MCID: PRP035
MIFTS: 15

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 25 6
Prop1-Related Cphd 25

Characteristics:

GeneReviews:

25
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 hypothyroidism, congenital, nongoitrous, 4 and penis agenesis. 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 hypothyroidism, congenital, nongoitrous, 4 10.3
2 penis agenesis 10.3

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:

40
Pituitary

Publications for Prop1-Related Combined Pituitary Hormone Deficiency

Articles related to Prop1-Related Combined Pituitary Hormone Deficiency:

(show top 50) (show all 65)
# Title Authors PMID Year
1
An uncommon phenotype with familial central hypogonadism caused by a novel PROP1 gene mutant truncated in the transactivation domain. 25 6
15941866 2005
2
A familial form of congenital hypopituitarism due to a PROP1 mutation in a large kindred: phenotypic and in vitro functional studies. 25 6
15531542 2004
3
PROP1 gene screening in patients with multiple pituitary hormone deficiency reveals two sites of hypermutability and a high incidence of corticotroph deficiency. 6 25
11549703 2001
4
Longitudinal imaging reveals pituitary enlargement preceding hypoplasia in two brothers with combined pituitary hormone deficiency attributable to PROP1 mutation. 6 25
11549674 2001
5
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. 25 6
10634415 2000
6
Longitudinal hormonal and pituitary imaging changes in two females with combined pituitary hormone deficiency due to deletion of A301,G302 in the PROP1 gene. 25 6
10084575 1999
7
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). 6 25
9768691 1998
8
Mutations in PROP1 cause familial combined pituitary hormone deficiency. 6 25
9462743 1998
9
Long-term growth hormone therapy in adulthood results in significant linear growth in siblings with a PROP-1 gene mutation. 6
15472175 2004
10
Familial combined pituitary hormone deficiency due to a novel mutation R99Q in the hot spot region of Prophet of Pit-1 presenting as constitutional growth delay. 6
12519826 2003
11
Adrenocorticotropin deficiency in combined pituitary hormone deficiency patients homozygous for a novel PROP1 deletion. 6
11134108 2000
12
Combined pituitary hormone deficiency caused by a novel mutation of a highly conserved residue (F88S) in the homeodomain of PROP-1. 6
10946881 2000
13
Human Prop-1: cloning, mapping, genomic structure. Mutations in familial combined pituitary hormone deficiency. 6
9824293 1998
14
The PROP1 2-base pair deletion is a common cause of combined pituitary hormone deficiency. 6
9745452 1998
15
Compound heterozygous deletion of the PROP-1 gene in children with combined pituitary hormone deficiency. 6
9661653 1998
16
General Tom Thumb and other midgets. 6
6046325 1967
17
High prevalence of PROP1 defects in Lithuania: phenotypic findings in an ethnically homogenous cohort of patients with multiple pituitary hormone deficiency. 25
24178788 2014
18
Detection of genetic hypopituitarism in an adult population of idiopathic pituitary insufficiency patients with growth hormone deficiency. 25
21132537 2011
19
A novel HESX1 splice mutation causes isolated GH deficiency by interfering with mRNA processing. 25
21325470 2011
20
Pituitary transcription factors in the aetiology of combined pituitary hormone deficiency. 25
21396574 2011
21
Pituitary stalk dysgenesis-induced hypopituitarism in adult patients: prevalence, evolution of hormone dysfunction and genetic analysis. 25
21304225 2011
22
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. 25
20534763 2010
23
A novel loss-of-function mutation in OTX2 in a patient with anophthalmia and isolated growth hormone deficiency. 25
20396904 2010
24
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. 25
20389107 2010
25
A large deletion of PROP1 gene in patients with combined pituitary hormone deficiency from two unrelated Chinese pedigrees. 25
20395664 2010
26
Molecular analysis of novel PROP1 mutations associated with combined pituitary hormone deficiency (CPHD). 25
19128366 2009
27
A novel dominant negative mutation of OTX2 associated with combined pituitary hormone deficiency. 25
18728160 2008
28
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. 25
18057375 2007
29
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. 25
18157385 2007
30
Hypothalamic and pituitary development: novel insights into the aetiology. 25
17785694 2007
31
MRI findings and genotype analysis in patients with childhood onset growth hormone deficiency--correlation with severity of hypopituitarism. 25
17642419 2007
32
Prediction of adult height in growth-hormone-treated children with growth hormone deficiency. 25
17179199 2007
33
HESX1 mutations are an uncommon cause of septooptic dysplasia and hypopituitarism. 25
17148560 2007
34
High prevalence of PROP1 gene mutations in Hungarian patients with childhood-onset combined anterior pituitary hormone deficiency. 25
17526936 2006
35
PROP1 gene analysis in Portuguese patients with combined pituitary hormone deficiency. 25
16984240 2006
36
Genetic screening of combined pituitary hormone deficiency: experience in 195 patients. 25
16735499 2006
37
Combined pituitary hormone deficiency (CPHD) due to a complete PROP1 deletion. 25
16918947 2006
38
Congenital combined pituitary hormone deficiency attributable to a novel PROP1 mutation (467insT). 25
16759034 2006
39
Auxological and endocrine phenotype in a population-based cohort of patients with PROP1 gene defects. 25
16131601 2005
40
Mutations within the transcription factor PROP1 are rare in a cohort of patients with sporadic combined pituitary hormone deficiency (CPHD). 25
15963055 2005
41
Over- and underdosage of SOX3 is associated with infundibular hypoplasia and hypopituitarism. 25
15800844 2005
42
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. 25
15670191 2005
43
A novel PROP1 gene mutation (157delA) in Japanese siblings with combined anterior pituitary hormone deficiency. 25
15521968 2004
44
PROP1 mutations cause progressive deterioration of anterior pituitary function including adrenal insufficiency: a longitudinal analysis. 25
15472232 2004
45
Array comparative genomic hybridisation analysis of boys with X linked hypopituitarism identifies a 3.9 Mb duplicated critical region at Xq27 containing SOX3. 25
15342697 2004
46
Ovulation induction and successful pregnancy outcome in two patients with Prop1 gene mutations. 25
15302300 2004
47
Conserved amino acid sequences confer nuclear localization upon the Prophet of Pit-1 pituitary transcription factor protein. 25
15246537 2004
48
Pituitary magnetic resonance imaging in 15 patients with Prop1 gene mutations: pituitary enlargement may originate from the intermediate lobe. 25
15126542 2004
49
Prolonged jaundice and hypothyroidism as the presenting symptoms in a neonate with a novel Prop1 gene mutation (Q83X). 25
15012608 2004
50
Loss-of-function mutations in the human GLI2 gene are associated with pituitary anomalies and holoprosencephaly-like features. 25
14581620 2003

Variations for Prop1-Related Combined Pituitary Hormone Deficiency

ClinVar genetic disease variations for Prop1-Related Combined Pituitary Hormone Deficiency:

6 (show top 50) (show all 79)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PROP1 NM_006261.4(PROP1):c.295C>T (p.Arg99Ter) SNV Pathogenic 8105 rs121917844 5:177421154-177421154 5:177994153-177994153
2 PROP1 NM_006261.4(PROP1):c.218G>A (p.Arg73His) SNV Pathogenic 8103 rs121917842 5:177421231-177421231 5:177994230-177994230
3 PROP1 NM_006261.4(PROP1):c.112_124del (p.Ser38fs) Deletion Pathogenic 8101 rs587776682 5:177421325-177421337 5:177994324-177994336
4 PROP1 NM_006261.4(PROP1):c.263T>C (p.Phe88Ser) SNV Pathogenic 8100 rs121917841 5:177421186-177421186 5:177994185-177994185
5 PROP1 NM_006261.4(PROP1):c.150_151del (p.Gly52fs) Deletion Pathogenic 8097 rs587776681 5:177421298-177421299 5:177994297-177994298
6 PROP1 PROP1, 1-BP DEL, CODON 50, EX2 Deletion Pathogenic 889994
7 PROP1 NM_006261.4(PROP1):c.301_302del Microsatellite Pathogenic 8098 rs193922688 5:177421147-177421148 5:177994146-177994147
8 PROP1 NM_006261.4(PROP1):c.150del (p.Arg53fs) Deletion Pathogenic 8102 rs587776683 5:177421299-177421299 5:177994298-177994298
9 PROP1 NM_006261.4(PROP1):c.217C>T (p.Arg73Cys) SNV Pathogenic 8104 rs121917843 5:177421232-177421232 5:177994231-177994231
10 PROP1 NM_006261.4(PROP1):c.342+1G>A SNV Likely pathogenic 553577 rs1436089021 5:177421106-177421106 5:177994105-177994105
11 PROP1 NM_006261.4(PROP1):c.70_71GA[4] (p.His26fs) Microsatellite Likely pathogenic 557723 rs1554182632 5:177422859-177422860 5:177995858-177995859
12 PROP1 NM_006261.4(PROP1):c.340C>T (p.Gln114Ter) SNV Likely pathogenic 558722 rs1554182481 5:177421109-177421109 5:177994108-177994108
13 PROP1 NM_006261.4(PROP1):c.109+1G>T SNV Likely pathogenic 631963 rs1214465435 5:177422825-177422825 5:177995824-177995824
14 PROP1 NM_006261.4(PROP1):c.349T>A (p.Phe117Ile) SNV Likely pathogenic 8096 rs121917840 5:177420042-177420042 5:177993041-177993041
15 PROP1 NM_006261.4(PROP1):c.358C>T (p.Arg120Cys) SNV Likely pathogenic 8095 rs121917839 5:177420033-177420033 5:177993032-177993032
16 PROP1 NM_006261.4(PROP1):c.156dup (p.Arg53fs) Duplication Likely pathogenic 557212 rs1554182514 5:177421292-177421293 5:177994291-177994292
17 PROP1 NM_006261.4(PROP1):c.384_385GC[3] (p.Ser130fs) Microsatellite Likely pathogenic 557236 rs1554182405 5:177420003-177420004 5:177993002-177993003
18 PROP1 NM_006261.4(PROP1):c.557del (p.Ala186fs) Deletion Likely pathogenic 371561 rs762529663 5:177419834-177419834 5:177992833-177992833
19 PROP1 NM_006261.4(PROP1):c.390_391del (p.Leu131fs) Deletion Likely pathogenic 371125 rs1057517027 5:177420000-177420001 5:177992999-177993000
20 PROP1 NM_006261.4(PROP1):c.110-2A>G SNV Likely pathogenic 370889 rs1057516846 5:177421341-177421341 5:177994340-177994340
21 PROP1 NM_006261.4(PROP1):c.197dup (p.His67fs) Duplication Likely pathogenic 371631 rs1057517424 5:177421251-177421252 5:177994250-177994251
22 PROP1 NM_006261.4(PROP1):c.288_289del (p.Ile96fs) Deletion Likely pathogenic 370872 rs1057516832 5:177421160-177421161 5:177994159-177994160
23 PROP1 NM_006261.4(PROP1):c.343-2A>T SNV Likely pathogenic 371145 rs1057517041 5:177420050-177420050 5:177993049-177993049
24 PROP1 NM_006261.4(PROP1):c.3G>C (p.Met1Ile) SNV Likely pathogenic 424617 rs1064797071 5:177422932-177422932 5:177995931-177995931
25 PROP1 NM_006261.4(PROP1):c.2T>C (p.Met1Thr) SNV Likely pathogenic 551288 rs1554182645 5:177422933-177422933 5:177995932-177995932
26 PROP1 NM_006261.4(PROP1):c.191dup (p.Arg65fs) Duplication Likely pathogenic 551422 rs1554182507 5:177421257-177421258 5:177994256-177994257
27 PROP1 NM_006261.4(PROP1):c.582G>A (p.Trp194Ter) SNV Likely pathogenic 8107 rs121917845 5:177419809-177419809 5:177992808-177992808
28 PROP1 NM_006261.4(PROP1):c.274C>T (p.Gln92Ter) SNV Likely pathogenic 161433 rs794726693 5:177421175-177421175 5:177994174-177994174
29 PROP1 NM_006261.4(PROP1):c.334C>T (p.Arg112Ter) SNV Likely pathogenic 188982 rs766673446 5:177421115-177421115 5:177994114-177994114
30 PROP1 NM_006261.4(PROP1):c.310del (p.Arg104fs) Deletion Likely pathogenic 189062 rs786204663 5:177421139-177421139 5:177994138-177994138
31 PROP1 NM_006261.4(PROP1):c.623dup (p.Cys208fs) Duplication Uncertain significance 353012 rs886060474 5:177419767-177419768 5:177992766-177992767
32 PROP1 NM_006261.4(PROP1):c.109+13C>T SNV Uncertain significance 353015 rs759210335 5:177422813-177422813 5:177995812-177995812
33 PROP1 NM_006261.4(PROP1):c.-302G>A SNV Uncertain significance 353021 rs150629697 5:177423236-177423236 5:177996235-177996235
34 PROP1 NM_006261.4(PROP1):c.*468C>T SNV Uncertain significance 353007 rs886060473 5:177419242-177419242 5:177992241-177992241
35 PROP1 NM_006261.4(PROP1):c.618G>A (p.Leu206=) SNV Uncertain significance 353013 rs765098843 5:177419773-177419773 5:177992772-177992772
36 PROP1 NM_006261.4(PROP1):c.*52G>A SNV Uncertain significance 353011 rs2233787 5:177419658-177419658 5:177992657-177992657
37 PROP1 NM_006261.4(PROP1):c.592T>C (p.Leu198=) SNV Uncertain significance 286901 rs780774091 5:177419799-177419799 5:177992798-177992798
38 PROP1 NM_006261.4(PROP1):c.335G>A (p.Arg112Gln) SNV Uncertain significance 353014 rs201266211 5:177421114-177421114 5:177994113-177994113
39 PROP1 NM_006261.4(PROP1):c.-260A>T SNV Uncertain significance 353020 rs886060476 5:177423194-177423194 5:177996193-177996193
40 PROP1 NM_006261.4(PROP1):c.652dup (p.Ser218fs) Duplication Uncertain significance 552012 rs1554182363 5:177419738-177419739 5:177992737-177992738
41 PROP1 NM_006261.4(PROP1):c.20_22dup (p.Arg7dup) Duplication Uncertain significance 552210 rs1554182643 5:177422912-177422913 5:177995911-177995912
42 PROP1 NM_006261.4(PROP1):c.373C>T (p.Arg125Trp) SNV Uncertain significance 552692 rs146918863 5:177420018-177420018 5:177993017-177993017
43 PROP1 NM_006261.4(PROP1):c.629dup (p.Pro211fs) Duplication Uncertain significance 557462 rs761018422 5:177419761-177419762 5:177992760-177992761
44 PROP1 NM_006261.4(PROP1):c.152G>T (p.Gly51Val) SNV Uncertain significance 742937 rs2233783 5:177421297-177421297 5:177994296-177994296
45 PROP1 NM_006261.4(PROP1):c.110-8G>A SNV Uncertain significance 748874 rs377698903 5:177421347-177421347 5:177994346-177994346
46 PROP1 NM_006261.4(PROP1):c.611del (p.Gly204fs) Deletion Uncertain significance 557824 rs1554182368 5:177419780-177419780 5:177992779-177992779
47 PROP1 NM_006261.4(PROP1):c.37_39AAG[1] (p.Lys14del) Microsatellite Uncertain significance 555076 rs1554182637 5:177422893-177422895 5:177995892-177995894
48 PROP1 NM_006261.5(PROP1):c.197C>T (p.Pro66Leu) SNV Uncertain significance 904626 5:177421252-177421252 5:177994251-177994251
49 PROP1 NM_006261.5(PROP1):c.156G>A (p.Gly52=) SNV Uncertain significance 904627 5:177421293-177421293 5:177994292-177994292
50 PROP1 NM_006261.5(PROP1):c.46C>G (p.Arg16Gly) SNV Uncertain significance 905418 5:177422889-177422889 5:177995888-177995888

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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