CPHD2
MCID: PTT046
MIFTS: 63

Pituitary Hormone Deficiency, Combined, 2 (CPHD2)

Categories: Endocrine diseases, Genetic diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Pituitary Hormone Deficiency, Combined, 2

MalaCards integrated aliases for Pituitary Hormone Deficiency, Combined, 2:

Name: Pituitary Hormone Deficiency, Combined, 2 56 73 13
Panhypopituitarism 56 12 74 58 73 54 6 15 71
Pituitary Hormone Deficiency, Combined 2 29 6
Ateliotic Dwarfism with Hypogonadism 56 73
Pituitary Dwarfism Iii 56 73
Hanhart Dwarfism 56 73
Cphd2 56 73
Hormone Deficiency, Pituitary, Combined, Type 2 39
Combined Pituitary Hormone Deficiency 43
Pituitary Dwarfism Type 3 71
Simmond's Disease 12
Simmonds' Disease 12
Sheehan Syndrome 71

Characteristics:

Orphanet epidemiological data:

58
panhypopituitarism
Inheritance: Autosomal recessive,X-linked recessive;

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
pituitary hormone deficiency, combined, 2:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare infertility disorders
Rare gynaecological and obstetric diseases
Rare endocrine diseases


Summaries for Pituitary Hormone Deficiency, Combined, 2

UniProtKB/Swiss-Prot : 73 Pituitary hormone deficiency, combined, 2: Combined pituitary hormone deficiency is defined as the impaired production of growth hormone and one or more of the other five anterior pituitary hormones. CPHD2 is characterized by pleiotropic deficiencies of growth hormone, thyroid-stimulating hormone, follicle- stimulating hormone, luteinizing hormone, prolactin and adrenocorticotropic hormone.

MalaCards based summary : Pituitary Hormone Deficiency, Combined, 2, also known as panhypopituitarism, is related to combined pituitary hormone deficiencies, genetic forms and combined pituitary hormone deficiency. An important gene associated with Pituitary Hormone Deficiency, Combined, 2 is PROP1 (PROP Paired-Like Homeobox 1), and among its related pathways/superpathways are Peptide ligand-binding receptors and Regulation of lipid metabolism Insulin signaling-generic cascades. The drugs Metformin and Diazoxide have been mentioned in the context of this disorder. Affiliated tissues include pituitary, thyroid and brain, and related phenotypes are hypotension and fatigue

Wikipedia : 74 Hypopituitarism is the decreased (hypo) secretion of one or more of the eight hormones normally produced... more...

More information from OMIM: 262600 PS613038

Related Diseases for Pituitary Hormone Deficiency, Combined, 2

Diseases related to Pituitary Hormone Deficiency, Combined, 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 508)
# Related Disease Score Top Affiliating Genes
1 combined pituitary hormone deficiencies, genetic forms 34.4 PROP1 POU1F1 LHX4 HESX1
2 combined pituitary hormone deficiency 33.5 PROP1 POU1F1 LHX4 LHX3 HESX1
3 pituitary hormone deficiency, combined, 1 33.3 POU1F1 LHX4 LHX3 HESX1
4 sheehan syndrome 32.2 PRL POMC INS IGF1 AVP
5 growth hormone deficiency 31.2 SOX3 HESX1 GH1
6 lymphocytic hypophysitis 30.9 POMC GH1
7 diabetes insipidus 30.9 PRL POMC INS GH1 AVP
8 hypogonadotropism 30.8 PRL GNRH1
9 galactorrhea 30.7 PRL IGF1
10 dwarfism 30.7 GHRH GHR GH1
11 hypoadrenalism 30.6 POMC GH1
12 hypothyroidism, congenital, nongoitrous, 4 30.6 TSHB PROP1 PRL POU1F1 POMC GH1
13 adenoma 30.6 PRL POU1F1 POMC IGF1 GH1
14 slipped capital femoral epiphysis 30.5 IGFBP3 IGF1
15 central precocious puberty 30.4 IGF1 GNRH1 GH1
16 pituitary tumors 30.3 PROP1 PRL POU1F1 POMC IGF1 GH1
17 non-functioning pituitary adenoma 30.3 GHR GH1
18 graves disease 1 30.3 TRH POMC INS
19 abducens nerve disease 30.2 PRL POMC
20 hypogonadotropic hypogonadism 30.1 PROP1 PRL INS GNRH1
21 hypothalamic obesity 30.1 INS IGF1 GHRH
22 chromophobe adenoma 30.1 TRH PRL POMC GH1
23 hypogonadism 30.0 PROP1 PRL INS IGF1 GNRH1 GH1
24 secondary adrenal insufficiency 30.0 INS IGFBP3 IGF1 AVP
25 pituitary hypoplasia 29.9 SOX3 PRL POU1F1 LHX4 LHX3 HESX1
26 hypothalamic disease 29.9 TSHB TRH PRL POMC INS IGF1
27 isolated growth hormone deficiency type iii 29.8 SOX3 HESX1 GHRH GH1 ESX1
28 leptin deficiency or dysfunction 29.8 POMC INS IGF1
29 septooptic dysplasia 29.7 TRH SOX3 PROP1 PRL POU1F1 POMC
30 aromatase deficiency 29.7 INS GNRH1 GH1
31 pituitary stalk interruption syndrome 29.7 SOX3 PRL POU1F1 LHX4 HESX1 GH1
32 impotence 29.7 PRL POMC INS GNRH1
33 hypoglycemia 29.7 PRL POMC INS IGFBP3 IGF1 GHRH
34 silver-russell syndrome 29.7 IGFBP3 IGF1 GH1
35 holoprosencephaly 29.6 SOX3 PROP1 POU1F1 LHX4 LHX3 HESX1
36 thyroiditis 29.6 TSHB TRH PRL INS
37 congenital hypothyroidism 29.6 TSHB PRL POU1F1 IGFBP3 IGF1 GHR
38 hyperthyroidism 29.5 TRH PRL POMC INS IGF1 GH1
39 craniopharyngioma 29.4 TRH PROP1 PRL POU1F1 INS IGF1
40 amenorrhea 29.4 TRH PRL POMC INS IGF1 GNRH1
41 congenital hypopituitarism 29.3 SOX3 PROP1 PRL POU1F1 LHX4 LHX3
42 pituitary apoplexy 29.3 PRL POMC INS IGF1 GNRH1 GH1
43 diabetes insipidus, neurohypophyseal 29.3 TRH PRL POMC GNRH1 AVP
44 diabetes mellitus 29.3 PRL POMC INS IGFBP3 IGF1 GHR
45 hyperinsulinism 29.2 INS IGFBP3 IGF1 GNRH1 GHR GH1
46 insulin-like growth factor i 29.1 PRL INS IGFBP3 IGF1 GHRH GHR
47 hypopituitarism 29.1 TRH SOX3 PROP1 PRL POU1F1 POMC
48 acth deficiency, isolated 29.0 TSHB TRH PROP1 PRL POU1F1 POMC
49 isolated growth hormone deficiency 28.9 SOX3 PROP1 POU1F1 POMC LHX4 LHX3
50 functioning pituitary adenoma 28.9 TRH PRL POMC IGF1 GHRH GHR

Comorbidity relations with Pituitary Hormone Deficiency, Combined, 2 via Phenotypic Disease Network (PDN):


Acute Cystitis Deficiency Anemia
Diabetes Insipidus Hypothyroidism
Premature Ovarian Failure 7

Graphical network of the top 20 diseases related to Pituitary Hormone Deficiency, Combined, 2:



Diseases related to Pituitary Hormone Deficiency, Combined, 2

Symptoms & Phenotypes for Pituitary Hormone Deficiency, Combined, 2

Human phenotypes related to Pituitary Hormone Deficiency, Combined, 2:

58 31 (show all 35)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypotension 58 31 frequent (33%) Frequent (79-30%) HP:0002615
2 fatigue 58 31 frequent (33%) Frequent (79-30%) HP:0012378
3 hypoglycemia 58 31 frequent (33%) Frequent (79-30%) HP:0001943
4 hypogonadotrophic hypogonadism 58 31 frequent (33%) Frequent (79-30%) HP:0000044
5 depressed nasal ridge 58 31 frequent (33%) Frequent (79-30%) HP:0000457
6 decreased testicular size 58 31 frequent (33%) Frequent (79-30%) HP:0008734
7 infertility 58 31 frequent (33%) Frequent (79-30%) HP:0000789
8 amenorrhea 58 31 frequent (33%) Frequent (79-30%) HP:0000141
9 pituitary hypothyroidism 58 31 frequent (33%) Frequent (79-30%) HP:0008245
10 decreased circulating acth level 58 31 frequent (33%) Frequent (79-30%) HP:0002920
11 abnormality of secondary sexual hair 58 31 frequent (33%) Frequent (79-30%) HP:0009888
12 aplasia/hypoplasia of the breasts 58 31 frequent (33%) Frequent (79-30%) HP:0010311
13 anterior pituitary hypoplasia 58 31 frequent (33%) Frequent (79-30%) HP:0010627
14 abnormal prolactin level 58 31 frequent (33%) Frequent (79-30%) HP:0040086
15 constipation 58 31 occasional (7.5%) Occasional (29-5%) HP:0002019
16 osteopenia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000938
17 delayed skeletal maturation 58 31 occasional (7.5%) Occasional (29-5%) HP:0002750
18 delayed puberty 58 31 occasional (7.5%) Occasional (29-5%) HP:0000823
19 absence of secondary sex characteristics 58 31 occasional (7.5%) Occasional (29-5%) HP:0008187
20 osteoporosis of vertebrae 58 31 occasional (7.5%) Occasional (29-5%) HP:0005625
21 pituitary dwarfism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000839
22 ectopic posterior pituitary 58 31 very rare (1%) Very rare (<4-1%) HP:0011755
23 ectopic anterior pituitary gland 58 31 very rare (1%) Very rare (<4-1%) HP:0012731
24 short stature 58 31 Frequent (79-30%) HP:0004322
25 seizures 31 HP:0001250
26 hypothyroidism 31 HP:0000821
27 growth delay 58 Frequent (79-30%)
28 hypogonadism 31 HP:0000135
29 growth hormone deficiency 58 Frequent (79-30%)
30 neonatal hypoglycemia 31 HP:0001998
31 panhypopituitarism 31 HP:0000871
32 adrenal insufficiency 31 HP:0000846
33 hypoglycemic seizures 31 HP:0002173
34 hypopituitarism 58 Obligate (100%)
35 reduced circulating prolactin concentration 31 HP:0008202

Symptoms via clinical synopsis from OMIM:

56
Endocrine Features:
hypothyroidism
hypogonadism
panhypopituitarism
sequential loss of anterior pituitary tropic hormones
hypoadrenalism

Neurologic Central Nervous System:
hypoglycemic seizures

Laboratory Abnormalities:
low or absent growth hormone (gh)
low or absent follicle-stimulating hormone (fsh)
low or absent luteinizing hormone (lh)
low or absent adrenocorticotropic hormone (acth)
low or absent thyroid-stimulating hormone (tsh)
more
Metabolic Features:
neonatal hypoglycemia

Growth Height:
short stature (if untreated)

Clinical features from OMIM:

262600

MGI Mouse Phenotypes related to Pituitary Hormone Deficiency, Combined, 2:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 10.34 GHR GHRH GNRH1 HESX1 IGF1 IGFBP3
2 growth/size/body region MP:0005378 10.28 GHR GHRH GNRH1 HESX1 IGF1 IGFBP3
3 homeostasis/metabolism MP:0005376 10.27 AVP GHR GHRH GNRH1 IGF1 IGFBP3
4 nervous system MP:0003631 10.16 AVP GHR GHRH GNRH1 HESX1 IGF1
5 liver/biliary system MP:0005370 9.87 GHR GHRH GNRH1 IGFBP3 INS POMC
6 reproductive system MP:0005389 9.73 GHR GHRH GNRH1 IGF1 INS LHX3
7 renal/urinary system MP:0005367 9.7 AVP GHR GNRH1 IGF1 INS POMC
8 skeleton MP:0005390 9.36 AVP GHR GHRH GNRH1 IGF1 IGFBP3

Drugs & Therapeutics for Pituitary Hormone Deficiency, Combined, 2

Drugs for Pituitary Hormone Deficiency, Combined, 2 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 7)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Metformin Approved Phase 2 657-24-9 14219 4091
2
Diazoxide Approved Phase 2 364-98-7 3019
3 Antihypertensive Agents Phase 2
4 Vasodilator Agents Phase 2
5 Hypoglycemic Agents Phase 2
6 insulin Phase 2
7 Insulin, Globin Zinc Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Physiologic Testosterone Replacement in Women With Hypopituitarism Completed NCT00144391 Phase 4 Transdermal Testosterone gel
2 Combined Diazoxide and Metformin Therapy in Children With Hypothalamic Obesity Secondary to Craniopharyngioma: A Pilot Study Completed NCT00892073 Phase 2 Diazoxide;Metformin
3 Tumor Classification and Its Application in Surgical Treatment of Craniopharyngioma Unknown status NCT00949156
4 A Clinical and Genetic Investigation of Pituitary and HYPOTHALAMIC Tumors and Related Disorders Recruiting NCT00001595
5 Baseline Sexual Function, Cognitive Function, Body Composition and Muscle Parameters and Pharmacokinetics of Transdermal Testosterone Gel in Women With Hypopituitarism Withdrawn NCT00144404

Search NIH Clinical Center for Pituitary Hormone Deficiency, Combined, 2

Cochrane evidence based reviews: combined pituitary hormone deficiency

Genetic Tests for Pituitary Hormone Deficiency, Combined, 2

Genetic tests related to Pituitary Hormone Deficiency, Combined, 2:

# Genetic test Affiliating Genes
1 Pituitary Hormone Deficiency, Combined 2 29 PROP1

Anatomical Context for Pituitary Hormone Deficiency, Combined, 2

MalaCards organs/tissues related to Pituitary Hormone Deficiency, Combined, 2:

40
Pituitary, Thyroid, Brain, Lung, Liver, Breast, B Cells

Publications for Pituitary Hormone Deficiency, Combined, 2

Articles related to Pituitary Hormone Deficiency, Combined, 2:

(show top 50) (show all 1467)
# Title Authors PMID Year
1
Adrenocorticotropin deficiency in combined pituitary hormone deficiency patients homozygous for a novel PROP1 deletion. 54 61 56 6
11134108 2000
2
Longitudinal imaging reveals pituitary enlargement preceding hypoplasia in two brothers with combined pituitary hormone deficiency attributable to PROP1 mutation. 54 56 6
11549674 2001
3
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. 54 56 6
10634415 2000
4
Longitudinal hormonal and pituitary imaging changes in two females with combined pituitary hormone deficiency due to deletion of A301,G302 in the PROP1 gene. 54 56 6
10084575 1999
5
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). 54 56 6
9768691 1998
6
Compound heterozygous deletion of the PROP-1 gene in children with combined pituitary hormone deficiency. 54 56 6
9661653 1998
7
Mutations in PROP1 cause familial combined pituitary hormone deficiency. 54 56 6
9462743 1998
8
A familial form of congenital hypopituitarism due to a PROP1 mutation in a large kindred: phenotypic and in vitro functional studies. 56 6
15531542 2004
9
Long-term growth hormone therapy in adulthood results in significant linear growth in siblings with a PROP-1 gene mutation. 56 6
15472175 2004
10
PROP1 gene screening in patients with multiple pituitary hormone deficiency reveals two sites of hypermutability and a high incidence of corticotroph deficiency. 56 6
11549703 2001
11
The PROP1 2-base pair deletion is a common cause of combined pituitary hormone deficiency. 56 6
9745452 1998
12
General Tom Thumb and other midgets. 56 6
6046325 1967
13
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. 54 6
12519826 2003
14
Combined pituitary hormone deficiency caused by a novel mutation of a highly conserved residue (F88S) in the homeodomain of PROP-1. 54 6
10946881 2000
15
"Hot spot" in the PROP1 gene responsible for combined pituitary hormone deficiency. 54 6
10323394 1999
16
An uncommon phenotype with familial central hypogonadism caused by a novel PROP1 gene mutant truncated in the transactivation domain. 6
15941866 2005
17
PROP1 mutations cause progressive deterioration of anterior pituitary function including adrenal insufficiency: a longitudinal analysis. 56
15472232 2004
18
Pituitary magnetic resonance imaging in 15 patients with Prop1 gene mutations: pituitary enlargement may originate from the intermediate lobe. 56
15126542 2004
19
PROP1-Related Combined Pituitary Hormone Deficiency 6
20301521 2000
20
Clinical and biochemical phenotype of familial anterior hypopituitarism from mutation of the PROP1 gene. 56
9920061 1999
21
Human Prop-1: cloning, mapping, genomic structure. Mutations in familial combined pituitary hormone deficiency. 6
9824293 1998
22
Pituitary stalk interruption syndrome: a clinical-biological-genetic assessment of its pathogenesis. 56
9329385 1997
23
The natural history of familial hypopituitarism. 56
2998186 1985
24
A familial syndrome of isolated "aplasia" of the anterior pituitary. Diagnostic studies and treatment in the neonatal period. 56
12119961 1974
25
Congenital absence of hypoplasia of the endocrine glands. 56
4918329 1969
26
Idiopathic anterior hypopituitarism in one of monozygous twins. 56
6017748 1967
27
Absence of pituitary gland, hypothyroidism, hypoadrenalism and hypogonadism in a 17-year-old dwarf. 56
4284833 1965
28
STUDIES IN ISOLATES. 56
14192062 1964
29
[Clinical, hereditary and constitutional studies of primordial dwarfs]. 56
13227184 1954
30
[The role of hereditary factors in growth disorders]. 56
13076009 1953
31
The effect of body mass index on the diagnosis of GH deficiency in patients at risk due to a pituitary insult. 54 61
19773366 2010
32
Panhypopituitarism due to metastases to the hypothalamus and the pituitary resulting from primary breast cancer: a case report and review of the literature. 54 61
19933072 2009
33
Growth without growth hormone and similar dysmorphic features in three patients with sporadic combined pituitary hormone deficiencies. 54 61
19844116 2009
34
Retesting the childhood-onset GH-deficient patient. 54 61
18805914 2008
35
Panhypopituitarism: genetic versus acquired etiological factors. 54 61
17315526 2007
36
Genetic disorders involving adrenal development. 54 61
17986825 2007
37
Hormonal control of inhibin B in men. 54 61
17033259 2006
38
Mutations within the transcription factor PROP1 are rare in a cohort of patients with sporadic combined pituitary hormone deficiency (CPHD). 54 61
15963055 2005
39
Heterozygous HESX1 mutations associated with isolated congenital pituitary hypoplasia and septo-optic dysplasia. 54 61
11136712 2001
40
Growth hormone deficiency in the transition adolescent: should treatment be continued in adult life? 54 61
11964018 2001
41
Measurement of serum free IGF-I in diagnosis of growth hormone deficiency. 54 61
10863894 2000
42
DHEA-S levels in hypopituitaric patients with severe GH deficiency are strongly reduced across lifespan. Comparison with IGF-I levels before and during rhGH replacement. 54 61
10698044 2000
43
[Virus encephalitis with symptomatic Parkinson syndrome, diabetes insipidus and panhypopituitarism]. 54 61
10596369 1999
44
Serum levels of insulin-like growth factor I in 152 patients with growth hormone deficiency, aged 19-82 years, in relation to those in healthy subjects. 54 61
10372703 1999
45
The activity of GH/IGF-I axis in anorexia nervosa and in obesity: a comparison with normal subjects and patients with hypopituitarism or critical illness. 54 61
10728152 1998
46
Growth hormones and sex steroid interactions at puberty. 54 61
8879992 1996
47
Serum growth hormone-binding protein is unchanged in adult panhypopituitarism. 54 61
7962328 1994
48
Effects of repeated subcutaneous administration of recombinant human insulin-like growth factor I in adults with growth hormone deficiency. 54 61
7518727 1994
49
Long-term opiate receptor antagonism in a patient with panhypopituitarism: effects on appetite, prolactin and demand for vasopressin. 54 61
2045062 1991
50
Endoscopic endonasal transsphenoidal approach for pediatric craniopharyngiomas: A case series. 61
31812002 2020

Variations for Pituitary Hormone Deficiency, Combined, 2

ClinVar genetic disease variations for Pituitary Hormone Deficiency, Combined, 2:

6 (show all 43) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PROP1 NM_006261.4(PROP1):c.150_151del (p.Gly52fs)deletion Pathogenic 8097 rs587776681 5:177421298-177421299 5:177994297-177994298
2 PROP1 NM_006261.4(PROP1):c.297_298AG[2] (p.Leu102fs)short repeat Pathogenic 8098 rs193922688 5:177421147-177421148 5:177994146-177994147
3 PROP1 NM_006261.4(PROP1):c.263T>C (p.Phe88Ser)SNV Pathogenic 8100 rs121917841 5:177421186-177421186 5:177994185-177994185
4 PROP1 NM_006261.4(PROP1):c.112_124del (p.Ser38fs)deletion Pathogenic 8101 rs587776682 5:177421325-177421337 5:177994324-177994336
5 PROP1 NM_006261.4(PROP1):c.150del (p.Arg53fs)deletion Pathogenic 8102 rs587776683 5:177421299-177421299 5:177994298-177994298
6 PROP1 NM_006261.4(PROP1):c.218G>A (p.Arg73His)SNV Pathogenic 8103 rs121917842 5:177421231-177421231 5:177994230-177994230
7 PROP1 NM_006261.4(PROP1):c.217C>T (p.Arg73Cys)SNV Pathogenic 8104 rs121917843 5:177421232-177421232 5:177994231-177994231
8 PROP1 NM_006261.4(PROP1):c.295C>T (p.Arg99Ter)SNV Pathogenic 8105 rs121917844 5:177421154-177421154 5:177994153-177994153
9 46;X;t(X;5)(q24;q13)dnTranslocation Pathogenic 267830
10 PROP1 NM_006261.4(PROP1):c.274C>T (p.Gln92Ter)SNV Likely pathogenic 161433 rs794726693 5:177421175-177421175 5:177994174-177994174
11 PROP1 NM_006261.4(PROP1):c.334C>T (p.Arg112Ter)SNV Likely pathogenic 188982 rs766673446 5:177421115-177421115 5:177994114-177994114
12 PROP1 NM_006261.4(PROP1):c.310del (p.Arg104fs)deletion Likely pathogenic 189062 rs786204663 5:177421139-177421139 5:177994138-177994138
13 PROP1 NM_006261.4(PROP1):c.343-2A>TSNV Likely pathogenic 371145 rs1057517041 5:177420050-177420050 5:177993049-177993049
14 PROP1 NM_006261.4(PROP1):c.288_289del (p.Ile96fs)deletion Likely pathogenic 370872 rs1057516832 5:177421160-177421161 5:177994159-177994160
15 PROP1 NM_006261.4(PROP1):c.557del (p.Ala186fs)deletion Likely pathogenic 371561 rs762529663 5:177419834-177419834 5:177992833-177992833
16 PROP1 NM_006261.4(PROP1):c.390_391del (p.Leu131fs)deletion Likely pathogenic 371125 rs1057517027 5:177420000-177420001 5:177992999-177993000
17 PROP1 NM_006261.4(PROP1):c.197dup (p.His67fs)duplication Likely pathogenic 371631 rs1057517424 5:177421251-177421252 5:177994250-177994251
18 PROP1 NM_006261.4(PROP1):c.110-2A>GSNV Likely pathogenic 370889 rs1057516846 5:177421341-177421341 5:177994340-177994340
19 PROP1 NM_006261.4(PROP1):c.3G>C (p.Met1Ile)SNV Likely pathogenic 424617 rs1064797071 5:177422932-177422932 5:177995931-177995931
20 PROP1 NM_006261.4(PROP1):c.156dup (p.Arg53fs)duplication Likely pathogenic 557212 rs1554182514 5:177421292-177421293 5:177994291-177994292
21 PROP1 NM_006261.4(PROP1):c.358C>T (p.Arg120Cys)SNV Likely pathogenic 8095 rs121917839 5:177420033-177420033 5:177993032-177993032
22 PROP1 NM_006261.4(PROP1):c.349T>A (p.Phe117Ile)SNV Likely pathogenic 8096 rs121917840 5:177420042-177420042 5:177993041-177993041
23 PROP1 NM_006261.4(PROP1):c.342+1G>ASNV Likely pathogenic 553577 rs1436089021 5:177421106-177421106 5:177994105-177994105
24 PROP1 NM_006261.4(PROP1):c.191dup (p.Arg65fs)duplication Likely pathogenic 551422 rs1554182507 5:177421257-177421258 5:177994256-177994257
25 PROP1 NM_006261.4(PROP1):c.384_385GC[3] (p.Ser130fs)short repeat Likely pathogenic 557236 rs1554182405 5:177420003-177420004 5:177993002-177993003
26 PROP1 NM_006261.4(PROP1):c.70_71GA[4] (p.His26fs)short repeat Likely pathogenic 557723 rs1554182632 5:177422859-177422860 5:177995858-177995859
27 PROP1 NM_006261.4(PROP1):c.340C>T (p.Gln114Ter)SNV Likely pathogenic 558722 rs1554182481 5:177421109-177421109 5:177994108-177994108
28 PROP1 NM_006261.4(PROP1):c.2T>C (p.Met1Thr)SNV Likely pathogenic 551288 rs1554182645 5:177422933-177422933 5:177995932-177995932
29 PROP1 NM_006261.4(PROP1):c.582G>A (p.Trp194Ter)SNV Likely pathogenic 8107 rs121917845 5:177419809-177419809 5:177992808-177992808
30 PROP1 NM_006261.4(PROP1):c.109+1G>TSNV Likely pathogenic 631963 rs1214465435 5:177422825-177422825 5:177995824-177995824
31 PROP1 NM_006261.4(PROP1):c.52G>A (p.Gly18Ser)SNV Conflicting interpretations of pathogenicity 288237 rs775353413 5:177422883-177422883 5:177995882-177995882
32 PROP1 NM_006261.4(PROP1):c.296G>A (p.Arg99Gln)SNV Conflicting interpretations of pathogenicity 8106 rs137853100 5:177421153-177421153 5:177994152-177994152
33 PROP1 NM_006261.4(PROP1):c.623dup (p.Cys208fs)duplication Uncertain significance 353012 rs886060474 5:177419767-177419768 5:177992766-177992767
34 PROP1 NM_006261.4(PROP1):c.20_22dup (p.Arg7dup)duplication Uncertain significance 552210 rs1554182643 5:177422912-177422913 5:177995911-177995912
35 PROP1 NM_006261.4(PROP1):c.37_39AAG[1] (p.Lys14del)short repeat Uncertain significance 555076 rs1554182637 5:177422893-177422895 5:177995892-177995894
36 PROP1 NM_006261.4(PROP1):c.629dup (p.Pro211fs)duplication Uncertain significance 557462 rs761018422 5:177419761-177419762 5:177992760-177992761
37 PROP1 NM_006261.4(PROP1):c.611del (p.Gly204fs)deletion Uncertain significance 557824 rs1554182368 5:177419780-177419780 5:177992779-177992779
38 PROP1 NM_006261.4(PROP1):c.373C>T (p.Arg125Trp)SNV Uncertain significance 552692 rs146918863 5:177420018-177420018 5:177993017-177993017
39 PROP1 NM_006261.4(PROP1):c.652dup (p.Ser218fs)duplication Uncertain significance 552012 rs1554182363 5:177419738-177419739 5:177992737-177992738
40 SYNE2 NM_182914.2(SYNE2):c.19624G>T (p.Gly6542Trp)SNV Uncertain significance 598975 rs746433383 14:64685197-64685197 14:64218479-64218479
41 RYR1 NM_000540.2(RYR1):c.10097G>T (p.Arg3366Leu)SNV Uncertain significance 598974 rs137932199 19:39009932-39009932 19:38519292-38519292
42 PROP1 NM_006261.4(PROP1):c.152G>C (p.Gly51Ala)SNV Benign/Likely benign 188820 rs2233783 5:177421297-177421297 5:177994296-177994296
43 PROP1 NM_006261.4(PROP1):c.27T>C (p.Ala9=)SNV Benign 353017 rs1135320 5:177422908-177422908 5:177995907-177995907

UniProtKB/Swiss-Prot genetic disease variations for Pituitary Hormone Deficiency, Combined, 2:

73
# Symbol AA change Variation ID SNP ID
1 PROP1 p.Arg73Cys VAR_003768 rs121917843
2 PROP1 p.Phe117Ile VAR_003769 rs121917840
3 PROP1 p.Arg120Cys VAR_003770 rs121917839
4 PROP1 p.Arg73His VAR_012746 rs121917842
5 PROP1 p.Arg125Trp VAR_054973 rs146918863
6 PROP1 p.Phe88Ser VAR_063235 rs121917841
7 PROP1 p.Arg99Gln VAR_063236 rs137853100

Expression for Pituitary Hormone Deficiency, Combined, 2

Search GEO for disease gene expression data for Pituitary Hormone Deficiency, Combined, 2.

Pathways for Pituitary Hormone Deficiency, Combined, 2

Pathways related to Pituitary Hormone Deficiency, Combined, 2 according to GeneCards Suite gene sharing:

(show all 11)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.3 TSHB TRH PRL POMC GNRH1 GHRH
2
Show member pathways
12.65 INS IGFBP3 IGF1 GHR GH1
3 11.79 TSHB POMC GHRH AVP
4
Show member pathways
11.76 POU1F1 POMC IGFBP3 IGF1 GHRH GHR
5 11.7 INS IGFBP3 IGF1
6
Show member pathways
11.61 TSHB POMC INS IGF1 GH1
7 11.52 PRL POU1F1 POMC
8 11.39 IGF1 GHR GH1
9
Show member pathways
11.05 PRL GHR GH1
10 10.63 PRL POMC INS
11 10.57 TSHB GNRH1

GO Terms for Pituitary Hormone Deficiency, Combined, 2

Cellular components related to Pituitary Hormone Deficiency, Combined, 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nuclear chromatin GO:0000790 9.91 SOX3 PROP1 POU1F1 LHX4 LHX3 HESX1
2 extracellular region GO:0005576 9.73 TSHB TRH PRL POMC INS IGFBP3
3 secretory granule GO:0030141 9.61 TRH POMC AVP
4 insulin-like growth factor ternary complex GO:0042567 9.4 IGFBP3 IGF1
5 extracellular space GO:0005615 9.36 TSHB PRL POMC INS IGFBP3 IGF1
6 endosome lumen GO:0031904 9.33 PRL INS GH1
7 insulin-like growth factor binding protein complex GO:0016942 9.32 IGFBP3 IGF1
8 growth hormone receptor complex GO:0070195 9.26 GHR GH1

Biological processes related to Pituitary Hormone Deficiency, Combined, 2 according to GeneCards Suite gene sharing:

(show all 26)
# Name GO ID Score Top Affiliating Genes
1 signal transduction GO:0007165 10.2 TRH SMPD3 PRL POMC INS IGF1
2 regulation of transcription, DNA-templated GO:0006355 10.16 SOX3 PROP1 POU1F1 LHX4 LHX3 INS
3 G protein-coupled receptor signaling pathway GO:0007186 10.12 TSHB TRH POMC INS GNRH1 GHRH
4 negative regulation of apoptotic process GO:0043066 9.99 PROP1 LHX4 LHX3 IGF1 GNRH1 AVP
5 positive regulation of cell proliferation GO:0008284 9.97 PRL POU1F1 INS IGF1 GHRH AVP
6 cellular protein metabolic process GO:0044267 9.9 PRL INS IGFBP3 IGF1
7 positive regulation of peptidyl-tyrosine phosphorylation GO:0050731 9.79 IGF1 GHR GH1
8 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.79 INS IGF1 GH1
9 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.77 IGF1 GHR GH1
10 hormone-mediated signaling pathway GO:0009755 9.71 TSHB TRH GHR
11 positive regulation of JAK-STAT cascade GO:0046427 9.65 PRL GHR GH1
12 positive regulation of glycogen biosynthetic process GO:0045725 9.63 INS IGF1
13 positive regulation of mitotic nuclear division GO:0045840 9.63 SMPD3 INS IGF1
14 insulin-like growth factor receptor signaling pathway GO:0048009 9.62 IGF1 GHR
15 growth hormone receptor signaling pathway GO:0060396 9.61 GHR GH1
16 regulation of multicellular organism growth GO:0040014 9.61 PRL IGF1 GHR
17 regulation of insulin-like growth factor receptor signaling pathway GO:0043567 9.58 POU1F1 IGFBP3
18 negative regulation of feeding behavior GO:2000252 9.57 TRH INS
19 positive regulation of multicellular organism growth GO:0040018 9.56 POU1F1 GHRH GHR GH1
20 JAK-STAT cascade involved in growth hormone signaling pathway GO:0060397 9.54 PRL GHR GH1
21 somatotropin secreting cell differentiation GO:0060126 9.52 PROP1 POU1F1
22 adenohypophysis development GO:0021984 9.5 PROP1 POU1F1 GHRH
23 cell-cell signaling GO:0007267 9.5 TSHB TRH POMC INS GNRH1 GHRH
24 positive regulation of insulin-like growth factor receptor signaling pathway GO:0043568 9.46 IGFBP3 IGF1 GHRH GH1
25 medial motor column neuron differentiation GO:0021526 9.4 LHX4 LHX3
26 pituitary gland development GO:0021983 9.02 SOX3 PROP1 POU1F1 LHX3 HESX1

Molecular functions related to Pituitary Hormone Deficiency, Combined, 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 sequence-specific DNA binding GO:0043565 9.73 PROP1 POU1F1 LHX4 LHX3 HESX1 ESX1
2 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.7 SOX3 PROP1 POU1F1 LHX4 LHX3 HESX1
3 insulin-like growth factor receptor binding GO:0005159 9.32 INS IGF1
4 hormone activity GO:0005179 9.28 TSHB TRH PRL POMC INS IGF1
5 prolactin receptor binding GO:0005148 8.96 PRL GH1

Sources for Pituitary Hormone Deficiency, Combined, 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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