CPHD2
MCID: PTT046
MIFTS: 64

Pituitary Hormone Deficiency, Combined, 2 (CPHD2)

Categories: Endocrine diseases, Eye diseases, Genetic diseases, Neuronal diseases, Rare 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 25 73 54 6 15 71
Combined Pituitary Hormone Deficiency 12 25 36 43
Pituitary Hormone Deficiency, Combined 2 29 6
Pituitary Hormone Deficiency, Combined 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
Pituitary Dwarfism Type 3 71
Simmond's Disease 12
Simmonds' Disease 12
Sheehan Syndrome 71
Cphd 25

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive


HPO:

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


Classifications:



Summaries for Pituitary Hormone Deficiency, Combined, 2

Genetics Home Reference : 25 Combined pituitary hormone deficiency is a condition that causes a shortage (deficiency) of several hormones produced by the pituitary gland, which is located at the base of the brain. A lack of these hormones may affect the development of many parts of the body. The first signs of this condition include a failure to grow at the expected rate and short stature that usually becomes apparent in early childhood. People with combined pituitary hormone deficiency may have hypothyroidism, which is underactivity of the butterfly-shaped thyroid gland in the lower neck. Hypothyroidism can cause many symptoms, including weight gain and fatigue. Other features of combined pituitary hormone deficiency include delayed or absent puberty and lack the ability to have biological children (infertility). The condition can also be associated with a deficiency of the hormone cortisol. Cortisol deficiency can impair the body's immune system, causing individuals to be more susceptible to infection. Rarely, people with combined pituitary hormone deficiency have intellectual disability; a short, stiff neck; or underdeveloped optic nerves, which carry visual information from the eyes to the brain.

MalaCards based summary : Pituitary Hormone Deficiency, Combined, 2, also known as panhypopituitarism, is related to non-acquired panhypopituitarism and pituitary hormone deficiency, combined, 1. 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 Peptide hormone metabolism. The drugs Hormone Antagonists and Hormones have been mentioned in the context of this disorder. Affiliated tissues include pituitary, thyroid and brain, and related phenotypes are fatigue and hypoglycemia

Disease Ontology : 12 A hypopituitarism characterized by deficiency in growth hormone and at least one other pituitary hormone.

KEGG : 36 Combined pituitary hormone deficiency (CPHD) is a rare disorder that is characterized by the impaired production of growth hormone (GH) and one or more other pituitary hormones. Currently reported genes include PROP1, POU1F1, HESX1, LHX3, LHX4, and OTX2. Mutations of these transcription factor genes cause a wide range of pituitary phenotypes, from severe life-threatening CPHD to isolated GH deficiency.

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.

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 462)
# Related Disease Score Top Affiliating Genes
1 non-acquired panhypopituitarism 34.0 SOX3 PROP1
2 pituitary hormone deficiency, combined, 1 33.2 POU1F1 LHX4 LHX3 HESX1
3 combined pituitary hormone deficiencies, genetic forms 32.9 PROP1 POU1F1 OTX2 LHX4 HESX1 GLI2
4 sheehan syndrome 32.3 PROP1 PRL POMC IGF1 AVP
5 diabetes insipidus 31.1 PRL POMC GH1 AVP
6 hypothalamic disease 31.1 TSHB TRH PRL POMC GH1 AVP
7 lymphocytic hypophysitis 30.8 POMC GH1
8 secondary adrenal insufficiency 30.7 IGF1 AVP
9 central precocious puberty 30.7 IGF1 GH1
10 galactorrhea 30.6 PRL IGF1
11 hypothyroidism, congenital, nongoitrous, 4 30.5 TSHB PROP1 PRL POU1F1 POMC GH1
12 dwarfism 30.4 GHRHR GHR GH1
13 hypoglycemia 30.4 PRL POMC IGF1 GHR GH1
14 growth hormone deficiency 30.3 SOX3 HESX1 GHRHR GH1
15 pituitary tumors 30.3 PROP1 PRL POMC IGF1 GH1
16 hypogonadism 30.3 PROP1 PROKR2 PRL IGF1
17 congenital hypothyroidism 30.2 TSHB PRL POU1F1 IGF1 GH1
18 non-functioning pituitary adenoma 30.1 GHR GH1
19 insulin-like growth factor i 30.1 PRL IGF1 GHR GH1
20 fryns microphthalmia syndrome 30.1 OTX2 HESX1
21 abducens nerve disease 30.1 PRL POMC
22 hypogonadotropic hypogonadism 30.1 PROP1 PROKR2 PRL HESX1
23 craniopharyngioma 30.0 TRH PROP1 PRL POU1F1 IGF1 GH1
24 optic nerve hypoplasia, bilateral 30.0 OTX2 HESX1 ESX1
25 amenorrhea 30.0 TRH PRL POMC IGF1
26 adenoma 29.9 TRH PRL POU1F1 POMC IGF1 GH1
27 hyperprolactinemia 29.8 TRH PRL POMC IGF1 GH1
28 congenital hypopituitarism 29.8 PROP1 LHX4 HESX1 GLI2
29 empty sella syndrome 29.7 TRH PROP1 PRL POMC LHX3 IGF1
30 chromophobe adenoma 29.7 TRH PRL POMC GH1
31 thyroiditis 29.7 TSHB TRH PRL
32 turner syndrome 29.6 PRL POMC IGF1 GHR GH1
33 hyperthyroidism 29.5 TRH PRL POMC IGF1 GH1
34 anorexia nervosa 29.4 PRL POMC IGF1 GHR GH1
35 pituitary apoplexy 29.4 TRH PRL POMC IGF1 GH1 AVP
36 isolated growth hormone deficiency type iii 29.3 SOX3 HESX1 GHRHR GH1 ESX1
37 pituitary infarct 29.1 TRH PRL POMC IGF1 AVP
38 diabetes insipidus, neurohypophyseal 29.1 TRH PRL POMC IGF1 AVP
39 acth deficiency, isolated 28.9 TSHB TRH PROP1 PRL POMC LHX4
40 hyperpituitarism 28.9 TRH PRL POMC IGF1 GHR GH1
41 functioning pituitary adenoma 28.9 TRH PRL POMC IGF1 GHR GH1
42 acromegaly 28.8 TRH PRL POMC IGF1 GHRHR GHR
43 pituitary adenoma 28.7 TSHB TRH PRL POU1F1 POMC IGF1
44 pituitary hypoplasia 28.6 SOX3 PRL POU1F1 OTX2 LHX4 LHX3
45 pituitary adenoma, prolactin-secreting 28.5 TRH PRL POU1F1 POMC IGF1 GHRHR
46 hypothyroidism 28.3 TSHB TRH SOX3 PROP1 PRL POU1F1
47 pituitary stalk interruption syndrome 28.1 SOX3 PROKR2 PRL POU1F1 LHX4 HESX1
48 cryptorchidism, unilateral or bilateral 27.9 SOX3 PROP1 PROKR2 PRL POMC LHX4
49 holoprosencephaly 27.8 SOX3 PROP1 POU1F1 OTX2 LHX4 LHX3
50 kallmann syndrome 27.6 SOX3 PROP1 PROKR2 PRL POU1F1 OTX2

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:

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

Symptoms via clinical synopsis from OMIM:

56
Endocrine Features:
hypothyroidism
panhypopituitarism
hypogonadism
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

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

26 (show all 26)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-102 10 IGF1
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-104 10 IGF1 SMPD3
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-105 10 SMPD3
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-134 10 IGF1
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-137 10 POU1F1
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-139 10 OTX2
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-14 10 OTX2
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-144 10 IGF1
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-153 10 IGF1
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-191 10 POU1F1
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-194 10 OTX2
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-200 10 IGF1
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-21 10 IGF1
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-211 10 POU1F1
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-213 10 IGF1
16 Decreased shRNA abundance (Z-score < -2) GR00366-A-214 10 OTX2
17 Decreased shRNA abundance (Z-score < -2) GR00366-A-34 10 IGF1
18 Decreased shRNA abundance (Z-score < -2) GR00366-A-77 10 OTX2
19 Decreased shRNA abundance (Z-score < -2) GR00366-A-84 10 IGF1
20 Decreased shRNA abundance (Z-score < -2) GR00366-A-85 10 SMPD3
21 Decreased shRNA abundance (Z-score < -2) GR00366-A-91 10 SMPD3
22 Decreased viability GR00221-A-1 9.4 GLI2
23 Decreased viability GR00221-A-2 9.4 GLI2
24 Decreased viability GR00249-S 9.4 GH1
25 Decreased viability GR00386-A-1 9.4 AVP GLI2 HESX1 LHX3 OTX2 POMC
26 Decreased viability GR00402-S-2 9.4 AVP PROP1

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

45 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 10.36 GHR GHRHR GLI2 HESX1 IGF1 LHX3
2 growth/size/body region MP:0005378 10.31 GHR GHRHR GLI2 HESX1 IGF1 LHX3
3 homeostasis/metabolism MP:0005376 10.27 AVP GHR GHRHR GLI2 IGF1 LHX3
4 behavior/neurological MP:0005386 10.24 AVP GHR GHRHR GLI2 OTX2 POMC
5 nervous system MP:0003631 10.19 AVP GHR GHRHR GLI2 HESX1 IGF1
6 mortality/aging MP:0010768 10.17 AVP GHR GLI2 HESX1 IGF1 LHX3
7 craniofacial MP:0005382 10.02 GLI2 HESX1 LHX3 OTX2 POU1F1 SMPD3
8 reproductive system MP:0005389 9.97 GHR GHRHR GLI2 IGF1 LHX3 OTX2
9 hearing/vestibular/ear MP:0005377 9.88 GLI2 HESX1 IGF1 LHX3 OTX2 POU1F1
10 respiratory system MP:0005388 9.5 GLI2 HESX1 IGF1 LHX4 OTX2 PROP1
11 skeleton MP:0005390 9.32 AVP GHR GHRHR GLI2 IGF1 OTX2

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 10)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Hormone Antagonists Phase 4
2 Hormones Phase 4
3 Androgens Phase 4
4
Metformin Approved Phase 2 657-24-9 14219 4091
5
Diazoxide Approved Phase 2 364-98-7 3019
6 Insulin, Globin Zinc Phase 2
7 Antihypertensive Agents Phase 2
8 Hypoglycemic Agents Phase 2
9 Vasodilator Agents Phase 2
10 insulin 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
2 Pituitary Hormone Deficiency, Combined 29

Anatomical Context for Pituitary Hormone Deficiency, Combined, 2

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

40
Pituitary, Thyroid, Brain, Eye, Breast, Testes, Bone

Publications for Pituitary Hormone Deficiency, Combined, 2

Articles related to Pituitary Hormone Deficiency, Combined, 2:

(show top 50) (show all 1490)
# Title Authors PMID Year
1
Adrenocorticotropin deficiency in combined pituitary hormone deficiency patients homozygous for a novel PROP1 deletion. 54 56 6 61
11134108 2000
2
Longitudinal imaging reveals pituitary enlargement preceding hypoplasia in two brothers with combined pituitary hormone deficiency attributable to PROP1 mutation. 54 6 56
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. 6 56 54
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. 6 54 56
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). 6 56 54
9768691 1998
6
Compound heterozygous deletion of the PROP-1 gene in children with combined pituitary hormone deficiency. 54 6 56
9661653 1998
7
Mutations in PROP1 cause familial combined pituitary hormone deficiency. 54 6 56
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. 6 56
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. 6 56
11549703 2001
11
The PROP1 2-base pair deletion is a common cause of combined pituitary hormone deficiency. 6 56
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. 6 54
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. 6 54
10323394 1999
16
Longevity of the hypopituitary patients from the island Krk: a follow-up study. 56
20679996 2010
17
An uncommon phenotype with familial central hypogonadism caused by a novel PROP1 gene mutant truncated in the transactivation domain. 6
15941866 2005
18
PROP1 mutations cause progressive deterioration of anterior pituitary function including adrenal insufficiency: a longitudinal analysis. 56
15472232 2004
19
Pituitary magnetic resonance imaging in 15 patients with Prop1 gene mutations: pituitary enlargement may originate from the intermediate lobe. 56
15126542 2004
20
PROP1-Related Combined Pituitary Hormone Deficiency 6
20301521 2000
21
Clinical and biochemical phenotype of familial anterior hypopituitarism from mutation of the PROP1 gene. 56
9920061 1999
22
Human Prop-1: cloning, mapping, genomic structure. Mutations in familial combined pituitary hormone deficiency. 6
9824293 1998
23
Pituitary stalk interruption syndrome: a clinical-biological-genetic assessment of its pathogenesis. 56
9329385 1997
24
The natural history of familial hypopituitarism. 56
2998186 1985
25
A familial syndrome of isolated "aplasia" of the anterior pituitary. Diagnostic studies and treatment in the neonatal period. 56
12119961 1974
26
Congenital absence of hypoplasia of the endocrine glands. 56
4918329 1969
27
Idiopathic anterior hypopituitarism in one of monozygous twins. 56
6017748 1967
28
Absence of pituitary gland, hypothyroidism, hypoadrenalism and hypogonadism in a 17-year-old dwarf. 56
4284833 1965
29
STUDIES IN ISOLATES. 56
14192062 1964
30
[Clinical, hereditary and constitutional studies of primordial dwarfs]. 56
13227184 1954
31
[The role of hereditary factors in growth disorders]. 56
13076009 1953
32
The effect of body mass index on the diagnosis of GH deficiency in patients at risk due to a pituitary insult. 61 54
19773366 2010
33
Panhypopituitarism due to metastases to the hypothalamus and the pituitary resulting from primary breast cancer: a case report and review of the literature. 61 54
19933072 2009
34
Growth without growth hormone and similar dysmorphic features in three patients with sporadic combined pituitary hormone deficiencies. 54 61
19844116 2009
35
Retesting the childhood-onset GH-deficient patient. 54 61
18805914 2008
36
Panhypopituitarism: genetic versus acquired etiological factors. 61 54
17315526 2007
37
Genetic disorders involving adrenal development. 54 61
17986825 2007
38
Hormonal control of inhibin B in men. 61 54
17033259 2006
39
Mutations within the transcription factor PROP1 are rare in a cohort of patients with sporadic combined pituitary hormone deficiency (CPHD). 54 61
15963055 2005
40
Heterozygous HESX1 mutations associated with isolated congenital pituitary hypoplasia and septo-optic dysplasia. 54 61
11136712 2001
41
Growth hormone deficiency in the transition adolescent: should treatment be continued in adult life? 54 61
11964018 2001
42
Measurement of serum free IGF-I in diagnosis of growth hormone deficiency. 61 54
10863894 2000
43
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. 61 54
10698044 2000
44
[Virus encephalitis with symptomatic Parkinson syndrome, diabetes insipidus and panhypopituitarism]. 61 54
10596369 1999
45
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
46
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
47
Growth hormones and sex steroid interactions at puberty. 54 61
8879992 1996
48
Serum growth hormone-binding protein is unchanged in adult panhypopituitarism. 61 54
7962328 1994
49
Effects of repeated subcutaneous administration of recombinant human insulin-like growth factor I in adults with growth hormone deficiency. 61 54
7518727 1994
50
Long-term opiate receptor antagonism in a patient with panhypopituitarism: effects on appetite, prolactin and demand for vasopressin. 61 54
2045062 1991

Variations for Pituitary Hormone Deficiency, Combined, 2

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

6 (show top 50) (show all 75) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PROP1 PROP1, 1-BP DEL, CODON 50, EX2deletion Pathogenic 889994
2 PROP1 NM_006261.4(PROP1):c.150_151del (p.Gly52fs)deletion Pathogenic 8097 rs587776681 5:177421298-177421299 5:177994297-177994298
3 PROP1 NM_006261.4(PROP1):c.301_302delshort repeat Pathogenic 8098 rs193922688 5:177421147-177421148 5:177994146-177994147
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.112_124del (p.Ser38fs)deletion Pathogenic 8101 rs587776682 5:177421325-177421337 5:177994324-177994336
6 PROP1 NM_006261.4(PROP1):c.150del (p.Arg53fs)deletion Pathogenic 8102 rs587776683 5:177421299-177421299 5:177994298-177994298
7 PROP1 NM_006261.4(PROP1):c.218G>A (p.Arg73His)SNV Pathogenic 8103 rs121917842 5:177421231-177421231 5:177994230-177994230
8 PROP1 NM_006261.4(PROP1):c.217C>T (p.Arg73Cys)SNV Pathogenic 8104 rs121917843 5:177421232-177421232 5:177994231-177994231
9 PROP1 NM_006261.4(PROP1):c.295C>T (p.Arg99Ter)SNV Pathogenic 8105 rs121917844 5:177421154-177421154 5:177994153-177994153
10 46;X;t(X;5)(q24;q13)dnTranslocation Pathogenic 267830
11 PROP1 NM_006261.4(PROP1):c.349T>A (p.Phe117Ile)SNV Pathogenic/Likely pathogenic 8096 rs121917840 5:177420042-177420042 5:177993041-177993041
12 PROP1 NM_006261.4(PROP1):c.2T>C (p.Met1Thr)SNV Pathogenic/Likely pathogenic 551288 rs1554182645 5:177422933-177422933 5:177995932-177995932
13 PROP1 NM_006261.4(PROP1):c.109+1G>TSNV Likely pathogenic 631963 rs1214465435 5:177422825-177422825 5:177995824-177995824
14 PROP1 NM_006261.4(PROP1):c.384_385GC[3] (p.Ser130fs)short repeat Likely pathogenic 557236 rs1554182405 5:177420003-177420004 5:177993002-177993003
15 PROP1 NM_006261.4(PROP1):c.70_71GA[4] (p.His26fs)short repeat Likely pathogenic 557723 rs1554182632 5:177422859-177422860 5:177995858-177995859
16 PROP1 NM_006261.4(PROP1):c.3G>C (p.Met1Ile)SNV Likely pathogenic 424617 rs1064797071 5:177422932-177422932 5:177995931-177995931
17 PROP1 NM_006261.4(PROP1):c.156dup (p.Arg53fs)duplication Likely pathogenic 557212 rs1554182514 5:177421292-177421293 5:177994291-177994292
18 PROP1 NM_006261.4(PROP1):c.191dup (p.Arg65fs)duplication Likely pathogenic 551422 rs1554182507 5:177421257-177421258 5:177994256-177994257
19 PROP1 NM_006261.4(PROP1):c.342+1G>ASNV Likely pathogenic 553577 rs1436089021 5:177421106-177421106 5:177994105-177994105
20 PROP1 NM_006261.4(PROP1):c.340C>T (p.Gln114Ter)SNV Likely pathogenic 558722 rs1554182481 5:177421109-177421109 5:177994108-177994108
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.582G>A (p.Trp194Ter)SNV Likely pathogenic 8107 rs121917845 5:177419809-177419809 5:177992808-177992808
23 PROP1 NM_006261.4(PROP1):c.359G>A (p.Arg120His)SNV Likely pathogenic 36701 rs769171020 5:177420032-177420032 5:177993031-177993031
24 PROP1 NM_006261.4(PROP1):c.46C>T (p.Arg16Ter)SNV Likely pathogenic 36702 rs140016178 5:177422889-177422889 5:177995888-177995888
25 PROP1 NM_006261.4(PROP1):c.274C>T (p.Gln92Ter)SNV Likely pathogenic 161433 rs794726693 5:177421175-177421175 5:177994174-177994174
26 PROP1 NM_006261.4(PROP1):c.334C>T (p.Arg112Ter)SNV Likely pathogenic 188982 rs766673446 5:177421115-177421115 5:177994114-177994114
27 PROP1 NM_006261.4(PROP1):c.310del (p.Arg104fs)deletion Likely pathogenic 189062 rs786204663 5:177421139-177421139 5:177994138-177994138
28 PROP1 NM_006261.4(PROP1):c.343-2A>TSNV Likely pathogenic 371145 rs1057517041 5:177420050-177420050 5:177993049-177993049
29 PROP1 NM_006261.4(PROP1):c.288_289del (p.Ile96fs)deletion Likely pathogenic 370872 rs1057516832 5:177421160-177421161 5:177994159-177994160
30 PROP1 NM_006261.4(PROP1):c.197dup (p.His67fs)duplication Likely pathogenic 371631 rs1057517424 5:177421251-177421252 5:177994250-177994251
31 PROP1 NM_006261.4(PROP1):c.557del (p.Ala186fs)deletion Likely pathogenic 371561 rs762529663 5:177419834-177419834 5:177992833-177992833
32 PROP1 NM_006261.4(PROP1):c.390_391del (p.Leu131fs)deletion Likely pathogenic 371125 rs1057517027 5:177420000-177420001 5:177992999-177993000
33 PROP1 NM_006261.4(PROP1):c.110-2A>GSNV Likely pathogenic 370889 rs1057516846 5:177421341-177421341 5:177994340-177994340
34 PROP1 NM_006261.4(PROP1):c.471C>T (p.Tyr157=)SNV Conflicting interpretations of pathogenicity 286283 rs145883811 5:177419920-177419920 5:177992919-177992919
35 PROP1 NM_006261.4(PROP1):c.96G>A (p.Pro32=)SNV Conflicting interpretations of pathogenicity 193335 rs144314831 5:177422839-177422839 5:177995838-177995838
36 PROP1 NM_006261.4(PROP1):c.425C>T (p.Ala142Val)SNV Conflicting interpretations of pathogenicity 196432 rs143790367 5:177419966-177419966 5:177992965-177992965
37 PROP1 NM_006261.4(PROP1):c.630A>C (p.Pro210=)SNV Conflicting interpretations of pathogenicity 287515 rs535993919 5:177419761-177419761 5:177992760-177992760
38 PROP1 NM_006261.4(PROP1):c.52G>A (p.Gly18Ser)SNV Conflicting interpretations of pathogenicity 288237 rs775353413 5:177422883-177422883 5:177995882-177995882
39 PROP1 NM_006261.4(PROP1):c.534G>A (p.Gln178=)SNV Conflicting interpretations of pathogenicity 732957 5:177419857-177419857 5:177992856-177992856
40 PROP1 NM_006261.4(PROP1):c.234A>G (p.Pro78=)SNV Conflicting interpretations of pathogenicity 764435 5:177421215-177421215 5:177994214-177994214
41 PROP1 NM_006261.4(PROP1):c.296G>A (p.Arg99Gln)SNV Conflicting interpretations of pathogenicity 8106 rs137853100 5:177421153-177421153 5:177994152-177994152
42 PROP1 NC_000005.10:g.177992275A>TSNV Uncertain significance 906954 5:177419276-177419276 5:177992275-177992275
43 PROP1 NC_000005.10:g.177992672G>ASNV Uncertain significance 906955 5:177419673-177419673 5:177992672-177992672
44 PROP1 NC_000005.10:g.177994108G>TSNV Uncertain significance 907927 5:177421109-177421109 5:177994108-177994108
45 PROP1 NC_000005.10:g.177994251G>ASNV Uncertain significance 904626 5:177421252-177421252 5:177994251-177994251
46 PROP1 NC_000005.10:g.177994292C>TSNV Uncertain significance 904627 5:177421293-177421293 5:177994292-177994292
47 PROP1 NC_000005.10:g.177995888G>CSNV Uncertain significance 905418 5:177422889-177422889 5:177995888-177995888
48 PROP1 NC_000005.10:g.177996093G>ASNV Uncertain significance 905419 5:177423094-177423094 5:177996093-177996093
49 PROP1 NM_006261.4(PROP1):c.652dup (p.Ser218fs)duplication Uncertain significance 552012 rs1554182363 5:177419738-177419739 5:177992737-177992738
50 SYNE2 NM_182914.2(SYNE2):c.19624G>T (p.Gly6542Trp)SNV Uncertain significance 598975 rs746433383 14:64685197-64685197 14:64218479-64218479

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

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 secretory granule GO:0030141 9.46 TRH POMC GHRHR AVP
2 endosome lumen GO:0031904 9.26 PRL GH1
3 nuclear chromatin GO:0000790 9.23 SOX3 PROP1 POU1F1 OTX2 LHX4 LHX3
4 growth hormone receptor complex GO:0070195 8.96 GHR GH1

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

(show all 29)
# Name GO ID Score Top Affiliating Genes
1 signal transduction GO:0007165 10.22 TRH SMPD3 PROKR2 PRL POMC IGF1
2 regulation of transcription, DNA-templated GO:0006355 10.18 SOX3 PROP1 POU1F1 OTX2 LHX4 LHX3
3 negative regulation of transcription by RNA polymerase II GO:0000122 10.08 SOX3 PROP1 POU1F1 HESX1 GLI2 ESX1
4 positive regulation of transcription, DNA-templated GO:0045893 10.04 POU1F1 OTX2 LHX3 IGF1 GLI2
5 positive regulation of cell proliferation GO:0008284 10 PRL POU1F1 IGF1 GLI2 GHRHR AVP
6 negative regulation of apoptotic process GO:0043066 9.99 PROP1 LHX4 LHX3 IGF1 GLI2 AVP
7 cell-cell signaling GO:0007267 9.91 TSHB TRH POMC AVP
8 positive regulation of transcription by RNA polymerase II GO:0045944 9.91 SOX3 PROP1 POU1F1 POMC OTX2 LHX4
9 lung development GO:0030324 9.8 SMPD3 LHX3 GLI2
10 positive regulation of peptidyl-tyrosine phosphorylation GO:0050731 9.79 IGF1 GHR GH1
11 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.77 IGF1 GHR GH1
12 hormone-mediated signaling pathway GO:0009755 9.73 TSHB TRH GHR
13 dorsal/ventral pattern formation GO:0009953 9.72 PROP1 LHX3 GLI2
14 mammary gland development GO:0030879 9.67 PRL GLI2 GHRHR
15 positive regulation of JAK-STAT cascade GO:0046427 9.65 PRL GHR GH1
16 determination of adult lifespan GO:0008340 9.64 POU1F1 GHRHR
17 hormone metabolic process GO:0042445 9.63 GHRHR GHR
18 regulation of multicellular organism growth GO:0040014 9.63 PRL IGF1 GHR
19 insulin-like growth factor receptor signaling pathway GO:0048009 9.62 IGF1 GHR
20 growth hormone receptor signaling pathway GO:0060396 9.61 GHR GH1
21 regulation of insulin-like growth factor receptor signaling pathway GO:0043567 9.58 POU1F1 GHRHR
22 somatotropin secreting cell differentiation GO:0060126 9.54 PROP1 POU1F1
23 JAK-STAT cascade involved in growth hormone signaling pathway GO:0060397 9.54 PRL GHR GH1
24 positive regulation of insulin-like growth factor receptor signaling pathway GO:0043568 9.5 IGF1 GHRHR GH1
25 somatotropin secreting cell development GO:0060133 9.43 POU1F1 GHRHR
26 medial motor column neuron differentiation GO:0021526 9.4 LHX4 LHX3
27 adenohypophysis development GO:0021984 9.33 PROP1 POU1F1 GHRHR
28 positive regulation of multicellular organism growth GO:0040018 9.26 POU1F1 GHRHR GHR GH1
29 pituitary gland development GO:0021983 9.1 SOX3 PROP1 POU1F1 LHX3 HESX1 GLI2

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

# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 10.06 SOX3 PROP1 POU1F1 OTX2 LHX4 LHX3
2 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.85 PROP1 POU1F1 OTX2 LHX3 HESX1 GLI2
3 sequence-specific DNA binding GO:0043565 9.76 PROP1 POU1F1 OTX2 LHX4 LHX3 HESX1
4 DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001228 9.73 PROP1 POU1F1 OTX2 LHX4 LHX3 GLI2
5 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.61 SOX3 PROP1 POU1F1 OTX2 LHX4 LHX3
6 prolactin receptor binding GO:0005148 9.32 PRL GH1
7 hormone activity GO:0005179 9.17 TSHB TRH PRL POMC IGF1 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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