MCID: PRP035
MIFTS: 10

Prop1-Related Combined Pituitary Hormone Deficiency

Categories: Endocrine diseases

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 [fl├╝ck et al 1998]....

Classifications:



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 pseudovaginal perineoscrotal hypospadias. An important gene associated with Prop1-Related Combined Pituitary Hormone Deficiency is PROP1 (PROP Paired-Like Homeobox 1). Affiliated tissues include pituitary.

GeneReviews: NBK1347

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 Top Affiliating Genes
1 pituitary hormone deficiency, combined, 2 10.3
2 pseudovaginal perineoscrotal hypospadias 10.3
3 hypothyroidism, congenital, nongoitrous, 4 10.3
4 hypothyroidism 10.3
5 combined pituitary hormone deficiency 10.3

Graphical network of the top 20 diseases related to Prop1-Related Combined Pituitary Hormone Deficiency:



Diseases related to Prop1-Related Combined Pituitary Hormone Deficiency

Symptoms & Phenotypes for Prop1-Related Combined Pituitary Hormone Deficiency

Drugs & Therapeutics for Prop1-Related Combined Pituitary Hormone Deficiency

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

Genetic Tests for Prop1-Related Combined Pituitary Hormone Deficiency

Anatomical Context for Prop1-Related Combined Pituitary Hormone Deficiency

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

41
Pituitary

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. 4
24178788 2014
2
Detection of genetic hypopituitarism in an adult population of idiopathic pituitary insufficiency patients with growth hormone deficiency. 4
21132537 2011
3
A novel HESX1 splice mutation causes isolated GH deficiency by interfering with mRNA processing. 4
21325470 2011
4
Pituitary transcription factors in the aetiology of combined pituitary hormone deficiency. 4
21396574 2011
5
Pituitary stalk dysgenesis-induced hypopituitarism in adult patients: prevalence, evolution of hormone dysfunction and genetic analysis. 4
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. 4
20534763 2010
7
A novel loss-of-function mutation in OTX2 in a patient with anophthalmia and isolated growth hormone deficiency. 4
20396904 2010
8
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. 4
20389107 2010
9
A large deletion of PROP1 gene in patients with combined pituitary hormone deficiency from two unrelated Chinese pedigrees. 4
20395664 2010
10
Molecular analysis of novel PROP1 mutations associated with combined pituitary hormone deficiency (CPHD). 4
19128366 2009
11
A novel dominant negative mutation of OTX2 associated with combined pituitary hormone deficiency. 4
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. 4
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. 4
18157385 2007
14
Hypothalamic and pituitary development: novel insights into the aetiology. 4
17785694 2007
15
MRI findings and genotype analysis in patients with childhood onset growth hormone deficiency--correlation with severity of hypopituitarism. 4
17642419 2007
16
Prediction of adult height in growth-hormone-treated children with growth hormone deficiency. 4
17179199 2007
17
HESX1 mutations are an uncommon cause of septooptic dysplasia and hypopituitarism. 4
17148560 2007
18
High prevalence of PROP1 gene mutations in Hungarian patients with childhood-onset combined anterior pituitary hormone deficiency. 4
17526936 2006
19
PROP1 gene analysis in Portuguese patients with combined pituitary hormone deficiency. 4
16984240 2006
20
Genetic screening of combined pituitary hormone deficiency: experience in 195 patients. 4
16735499 2006
21
Combined pituitary hormone deficiency (CPHD) due to a complete PROP1 deletion. 4
16918947 2006
22
Congenital combined pituitary hormone deficiency attributable to a novel PROP1 mutation (467insT). 4
16759034 2006
23
Auxological and endocrine phenotype in a population-based cohort of patients with PROP1 gene defects. 4
16131601 2005
24
An uncommon phenotype with familial central hypogonadism caused by a novel PROP1 gene mutant truncated in the transactivation domain. 4
15941866 2005
25
Mutations within the transcription factor PROP1 are rare in a cohort of patients with sporadic combined pituitary hormone deficiency (CPHD). 4
15963055 2005
26
Over- and underdosage of SOX3 is associated with infundibular hypoplasia and hypopituitarism. 4
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. 4
15670191 2005
28
A novel PROP1 gene mutation (157delA) in Japanese siblings with combined anterior pituitary hormone deficiency. 4
15521968 2004
29
A familial form of congenital hypopituitarism due to a PROP1 mutation in a large kindred: phenotypic and in vitro functional studies. 4
15531542 2004
30
PROP1 mutations cause progressive deterioration of anterior pituitary function including adrenal insufficiency: a longitudinal analysis. 4
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. 4
15342697 2004
32
Ovulation induction and successful pregnancy outcome in two patients with Prop1 gene mutations. 4
15302300 2004
33
Conserved amino acid sequences confer nuclear localization upon the Prophet of Pit-1 pituitary transcription factor protein. 4
15246537 2004
34
Pituitary magnetic resonance imaging in 15 patients with Prop1 gene mutations: pituitary enlargement may originate from the intermediate lobe. 4
15126542 2004
35
Prolonged jaundice and hypothyroidism as the presenting symptoms in a neonate with a novel Prop1 gene mutation (Q83X). 4
15012608 2004
36
Loss-of-function mutations in the human GLI2 gene are associated with pituitary anomalies and holoprosencephaly-like features. 4
14581620 2003
37
Enhanced repression by HESX1 as a cause of hypopituitarism and septooptic dysplasia. 4
14557462 2003
38
Two new PROP1 gene mutations responsible for compound pituitary hormone deficiency. 4
12859410 2003
39
Combined pituitary hormone deficiency in Australian children: clinical and genetic correlates. 4
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. 4
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. 4
12414875 2002
42
Longitudinal imaging reveals pituitary enlargement preceding hypoplasia in two brothers with combined pituitary hormone deficiency attributable to PROP1 mutation. 4
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. 4
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. 4
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. 4
10634415 2000
46
"Hot spot" in the PROP1 gene responsible for combined pituitary hormone deficiency. 4
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. 4
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). 4
9768691 1998
49
Mutations in the homeobox gene HESX1/Hesx1 associated with septo-optic dysplasia in human and mouse. 4
9620767 1998
50
A mutational hot spot in the Prop-1 gene in Russian children with combined pituitary hormone deficiency. 4
11081182 1998

Variations for Prop1-Related Combined Pituitary Hormone Deficiency

Expression for Prop1-Related Combined Pituitary Hormone Deficiency

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

Pathways for Prop1-Related Combined Pituitary Hormone Deficiency

GO Terms for Prop1-Related Combined Pituitary Hormone Deficiency

Sources for Prop1-Related Combined Pituitary Hormone Deficiency

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73 UMLS via Orphanet
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