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:

(showing 2, show less)
# 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:

(showing 78, show less)
# Title Authors PMID Year
1
Detection of genetic hypopituitarism in an adult population of idiopathic pituitary insufficiency patients with growth hormone deficiency. 6 25
21132537 2011
2
Molecular analysis of novel PROP1 mutations associated with combined pituitary hormone deficiency (CPHD). 6 25
19128366 2009
3
High prevalence of PROP1 gene mutations in Hungarian patients with childhood-onset combined anterior pituitary hormone deficiency. 25 6
17526936 2006
4
PROP1 gene analysis in Portuguese patients with combined pituitary hormone deficiency. 6 25
16984240 2006
5
Genetic screening of combined pituitary hormone deficiency: experience in 195 patients. 25 6
16735499 2006
6
Auxological and endocrine phenotype in a population-based cohort of patients with PROP1 gene defects. 6 25
16131601 2005
7
An uncommon phenotype with familial central hypogonadism caused by a novel PROP1 gene mutant truncated in the transactivation domain. 6 25
15941866 2005
8
Mutations within the transcription factor PROP1 are rare in a cohort of patients with sporadic combined pituitary hormone deficiency (CPHD). 25 6
15963055 2005
9
A familial form of congenital hypopituitarism due to a PROP1 mutation in a large kindred: phenotypic and in vitro functional studies. 6 25
15531542 2004
10
PROP1 mutations cause progressive deterioration of anterior pituitary function including adrenal insufficiency: a longitudinal analysis. 6 25
15472232 2004
11
Pituitary magnetic resonance imaging in 15 patients with Prop1 gene mutations: pituitary enlargement may originate from the intermediate lobe. 6 25
15126542 2004
12
Longitudinal imaging reveals pituitary enlargement preceding hypoplasia in two brothers with combined pituitary hormone deficiency attributable to PROP1 mutation. 6 25
11549674 2001
13
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
14
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. 6 25
10634415 2000
15
"Hot spot" in the PROP1 gene responsible for combined pituitary hormone deficiency. 6 25
10323394 1999
16
Longitudinal hormonal and pituitary imaging changes in two females with combined pituitary hormone deficiency due to deletion of A301,G302 in the PROP1 gene. 6 25
10084575 1999
17
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). 25 6
9768691 1998
18
A mutational hot spot in the Prop-1 gene in Russian children with combined pituitary hormone deficiency. 25 6
11081182 1998
19
Mutations in PROP1 cause familial combined pituitary hormone deficiency. 6 25
9462743 1998
20
Molecular analysis of brazilian patients with combined pituitary hormone deficiency and orthotopic posterior pituitary lobe reveals eight different PROP1 alterations with three novel mutations. 6
28734020 2017
21
Two coexisting heterozygous frameshift mutations in PROP1 are responsible for a different phenotype of combined pituitary hormone deficiency. 6
26608600 2016
22
Cancerous leptomeningitis and familial congenital hypopituitarism. 6
26886902 2016
23
Genesis of two most prevalent PROP1 gene variants causing combined pituitary hormone deficiency in 21 populations. 6
26059845 2016
24
The c.301_302delAG PROP1 gene mutation in Romanian patients with multiple pituitary hormone deficiency. 6
25581745 2015
25
Molecular screening of a large cohort of Moroccan patients with congenital hypopituitarism. 6
25557026 2015
26
Novel Mutations in HESX1 and PROP1 Genes in Combined Pituitary Hormone Deficiency. 6
26111865 2015
27
Recombinant human growth hormone replacement in a Japanese man with a novel PROP1 gene mutation (R112X). 6
22111336 2011
28
Mutations and pituitary morphology in a series of 82 patients with PROP1 gene defects. 6
22024773 2011
29
W194XProp1 and S156insTProp1, both of which have intact DNA-binding domain, show a different DNA-binding activity to the Prop1-binding element in human Pit-1 gene. 6
20381582 2010
30
The natural history of the R120C PROP1 mutation reveals a wide phenotypic variability in two untreated adult brothers with combined pituitary hormone deficiency. 6
17526949 2006
31
Long-term growth hormone therapy in adulthood results in significant linear growth in siblings with a PROP-1 gene mutation. 6
15472175 2004
32
PROP-1 gene mutation (R120C) causing combined pituitary hormone deficiencies with variable clinical course in eight siblings of one Jewish Moroccan family. 6
14614227 2003
33
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
34
A unique case of combined pituitary hormone deficiency caused by a PROP1 gene mutation (R120C) associated with normal height and absent puberty. 6
12153609 2002
35
Adrenocorticotropin deficiency in combined pituitary hormone deficiency patients homozygous for a novel PROP1 deletion. 6
11134108 2000
36
Combined pituitary hormone deficiency caused by a novel mutation of a highly conserved residue (F88S) in the homeodomain of PROP-1. 6
10946881 2000
37
Human Prop-1: cloning, mapping, genomic structure. Mutations in familial combined pituitary hormone deficiency. 6
9824293 1998
38
The PROP1 2-base pair deletion is a common cause of combined pituitary hormone deficiency. 6
9745452 1998
39
Compound heterozygous deletion of the PROP-1 gene in children with combined pituitary hormone deficiency. 6
9661653 1998
40
General Tom Thumb and other midgets. 6
6046325 1967
41
High prevalence of PROP1 defects in Lithuania: phenotypic findings in an ethnically homogenous cohort of patients with multiple pituitary hormone deficiency. 25
24178788 2014
42
A novel HESX1 splice mutation causes isolated GH deficiency by interfering with mRNA processing. 25
21325470 2011
43
Pituitary transcription factors in the aetiology of combined pituitary hormone deficiency. 25
21396574 2011
44
Pituitary stalk dysgenesis-induced hypopituitarism in adult patients: prevalence, evolution of hormone dysfunction and genetic analysis. 25
21304225 2011
45
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
46
A novel loss-of-function mutation in OTX2 in a patient with anophthalmia and isolated growth hormone deficiency. 25
20396904 2010
47
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
48
A large deletion of PROP1 gene in patients with combined pituitary hormone deficiency from two unrelated Chinese pedigrees. 25
20395664 2010
49
A novel dominant negative mutation of OTX2 associated with combined pituitary hormone deficiency. 25
18728160 2008
50
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
51
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
52
Hypothalamic and pituitary development: novel insights into the aetiology. 25
17785694 2007
53
MRI findings and genotype analysis in patients with childhood onset growth hormone deficiency--correlation with severity of hypopituitarism. 25
17642419 2007
54
Prediction of adult height in growth-hormone-treated children with growth hormone deficiency. 25
17179199 2007
55
HESX1 mutations are an uncommon cause of septooptic dysplasia and hypopituitarism. 25
17148560 2007
56
Combined pituitary hormone deficiency (CPHD) due to a complete PROP1 deletion. 25
16918947 2006
57
Congenital combined pituitary hormone deficiency attributable to a novel PROP1 mutation (467insT). 25
16759034 2006
58
Over- and underdosage of SOX3 is associated with infundibular hypoplasia and hypopituitarism. 25
15800844 2005
59
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
60
A novel PROP1 gene mutation (157delA) in Japanese siblings with combined anterior pituitary hormone deficiency. 25
15521968 2004
61
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
62
Ovulation induction and successful pregnancy outcome in two patients with Prop1 gene mutations. 25
15302300 2004
63
Conserved amino acid sequences confer nuclear localization upon the Prophet of Pit-1 pituitary transcription factor protein. 25
15246537 2004
64
Prolonged jaundice and hypothyroidism as the presenting symptoms in a neonate with a novel Prop1 gene mutation (Q83X). 25
15012608 2004
65
Loss-of-function mutations in the human GLI2 gene are associated with pituitary anomalies and holoprosencephaly-like features. 25
14581620 2003
66
Enhanced repression by HESX1 as a cause of hypopituitarism and septooptic dysplasia. 25
14557462 2003
67
Two new PROP1 gene mutations responsible for compound pituitary hormone deficiency. 25
12859410 2003
68
Combined pituitary hormone deficiency in Australian children: clinical and genetic correlates. 25
12780757 2003
69
Clinical characteristics and molecular analysis of PIT1, PROP1,LHX3, and HESX1 in combined pituitary hormone deficiency patients with abnormal pituitary MR imaging. 25
14646405 2003
70
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. 25
12414875 2002
71
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. 25
11095419 2000
72
Mutations in the homeobox gene HESX1/Hesx1 associated with septo-optic dysplasia in human and mouse. 25
9620767 1998
73
Pituitary dwarfism in the R271W Pit-1 gene mutation. 25
9392392 1997
74
Adult height in growth hormone (GH)-deficient children treated with biosynthetic GH. The Genentech Growth Study Group. 25
9024229 1997
75
Growth hormone therapy in children: when to stop? 25
7750910 1995
76
Consequences of growth hormone deficiency in adults and the benefits and risks of recombinant human growth hormone treatment. A review paper. 25
7721271 1995
77
Craniofacial features in patients with deficient and excessive growth hormone. 25
7852543 1994
78
PROP1-Related Combined Pituitary Hormone Deficiency 61
20301521 2000

Variations for Prop1-Related Combined Pituitary Hormone Deficiency

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

6 (showing 80, show less)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PROP1 NM_006261.4(PROP1):c.150_151del (p.Gly52fs) Deletion Pathogenic 8097 rs587776681 GRCh37: 5:177421298-177421299
GRCh38: 5:177994297-177994298
2 PROP1 NM_006261.4(PROP1):c.263T>C (p.Phe88Ser) SNV Pathogenic 8100 rs121917841 GRCh37: 5:177421186-177421186
GRCh38: 5:177994185-177994185
3 PROP1 NM_006261.4(PROP1):c.112_124del (p.Ser38fs) Deletion Pathogenic 8101 rs587776682 GRCh37: 5:177421325-177421337
GRCh38: 5:177994324-177994336
4 PROP1 NM_006261.4(PROP1):c.218G>A (p.Arg73His) SNV Pathogenic 8103 rs121917842 GRCh37: 5:177421231-177421231
GRCh38: 5:177994230-177994230
5 PROP1 NM_006261.4(PROP1):c.295C>T (p.Arg99Ter) SNV Pathogenic 8105 rs121917844 GRCh37: 5:177421154-177421154
GRCh38: 5:177994153-177994153
6 PROP1 PROP1, 1-BP DEL, CODON 50, EX2 Deletion Pathogenic 889994 GRCh37:
GRCh38:
7 PROP1 NM_006261.4(PROP1):c.301_302del Microsatellite Pathogenic 8098 rs193922688 GRCh37: 5:177421147-177421148
GRCh38: 5:177994146-177994147
8 PROP1 NM_006261.4(PROP1):c.150del (p.Arg53fs) Deletion Pathogenic 8102 rs587776683 GRCh37: 5:177421299-177421299
GRCh38: 5:177994298-177994298
9 PROP1 NM_006261.4(PROP1):c.217C>T (p.Arg73Cys) SNV Pathogenic 8104 rs121917843 GRCh37: 5:177421232-177421232
GRCh38: 5:177994231-177994231
10 PROP1 NM_006261.4(PROP1):c.358C>T (p.Arg120Cys) SNV Pathogenic/Likely pathogenic 8095 rs121917839 GRCh37: 5:177420033-177420033
GRCh38: 5:177993032-177993032
11 PROP1 NM_006261.4(PROP1):c.349T>A (p.Phe117Ile) SNV Likely pathogenic 8096 rs121917840 GRCh37: 5:177420042-177420042
GRCh38: 5:177993041-177993041
12 PROP1 NM_006261.4(PROP1):c.582G>A (p.Trp194Ter) SNV Likely pathogenic 8107 rs121917845 GRCh37: 5:177419809-177419809
GRCh38: 5:177992808-177992808
13 PROP1 NM_006261.4(PROP1):c.274C>T (p.Gln92Ter) SNV Likely pathogenic 161433 rs794726693 GRCh37: 5:177421175-177421175
GRCh38: 5:177994174-177994174
14 PROP1 NM_006261.4(PROP1):c.334C>T (p.Arg112Ter) SNV Likely pathogenic 188982 rs766673446 GRCh37: 5:177421115-177421115
GRCh38: 5:177994114-177994114
15 PROP1 NM_006261.4(PROP1):c.310del (p.Arg104fs) Deletion Likely pathogenic 189062 rs786204663 GRCh37: 5:177421139-177421139
GRCh38: 5:177994138-177994138
16 PROP1 NM_006261.4(PROP1):c.557del (p.Ala186fs) Deletion Likely pathogenic 371561 rs762529663 GRCh37: 5:177419834-177419834
GRCh38: 5:177992833-177992833
17 PROP1 NM_006261.4(PROP1):c.390_391del (p.Leu131fs) Deletion Likely pathogenic 371125 rs1057517027 GRCh37: 5:177420000-177420001
GRCh38: 5:177992999-177993000
18 PROP1 NM_006261.4(PROP1):c.110-2A>G SNV Likely pathogenic 370889 rs1057516846 GRCh37: 5:177421341-177421341
GRCh38: 5:177994340-177994340
19 PROP1 NM_006261.4(PROP1):c.197dup (p.His67fs) Duplication Likely pathogenic 371631 rs1057517424 GRCh37: 5:177421251-177421252
GRCh38: 5:177994250-177994251
20 PROP1 NM_006261.4(PROP1):c.288_289del (p.Ile96fs) Deletion Likely pathogenic 370872 rs1057516832 GRCh37: 5:177421160-177421161
GRCh38: 5:177994159-177994160
21 PROP1 NM_006261.4(PROP1):c.343-2A>T SNV Likely pathogenic 371145 rs1057517041 GRCh37: 5:177420050-177420050
GRCh38: 5:177993049-177993049
22 PROP1 NM_006261.4(PROP1):c.3G>C (p.Met1Ile) SNV Likely pathogenic 424617 rs1064797071 GRCh37: 5:177422932-177422932
GRCh38: 5:177995931-177995931
23 PROP1 NM_006261.4(PROP1):c.2T>C (p.Met1Thr) SNV Likely pathogenic 551288 rs1554182645 GRCh37: 5:177422933-177422933
GRCh38: 5:177995932-177995932
24 PROP1 NM_006261.4(PROP1):c.191dup (p.Arg65fs) Duplication Likely pathogenic 551422 rs1554182507 GRCh37: 5:177421257-177421258
GRCh38: 5:177994256-177994257
25 PROP1 NM_006261.4(PROP1):c.342+1G>A SNV Likely pathogenic 553577 rs1436089021 GRCh37: 5:177421106-177421106
GRCh38: 5:177994105-177994105
26 PROP1 NM_006261.4(PROP1):c.156dup (p.Arg53fs) Duplication Likely pathogenic 557212 rs1554182514 GRCh37: 5:177421292-177421293
GRCh38: 5:177994291-177994292
27 PROP1 NM_006261.4(PROP1):c.384_385GC[3] (p.Ser130fs) Microsatellite Likely pathogenic 557236 rs1554182405 GRCh37: 5:177420003-177420004
GRCh38: 5:177993002-177993003
28 PROP1 NM_006261.4(PROP1):c.70_71GA[4] (p.His26fs) Microsatellite Likely pathogenic 557723 rs1554182632 GRCh37: 5:177422859-177422860
GRCh38: 5:177995858-177995859
29 PROP1 NM_006261.4(PROP1):c.340C>T (p.Gln114Ter) SNV Likely pathogenic 558722 rs1554182481 GRCh37: 5:177421109-177421109
GRCh38: 5:177994108-177994108
30 PROP1 NM_006261.4(PROP1):c.109+1G>T SNV Likely pathogenic 631963 rs1214465435 GRCh37: 5:177422825-177422825
GRCh38: 5:177995824-177995824
31 PROP1 NM_006261.4(PROP1):c.611del (p.Gly204fs) Deletion Uncertain significance 557824 rs1554182368 GRCh37: 5:177419780-177419780
GRCh38: 5:177992779-177992779
32 PROP1 NM_006261.4(PROP1):c.629dup (p.Pro211fs) Duplication Uncertain significance 557462 rs761018422 GRCh37: 5:177419761-177419762
GRCh38: 5:177992760-177992761
33 PROP1 NM_006261.4(PROP1):c.37_39AAG[1] (p.Lys14del) Microsatellite Uncertain significance 555076 rs1554182637 GRCh37: 5:177422893-177422895
GRCh38: 5:177995892-177995894
34 PROP1 NM_006261.4(PROP1):c.652dup (p.Ser218fs) Duplication Uncertain significance 552012 rs1554182363 GRCh37: 5:177419738-177419739
GRCh38: 5:177992737-177992738
35 PROP1 NM_006261.4(PROP1):c.20_22dup (p.Arg7dup) Duplication Uncertain significance 552210 rs1554182643 GRCh37: 5:177422912-177422913
GRCh38: 5:177995911-177995912
36 PROP1 NM_006261.4(PROP1):c.373C>T (p.Arg125Trp) SNV Uncertain significance 552692 rs146918863 GRCh37: 5:177420018-177420018
GRCh38: 5:177993017-177993017
37 PROP1 NM_006261.4(PROP1):c.623dup (p.Cys208fs) Duplication Uncertain significance 353012 rs886060474 GRCh37: 5:177419767-177419768
GRCh38: 5:177992766-177992767
38 PROP1 NM_006261.4(PROP1):c.109+13C>T SNV Uncertain significance 353015 rs759210335 GRCh37: 5:177422813-177422813
GRCh38: 5:177995812-177995812
39 PROP1 NM_006261.4(PROP1):c.-302G>A SNV Uncertain significance 353021 rs150629697 GRCh37: 5:177423236-177423236
GRCh38: 5:177996235-177996235
40 PROP1 NM_006261.4(PROP1):c.*468C>T SNV Uncertain significance 353007 rs886060473 GRCh37: 5:177419242-177419242
GRCh38: 5:177992241-177992241
41 PROP1 NM_006261.4(PROP1):c.618G>A (p.Leu206=) SNV Uncertain significance 353013 rs765098843 GRCh37: 5:177419773-177419773
GRCh38: 5:177992772-177992772
42 PROP1 NM_006261.4(PROP1):c.*52G>A SNV Uncertain significance 353011 rs2233787 GRCh37: 5:177419658-177419658
GRCh38: 5:177992657-177992657
43 PROP1 NM_006261.4(PROP1):c.592T>C (p.Leu198=) SNV Uncertain significance 286901 rs780774091 GRCh37: 5:177419799-177419799
GRCh38: 5:177992798-177992798
44 PROP1 NM_006261.4(PROP1):c.335G>A (p.Arg112Gln) SNV Uncertain significance 353014 rs201266211 GRCh37: 5:177421114-177421114
GRCh38: 5:177994113-177994113
45 PROP1 NM_006261.4(PROP1):c.-260A>T SNV Uncertain significance 353020 rs886060476 GRCh37: 5:177423194-177423194
GRCh38: 5:177996193-177996193
46 PROP1 NM_006261.4(PROP1):c.152G>T (p.Gly51Val) SNV Uncertain significance 742937 rs2233783 GRCh37: 5:177421297-177421297
GRCh38: 5:177994296-177994296
47 PROP1 NM_006261.4(PROP1):c.110-8G>A SNV Uncertain significance 748874 rs377698903 GRCh37: 5:177421347-177421347
GRCh38: 5:177994346-177994346
48 PROP1 NM_006261.5(PROP1):c.303T>C (p.Ser101=) SNV Uncertain significance 989935 GRCh37: 5:177421146-177421146
GRCh38: 5:177994145-177994145
49 PROP1 NM_006261.5(PROP1):c.249G>A (p.Gln83=) SNV Uncertain significance 989936 GRCh37: 5:177421200-177421200
GRCh38: 5:177994199-177994199
50 PROP1 NM_006261.5(PROP1):c.131G>A (p.Arg44Lys) SNV Uncertain significance 989937 GRCh37: 5:177421318-177421318
GRCh38: 5:177994317-177994317
51 PROP1 NM_006261.5(PROP1):c.51C>G (p.Val17=) SNV Uncertain significance 989938 GRCh37: 5:177422884-177422884
GRCh38: 5:177995883-177995883
52 PROP1 NM_006261.5(PROP1):c.197C>T (p.Pro66Leu) SNV Uncertain significance 904626 GRCh37: 5:177421252-177421252
GRCh38: 5:177994251-177994251
53 PROP1 NM_006261.5(PROP1):c.156G>A (p.Gly52=) SNV Uncertain significance 904627 GRCh37: 5:177421293-177421293
GRCh38: 5:177994292-177994292
54 PROP1 NM_006261.5(PROP1):c.46C>G (p.Arg16Gly) SNV Uncertain significance 905418 GRCh37: 5:177422889-177422889
GRCh38: 5:177995888-177995888
55 PROP1 NM_006261.5(PROP1):c.-160C>T SNV Uncertain significance 905419 GRCh37: 5:177423094-177423094
GRCh38: 5:177996093-177996093
56 PROP1 NM_006261.5(PROP1):c.*434T>A SNV Uncertain significance 906954 GRCh37: 5:177419276-177419276
GRCh38: 5:177992275-177992275
57 PROP1 NM_006261.5(PROP1):c.*37C>T SNV Uncertain significance 906955 GRCh37: 5:177419673-177419673
GRCh38: 5:177992672-177992672
58 PROP1 NM_006261.4(PROP1):c.630A>C (p.Pro210=) SNV Uncertain significance 287515 rs535993919 GRCh37: 5:177419761-177419761
GRCh38: 5:177992760-177992760
59 PROP1 NM_006261.5(PROP1):c.340C>A (p.Gln114Lys) SNV Uncertain significance 907927 GRCh37: 5:177421109-177421109
GRCh38: 5:177994108-177994108
60 PROP1 NM_006261.4(PROP1):c.624C>T (p.Cys208=) SNV Uncertain significance 763081 rs761651134 GRCh37: 5:177419767-177419767
GRCh38: 5:177992766-177992766
61 PROP1 NM_006261.4(PROP1):c.296G>A (p.Arg99Gln) SNV Uncertain significance 8106 rs137853100 GRCh37: 5:177421153-177421153
GRCh38: 5:177994152-177994152
62 PROP1 NM_006261.4(PROP1):c.425C>T (p.Ala142Val) SNV Uncertain significance 196432 rs143790367 GRCh37: 5:177419966-177419966
GRCh38: 5:177992965-177992965
63 PROP1 NM_006261.4(PROP1):c.52G>A (p.Gly18Ser) SNV Uncertain significance 288237 rs775353413 GRCh37: 5:177422883-177422883
GRCh38: 5:177995882-177995882
64 PROP1 NM_006261.4(PROP1):c.96G>A (p.Pro32=) SNV Uncertain significance 193335 rs144314831 GRCh37: 5:177422839-177422839
GRCh38: 5:177995838-177995838
65 PROP1 NM_006261.4(PROP1):c.534G>A (p.Gln178=) SNV Uncertain significance 732957 rs73807328 GRCh37: 5:177419857-177419857
GRCh38: 5:177992856-177992856
66 PROP1 NM_006261.4(PROP1):c.471C>T (p.Tyr157=) SNV Uncertain significance 286283 rs145883811 GRCh37: 5:177419920-177419920
GRCh38: 5:177992919-177992919
67 PROP1 NM_006261.4(PROP1):c.234A>G (p.Pro78=) SNV Uncertain significance 764435 rs533923552 GRCh37: 5:177421215-177421215
GRCh38: 5:177994214-177994214
68 PROP1 NM_006261.4(PROP1):c.359G>A (p.Arg120His) SNV Uncertain significance 36701 rs769171020 GRCh37: 5:177420032-177420032
GRCh38: 5:177993031-177993031
69 PROP1 NM_006261.4(PROP1):c.456T>C (p.Ala152=) SNV Likely benign 196433 rs758911793 GRCh37: 5:177419935-177419935
GRCh38: 5:177992934-177992934
70 PROP1 NM_006261.4(PROP1):c.311G>A (p.Arg104Gln) SNV Likely benign 733349 rs369390421 GRCh37: 5:177421138-177421138
GRCh38: 5:177994137-177994137
71 PROP1 NM_006261.4(PROP1):c.81G>A (p.Pro27=) SNV Likely benign 734046 rs749312622 GRCh37: 5:177422854-177422854
GRCh38: 5:177995853-177995853
72 PROP1 NM_006261.4(PROP1):c.174G>A (p.Pro58=) SNV Benign 36699 rs2233784 GRCh37: 5:177421275-177421275
GRCh38: 5:177994274-177994274
73 PROP1 NM_006261.4(PROP1):c.424G>A (p.Ala142Thr) SNV Benign 196434 rs1800197 GRCh37: 5:177419967-177419967
GRCh38: 5:177992966-177992966
74 PROP1 NM_006261.4(PROP1):c.109+3G>A SNV Benign 353016 rs4072924 GRCh37: 5:177422823-177422823
GRCh38: 5:177995822-177995822
75 PROP1 NM_006261.4(PROP1):c.27T>C (p.Ala9=) SNV Benign 353017 rs1135320 GRCh37: 5:177422908-177422908
GRCh38: 5:177995907-177995907
76 PROP1 NM_006261.4(PROP1):c.152G>C (p.Gly51Ala) SNV Benign 188820 rs2233783 GRCh37: 5:177421297-177421297
GRCh38: 5:177994296-177994296
77 PROP1 NM_006261.4(PROP1):c.*354G>A SNV Benign 353009 rs4604209 GRCh37: 5:177419356-177419356
GRCh38: 5:177992355-177992355
78 PROP1 NM_006261.4(PROP1):c.-210A>C SNV Benign 353019 rs13187293 GRCh37: 5:177423144-177423144
GRCh38: 5:177996143-177996143
79 PROP1 NM_006261.4(PROP1):c.*419C>T SNV Benign 353008 rs116225539 GRCh37: 5:177419291-177419291
GRCh38: 5:177992290-177992290
80 PROP1 NM_006261.4(PROP1):c.*123T>C SNV Benign 353010 rs2233788 GRCh37: 5:177419587-177419587
GRCh38: 5:177992586-177992586

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-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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