CPHD2
MCID: PTT046
MIFTS: 63

Pituitary Hormone Deficiency, Combined, 2 (CPHD2)

Categories: Endocrine diseases, Eye diseases, Genetic diseases, Neuronal diseases
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Aliases & Classifications for Pituitary Hormone Deficiency, Combined, 2

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

Name: Pituitary Hormone Deficiency, Combined, 2 57 73 28 12 5
Panhypopituitarism 57 11 42 75 73 53 5 14 71
Combined Pituitary Hormone Deficiency 11 42 43 75
Ateliotic Dwarfism with Hypogonadism 57 73
Pituitary Dwarfism Iii 57 73
Hanhart Dwarfism 57 73
Cphd2 57 73
Hormone Deficiency, Pituitary, Combined, Type 2 38
Pituitary Hormone Deficiency, Combined 5
Pituitary Dwarfism Type 3 71
Simmond's Disease 11
Simmonds' Disease 11
Sheehan Syndrome 71
Cphd 42

Characteristics:


Inheritance:

Autosomal recessive 57

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
age at diagnosis, 9 months to 8 years
initial presentation is growth retardation caused by either gh or tsh deficiency


Classifications:



External Ids:

Disease Ontology 11 DOID:9410
OMIM® 57 262600
OMIM Phenotypic Series 57 PS613038
ICD9CM 34 253.2
NCIt 49 C110940
SNOMED-CT 68 154700009
ICD10 31 E23.0
MedGen 40 C0878683
UMLS 71 C0242342 C0242343 C0878683

Summaries for Pituitary Hormone Deficiency, Combined, 2

MedlinePlus Genetics: 42 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 pituitary hormone deficiency, combined or isolated, 1 and panhypopituitarism, x-linked. An important gene associated with Pituitary Hormone Deficiency, Combined, 2 is PROP1 (PROP Paired-Like Homeobox 1), and among its related pathways/superpathways are Signal Transduction and Class A/1 (Rhodopsin-like receptors). The drugs Exenatide and Oxytocin have been mentioned in the context of this disorder. Affiliated tissues include pituitary, thyroid and brain, and related phenotypes are seizure and hypothyroidism

UniProtKB/Swiss-Prot: 73 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.

Disease Ontology: 11 A hypopituitarism characterized by deficiency in growth hormone and at least one other pituitary hormone.

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 544)
# Related Disease Score Top Affiliating Genes
1 pituitary hormone deficiency, combined or isolated, 1 32.7 POU1F1 HESX1
2 panhypopituitarism, x-linked 32.6 SOX3 LHX4
3 non-acquired panhypopituitarism 32.1 SOX3 PROP1
4 nelson syndrome 31.9 PRL POMC
5 diabetes insipidus 31.1 PRL POMC GH1 AVP
6 premature ovarian failure 7 31.0 POMC GH1
7 sheehan syndrome 30.7 TRH PROP1 PRL POU1F1 POMC LHX4
8 diabetes insipidus, neurohypophyseal 30.6 POMC AVP
9 hypothyroidism, congenital, nongoitrous, 4 30.5 TSHB PROP1 PRL POU1F1 POMC IGF1
10 pituitary tumors 30.5 PROP1 PRL IGF1 GH1
11 central diabetes insipidus 30.5 TRH PRL POMC IGF1 GH1 AVP
12 central precocious puberty 30.5 PROKR2 POMC IGF1
13 pituitary stalk interruption syndrome 30.4 PROKR2 LHX4 HESX1
14 growth hormone deficiency 30.3 SOX3 HESX1 GHRHR GH1
15 galactorrhea 30.3 PRL IGF1
16 hypogonadism 30.3 PROP1 PROKR2 PRL POMC IGF1 GH1
17 craniopharyngioma 30.1 TRH PROP1 PRL POU1F1 IGF1 GH1
18 lipoid congenital adrenal hyperplasia 30.1 PRL POMC IGF1
19 amenorrhea 30.0 TRH PRL POMC IGF1
20 combined pituitary hormone deficiencies, genetic forms 30.0 PROP1 POU1F1 OTX2 LHX4 HESX1
21 chiasmal syndrome 30.0 PRL POMC
22 abducens palsy 29.9 PRL POMC
23 sphenoid sinusitis 29.9 POMC AVP
24 turner syndrome 29.9 IGF1 GHR GH1
25 empty sella syndrome 29.9 TRH PROP1 PRL POU1F1 POMC LHX3
26 isolated growth hormone deficiency type iii 29.9 SOX3 HESX1 GHRHR ESX1
27 fryns microphthalmia syndrome 29.9 OTX2 HESX1
28 inappropriate adh syndrome 29.8 PRL POMC AVP
29 nutritional deficiency disease 29.8 LHX3 IGF1 GH1
30 myxedema 29.8 TSHB POMC AVP
31 intracranial hypertension 29.8 PRL POMC AVP
32 chronic fatigue syndrome 29.7 POMC IGF1 GH1
33 pituitary apoplexy 29.7 TRH PRL POMC IGF1 GH1 AVP
34 chromophobe adenoma 29.7 TRH PRL POMC GH1
35 hyperthyroidism 29.6 TRH PRL POMC IGF1 GH1
36 pituitary cancer 29.6 PRL POMC IGF1 GHRH
37 insulin-like growth factor i 29.6 PRL IGF1 GHRH GHR GH1
38 hypoglycemia 29.5 TRH PRL POMC IGF1 GHRH GHR
39 hyperprolactinemia 29.5 TRH PRL POMC IGF1 GHRH GH1
40 hypogonadotropic hypogonadism 29.4 SOX3 PROP1 PROKR2 PRL POMC LHX4
41 adenoma 29.3 TSHB TRH PRL POU1F1 POMC IGF1
42 optic nerve hypoplasia, bilateral 29.3 SOX3 POMC OTX2 HESX1 ESX1 AVP
43 hypopituitarism 29.2 TRH SOX3 PROP1 PROKR2 PRL POU1F1
44 conn's syndrome 29.2 TRH PRL POMC IGF1 GHRH GH1
45 gestational diabetes 29.2 PRL IGF1 GHR
46 holoprosencephaly 29.1 SOX3 PROP1 POU1F1 OTX2 LHX4 LHX3
47 leptin deficiency or dysfunction 29.1 TRH POMC IGF1 GHRH
48 anorexia nervosa 28.9 PRL POMC IGF1 GHRH GHR GH1
49 pituitary adenoma 28.9 TSHB TRH PRL POU1F1 POMC IGF1
50 acth deficiency, isolated 28.9 TRH PROP1 PRL POU1F1 POMC LHX4

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:

30 (show all 9)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizure 30 HP:0001250
2 hypothyroidism 30 HP:0000821
3 short stature 30 HP:0004322
4 neonatal hypoglycemia 30 HP:0001998
5 panhypopituitarism 30 HP:0000871
6 hypogonadism 30 HP:0000135
7 adrenal insufficiency 30 HP:0000846
8 reduced circulating prolactin concentration 30 HP:0008202
9 hypoglycemic seizures 30 HP:0002173

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Head And Neck Face:
frontal bossing

Skin Nails Hair Skin:
dry skin
wrinkled skin

Head And Neck Eyes:
blue sclerae

Growth Weight:
normal birth weight

Skeletal:
delayed bone age

Skeletal Limbs:
limited elbow extensibility

Endocrine Features:
hypothyroidism
delayed puberty
hypogonadotropic hypogonadism
combined pituitary hormone deficiency

Laboratory Abnormalities:
hypercholesterolemia
growth hormone (gh) deficiency
igf-1 deficiency
thyroid stimulation hormone (tsh) deficiency
prolactin hormone (prl) deficiency
more
Neurologic Central Nervous System:
enlarged pituitary gland
hypoplastic pituitary gland

Growth Height:
normal birth length
decreasing height velocity (childhood)
proportionate short stature (if untreated)
adult height 109-137 cm

Voice:
high-pitched voice

Growth Other:
severe growth retardation (childhood)

Clinical features from OMIM®:

262600 (Updated 08-Dec-2022)

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

25 (show all 26)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 10.19 AVP ESX1 GH1 GHR GHRH GHRHR
2 no effect GR00402-S-2 10.19 ESX1 GH1 GHR GHRHR HESX1 IGF1
3 Increased shRNA abundance (Z-score > 2) GR00366-A-110 10.09 SMPD3
4 Increased shRNA abundance (Z-score > 2) GR00366-A-114 10.09 IGF1
5 Increased shRNA abundance (Z-score > 2) GR00366-A-119 10.09 OTX2
6 Increased shRNA abundance (Z-score > 2) GR00366-A-122 10.09 POU1F1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-125 10.09 OTX2
8 Increased shRNA abundance (Z-score > 2) GR00366-A-135 10.09 POU1F1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-138 10.09 IGF1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-139 10.09 IGF1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-149 10.09 POU1F1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-161 10.09 IGF1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-163 10.09 IGF1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-164 10.09 IGF1
15 Increased shRNA abundance (Z-score > 2) GR00366-A-169 10.09 OTX2
16 Increased shRNA abundance (Z-score > 2) GR00366-A-176 10.09 IGF1
17 Increased shRNA abundance (Z-score > 2) GR00366-A-185 10.09 POU1F1
18 Increased shRNA abundance (Z-score > 2) GR00366-A-193 10.09 IGF1
19 Increased shRNA abundance (Z-score > 2) GR00366-A-2 10.09 OTX2
20 Increased shRNA abundance (Z-score > 2) GR00366-A-20 10.09 SMPD3
21 Increased shRNA abundance (Z-score > 2) GR00366-A-206 10.09 OTX2
22 Increased shRNA abundance (Z-score > 2) GR00366-A-208 10.09 IGF1
23 Increased shRNA abundance (Z-score > 2) GR00366-A-29 10.09 IGF1
24 Increased shRNA abundance (Z-score > 2) GR00366-A-4 10.09 POU1F1
25 Increased shRNA abundance (Z-score > 2) GR00366-A-82 10.09 POU1F1
26 Increased shRNA abundance (Z-score > 2) GR00366-A-99 10.09 IGF1 OTX2 POU1F1 SMPD3

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

45
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 10.41 AVP GH1 GHR GHRH GHRHR HESX1
2 homeostasis/metabolism MP:0005376 10.36 AVP GH1 GHR GHRH GHRHR IGF1
3 growth/size/body region MP:0005378 10.3 ESX1 GH1 GHR GHRH GHRHR HESX1
4 endocrine/exocrine gland MP:0005379 10.25 GH1 GHR GHRH GHRHR HESX1 IGF1
5 behavior/neurological MP:0005386 10.03 AVP GH1 GHR GHRH GHRHR OTX2
6 reproductive system MP:0005389 10 GH1 GHR GHRH GHRHR IGF1 LHX3
7 hearing/vestibular/ear MP:0005377 9.88 GHRHR HESX1 IGF1 LHX3 OTX2 POU1F1
8 skeleton MP:0005390 9.61 GHR GHRH GHRHR IGF1 OTX2 POU1F1
9 mortality/aging MP:0010768 9.47 AVP GH1 GHR HESX1 IGF1 LHX3

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 15)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Exenatide Approved, Investigational Phase 4 141758-74-9 45588096
2
Oxytocin Approved, Vet_approved Phase 4 50-56-6 439302 53477758
3
Hydrocortisone succinate Approved Phase 4 2203-97-6 3643
4
Hydrocortisone acetate Approved, Vet_approved Phase 4 50-03-3
5
Hydrocortisone Approved, Vet_approved Phase 4 50-23-7 3640 5754
6 Androgens Phase 4
7 Hormone Antagonists Phase 4
8 Arginine Vasopressin Phase 4
9 Hypoglycemic Agents Phase 4
10 Glucagon-Like Peptide 1 Phase 4
11 Incretins Phase 4
12 Anti-Obesity Agents Phase 4
13 Corticotropin-Releasing Hormone Phase 4
14 Hydrocortisone 17-butyrate 21-propionate Phase 4
15 Hormones

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 Growth Hormone and Endothelial Function in Children Completed NCT00373386 Phase 4 growth hormone
3 Identification and Clinical Relevance of an Oxytocin Deficient State: a Randomized, Crossover, Placebo-controlled, Proof-of-concept, Physiopathological Study (GLP1 Study) Recruiting NCT04897802 Phase 4 Experimental: GLP1-RA (exenatide) administration;Control: Placebo administration
4 Identification and Clinical Relevance of an Oxytocin Deficient State: a Randomized, Crossover, Placebo-controlled, Proof-of-concept Physiopathological Study (CRH Study) Recruiting NCT04902235 Phase 4 Experimental: CRH administration;Control: Placebo administration
5 A Clinical and Genetic Investigation of Pituitary and HYPOTHALAMIC Tumors and Related Disorders Recruiting NCT00001595
6 The Incidence of Congenital Combined Pituitary Hormone Deficiency in Denmark - a National Observational Study Active, not recruiting NCT05334563
7 Growing up With the Young Endocrine Support System (YESS!): Innovative E-technology to Improve Transition From Paediatric to Adult Care Not yet recruiting NCT04252001
8 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 28 PROP1

Anatomical Context for Pituitary Hormone Deficiency, Combined, 2

Organs/tissues related to Pituitary Hormone Deficiency, Combined, 2:

MalaCards : Pituitary, Thyroid, Brain, Bone, Skin, Endothelial, Hypothalamus
ODiseA: Pituitary

Publications for Pituitary Hormone Deficiency, Combined, 2

Articles related to Pituitary Hormone Deficiency, Combined, 2:

(show top 50) (show all 2042)
# Title Authors PMID Year
1
Longitudinal imaging reveals pituitary enlargement preceding hypoplasia in two brothers with combined pituitary hormone deficiency attributable to PROP1 mutation. 53 62 57 5
11549674 2001
2
Adrenocorticotropin deficiency in combined pituitary hormone deficiency patients homozygous for a novel PROP1 deletion. 53 62 57 5
11134108 2000
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. 53 62 57 5
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. 53 62 57 5
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). 53 62 57 5
9768691 1998
6
Compound heterozygous deletion of the PROP-1 gene in children with combined pituitary hormone deficiency. 53 62 57 5
9661653 1998
7
Mutations in PROP1 cause familial combined pituitary hormone deficiency. 53 62 57 5
9462743 1998
8
Pituitary magnetic resonance imaging in 15 patients with Prop1 gene mutations: pituitary enlargement may originate from the intermediate lobe. 62 57 5
15126542 2004
9
The PROP1 2-base pair deletion is a common cause of combined pituitary hormone deficiency. 62 57 5
9745452 1998
10
A familial form of congenital hypopituitarism due to a PROP1 mutation in a large kindred: phenotypic and in vitro functional studies. 57 5
15531542 2004
11
Long-term growth hormone therapy in adulthood results in significant linear growth in siblings with a PROP-1 gene mutation. 57 5
15472175 2004
12
PROP1 mutations cause progressive deterioration of anterior pituitary function including adrenal insufficiency: a longitudinal analysis. 57 5
15472232 2004
13
PROP1 gene screening in patients with multiple pituitary hormone deficiency reveals two sites of hypermutability and a high incidence of corticotroph deficiency. 57 5
11549703 2001
14
General Tom Thumb and other midgets. 57 5
6046325 1967
15
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. 53 62 5
20381582 2010
16
Molecular analysis of novel PROP1 mutations associated with combined pituitary hormone deficiency (CPHD). 53 62 5
19128366 2009
17
Long-term follow-up of combined pituitary hormone deficiency in two siblings with a Prophet of Pit-1 gene mutation. 53 62 5
17162714 2006
18
PROP1 gene analysis in Portuguese patients with combined pituitary hormone deficiency. 53 62 5
16984240 2006
19
Combined pituitary hormone deficiency (CPHD) due to a complete PROP1 deletion. 53 62 5
16918947 2006
20
Mutations within the transcription factor PROP1 are rare in a cohort of patients with sporadic combined pituitary hormone deficiency (CPHD). 53 62 5
15963055 2005
21
Genetic defects in GH synthesis and secretion. 53 62 5
15339237 2004
22
PROP-1 gene mutation (R120C) causing combined pituitary hormone deficiencies with variable clinical course in eight siblings of one Jewish Moroccan family. 53 62 5
14614227 2003
23
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. 53 62 5
12519826 2003
24
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. 53 62 5
12414875 2002
25
A unique case of combined pituitary hormone deficiency caused by a PROP1 gene mutation (R120C) associated with normal height and absent puberty. 53 62 5
12153609 2002
26
Combined pituitary hormone deficiency caused by a novel mutation of a highly conserved residue (F88S) in the homeodomain of PROP-1. 53 62 5
10946881 2000
27
Combined pituitary hormone deficiency: role of Pit-1 and Prop-1. 53 62 5
10626543 1999
28
"Hot spot" in the PROP1 gene responsible for combined pituitary hormone deficiency. 53 62 5
10323394 1999
29
A mutational hot spot in the Prop-1 gene in Russian children with combined pituitary hormone deficiency. 53 62 5
11081182 1998
30
Molecular analysis of brazilian patients with combined pituitary hormone deficiency and orthotopic posterior pituitary lobe reveals eight different PROP1 alterations with three novel mutations. 62 5
28734020 2017
31
Identification of Novel PROP1 and POU1F1 Mutations in Patients with Combined Pituitary Hormone Deficiency. 62 5
27756091 2016
32
Two coexisting heterozygous frameshift mutations in PROP1 are responsible for a different phenotype of combined pituitary hormone deficiency. 62 5
26608600 2016
33
Genesis of two most prevalent PROP1 gene variants causing combined pituitary hormone deficiency in 21 populations. 62 5
26059845 2016
34
Molecular screening of a large cohort of Moroccan patients with congenital hypopituitarism. 62 5
25557026 2015
35
Novel Mutations in HESX1 and PROP1 Genes in Combined Pituitary Hormone Deficiency. 62 5
26111865 2015
36
Recombinant human growth hormone replacement in a Japanese man with a novel PROP1 gene mutation (R112X). 62 5
22111336 2011
37
Mutations and pituitary morphology in a series of 82 patients with PROP1 gene defects. 62 5
22024773 2011
38
High prevalence of PROP1 gene mutations in Hungarian patients with childhood-onset combined anterior pituitary hormone deficiency. 62 5
17526936 2006
39
The natural history of the R120C PROP1 mutation reveals a wide phenotypic variability in two untreated adult brothers with combined pituitary hormone deficiency. 62 5
17526949 2006
40
Genetic screening of combined pituitary hormone deficiency: experience in 195 patients. 62 5
16735499 2006
41
Human Prop-1: cloning, mapping, genomic structure. Mutations in familial combined pituitary hormone deficiency. 62 5
9824293 1998
42
Cancerous leptomeningitis and familial congenital hypopituitarism. 5
26886902 2016
43
The c.301_302delAG PROP1 gene mutation in Romanian patients with multiple pituitary hormone deficiency. 5
25581745 2015
44
Detection of genetic hypopituitarism in an adult population of idiopathic pituitary insufficiency patients with growth hormone deficiency. 5
21132537 2011
45
Longevity of the hypopituitary patients from the island Krk: a follow-up study. 57
20679996 2010
46
Auxological and endocrine phenotype in a population-based cohort of patients with PROP1 gene defects. 5
16131601 2005
47
An uncommon phenotype with familial central hypogonadism caused by a novel PROP1 gene mutant truncated in the transactivation domain. 5
15941866 2005
48
Pituitary hormone deficiencies due to transcription factor gene alterations. 5
15519252 2004
49
Genetic defects of the growth hormone-insulin-like growth factor axis. 5
10675889 2000
50
Heritable disorders of pituitary development. 5
10599689 1999

Variations for Pituitary Hormone Deficiency, Combined, 2

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

5 (show top 50) (show all 109)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PROP1 NM_006261.5(PROP1):c.150_151del (p.Gly52fs) DEL Pathogenic
8097 rs587776681 GRCh37: 5:177421298-177421299
GRCh38: 5:177994297-177994298
2 PROP1 NM_006261.5(PROP1):c.295C>T (p.Arg99Ter) SNV Pathogenic
8105 rs121917844 GRCh37: 5:177421154-177421154
GRCh38: 5:177994153-177994153
3 PROP1 NM_006261.5(PROP1):c.218G>A (p.Arg73His) SNV Pathogenic
8103 rs121917842 GRCh37: 5:177421231-177421231
GRCh38: 5:177994230-177994230
4 PROP1 NM_006261.5(PROP1):c.217C>T (p.Arg73Cys) SNV Pathogenic
8104 rs121917843 GRCh37: 5:177421232-177421232
GRCh38: 5:177994231-177994231
5 PROP1 NM_006261.5(PROP1):c.471C>G (p.Tyr157Ter) SNV Pathogenic
1323498 GRCh37: 5:177419920-177419920
GRCh38: 5:177992919-177992919
6 PROP1 NM_006261.5(PROP1):c.263T>C (p.Phe88Ser) SNV Pathogenic
8100 rs121917841 GRCh37: 5:177421186-177421186
GRCh38: 5:177994185-177994185
7 PROP1 NM_006261.5(PROP1):c.112_124del (p.Ser38fs) DEL Pathogenic
8101 rs587776682 GRCh37: 5:177421325-177421337
GRCh38: 5:177994324-177994336
8 PROP1 NM_006261.5(PROP1):c.46C>T (p.Arg16Ter) SNV Pathogenic
Likely Pathogenic
36702 rs140016178 GRCh37: 5:177422889-177422889
GRCh38: 5:177995888-177995888
9 PROP1 NM_006261.5(PROP1):c.301_302del (p.Leu102fs) MICROSAT Pathogenic
Pathogenic/Likely Pathogenic
8098 rs193922688 GRCh37: 5:177421147-177421148
GRCh38: 5:177994146-177994147
10 PROP1 NM_006261.5(PROP1):c.150del (p.Arg53fs) DEL Pathogenic
Conflicting Interpretations Of Pathogenicity
8102 rs587776683 GRCh37: 5:177421299-177421299
GRCh38: 5:177994298-177994298
11 PROP1 NM_006261.5(PROP1):c.343-1G>A SNV Likely Pathogenic
1705572 GRCh37: 5:177420049-177420049
GRCh38: 5:177993048-177993048
12 PROP1 NM_006261.5(PROP1):c.358C>T (p.Arg120Cys) SNV Likely Pathogenic
8095 rs121917839 GRCh37: 5:177420033-177420033
GRCh38: 5:177993032-177993032
13 PROP1 NM_006261.5(PROP1):c.349T>A (p.Phe117Ile) SNV Likely Pathogenic
8096 rs121917840 GRCh37: 5:177420042-177420042
GRCh38: 5:177993041-177993041
14 PROP1 NM_006261.5(PROP1):c.334C>T (p.Arg112Ter) SNV Likely Pathogenic
188982 rs766673446 GRCh37: 5:177421115-177421115
GRCh38: 5:177994114-177994114
15 PROP1 NM_006261.5(PROP1):c.310del (p.Arg104fs) DEL Likely Pathogenic
189062 rs786204663 GRCh37: 5:177421139-177421139
GRCh38: 5:177994138-177994138
16 PROP1 NM_006261.5(PROP1):c.2T>C (p.Met1Thr) SNV Likely Pathogenic
551288 rs1554182645 GRCh37: 5:177422933-177422933
GRCh38: 5:177995932-177995932
17 PROP1 NM_006261.5(PROP1):c.156dup (p.Arg53fs) DUP Likely Pathogenic
557212 rs1554182514 GRCh37: 5:177421292-177421293
GRCh38: 5:177994291-177994292
18 PROP1 NM_006261.5(PROP1):c.386_387dup (p.Ser130fs) MICROSAT Likely Pathogenic
557236 rs1554182405 GRCh37: 5:177420003-177420004
GRCh38: 5:177993002-177993003
19 PROP1 NM_006261.5(PROP1):c.74_75dup (p.His26fs) MICROSAT Likely Pathogenic
557723 rs1554182632 GRCh37: 5:177422859-177422860
GRCh38: 5:177995858-177995859
20 PROP1 NM_006261.5(PROP1):c.582G>A (p.Trp194Ter) SNV Likely Pathogenic
8107 rs121917845 GRCh37: 5:177419809-177419809
GRCh38: 5:177992808-177992808
21 PROP1 NM_006261.5(PROP1):c.359G>A (p.Arg120His) SNV Likely Pathogenic
Uncertain Significance
36701 rs769171020 GRCh37: 5:177420032-177420032
GRCh38: 5:177993031-177993031
22 PROP1 NM_006261.5(PROP1):c.274C>T (p.Gln92Ter) SNV Likely Pathogenic
161433 rs794726693 GRCh37: 5:177421175-177421175
GRCh38: 5:177994174-177994174
23 PROP1 NM_006261.5(PROP1):c.557del (p.Ala186fs) DEL Likely Pathogenic
371561 rs762529663 GRCh37: 5:177419834-177419834
GRCh38: 5:177992833-177992833
24 PROP1 NM_006261.5(PROP1):c.390_391del (p.Leu131fs) DEL Likely Pathogenic
371125 rs1057517027 GRCh37: 5:177420000-177420001
GRCh38: 5:177992999-177993000
25 PROP1 NM_006261.5(PROP1):c.110-2A>G SNV Likely Pathogenic
370889 rs1057516846 GRCh37: 5:177421341-177421341
GRCh38: 5:177994340-177994340
26 PROP1 NM_006261.5(PROP1):c.197dup (p.His67fs) DUP Likely Pathogenic
371631 rs1057517424 GRCh37: 5:177421251-177421252
GRCh38: 5:177994250-177994251
27 PROP1 NM_006261.5(PROP1):c.288_289del (p.Ile96fs) DEL Likely Pathogenic
370872 rs1057516832 GRCh37: 5:177421160-177421161
GRCh38: 5:177994159-177994160
28 PROP1 NM_006261.5(PROP1):c.343-2A>T SNV Likely Pathogenic
371145 rs1057517041 GRCh37: 5:177420050-177420050
GRCh38: 5:177993049-177993049
29 PROP1 NM_006261.5(PROP1):c.3G>C (p.Met1Ile) SNV Likely Pathogenic
424617 rs1064797071 GRCh37: 5:177422932-177422932
GRCh38: 5:177995931-177995931
30 PROP1 NM_006261.5(PROP1):c.191dup (p.Arg65fs) DUP Likely Pathogenic
551422 rs1554182507 GRCh37: 5:177421257-177421258
GRCh38: 5:177994256-177994257
31 PROP1 NM_006261.5(PROP1):c.342+1G>A SNV Likely Pathogenic
553577 rs1436089021 GRCh37: 5:177421106-177421106
GRCh38: 5:177994105-177994105
32 PROP1 NM_006261.5(PROP1):c.340C>T (p.Gln114Ter) SNV Likely Pathogenic
558722 rs1554182481 GRCh37: 5:177421109-177421109
GRCh38: 5:177994108-177994108
33 PROP1 NM_006261.5(PROP1):c.109+1G>T SNV Likely Pathogenic
631963 rs1214465435 GRCh37: 5:177422825-177422825
GRCh38: 5:177995824-177995824
34 LHX3 NM_178138.6(LHX3):c.79+1902C>T SNV Uncertain Significance
279836 rs375579333 GRCh37: 9:139094878-139094878
GRCh38: 9:136203032-136203032
35 PROP1 NM_006261.5(PROP1):c.303T>C (p.Ser101=) SNV Uncertain Significance
989935 rs114584451 GRCh37: 5:177421146-177421146
GRCh38: 5:177994145-177994145
36 PROP1 NM_006261.5(PROP1):c.249G>A (p.Gln83=) SNV Uncertain Significance
989936 rs373160119 GRCh37: 5:177421200-177421200
GRCh38: 5:177994199-177994199
37 SYNE2 NM_182914.3(SYNE2):c.19624G>T (p.Gly6542Trp) SNV Uncertain Significance
598975 rs746433383 GRCh37: 14:64685197-64685197
GRCh38: 14:64218479-64218479
38 RYR1 NM_000540.3(RYR1):c.10097G>T (p.Arg3366Leu) SNV Uncertain Significance
598974 rs137932199 GRCh37: 19:39009932-39009932
GRCh38: 19:38519292-38519292
39 PROP1 NM_006261.5(PROP1):c.152G>T (p.Gly51Val) SNV Uncertain Significance
742937 rs2233783 GRCh37: 5:177421297-177421297
GRCh38: 5:177994296-177994296
40 PROP1 NM_006261.5(PROP1):c.110-8G>A SNV Uncertain Significance
748874 rs377698903 GRCh37: 5:177421347-177421347
GRCh38: 5:177994346-177994346
41 LHX3 NM_178138.6(LHX3):c.251+9C>T SNV Uncertain Significance
753609 rs569254423 GRCh37: 9:139092419-139092419
GRCh38: 9:136200573-136200573
42 PROP1 NM_006261.5(PROP1):c.197C>T (p.Pro66Leu) SNV Uncertain Significance
904626 rs764154376 GRCh37: 5:177421252-177421252
GRCh38: 5:177994251-177994251
43 PROP1 NM_006261.5(PROP1):c.156G>A (p.Gly52=) SNV Uncertain Significance
904627 rs781247441 GRCh37: 5:177421293-177421293
GRCh38: 5:177994292-177994292
44 PROP1 NM_006261.5(PROP1):c.46C>G (p.Arg16Gly) SNV Uncertain Significance
905418 rs140016178 GRCh37: 5:177422889-177422889
GRCh38: 5:177995888-177995888
45 PROP1 NM_006261.5(PROP1):c.-160C>T SNV Uncertain Significance
905419 rs1025842722 GRCh37: 5:177423094-177423094
GRCh38: 5:177996093-177996093
46 PROP1 NM_006261.5(PROP1):c.*434T>A SNV Uncertain Significance
906954 rs1772656639 GRCh37: 5:177419276-177419276
GRCh38: 5:177992275-177992275
47 PROP1 NM_006261.5(PROP1):c.*37C>T SNV Uncertain Significance
906955 rs749918250 GRCh37: 5:177419673-177419673
GRCh38: 5:177992672-177992672
48 PROP1 NM_006261.5(PROP1):c.630A>C (p.Pro210=) SNV Uncertain Significance
287515 rs535993919 GRCh37: 5:177419761-177419761
GRCh38: 5:177992760-177992760
49 PROP1 NM_006261.5(PROP1):c.340C>A (p.Gln114Lys) SNV Uncertain Significance
907927 rs1554182481 GRCh37: 5:177421109-177421109
GRCh38: 5:177994108-177994108
50 LHX3 NM_178138.6(LHX3):c.920G>C (p.Arg307Pro) SNV Uncertain Significance
279837 rs182345541 GRCh37: 9:139089445-139089445
GRCh38: 9:136197599-136197599

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 chromatin GO:0000785 10.06 SOX3 PROP1 POU1F1 OTX2 LHX4 LHX3
2 secretory granule GO:0030141 9.56 TRH POMC GHRHR AVP
3 growth hormone receptor complex GO:0070195 8.92 GHR GH1

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

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 10.46 SOX3 PROP1 POU1F1 POMC OTX2 LHX4
2 regulation of DNA-templated transcription GO:0006355 10.19 SOX3 PROP1 POU1F1 OTX2 LHX4 LHX3
3 cell-cell signaling GO:0007267 10.1 TSHB TRH POMC GHRH AVP
4 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 10.04 IGF1 GHR GH1
5 ERK1 and ERK2 cascade GO:0070371 10 IGF1 HESX1 AVP
6 positive regulation of receptor signaling pathway via JAK-STAT GO:0046427 9.93 GH1 GHR PRL
7 positive regulation of multicellular organism growth GO:0040018 9.86 GH1 GHR GHRH GHRHR
8 positive regulation of growth hormone secretion GO:0060124 9.85 GHRHR GHRH
9 regulation of multicellular organism growth GO:0040014 9.85 PRL IGF1 GHR
10 growth hormone secretion GO:0030252 9.78 GHRHR GHRH
11 somatotropin secreting cell differentiation GO:0060126 9.73 PROP1 LHX3
12 pituitary gland development GO:0021983 9.63 SOX3 PROP1 LHX3 HESX1
13 medial motor column neuron differentiation GO:0021526 9.62 LHX4 LHX3
14 positive regulation of insulin-like growth factor receptor signaling pathway GO:0043568 9.56 IGF1 GHRHR GHRH GH1
15 positive regulation of hormone secretion GO:0046887 9.54 GHRH GHRHR
16 hormone secretion GO:0046879 9.51 GHRHR GHRH
17 adenohypophysis development GO:0021984 9.1 PROP1 POU1F1 GHRHR GHRH

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 double-stranded DNA binding GO:1990837 10 SOX3 PROP1 POU1F1 OTX2 LHX4 HESX1
2 hormone activity GO:0005179 9.44 TSHB TRH PRL POMC IGF1 GHRH
3 prolactin receptor binding GO:0005148 9.26 PRL GH1

Sources for Pituitary Hormone Deficiency, Combined, 2

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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