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CPHD2
MCID: PTT046
MIFTS: 62

Pituitary Hormone Deficiency, Combined, 2 (CPHD2)

Categories: Endocrine diseases, Eye diseases, Genetic diseases, Neuronal diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Pituitary Hormone Deficiency, Combined, 2

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

Name: Pituitary Hormone Deficiency, Combined, 2 57 72 13
Panhypopituitarism 57 12 73 43 72 54 6 15 70
Combined Pituitary Hormone Deficiency 12 43 36 44
Pituitary Hormone Deficiency, Combined 2 29 6
Pituitary Hormone Deficiency, Combined 29 6
Ateliotic Dwarfism with Hypogonadism 57 72
Pituitary Dwarfism Iii 57 72
Hanhart Dwarfism 57 72
Cphd2 57 72
Hormone Deficiency, Pituitary, Combined, Type 2 39
Pituitary Dwarfism Type 3 70
Simmond's Disease 12
Simmonds' Disease 12
Sheehan Syndrome 70
Cphd 43

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
age at diagnosis, 9 months to 8 years
initial presentation is growth retardation caused by either gh or tsh deficiency


HPO:

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


Classifications:

MalaCards categories:
Global: Genetic diseases
Anatomical: Endocrine diseases Eye diseases Neuronal diseases
See all MalaCards categories (disease lists)
ICD10: 32


External Ids:

Disease Ontology 12 DOID:9410
OMIM® 57 262600
OMIM Phenotypic Series 57 PS613038
KEGG 36 H02036
ICD9CM 34 253.2
NCIt 50 C110940
SNOMED-CT 67 154700009
ICD10 32 E23.0
MedGen 41 C0878683
UMLS 70 C0242342 C0242343 C0878683
Sources

Summaries for Pituitary Hormone Deficiency, Combined, 2

About this section
MedlinePlus Genetics : 43 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, 1 and non-acquired panhypopituitarism. 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 Testosterone and Hormone Antagonists have been mentioned in the context of this disorder. Affiliated tissues include pituitary, thyroid and bone, and related phenotypes are hypothyroidism and short stature

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 : 72 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 : 73 Hypopituitarism is the decreased (hypo) secretion of one or more of the eight hormones normally produced... more...

More information from OMIM: 262600 PS613038
Sources

Related Diseases for Pituitary Hormone Deficiency, Combined, 2

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

(show top 50) (show all 468)
# Related Disease Score Top Affiliating Genes
1 pituitary hormone deficiency, combined, 1 32.5 POU1F1 LHX4 LHX3 HESX1
2 non-acquired panhypopituitarism 32.1 SOX3 PROP1
3 diabetes insipidus 31.0 PRL POMC GH1 AVP
4 central precocious puberty 30.7 IGF1 GH1
5 hypothyroidism, congenital, nongoitrous, 4 30.7 TSHB PROP1 PRL POU1F1 POMC GH1
6 hypoglycemia 30.6 PRL POMC IGF1 GH1
7 lymphocytic hypophysitis 30.6 POMC GH1
8 secondary adrenal insufficiency 30.5 IGF1 AVP
9 galactorrhea 30.4 PRL IGF1
10 hypothalamic disease 30.3 TSHB TRH PRL POMC GHRH GH1
11 pituitary tumors 30.3 PROP1 PRL POMC IGF1 GH1
12 sheehan syndrome 30.2 TRH PROP1 PRL POMC LHX4 IGF1
13 craniopharyngioma 30.1 TRH PROP1 PRL POU1F1 IGF1 GH1
14 pituitary apoplexy 29.9 PRL POMC IGF1 GH1 AVP
15 abducens nerve disease 29.9 PRL POMC
16 amenorrhea 29.9 TRH PRL POMC IGF1
17 non-functioning pituitary adenoma 29.9 GHR GH1
18 hypothalamic obesity 29.9 IGF1 GHRH
19 fryns microphthalmia syndrome 29.9 OTX2 HESX1
20 empty sella syndrome 29.9 TRH PROP1 PRL POMC LHX3 IGF1
21 turner syndrome 29.9 IGF1 GHR GH1
22 dwarfism 29.9 GHRHR GHRH GHR GH1
23 optic nerve hypoplasia, bilateral 29.8 OTX2 HESX1 ESX1
24 growth hormone deficiency 29.8 SOX3 HESX1 GHRHR GHRH GH1
25 hyperthyroidism 29.6 TRH PRL POMC IGF1 GH1
26 insulin-like growth factor i 29.6 PRL IGF1 GHRH GHR GH1
27 chromophobe adenoma 29.4 TRH PRL POMC GH1 AVP
28 diabetes insipidus, neurohypophyseal 29.4 TRH PRL POMC AVP
29 adenoma 29.4 TRH PRL POU1F1 POMC IGF1 GHRH
30 hyperprolactinemia 29.3 TRH PRL POMC IGF1 GHRH GH1
31 congenital hypopituitarism 29.3 PROP1 LHX4 HESX1 GLI2 GHRH
32 congenital hypothyroidism 29.1 TSHB TRH PROP1 PRL POU1F1 LHX4
33 leptin deficiency or dysfunction 29.0 TRH POMC IGF1 GHRH
34 isolated growth hormone deficiency type iii 29.0 SOX3 IGF1 HESX1 GHRHR GHRH GH1
35 pituitary hypoplasia 28.9 SOX3 PRL POU1F1 OTX2 LHX4 LHX3
36 anorexia nervosa 28.9 PRL POMC IGF1 GHRH GHR GH1
37 acth deficiency, isolated 28.9 TRH PROP1 PRL POU1F1 POMC LHX4
38 cryptorchidism, unilateral or bilateral 28.8 SOX3 PROP1 PRL POMC LHX4 IGF1
39 pituitary adenoma, prolactin-secreting 28.7 TRH PRL POU1F1 POMC IGF1 GHRHR
40 pituitary infarct 28.7 TRH PRL POMC IGF1 GHRH AVP
41 hypothyroidism 28.6 TSHB TRH PROP1 PRL POU1F1 POMC
42 pituitary adenoma 28.6 TSHB TRH PRL POU1F1 POMC IGF1
43 kallmann syndrome 28.6 SOX3 PROP1 PRL POU1F1 OTX2 LHX4
44 acromegaly 28.6 TRH PRL POMC IGF1 GHRHR GHRH
45 hyperpituitarism 28.5 TRH PRL POMC IGF1 GHRH GHR
46 functioning pituitary adenoma 28.5 TRH PRL POMC IGF1 GHRH GHR
47 holoprosencephaly 28.5 SOX3 PROP1 POU1F1 OTX2 LHX4 LHX3
48 hypopituitarism 28.1 TRH SOX3 PROP1 PRL POU1F1 POMC
49 septooptic dysplasia 27.7 TSHB TRH SOX3 PROP1 PRL POU1F1
50 isolated growth hormone deficiency 27.2 SOX3 PROP1 POU1F1 POMC OTX2 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
Sources

Symptoms & Phenotypes for Pituitary Hormone Deficiency, Combined, 2

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

31 (show all 9)
# Description HPO Frequency HPO Source Accession
1 hypothyroidism 31 HP:0000821
2 short stature 31 HP:0004322
3 neonatal hypoglycemia 31 HP:0001998
4 panhypopituitarism 31 HP:0000871
5 hypogonadism 31 HP:0000135
6 adrenal insufficiency 31 HP:0000846
7 hypoglycemic seizures 31 HP:0002173
8 seizure 31 HP:0001250
9 reduced circulating prolactin concentration 31 HP:0008202

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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 05-Apr-2021)

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 9.44 GLI2
23 Decreased viability GR00221-A-2 9.44 GLI2
24 Decreased viability GR00249-S 9.44 GH1
25 Decreased viability GR00386-A-1 9.44 AVP GLI2 HESX1 LHX3 OTX2 POMC
26 Decreased viability GR00402-S-2 9.44 AVP GHRH PROP1

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 10.36 GHR GHRH GHRHR GLI2 HESX1 IGF1
2 growth/size/body region MP:0005378 10.31 GHR GHRH GHRHR GLI2 HESX1 IGF1
3 homeostasis/metabolism MP:0005376 10.27 AVP GHR GHRH GHRHR GLI2 IGF1
4 nervous system MP:0003631 10.19 AVP GHR GHRH GHRHR GLI2 HESX1
5 mortality/aging MP:0010768 10.13 AVP GHR GLI2 HESX1 IGF1 LHX3
6 craniofacial MP:0005382 10.02 GLI2 HESX1 LHX3 OTX2 POU1F1 SMPD3
7 reproductive system MP:0005389 9.97 GHR GHRH GHRHR GLI2 IGF1 LHX3
8 hearing/vestibular/ear MP:0005377 9.95 GHRHR GLI2 HESX1 IGF1 LHX3 OTX2
9 respiratory system MP:0005388 9.56 AVP GLI2 HESX1 IGF1 LHX4 OTX2
10 skeleton MP:0005390 9.32 GHR GHRH GHRHR GLI2 IGF1 OTX2
Sources

Drugs & Therapeutics for Pituitary Hormone Deficiency, Combined, 2

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Testosterone Approved, Investigational Phase 4 58-22-0 6013
2 Hormone Antagonists Phase 4
3 Hormones Phase 4
4 Androgens Phase 4

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 Tumor Classification and Its Application in Surgical Treatment of Craniopharyngioma Unknown status NCT00949156
3 A Clinical and Genetic Investigation of Pituitary and HYPOTHALAMIC Tumors and Related Disorders Recruiting NCT00001595
4 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

Sources

Genetic Tests for Pituitary Hormone Deficiency, Combined, 2

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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
Sources

Anatomical Context for Pituitary Hormone Deficiency, Combined, 2

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

40
Pituitary, Thyroid, Bone, Brain, Lung, Hypothalamus, Liver
Sources

Publications for Pituitary Hormone Deficiency, Combined, 2

About this section

Articles related to Pituitary Hormone Deficiency, Combined, 2:

(show top 50) (show all 1555)
# Title Authors PMID Year
1
Adrenocorticotropin deficiency in combined pituitary hormone deficiency patients homozygous for a novel PROP1 deletion. 54 61 6 57
11134108 2000
2
Longitudinal imaging reveals pituitary enlargement preceding hypoplasia in two brothers with combined pituitary hormone deficiency attributable to PROP1 mutation. 57 6 54
11549674 2001
3
Impaired adrenocorticotropin-adrenal axis in combined pituitary hormone deficiency caused by a two-base pair deletion (301-302delAG) in the prophet of Pit-1 gene. 54 57 6
10634415 2000
4
Longitudinal hormonal and pituitary imaging changes in two females with combined pituitary hormone deficiency due to deletion of A301,G302 in the PROP1 gene. 54 57 6
10084575 1999
5
Phenotypic variability in familial combined pituitary hormone deficiency caused by a PROP1 gene mutation resulting in the substitution of Arg-->Cys at codon 120 (R120C). 54 6 57
9768691 1998
6
Compound heterozygous deletion of the PROP-1 gene in children with combined pituitary hormone deficiency. 6 54 57
9661653 1998
7
Mutations in PROP1 cause familial combined pituitary hormone deficiency. 54 6 57
9462743 1998
8
A familial form of congenital hypopituitarism due to a PROP1 mutation in a large kindred: phenotypic and in vitro functional studies. 6 57
15531542 2004
9
PROP1 mutations cause progressive deterioration of anterior pituitary function including adrenal insufficiency: a longitudinal analysis. 6 57
15472232 2004
10
Long-term growth hormone therapy in adulthood results in significant linear growth in siblings with a PROP-1 gene mutation. 57 6
15472175 2004
11
Pituitary magnetic resonance imaging in 15 patients with Prop1 gene mutations: pituitary enlargement may originate from the intermediate lobe. 57 6
15126542 2004
12
PROP1 gene screening in patients with multiple pituitary hormone deficiency reveals two sites of hypermutability and a high incidence of corticotroph deficiency. 6 57
11549703 2001
13
The PROP1 2-base pair deletion is a common cause of combined pituitary hormone deficiency. 6 57
9745452 1998
14
General Tom Thumb and other midgets. 57 6
6046325 1967
15
Mutations within the transcription factor PROP1 are rare in a cohort of patients with sporadic combined pituitary hormone deficiency (CPHD). 54 61 6
15963055 2005
16
W194XProp1 and S156insTProp1, both of which have intact DNA-binding domain, show a different DNA-binding activity to the Prop1-binding element in human Pit-1 gene. 6 54
20381582 2010
17
Molecular analysis of novel PROP1 mutations associated with combined pituitary hormone deficiency (CPHD). 6 54
19128366 2009
18
PROP1 gene analysis in Portuguese patients with combined pituitary hormone deficiency. 54 6
16984240 2006
19
PROP-1 gene mutation (R120C) causing combined pituitary hormone deficiencies with variable clinical course in eight siblings of one Jewish Moroccan family. 54 6
14614227 2003
20
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
21
A unique case of combined pituitary hormone deficiency caused by a PROP1 gene mutation (R120C) associated with normal height and absent puberty. 6 54
12153609 2002
22
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
23
"Hot spot" in the PROP1 gene responsible for combined pituitary hormone deficiency. 54 6
10323394 1999
24
A mutational hot spot in the Prop-1 gene in Russian children with combined pituitary hormone deficiency. 6 54
11081182 1998
25
Molecular analysis of brazilian patients with combined pituitary hormone deficiency and orthotopic posterior pituitary lobe reveals eight different PROP1 alterations with three novel mutations. 6
28734020 2017
26
Two coexisting heterozygous frameshift mutations in PROP1 are responsible for a different phenotype of combined pituitary hormone deficiency. 6
26608600 2016
27
Cancerous leptomeningitis and familial congenital hypopituitarism. 6
26886902 2016
28
Genesis of two most prevalent PROP1 gene variants causing combined pituitary hormone deficiency in 21 populations. 6
26059845 2016
29
The c.301_302delAG PROP1 gene mutation in Romanian patients with multiple pituitary hormone deficiency. 6
25581745 2015
30
Molecular screening of a large cohort of Moroccan patients with congenital hypopituitarism. 6
25557026 2015
31
Novel Mutations in HESX1 and PROP1 Genes in Combined Pituitary Hormone Deficiency. 6
26111865 2015
32
Recombinant human growth hormone replacement in a Japanese man with a novel PROP1 gene mutation (R112X). 6
22111336 2011
33
Detection of genetic hypopituitarism in an adult population of idiopathic pituitary insufficiency patients with growth hormone deficiency. 6
21132537 2011
34
Mutations and pituitary morphology in a series of 82 patients with PROP1 gene defects. 6
22024773 2011
35
Longevity of the hypopituitary patients from the island Krk: a follow-up study. 57
20679996 2010
36
High prevalence of PROP1 gene mutations in Hungarian patients with childhood-onset combined anterior pituitary hormone deficiency. 6
17526936 2006
37
The natural history of the R120C PROP1 mutation reveals a wide phenotypic variability in two untreated adult brothers with combined pituitary hormone deficiency. 6
17526949 2006
38
Genetic screening of combined pituitary hormone deficiency: experience in 195 patients. 6
16735499 2006
39
Auxological and endocrine phenotype in a population-based cohort of patients with PROP1 gene defects. 6
16131601 2005
40
An uncommon phenotype with familial central hypogonadism caused by a novel PROP1 gene mutant truncated in the transactivation domain. 6
15941866 2005
41
Clinical and biochemical phenotype of familial anterior hypopituitarism from mutation of the PROP1 gene. 57
9920061 1999
42
Human Prop-1: cloning, mapping, genomic structure. Mutations in familial combined pituitary hormone deficiency. 6
9824293 1998
43
Pituitary stalk interruption syndrome: a clinical-biological-genetic assessment of its pathogenesis. 57
9329385 1997
44
The natural history of familial hypopituitarism. 57
2998186 1985
45
A familial syndrome of isolated "aplasia" of the anterior pituitary. Diagnostic studies and treatment in the neonatal period. 57
12119961 1974
46
Congenital absence of hypoplasia of the endocrine glands. 57
4918329 1969
47
Idiopathic anterior hypopituitarism in one of monozygous twins. 57
6017748 1967
48
Absence of pituitary gland, hypothyroidism, hypoadrenalism and hypogonadism in a 17-year-old dwarf. 57
4284833 1965
49
STUDIES IN ISOLATES. 57
14192062 1964
50
[Clinical, hereditary and constitutional studies of primordial dwarfs]. 57
13227184 1954
Sources

Variations for Pituitary Hormone Deficiency, Combined, 2

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

6 (show top 50) (show all 105)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PROP1 NM_006261.4(PROP1):c.150_151del (p.Gly52fs) Deletion Pathogenic 8097 rs587776681 GRCh37: 5:177421298-177421299
GRCh38: 5:177994297-177994298
2 PROP1 NM_006261.4(PROP1):c.263T>C (p.Phe88Ser) SNV Pathogenic 8100 rs121917841 GRCh37: 5:177421186-177421186
GRCh38: 5:177994185-177994185
3 PROP1 NM_006261.4(PROP1):c.112_124del (p.Ser38fs) Deletion Pathogenic 8101 rs587776682 GRCh37: 5:177421325-177421337
GRCh38: 5:177994324-177994336
4 PROP1 NM_006261.4(PROP1):c.218G>A (p.Arg73His) SNV Pathogenic 8103 rs121917842 GRCh37: 5:177421231-177421231
GRCh38: 5:177994230-177994230
5 PROP1 NM_006261.4(PROP1):c.295C>T (p.Arg99Ter) SNV Pathogenic 8105 rs121917844 GRCh37: 5:177421154-177421154
GRCh38: 5:177994153-177994153
6 PROP1 PROP1, 1-BP DEL, CODON 50, EX2 Deletion Pathogenic 889994 GRCh37:
GRCh38:
7 PROP1 NM_006261.4(PROP1):c.301_302del Microsatellite Pathogenic 8098 rs193922688 GRCh37: 5:177421147-177421148
GRCh38: 5:177994146-177994147
8 PROP1 NM_006261.4(PROP1):c.150del (p.Arg53fs) Deletion Pathogenic 8102 rs587776683 GRCh37: 5:177421299-177421299
GRCh38: 5:177994298-177994298
9 PROP1 NM_006261.4(PROP1):c.217C>T (p.Arg73Cys) SNV Pathogenic 8104 rs121917843 GRCh37: 5:177421232-177421232
GRCh38: 5:177994231-177994231
10 PROP1 NM_006261.4(PROP1):c.301_302del Microsatellite Pathogenic 8098 rs193922688 GRCh37: 5:177421147-177421148
GRCh38: 5:177994146-177994147
11 PROP1 NM_006261.4(PROP1):c.358C>T (p.Arg120Cys) SNV Pathogenic/Likely pathogenic 8095 rs121917839 GRCh37: 5:177420033-177420033
GRCh38: 5:177993032-177993032
12 PROP1 NM_006261.4(PROP1):c.359G>A (p.Arg120His) SNV Likely pathogenic 36701 rs769171020 GRCh37: 5:177420032-177420032
GRCh38: 5:177993031-177993031
13 PROP1 NM_006261.4(PROP1):c.342+1G>A SNV Likely pathogenic 553577 rs1436089021 GRCh37: 5:177421106-177421106
GRCh38: 5:177994105-177994105
14 PROP1 NM_006261.4(PROP1):c.156dup (p.Arg53fs) Duplication Likely pathogenic 557212 rs1554182514 GRCh37: 5:177421292-177421293
GRCh38: 5:177994291-177994292
15 PROP1 NM_006261.4(PROP1):c.384_385GC[3] (p.Ser130fs) Microsatellite Likely pathogenic 557236 rs1554182405 GRCh37: 5:177420003-177420004
GRCh38: 5:177993002-177993003
16 PROP1 NM_006261.4(PROP1):c.70_71GA[4] (p.His26fs) Microsatellite Likely pathogenic 557723 rs1554182632 GRCh37: 5:177422859-177422860
GRCh38: 5:177995858-177995859
17 PROP1 NM_006261.4(PROP1):c.340C>T (p.Gln114Ter) SNV Likely pathogenic 558722 rs1554182481 GRCh37: 5:177421109-177421109
GRCh38: 5:177994108-177994108
18 PROP1 NM_006261.4(PROP1):c.109+1G>T SNV Likely pathogenic 631963 rs1214465435 GRCh37: 5:177422825-177422825
GRCh38: 5:177995824-177995824
19 PROP1 NM_006261.4(PROP1):c.349T>A (p.Phe117Ile) SNV Likely pathogenic 8096 rs121917840 GRCh37: 5:177420042-177420042
GRCh38: 5:177993041-177993041
20 PROP1 NM_006261.4(PROP1):c.46C>T (p.Arg16Ter) SNV Likely pathogenic 36702 rs140016178 GRCh37: 5:177422889-177422889
GRCh38: 5:177995888-177995888
21 PROP1 NM_006261.4(PROP1):c.582G>A (p.Trp194Ter) SNV Likely pathogenic 8107 rs121917845 GRCh37: 5:177419809-177419809
GRCh38: 5:177992808-177992808
22 PROP1 NM_006261.4(PROP1):c.274C>T (p.Gln92Ter) SNV Likely pathogenic 161433 rs794726693 GRCh37: 5:177421175-177421175
GRCh38: 5:177994174-177994174
23 PROP1 NM_006261.4(PROP1):c.334C>T (p.Arg112Ter) SNV Likely pathogenic 188982 rs766673446 GRCh37: 5:177421115-177421115
GRCh38: 5:177994114-177994114
24 PROP1 NM_006261.4(PROP1):c.310del (p.Arg104fs) Deletion Likely pathogenic 189062 rs786204663 GRCh37: 5:177421139-177421139
GRCh38: 5:177994138-177994138
25 PROP1 NM_006261.4(PROP1):c.557del (p.Ala186fs) Deletion Likely pathogenic 371561 rs762529663 GRCh37: 5:177419834-177419834
GRCh38: 5:177992833-177992833
26 PROP1 NM_006261.4(PROP1):c.390_391del (p.Leu131fs) Deletion Likely pathogenic 371125 rs1057517027 GRCh37: 5:177420000-177420001
GRCh38: 5:177992999-177993000
27 PROP1 NM_006261.4(PROP1):c.110-2A>G SNV Likely pathogenic 370889 rs1057516846 GRCh37: 5:177421341-177421341
GRCh38: 5:177994340-177994340
28 PROP1 NM_006261.4(PROP1):c.197dup (p.His67fs) Duplication Likely pathogenic 371631 rs1057517424 GRCh37: 5:177421251-177421252
GRCh38: 5:177994250-177994251
29 PROP1 NM_006261.4(PROP1):c.288_289del (p.Ile96fs) Deletion Likely pathogenic 370872 rs1057516832 GRCh37: 5:177421160-177421161
GRCh38: 5:177994159-177994160
30 PROP1 NM_006261.4(PROP1):c.343-2A>T SNV Likely pathogenic 371145 rs1057517041 GRCh37: 5:177420050-177420050
GRCh38: 5:177993049-177993049
31 PROP1 NM_006261.4(PROP1):c.3G>C (p.Met1Ile) SNV Likely pathogenic 424617 rs1064797071 GRCh37: 5:177422932-177422932
GRCh38: 5:177995931-177995931
32 PROP1 NM_006261.4(PROP1):c.2T>C (p.Met1Thr) SNV Likely pathogenic 551288 rs1554182645 GRCh37: 5:177422933-177422933
GRCh38: 5:177995932-177995932
33 PROP1 NM_006261.4(PROP1):c.191dup (p.Arg65fs) Duplication Likely pathogenic 551422 rs1554182507 GRCh37: 5:177421257-177421258
GRCh38: 5:177994256-177994257
34 PROP1 NM_006261.4(PROP1):c.652dup (p.Ser218fs) Duplication Uncertain significance 552012 rs1554182363 GRCh37: 5:177419738-177419739
GRCh38: 5:177992737-177992738
35 PROP1 NM_006261.4(PROP1):c.20_22dup (p.Arg7dup) Duplication Uncertain significance 552210 rs1554182643 GRCh37: 5:177422912-177422913
GRCh38: 5:177995911-177995912
36 PROP1 NM_006261.4(PROP1):c.373C>T (p.Arg125Trp) SNV Uncertain significance 552692 rs146918863 GRCh37: 5:177420018-177420018
GRCh38: 5:177993017-177993017
37 PROP1 NM_006261.4(PROP1):c.*468C>T SNV Uncertain significance 353007 rs886060473 GRCh37: 5:177419242-177419242
GRCh38: 5:177992241-177992241
38 PROP1 NM_006261.4(PROP1):c.618G>A (p.Leu206=) SNV Uncertain significance 353013 rs765098843 GRCh37: 5:177419773-177419773
GRCh38: 5:177992772-177992772
39 PROP1 NM_006261.4(PROP1):c.*52G>A SNV Uncertain significance 353011 rs2233787 GRCh37: 5:177419658-177419658
GRCh38: 5:177992657-177992657
40 PROP1 NM_006261.4(PROP1):c.592T>C (p.Leu198=) SNV Uncertain significance 286901 rs780774091 GRCh37: 5:177419799-177419799
GRCh38: 5:177992798-177992798
41 PROP1 NM_006261.4(PROP1):c.335G>A (p.Arg112Gln) SNV Uncertain significance 353014 rs201266211 GRCh37: 5:177421114-177421114
GRCh38: 5:177994113-177994113
42 PROP1 NM_006261.4(PROP1):c.-260A>T SNV Uncertain significance 353020 rs886060476 GRCh37: 5:177423194-177423194
GRCh38: 5:177996193-177996193
43 PROP1 NM_006261.4(PROP1):c.623dup (p.Cys208fs) Duplication Uncertain significance 353012 rs886060474 GRCh37: 5:177419767-177419768
GRCh38: 5:177992766-177992767
44 PROP1 NM_006261.4(PROP1):c.109+13C>T SNV Uncertain significance 353015 rs759210335 GRCh37: 5:177422813-177422813
GRCh38: 5:177995812-177995812
45 PROP1 NM_006261.4(PROP1):c.-302G>A SNV Uncertain significance 353021 rs150629697 GRCh37: 5:177423236-177423236
GRCh38: 5:177996235-177996235
46 LHX3 NM_178138.6(LHX3):c.1155C>T (p.Pro385=) SNV Uncertain significance 737703 rs377653669 GRCh37: 9:139089210-139089210
GRCh38: 9:136197364-136197364
47 LHX3 NM_178138.6(LHX3):c.993G>A (p.Gln331=) SNV Uncertain significance 795409 rs752480970 GRCh37: 9:139089372-139089372
GRCh38: 9:136197526-136197526
48 LHX3 NM_178138.6(LHX3):c.919C>A (p.Arg307=) SNV Uncertain significance 798915 rs145867977 GRCh37: 9:139089446-139089446
GRCh38: 9:136197600-136197600
49 LHX3 NM_178138.6(LHX3):c.819C>T (p.Tyr273=) SNV Uncertain significance 799967 rs373923718 GRCh37: 9:139089546-139089546
GRCh38: 9:136197700-136197700
50 LHX3 NM_178138.6(LHX3):c.804G>A (p.Pro268=) SNV Uncertain significance 734416 rs771201500 GRCh37: 9:139089561-139089561
GRCh38: 9:136197715-136197715

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

72
# 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

Sources

Expression for Pituitary Hormone Deficiency, Combined, 2

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

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

# Super pathways Score Top Affiliating Genes
1
Peptide ligand-binding receptors 65
Show member pathways
 13.19 TSHB TRH PRL POMC GHRHR GHRH
2
Peptide hormone metabolism 65
Show member pathways
 11.88 TSHB POMC IGF1 GH1
3
Relaxin signaling pathway 36
Show member pathways
 11.76 POU1F1 POMC IGF1 GHRHR GHRH GHR
4
G alpha (s) signalling events 65
11.52 TSHB POMC GHRHR GHRH AVP
5
Glucocorticoid receptor regulatory network 1
11.49 PRL POU1F1 POMC
6
Endochondral Ossification 1
11.36 IGF1 GHR GH1
7
Growth hormone receptor signaling 65
Show member pathways
 10.94 PRL GHR GH1
Sources

GO Terms for Pituitary Hormone Deficiency, Combined, 2

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

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.96 TSHB TRH SMPD3 PRL POMC IGF1
2 extracellular space GO:0005615 9.92 TSHB PRL POMC IGF1 GHRH GHR
3 chromatin GO:0000785 9.76 SOX3 PROP1 POU1F1 OTX2 LHX4 LHX3
4 endosome lumen GO:0031904 9.37 PRL GH1
5 secretory granule GO:0030141 9.26 TRH POMC GHRHR AVP
6 growth hormone receptor complex GO:0070195 8.62 GHR GH1

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

(show all 26)
# Name GO ID Score Top Affiliating Genes
1 signal transduction GO:0007165 10.23 TRH SMPD3 PRL POMC IGF1 GHRHR
2 regulation of transcription by RNA polymerase II GO:0006357 10.16 PROP1 POU1F1 OTX2 LHX4 LHX3 HESX1
3 regulation of transcription, DNA-templated GO:0006355 10.14 SOX3 PROP1 POU1F1 OTX2 LHX4 LHX3
4 positive regulation of transcription by RNA polymerase II GO:0045944 10.01 SOX3 POU1F1 POMC OTX2 LHX4 LHX3
5 negative regulation of apoptotic process GO:0043066 10 LHX4 LHX3 IGF1 GLI2 AVP
6 positive regulation of cell proliferation GO:0008284 10 PRL IGF1 GLI2 GHRHR GHRH AVP
7 lung development GO:0030324 9.79 SMPD3 LHX3 GLI2
8 positive regulation of peptidyl-tyrosine phosphorylation GO:0050731 9.79 IGF1 GHR GH1
9 cell-cell signaling GO:0007267 9.77 TSHB TRH POMC GHRH AVP
10 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.75 IGF1 GHR GH1
11 hormone-mediated signaling pathway GO:0009755 9.72 TSHB TRH GHR
12 positive regulation of JAK-STAT cascade GO:0046427 9.69 PRL GHR GH1
13 mammary gland development GO:0030879 9.67 PRL GLI2 GHRHR
14 ERK1 and ERK2 cascade GO:0070371 9.65 IGF1 HESX1 AVP
15 insulin-like growth factor receptor signaling pathway GO:0048009 9.62 IGF1 GHR
16 regulation of multicellular organism growth GO:0040014 9.61 PRL IGF1 GHR
17 growth hormone receptor signaling pathway GO:0060396 9.6 GHR GH1
18 hormone metabolic process GO:0042445 9.59 GHRHR GHR
19 positive regulation of hormone secretion GO:0046887 9.58 GHRHR GHRH
20 positive regulation of growth hormone secretion GO:0060124 9.57 GHRHR GHRH
21 JAK-STAT cascade involved in growth hormone signaling pathway GO:0060397 9.5 PRL GHR GH1
22 medial motor column neuron differentiation GO:0021526 9.46 LHX4 LHX3
23 positive regulation of multicellular organism growth GO:0040018 9.46 GHRHR GHRH GHR GH1
24 adenohypophysis development GO:0021984 9.43 POU1F1 GHRHR GHRH
25 positive regulation of insulin-like growth factor receptor signaling pathway GO:0043568 9.26 IGF1 GHRHR GHRH GH1
26 pituitary gland development GO:0021983 9.02 SOX3 PROP1 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 10.02 SOX3 PROP1 POU1F1 OTX2 LHX4 LHX3
2 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.95 SOX3 PROP1 POU1F1 OTX2 LHX3 HESX1
3 DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001228 9.83 POU1F1 OTX2 LHX4 LHX3 GLI2
4 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.81 SOX3 PROP1 POU1F1 OTX2 LHX4 LHX3
5 RNA polymerase II regulatory region sequence-specific DNA binding GO:0000977 9.72 LHX4 LHX3 HESX1 GLI2 ESX1
6 sequence-specific double-stranded DNA binding GO:1990837 9.56 SOX3 PROP1 POU1F1 OTX2 LHX4 HESX1
7 prolactin receptor binding GO:0005148 9.26 PRL GH1
8 hormone activity GO:0005179 9.23 TSHB TRH PRL POMC IGF1 GHRH
Sources

Sources for Pituitary Hormone Deficiency, Combined, 2

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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