CPHD2
MCID: PTT046
MIFTS: 62

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 57 74 13
Panhypopituitarism 57 12 75 59 74 55 6 15 72
Pituitary Hormone Deficiency, Combined 2 29 6
Ateliotic Dwarfism with Hypogonadism 57 74
Pituitary Dwarfism Iii 57 74
Hanhart Dwarfism 57 74
Cphd2 57 74
Hormone Deficiency, Pituitary, Combined, Type 2 40
Combined Pituitary Hormone Deficiency 44
Pituitary Dwarfism Type 3 72
Simmond's Disease 12
Simmonds' Disease 12
Sheehan Syndrome 72

Characteristics:

Orphanet epidemiological data:

59
panhypopituitarism
Inheritance: Autosomal recessive,X-linked recessive;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
pituitary hormone deficiency, combined, 2:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:9410
ICD9CM 35 253.2
NCIt 50 C110940
SNOMED-CT 68 32390006
ICD10 33 E23.0
ICD10 via Orphanet 34 E23.0
UMLS via Orphanet 73 C0242343
Orphanet 59 ORPHA90695
MedGen 42 C0878683
UMLS 72 C0242342 C0242343 C0878683

Summaries for Pituitary Hormone Deficiency, Combined, 2

UniProtKB/Swiss-Prot : 74 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 G alpha (s) signalling events. 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 : 75 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 441)
# Related Disease Score Top Affiliating Genes
1 combined pituitary hormone deficiencies, genetic forms 34.1 PROP1 POU1F1 LHX4 HESX1
2 combined pituitary hormone deficiency 32.9 PROP1 POU1F1 LHX4 LHX3 HESX1
3 pituitary hormone deficiency, combined, 1 32.9 POU1F1 LHX4 LHX3 HESX1
4 sheehan syndrome 32.5 PRL POMC IGF1
5 septooptic dysplasia 31.9 SOX3 PROP1 POU1F1 LHX4 LHX3 HESX1
6 hypothalamic disease 31.8 PRL POMC GH1
7 diabetes insipidus 31.0 PRL POMC AVP
8 isolated growth hormone deficiency type iii 30.8 SOX3 HESX1
9 pituitary apoplexy 30.7 PRL POMC
10 lymphocytic hypophysitis 30.6 POMC GH1
11 galactorrhea 30.6 PRL IGF1
12 central precocious puberty 30.5 IGF1 GH1
13 secondary adrenal insufficiency 30.4 IGF1 AVP
14 growth hormone deficiency 30.3 SOX3 IGF1 HESX1 GH1
15 hypoadrenalism 30.3 POMC GH1
16 central nervous system germinoma 30.2 POMC AVP
17 adenoma 30.0 PRL POMC IGF1 GH1
18 amenorrhea 30.0 TRH PRL POMC
19 abducens nerve disease 29.9 PRL POMC
20 inappropriate adh syndrome 29.9 POMC AVP
21 hyperthyroidism 29.8 TRH PRL GH1
22 pituitary infarct 29.8 PRL POMC IGF1
23 kallmann syndrome 29.7 PROP1 LHX3 HESX1
24 hypopituitarism 29.6 SOX3 PROP1 PRL POU1F1 POMC LHX4
25 small cell cancer of the lung 29.6 SOX3 POMC AVP
26 diabetes insipidus, neurohypophyseal 29.6 PRL POMC AVP
27 non-functioning pituitary adenoma 29.5 GHR GH1
28 pituitary hypoplasia 29.4 SOX3 PRL POU1F1 LHX4 LHX3 HESX1
29 empty sella syndrome 29.4 TRH PRL POMC IGF1 GH1
30 turner syndrome 29.2 IGF1 GHR GH1
31 craniopharyngioma 29.1 TRH PROP1 PRL POU1F1 IGF1 GH1
32 pituitary tumors 29.1 PROP1 PRL POU1F1 POMC IGF1 GH1
33 hyperprolactinemia 29.0 TRH PRL POMC IGF1 GH1
34 insulin-like growth factor i 29.0 PRL IGF1 GHR GH1
35 pituitary stalk interruption syndrome 28.7 SOX3 PRL POU1F1 LHX4 HESX1 GH1
36 chromophobe adenoma 28.5 TRH PRL POMC GH1 AVP
37 pituitary adenoma, prolactin-secreting 28.4 TRH PRL POMC IGF1 GH1
38 isolated growth hormone deficiency 28.2 SOX3 PROP1 POU1F1 IGF1 HESX1 GHR
39 anorexia nervosa 28.0 PRL POMC IGF1 GHR GH1
40 hypothyroidism, congenital, nongoitrous, 4 27.9 TSHB TRH PROP1 PRL POU1F1 POMC
41 functioning pituitary adenoma 27.8 TRH PRL POMC GHR GH1
42 acromegaly 27.6 TRH PRL POMC IGF1 GHR GH1
43 hyperpituitarism 27.3 TRH PRL POMC IGF1 GHR GH1
44 hypothyroidism 27.1 TSHB TRH PROP1 PRL POU1F1 POMC
45 pituitary gland disease 26.8 TRH PROP1 PRL POU1F1 POMC LHX3
46 panhypopituitarism, x-linked 12.6
47 mental retardation, x-linked, with panhypopituitarism 12.6
48 prop1-related combined pituitary hormone deficiency 12.6
49 non-acquired combined pituitary hormone deficiencies without extra-pituitary malformations 12.5
50 disease associated with non-acquired combined pituitary hormone deficiency 12.5

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:

59 32 (show all 35)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypotension 59 32 frequent (33%) Frequent (79-30%) HP:0002615
2 fatigue 59 32 frequent (33%) Frequent (79-30%) HP:0012378
3 hypoglycemia 59 32 frequent (33%) Frequent (79-30%) HP:0001943
4 hypogonadotrophic hypogonadism 59 32 frequent (33%) Frequent (79-30%) HP:0000044
5 depressed nasal ridge 59 32 frequent (33%) Frequent (79-30%) HP:0000457
6 decreased testicular size 59 32 frequent (33%) Frequent (79-30%) HP:0008734
7 infertility 59 32 frequent (33%) Frequent (79-30%) HP:0000789
8 amenorrhea 59 32 frequent (33%) Frequent (79-30%) HP:0000141
9 pituitary hypothyroidism 59 32 frequent (33%) Frequent (79-30%) HP:0008245
10 decreased circulating acth level 59 32 frequent (33%) Frequent (79-30%) HP:0002920
11 abnormality of secondary sexual hair 59 32 frequent (33%) Frequent (79-30%) HP:0009888
12 aplasia/hypoplasia of the breasts 59 32 frequent (33%) Frequent (79-30%) HP:0010311
13 anterior pituitary hypoplasia 59 32 frequent (33%) Frequent (79-30%) HP:0010627
14 abnormal prolactin level 59 32 frequent (33%) Frequent (79-30%) HP:0040086
15 osteopenia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000938
16 constipation 59 32 occasional (7.5%) Occasional (29-5%) HP:0002019
17 delayed skeletal maturation 59 32 occasional (7.5%) Occasional (29-5%) HP:0002750
18 delayed puberty 59 32 occasional (7.5%) Occasional (29-5%) HP:0000823
19 absence of secondary sex characteristics 59 32 occasional (7.5%) Occasional (29-5%) HP:0008187
20 osteoporosis of vertebrae 59 32 occasional (7.5%) Occasional (29-5%) HP:0005625
21 pituitary dwarfism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000839
22 ectopic posterior pituitary 59 32 very rare (1%) Very rare (<4-1%) HP:0011755
23 ectopic anterior pituitary gland 59 32 very rare (1%) Very rare (<4-1%) HP:0012731
24 short stature 59 32 Frequent (79-30%) HP:0004322
25 hypothyroidism 32 HP:0000821
26 seizures 32 HP:0001250
27 growth delay 59 Frequent (79-30%)
28 hypogonadism 32 HP:0000135
29 neonatal hypoglycemia 32 HP:0001998
30 panhypopituitarism 32 HP:0000871
31 adrenal insufficiency 32 HP:0000846
32 hypoglycemic seizures 32 HP:0002173
33 growth hormone deficiency 59 Frequent (79-30%)
34 prolactin deficiency 32 HP:0008202
35 hypopituitarism 59 Obligate (100%)

Symptoms via clinical synopsis from OMIM:

57
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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 10.11 GHR HESX1 IGF1 LHX3 LHX4 POMC
2 growth/size/body region MP:0005378 10.02 GHR HESX1 IGF1 LHX3 POMC POU1F1
3 homeostasis/metabolism MP:0005376 10 AVP GHR IGF1 LHX3 LHX4 POMC
4 mortality/aging MP:0010768 9.85 AVP GHR HESX1 IGF1 LHX3 LHX4
5 nervous system MP:0003631 9.73 AVP GHR HESX1 IGF1 LHX3 LHX4
6 reproductive system MP:0005389 9.23 GHR IGF1 LHX3 POU1F1 PRL PROP1

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 4091 14219
2
Diazoxide Approved Phase 2 364-98-7 3019
3 insulin Phase 2
4 Insulin, Globin Zinc Phase 2
5 Antihypertensive Agents Phase 2
6 Vasodilator Agents Phase 2
7 Hypoglycemic Agents 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

Inferred drug relations via UMLS 72 / NDF-RT 51 :


L-Arginine
Tetracosactide

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:

41
Pituitary, Thyroid, Brain, Breast, Testes, Bone, Lung

Publications for Pituitary Hormone Deficiency, Combined, 2

Articles related to Pituitary Hormone Deficiency, Combined, 2:

(show top 50) (show all 1432)
# Title Authors PMID Year
1
Adrenocorticotropin deficiency in combined pituitary hormone deficiency patients homozygous for a novel PROP1 deletion. 9 38 8 71
11134108 2000
2
Longitudinal imaging reveals pituitary enlargement preceding hypoplasia in two brothers with combined pituitary hormone deficiency attributable to PROP1 mutation. 9 8 71
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. 9 8 71
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. 9 8 71
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). 9 8 71
9768691 1998
6
Compound heterozygous deletion of the PROP-1 gene in children with combined pituitary hormone deficiency. 9 8 71
9661653 1998
7
Mutations in PROP1 cause familial combined pituitary hormone deficiency. 9 8 71
9462743 1998
8
A familial form of congenital hypopituitarism due to a PROP1 mutation in a large kindred: phenotypic and in vitro functional studies. 8 71
15531542 2004
9
Long-term growth hormone therapy in adulthood results in significant linear growth in siblings with a PROP-1 gene mutation. 8 71
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. 8 71
11549703 2001
11
The PROP1 2-base pair deletion is a common cause of combined pituitary hormone deficiency. 8 71
9745452 1998
12
General Tom Thumb and other midgets. 8 71
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. 9 71
12519826 2003
14
Combined pituitary hormone deficiency caused by a novel mutation of a highly conserved residue (F88S) in the homeodomain of PROP-1. 9 71
10946881 2000
15
"Hot spot" in the PROP1 gene responsible for combined pituitary hormone deficiency. 9 71
10323394 1999
16
An uncommon phenotype with familial central hypogonadism caused by a novel PROP1 gene mutant truncated in the transactivation domain. 71
15941866 2005
17
PROP1 mutations cause progressive deterioration of anterior pituitary function including adrenal insufficiency: a longitudinal analysis. 8
15472232 2004
18
Pituitary magnetic resonance imaging in 15 patients with Prop1 gene mutations: pituitary enlargement may originate from the intermediate lobe. 8
15126542 2004
19
PROP1-Related Combined Pituitary Hormone Deficiency 71
20301521 2000
20
Clinical and biochemical phenotype of familial anterior hypopituitarism from mutation of the PROP1 gene. 8
9920061 1999
21
Human Prop-1: cloning, mapping, genomic structure. Mutations in familial combined pituitary hormone deficiency. 71
9824293 1998
22
Pituitary stalk interruption syndrome: a clinical-biological-genetic assessment of its pathogenesis. 8
9329385 1997
23
The natural history of familial hypopituitarism. 8
2998186 1985
24
A familial syndrome of isolated "aplasia" of the anterior pituitary. Diagnostic studies and treatment in the neonatal period. 8
12119961 1974
25
Congenital absence of hypoplasia of the endocrine glands. 8
4918329 1969
26
Idiopathic anterior hypopituitarism in one of monozygous twins. 8
6017748 1967
27
Absence of pituitary gland, hypothyroidism, hypoadrenalism and hypogonadism in a 17-year-old dwarf. 8
4284833 1965
28
STUDIES IN ISOLATES. 8
14192062 1964
29
[Clinical, hereditary and constitutional studies of primordial dwarfs]. 8
13227184 1954
30
[The role of hereditary factors in growth disorders]. 8
13076009 1953
31
The effect of body mass index on the diagnosis of GH deficiency in patients at risk due to a pituitary insult. 9 38
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. 9 38
19933072 2009
33
Growth without growth hormone and similar dysmorphic features in three patients with sporadic combined pituitary hormone deficiencies. 9 38
19844116 2009
34
Retesting the childhood-onset GH-deficient patient. 9 38
18805914 2008
35
Panhypopituitarism: genetic versus acquired etiological factors. 9 38
17315526 2007
36
Genetic disorders involving adrenal development. 9 38
17986825 2007
37
Hormonal control of inhibin B in men. 9 38
17033259 2006
38
Mutations within the transcription factor PROP1 are rare in a cohort of patients with sporadic combined pituitary hormone deficiency (CPHD). 9 38
15963055 2005
39
Growth hormone deficiency in the transition adolescent: should treatment be continued in adult life? 9 38
11964018 2001
40
Heterozygous HESX1 mutations associated with isolated congenital pituitary hypoplasia and septo-optic dysplasia. 9 38
11136712 2001
41
Measurement of serum free IGF-I in diagnosis of growth hormone deficiency. 9 38
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. 9 38
10698044 2000
43
[Virus encephalitis with symptomatic Parkinson syndrome, diabetes insipidus and panhypopituitarism]. 9 38
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. 9 38
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. 9 38
10728152 1998
46
Growth hormones and sex steroid interactions at puberty. 9 38
8879992 1996
47
Serum growth hormone-binding protein is unchanged in adult panhypopituitarism. 9 38
7962328 1994
48
Effects of repeated subcutaneous administration of recombinant human insulin-like growth factor I in adults with growth hormone deficiency. 9 38
7518727 1994
49
Long-term opiate receptor antagonism in a patient with panhypopituitarism: effects on appetite, prolactin and demand for vasopressin. 9 38
2045062 1991
50
Expanding phenotype with severe midline brain anomalies and missense variant supports a causal role for FOXA2 in 20p11.2 deletion syndrome. 38
31294511 2019

Variations for Pituitary Hormone Deficiency, Combined, 2

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

6 (show all 43)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 PROP1 NM_006261.4(PROP1): c.150_151del (p.Gly52fs) deletion Pathogenic rs587776681 5:177421298-177421299 5:177994297-177994298
2 PROP1 NM_006261.4(PROP1): c.297_298AG[2] (p.Leu102fs) short repeat Pathogenic rs193922688 5:177421147-177421148 5:177994146-177994147
3 PROP1 NM_006261.4(PROP1): c.263T> C (p.Phe88Ser) single nucleotide variant Pathogenic rs121917841 5:177421186-177421186 5:177994185-177994185
4 PROP1 NM_006261.4(PROP1): c.112_124del (p.Ser38fs) deletion Pathogenic rs587776682 5:177421325-177421337 5:177994324-177994336
5 PROP1 NM_006261.4(PROP1): c.150del (p.Arg53fs) deletion Pathogenic rs587776683 5:177421299-177421299 5:177994298-177994298
6 PROP1 NM_006261.4(PROP1): c.218G> A (p.Arg73His) single nucleotide variant Pathogenic rs121917842 5:177421231-177421231 5:177994230-177994230
7 PROP1 NM_006261.4(PROP1): c.217C> T (p.Arg73Cys) single nucleotide variant Pathogenic rs121917843 5:177421232-177421232 5:177994231-177994231
8 PROP1 NM_006261.4(PROP1): c.295C> T (p.Arg99Ter) single nucleotide variant Pathogenic rs121917844 5:177421154-177421154 5:177994153-177994153
9 46;X;t(X;5)(q24;q13)dn Translocation Pathogenic
10 PROP1 NM_006261.4(PROP1): c.109+1G> T single nucleotide variant Likely pathogenic 5:177422825-177422825 5:177995824-177995824
11 PROP1 NM_006261.4(PROP1): c.342+1G> A single nucleotide variant Likely pathogenic rs1436089021 5:177421106-177421106 5:177994105-177994105
12 PROP1 NM_006261.4(PROP1): c.191dup (p.Arg65fs) duplication Likely pathogenic rs1554182507 5:177421257-177421257 5:177994257-177994257
13 PROP1 NM_006261.4(PROP1): c.384_385GC[3] (p.Ser130fs) short repeat Likely pathogenic rs1554182405 5:177420003-177420003 5:177993003-177993004
14 PROP1 NM_006261.4(PROP1): c.358C> T (p.Arg120Cys) single nucleotide variant Likely pathogenic rs121917839 5:177420033-177420033 5:177993032-177993032
15 PROP1 NM_006261.4(PROP1): c.349T> A (p.Phe117Ile) single nucleotide variant Likely pathogenic rs121917840 5:177420042-177420042 5:177993041-177993041
16 PROP1 NM_006261.4(PROP1): c.582G> A (p.Trp194Ter) single nucleotide variant Likely pathogenic rs121917845 5:177419809-177419809 5:177992808-177992808
17 PROP1 NM_006261.4(PROP1): c.274C> T (p.Gln92Ter) single nucleotide variant Likely pathogenic rs794726693 5:177421175-177421175 5:177994174-177994174
18 PROP1 NM_006261.4(PROP1): c.334C> T (p.Arg112Ter) single nucleotide variant Likely pathogenic rs766673446 5:177421115-177421115 5:177994114-177994114
19 PROP1 NM_006261.4(PROP1): c.310del (p.Arg104fs) deletion Likely pathogenic rs786204663 5:177421139-177421139 5:177994138-177994138
20 PROP1 NM_006261.4(PROP1): c.390_391del (p.Leu131fs) deletion Likely pathogenic rs1057517027 5:177420000-177420001 5:177992999-177993000
21 PROP1 NM_006261.4(PROP1): c.343-2A> T single nucleotide variant Likely pathogenic rs1057517041 5:177420050-177420050 5:177993049-177993049
22 PROP1 NM_006261.4(PROP1): c.557del (p.Ala186fs) deletion Likely pathogenic rs762529663 5:177419834-177419834 5:177992833-177992833
23 PROP1 NM_006261.4(PROP1): c.288_289del (p.Ile96fs) deletion Likely pathogenic rs1057516832 5:177421160-177421161 5:177994159-177994160
24 PROP1 NM_006261.4(PROP1): c.197dup (p.His67fs) duplication Likely pathogenic rs1057517424 5:177421252-177421252 5:177994251-177994251
25 PROP1 NM_006261.4(PROP1): c.110-2A> G single nucleotide variant Likely pathogenic rs1057516846 5:177421341-177421341 5:177994340-177994340
26 PROP1 NM_006261.4(PROP1): c.3G> C (p.Met1Ile) single nucleotide variant Likely pathogenic rs1064797071 5:177422932-177422932 5:177995931-177995931
27 PROP1 NM_006261.4(PROP1): c.156dup (p.Arg53fs) duplication Likely pathogenic rs1554182514 5:177421292-177421292 5:177994292-177994292
28 PROP1 NM_006261.4(PROP1): c.340C> T (p.Gln114Ter) single nucleotide variant Likely pathogenic rs1554182481 5:177421109-177421109 5:177994108-177994108
29 PROP1 NM_006261.4(PROP1): c.2T> C (p.Met1Thr) single nucleotide variant Likely pathogenic rs1554182645 5:177422933-177422933 5:177995932-177995932
30 PROP1 NM_006261.4(PROP1): c.70_71GA[4] (p.His26fs) short repeat Likely pathogenic rs1554182632 5:177422859-177422859 5:177995859-177995860
31 PROP1 NM_006261.4(PROP1): c.296G> A (p.Arg99Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs137853100 5:177421153-177421153 5:177994152-177994152
32 PROP1 NM_006261.4(PROP1): c.20_22dup (p.Arg7dup) duplication Uncertain significance rs1554182643 5:177422912-177422912 5:177995912-177995914
33 PROP1 NM_006261.4(PROP1): c.652dup (p.Ser218fs) duplication Uncertain significance rs1554182363 5:177419738-177419738 5:177992738-177992738
34 PROP1 NM_006261.4(PROP1): c.37_39AAG[1] (p.Lys14del) short repeat Uncertain significance rs1554182637 5:177422892-177422895 5:177995892-177995894
35 PROP1 NM_006261.4(PROP1): c.629dup (p.Pro211fs) duplication Uncertain significance rs761018422 5:177419761-177419761 5:177992761-177992761
36 PROP1 NM_006261.4(PROP1): c.611del (p.Gly204fs) deletion Uncertain significance rs1554182368 5:177419779-177419780 5:177992779-177992779
37 PROP1 NM_006261.4(PROP1): c.373C> T (p.Arg125Trp) single nucleotide variant Uncertain significance rs146918863 5:177420018-177420018 5:177993017-177993017
38 SYNE2 NM_182914.2(SYNE2): c.19624G> T (p.Gly6542Trp) single nucleotide variant Uncertain significance 14:64685197-64685197 14:64218479-64218479
39 RYR1 NM_000540.2(RYR1): c.10097G> T (p.Arg3366Leu) single nucleotide variant Uncertain significance 19:39009932-39009932 19:38519292-38519292
40 PROP1 NM_006261.4(PROP1): c.52G> A (p.Gly18Ser) single nucleotide variant Uncertain significance rs775353413 5:177422883-177422883 5:177995882-177995882
41 PROP1 NM_006261.4(PROP1): c.623dup (p.Cys208fs) duplication Uncertain significance rs886060474 5:177419768-177419768 5:177992767-177992767
42 PROP1 NM_006261.4(PROP1): c.152G> C (p.Gly51Ala) single nucleotide variant Benign/Likely benign rs2233783 5:177421297-177421297 5:177994296-177994296
43 PROP1 NM_006261.4(PROP1): c.27T> C (p.Ala9=) single nucleotide variant Benign rs1135320 5:177422908-177422908 5:177995907-177995907

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

74
# 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 extracellular space GO:0005615 9.8 TSHB PRL POMC IGF1 GHR GH1
2 extracellular region GO:0005576 9.76 TSHB TRH PRL POMC IGF1 GHR
3 endosome lumen GO:0031904 9.32 PRL GH1
4 growth hormone receptor complex GO:0070195 8.96 GHR GH1
5 secretory granule GO:0030141 8.8 TRH POMC AVP

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

(show all 24)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of apoptotic process GO:0043066 9.89 PROP1 LHX4 LHX3 IGF1 AVP
2 animal organ morphogenesis GO:0009887 9.76 PROP1 LHX4 LHX3
3 cell-cell signaling GO:0007267 9.76 TSHB TRH POMC AVP
4 positive regulation of peptidyl-tyrosine phosphorylation GO:0050731 9.7 IGF1 GHR GH1
5 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.65 IGF1 GHR GH1
6 ERK1 and ERK2 cascade GO:0070371 9.62 IGF1 AVP
7 motor neuron axon guidance GO:0008045 9.61 LHX4 LHX3
8 hormone-mediated signaling pathway GO:0009755 9.61 TSHB TRH GHR
9 negative regulation of release of cytochrome c from mitochondria GO:0090201 9.6 IGF1 AVP
10 response to organic cyclic compound GO:0014070 9.59 TRH AVP
11 response to ethanol GO:0045471 9.58 TRH AVP
12 insulin-like growth factor receptor signaling pathway GO:0048009 9.57 IGF1 GHR
13 positive regulation of insulin-like growth factor receptor signaling pathway GO:0043568 9.56 IGF1 GH1
14 growth hormone receptor signaling pathway GO:0060396 9.55 GHR GH1
15 positive regulation of multicellular organism growth GO:0040018 9.54 POU1F1 GHR GH1
16 adenohypophysis development GO:0021984 9.51 PROP1 POU1F1
17 regulation of multicellular organism growth GO:0040014 9.43 PRL IGF1 GHR
18 somatotropin secreting cell differentiation GO:0060126 9.4 PROP1 POU1F1
19 positive regulation of JAK-STAT cascade GO:0046427 9.33 PRL GHR GH1
20 medial motor column neuron differentiation GO:0021526 9.32 LHX4 LHX3
21 JAK-STAT cascade involved in growth hormone signaling pathway GO:0060397 9.13 PRL GHR GH1
22 pituitary gland development GO:0021983 8.92 SOX3 POU1F1 LHX3 HESX1
23 regulation of transcription, DNA-templated GO:0006355 10.09 SOX3 PROP1 POU1F1 LHX4 LHX3 HESX1
24 positive regulation of transcription by RNA polymerase II GO:0045944 10.01 PROP1 POU1F1 POMC LHX4 LHX3 IGF1

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 transcription factor activity, RNA polymerase II-specific GO:0000981 9.73 SOX3 PROP1 POU1F1 LHX4 LHX3 HESX1
2 sequence-specific DNA binding GO:0043565 9.55 PROP1 POU1F1 LHX4 LHX3 HESX1
3 hormone activity GO:0005179 9.17 TSHB TRH PRL POMC IGF1 GH1
4 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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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