 gene in patients with combined pituitary hormone deficiency from two unrelated Chinese pedigrees. ²⁴	Zhang H...Shi D	20395664	2010
9	PROP1, HESX1, POU1F1, LHX3 and LHX4 mutation and deletion screening and GH1 P89L and IVS3+1/+2 mutation screening in a Dutch nationwide cohort of patients with combined pituitary hormone deficiency. ²⁴	de Graaff LC...Hokken-Koelega AC	20389107	2010
10	Molecular analysis of novel PROP1 mutations associated with combined pituitary hormone deficiency (CPHD). ²⁴	Kelberman D...Dattani MT	19128366	2009
11	A novel dominant negative mutation of OTX2 associated with combined pituitary hormone deficiency. ²⁴	Diaczok D...Radovick S	18728160	2008
12	Consensus guidelines for the diagnosis and treatment of adults with GH deficiency II: a statement of the GH Research Society in association with the European Society for Pediatric Endocrinology, Lawson Wilkins Society, European Society of Endocrinology, Japan Endocrine Society, and Endocrine Society of Australia. ²⁴	Ho KK...2007 GH Deficiency Consensus Workshop Participants	18057375	2007
13	Molecular analysis of PROP1, PIT1, HESX1, LHX3, and LHX4 shows high frequency of PROP1 mutations in patients with familial forms of combined pituitary hormone deficiency. ²⁴	Vieira TC...Abucham J	18157385	2007
14	Hypothalamic and pituitary development: novel insights into the aetiology. ²⁴	Kelberman D...Dattani MT	17785694	2007
15	MRI findings and genotype analysis in patients with childhood onset growth hormone deficiency--correlation with severity of hypopituitarism. ²⁴	Zimmermann A...Bettendorf M	17642419	2007
16	Prediction of adult height in growth-hormone-treated children with growth hormone deficiency. ²⁴	de Ridder MA...Hokken-Koelega AC	17179199	2007
17	HESX1 mutations are an uncommon cause of septooptic dysplasia and hypopituitarism. ²⁴	McNay DE...Dattani MT	17148560	2007
18	High prevalence of PROP1 gene mutations in Hungarian patients with childhood-onset combined anterior pituitary hormone deficiency. ²⁴	Halasz Z...Racz K	17526936	2006
19	PROP1 gene analysis in Portuguese patients with combined pituitary hormone deficiency. ²⁴	Lemos MC...Carvalheiro M	16984240	2006
20	Combined pituitary hormone deficiency (CPHD) due to a complete PROP1 deletion. ²⁴	Abrao MG...Mendonca BB	16918947	2006
21	Genetic screening of combined pituitary hormone deficiency: experience in 195 patients. ²⁴	Reynaud R...Barlier A	16735499	2006
22	Congenital combined pituitary hormone deficiency attributable to a novel PROP1 mutation (467insT). ²⁴	Nose O...Amino N	16759034	2006
23	Auxological and endocrine phenotype in a population-based cohort of patients with PROP1 gene defects. ²⁴	Lebl J...Blum WF	16131601	2005
24	An uncommon phenotype with familial central hypogonadism caused by a novel PROP1 gene mutant truncated in the transactivation domain. ²⁴	Reynaud R...Brue T	15941866	2005
25	Mutations within the transcription factor PROP1 are rare in a cohort of patients with sporadic combined pituitary hormone deficiency (CPHD). ²⁴	Turton JP...Dattani MT	15963055	2005
26	Over- and underdosage of SOX3 is associated with infundibular hypoplasia and hypopituitarism. ²⁴	Woods KS...Dattani MT	15800844	2005
27	Mutation analysis of POUF-1, PROP-1 and HESX-1 show low frequency of mutations in children with sporadic forms of combined pituitary hormone deficiency and septo-optic dysplasia. ²⁴	Rainbow LA...Kirk JM	15670191	2005
28	A novel PROP1 gene mutation (157delA) in Japanese siblings with combined anterior pituitary hormone deficiency. ²⁴	Tatsumi KI...Amino N	15521968	2004
29	A familial form of congenital hypopituitarism due to a PROP1 mutation in a large kindred: phenotypic and in vitro functional studies. ²⁴	Reynaud R...Brue T	15531542	2004
30	PROP1 mutations cause progressive deterioration of anterior pituitary function including adrenal insufficiency: a longitudinal analysis. ²⁴	Bottner A...Pfaffle RW	15472232	2004
31	Array comparative genomic hybridisation analysis of boys with X linked hypopituitarism identifies a 3.9 Mb duplicated critical region at Xq27 containing SOX3. ²⁴	Solomon NM...Thomas PQ	15342697	2004
32	Ovulation induction and successful pregnancy outcome in two patients with Prop1 gene mutations. ²⁴	Voutetakis A...Messinis IE	15302300	2004
33	Conserved amino acid sequences confer nuclear localization upon the Prophet of Pit-1 pituitary transcription factor protein. ²⁴	Guy JC...Rhodes SJ	15246537	2004
34	Pituitary magnetic resonance imaging in 15 patients with Prop1 gene mutations: pituitary enlargement may originate from the intermediate lobe. ²⁴	Voutetakis A...Dacou-Voutetakis C	15126542	2004
35	Prolonged jaundice and hypothyroidism as the presenting symptoms in a neonate with a novel Prop1 gene mutation (Q83X). ²⁴	Voutetakis A...Sertedaki A	15012608	2004
36	Loss-of-function mutations in the human GLI2 gene are associated with pituitary anomalies and holoprosencephaly-like features. ²⁴	Roessler E...Muenke M	14581620	2003
37	Enhanced repression by HESX1 as a cause of hypopituitarism and septooptic dysplasia. ²⁴	Cohen RN...Radovick S	14557462	2003
38	Two new PROP1 gene mutations responsible for compound pituitary hormone deficiency. ²⁴	Paracchini R...Bona G	12859410	2003
39	Combined pituitary hormone deficiency in Australian children: clinical and genetic correlates. ²⁴	McLennan K...Choong C	12780757	2003
40	Clinical characteristics and molecular analysis of PIT1, PROP1,LHX3, and HESX1 in combined pituitary hormone deficiency patients with abnormal pituitary MR imaging. ²⁴	Kim SS...Yoo HW	14646405	2003
41	Pituitary magnetic resonance imaging and function in patients with growth hormone deficiency with and without mutations in GHRH-R, GH-1, or PROP-1 genes. ²⁴	Osorio MG...Arnhold IJ	12414875	2002
42	Longitudinal imaging reveals pituitary enlargement preceding hypoplasia in two brothers with combined pituitary hormone deficiency attributable to PROP1 mutation. ²⁴	Riepe FG...Sippell WG	11549674	2001
43	PROP1 gene screening in patients with multiple pituitary hormone deficiency reveals two sites of hypermutability and a high incidence of corticotroph deficiency. ²⁴	Vallette-Kasic S...Brue T	11549703	2001
44	Consensus guidelines for the diagnosis and treatment of growth hormone (GH) deficiency in childhood and adolescence: summary statement of the GH Research Society. GH Research Society. ²⁴	Growth Hormone Research Society	11095419	2000
45	Impaired adrenocorticotropin-adrenal axis in combined pituitary hormone deficiency caused by a two-base pair deletion (301-302delAG) in the prophet of Pit-1 gene. ²⁴	Pernasetti F...Mellon PL	10634415	2000
46	"Hot spot" in the PROP1 gene responsible for combined pituitary hormone deficiency. ²⁴	Deladoey J...Mullis PE	10323394	1999
47	Longitudinal hormonal and pituitary imaging changes in two females with combined pituitary hormone deficiency due to deletion of A301,G302 in the PROP1 gene. ²⁴	Mendonca BB...Arnhold IJ	10084575	1999
48	Phenotypic variability in familial combined pituitary hormone deficiency caused by a PROP1 gene mutation resulting in the substitution of Arg-->Cys at codon 120 (R120C). ²⁴	Fluck C...Mullis PE	9768691	1998
49	Mutations in the homeobox gene HESX1/Hesx1 associated with septo-optic dysplasia in human and mouse. ²⁴	Dattani MT...Robinson IC	9620767	1998
50	A mutational hot spot in the Prop-1 gene in Russian children with combined pituitary hormone deficiency. ²⁴	Fofanova OV...Yamashita S	11081182	1998

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Genes for Prop1-Related Combined Pituitary Hormone Deficiency

Genes related to Prop1-Related Combined Pituitary Hormone Deficiency (0 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	PROP1	PROP Paired-Like Homeobox 1	Protein Coding	7.52	GeneCards inferred via : Publications (show sections)

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Variations for Prop1-Related Combined Pituitary Hormone Deficiency

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Expression for Prop1-Related Combined Pituitary Hormone Deficiency

Search GEO for disease gene expression data for Prop1-Related Combined Pituitary Hormone Deficiency.

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Pathways for Prop1-Related Combined Pituitary Hormone Deficiency

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GO Terms for Prop1-Related Combined Pituitary Hormone Deficiency

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