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CPHD2
MCID: PTT046
MIFTS: 61

Pituitary Hormone Deficiency, Combined, 2 (CPHD2)

Categories: Endocrine diseases, Genetic diseases, Rare diseases, Reproductive diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes
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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 75 13
Panhypopituitarism 57 12 76 59 75 29 55 6 15 73
Pituitary Hormone Deficiency, Combined 2 29 6
Ateliotic Dwarfism with Hypogonadism 57 75
Pituitary Dwarfism Iii 57 75
Hanhart Dwarfism 57 75
Cphd2 57 75
Hormone Deficiency, Pituitary, Combined, Type 2 40
Combined Pituitary Hormone Deficiency 44
Pituitary Dwarfism Type 3 73
Simmond's Disease 12
Simmonds' Disease 12
Sheehan Syndrome 73

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:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Reproductive diseases Endocrine diseases
See all MalaCards categories (disease lists)
ICD10: 33 34
Orphanet: 59  
Rare infertility disorders
Rare gynaecological and obstetric diseases
Rare endocrine diseases


Sources

Summaries for Pituitary Hormone Deficiency, Combined, 2

About this section
UniProtKB/Swiss-Prot : 75 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. Affiliated tissues include pituitary, thyroid and brain, and related phenotypes are osteopenia and constipation

Wikipedia : 76 Hypopituitarism is the decreased (hypo) secretion of one or more of the eight hormones normally produced... more...

Description from OMIM: 262600
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 248)
# Related Disease Score Top Affiliating Genes
1 combined pituitary hormone deficiencies, genetic forms 33.7 HESX1 LHX4 POU1F1 PROP1
2 combined pituitary hormone deficiency 32.5 HESX1 LHX3 LHX4 POU1F1 PROP1
3 sheehan syndrome 32.1 IGF1 POMC PRL
4 pituitary hormone deficiency, combined, 1 32.1 HESX1 LHX3 LHX4 POU1F1
5 hypothalamic disease 31.5 GH1 POMC PRL
6 hypopituitarism 30.8 GH1 HESX1 IGF1 LHX3 LHX4 POMC
7 diabetes insipidus 30.5 AVP POMC PRL
8 pituitary apoplexy 30.2 POMC PRL
9 conn's syndrome 29.9 GH1 POMC PRL
10 lymphocytic hypophysitis 29.9 GH1 POMC
11 kallmann syndrome 29.9 HESX1 LHX3 PROP1
12 craniopharyngioma 29.8 GH1 IGF1 POU1F1 PRL PROP1
13 empty sella syndrome 29.8 GH1 IGF1 POMC PRL
14 growth hormone deficiency 29.6 GH1 HESX1 IGF1 SOX3
15 abducens nerve disease 29.6 POMC PRL
16 hypoadrenalism 29.6 GH1 POMC
17 chromophobe adenoma 29.6 AVP GH1 POMC PRL
18 pituitary infarct 29.5 IGF1 POMC PRL
19 pituitary hypoplasia 29.4 HESX1 LHX3 LHX4 POU1F1 PRL SOX3
20 turner syndrome 29.4 GH1 GHR IGF1
21 pituitary stalk interruption syndrome 29.4 GH1 HESX1 LHX4 POU1F1 PRL SOX3
22 septooptic dysplasia 29.3 HESX1 LHX3 LHX4 POU1F1 PROP1 SOX3
23 adenoma 29.3 GH1 IGF1 POMC PRL
24 acromegaly 29.2 GH1 GHR IGF1 POMC PRL
25 anorexia nervosa 29.0 GH1 GHR IGF1 POMC PRL
26 isolated growth hormone deficiency 28.8 GH1 GHR HESX1 IGF1 POU1F1 PROP1
27 hypothyroidism 28.7 GH1 HESX1 IGF1 LHX3 POMC POU1F1
28 pituitary gland disease 28.2 AVP GH1 HESX1 IGF1 LHX3 POMC
29 prop1-related combined pituitary hormone deficiency 12.5
30 panhypopituitarism, x-linked 12.5
31 mental retardation, x-linked, with panhypopituitarism 12.4
32 pituitary hormone deficiency, combined, 3 12.0
33 pituitary hormone deficiency, combined, 4 11.2
34 microphthalmia, syndromic 5 11.2
35 pituitary hormone deficiency, combined, 6 11.2
36 pallister-hall syndrome 11.0
37 bile acid synthesis defect, congenital, 2 11.0
38 holoprosencephaly 9 11.0
39 isolated growth hormone deficiency type iii 10.2 HESX1 SOX3
40 neonatal thyrotoxicosis 10.2 LHX3 PROP1
41 lymphoma 10.2
42 galactorrhea 10.2 IGF1 PRL
43 chiasmal syndrome 10.1 POMC PRL
44 acidophil adenoma 10.1 IGF1 POMC
45 fibrous dysplasia/mccune-albright syndrome 10.1 GH1 PRL
46 pituitary carcinoma 10.1 POMC PRL
47 sella turcica neoplasm 10.1 POMC PRL
48 tuberculum sellae meningioma 10.1 POMC PRL
49 mammographic density 10.1 IGF1 PRL
50 nelson syndrome 10.1 POMC PRL

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

About this section

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

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

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

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 10.07 GHR HESX1 IGF1 LHX3 LHX4 POMC
2 growth/size/body region MP:0005378 9.97 GHR HESX1 IGF1 LHX3 POMC POU1F1
3 homeostasis/metabolism MP:0005376 9.96 AVP GHR IGF1 LHX3 LHX4 POMC
4 mortality/aging MP:0010768 9.85 AVP GHR HESX1 IGF1 LHX3 LHX4
5 nervous system MP:0003631 9.7 AVP GHR HESX1 IGF1 LHX3 LHX4
6 reproductive system MP:0005389 9.23 GHR IGF1 LHX3 POU1F1 PRL PROP1
Sources

Drugs & Therapeutics for Pituitary Hormone Deficiency, Combined, 2

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Search Clinical Trials , 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 Panhypopituitarism 29
Sources

Anatomical Context for Pituitary Hormone Deficiency, Combined, 2

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

41
Pituitary, Thyroid, Brain, Liver, Lung, B Cells, Myeloid
Sources

Publications for Pituitary Hormone Deficiency, Combined, 2

About this section

Articles related to Pituitary Hormone Deficiency, Combined, 2:

(show top 50) (show all 176)
# Title Authors Year
1
Heterozygous LHX3 mutations may lead to a mild phenotype of combined pituitary hormone deficiency. ( 30262920 )
2018
2
Precocious or early puberty in patients with combined pituitary hormone deficiency due to POU1F1 gene mutation: case report and review of possible mechanisms. ( 30460459 )
2018
3
Novel GLI2 mutations identified in patients with Combined Pituitary Hormone Deficiency (CPHD): evidence for a pathogenic effect by functional characterization. ( 30548673 )
2018
4
Granulomatosis With Polyangiitis as an Uncommon Cause of Panhypopituitarism. ( 29620590 )
2018
5
MULTI-SYSTEM SARCOIDOSIS CAUSING PANHYPOPITUITARISM: RAPID IMPROVEMENT WITH CORTICOSTEROID THERAPY. ( 30106631 )
2018
6
Hypothalamic demyelination causing panhypopituitarism. ( 29722193 )
2018
7
Panhypopituitarism Without GH Replacement: About Insulin Sensitivity, CRP Levels, and Metabolic Syndrome. ( 30184563 )
2018
8
Identification of SLC20A1 and SLC15A4 among other genes as potential risk factors for combined pituitary hormone deficiency. ( 29261175 )
2017
9
Pulsatile GnRH Therapy May Restore Hypothalamus-Pituitary-Testis Axis Function in Patients With Congenital Combined Pituitary Hormone Deficiency: A Prospective, Self-Controlled Trial. ( 28368486 )
2017
10
Growth without growth hormone in combined pituitary hormone deficiency caused by pituitary stalk interruption syndrome. ( 28443260 )
2017
11
Combined pituitary hormone deficiency in a girl with 48, XXXX and Rathke's cleft cyst. ( 28500832 )
2017
12
Combined pituitary hormone deficiency due to gross deletions in the POU1F1 (PIT-1) and PROP1 genes. ( 28356564 )
2017
13
Two novel LHX3 mutations in patients with combined pituitary hormone deficiency including cervical rigidity and sensorineural hearing loss. ( 28302169 )
2017
14
Progression from isolated growth hormone deficiency to combined pituitary hormone deficiency. ( 29107171 )
2017
15
Molecular analysis of brazilian patients with combined pituitary hormone deficiency and orthotopic posterior pituitary lobe reveals eight different PROP1 alterations with three novel mutations. ( 28734020 )
2017
16
A newborn with combined pituitary hormone deficiency developing shock and sludge. ( 29176025 )
2017
17
A case of an infant with congenital combined pituitary hormone deficiency and normalized liver histology of infantile cholestasis after hormone replacement therapy. ( 29026274 )
2017
18
Cholestasis and hypercalcemia secondary to panhypopituitarism in a newborn. ( 29168375 )
2017
19
Craniopharyngioma presenting with severe hyponatremia, hyponatremia-induced myopathy, and panhypopituitarism: a case report. ( 28160775 )
2017
20
Ventricular fibrillation and long-QT syndrome due to panhypopituitarism. ( 28562421 )
2017
21
A Newborn with Panhypopituitarism and Seizures. ( 28255477 )
2017
22
Neuropsychiatric Manifestations in a Patient with Panhypopituitarism. ( 28567321 )
2017
23
Hypophysitis, Panhypopituitarism, and Hypothalamitis in a Scottish Terrier Dog. ( 28745808 )
2017
24
A rare cause of respiratory distress and edema in neonate: Panhypopituitarism. ( 28971179 )
2017
25
Acute-Onset Panhypopituitarism Nearly Missed by Initial Cosyntropin Testing. ( 29109870 )
2017
26
Managing panhypopituitarism in adults. ( 29112045 )
2017
27
Sheehan's Syndrome-The Most Common Cause of Panhypopituitarism at Moderate Altitude: A Sub-Himalayan Study. ( 29327517 )
2017
28
An unusual cause of panhypopituitarism ( 29393618 )
2017
29
Genetics of Combined Pituitary Hormone Deficiency: Roadmap into the Genome Era. ( 27828722 )
2016
30
A novel mutation in HESX1 causes combined pituitary hormone deficiency without septo optic dysplasia phenotypes. ( 26781211 )
2016
31
Identification of Novel PROP1 and POU1F1 Mutations in Patients with Combined Pituitary Hormone Deficiency. ( 27756091 )
2016
32
A novel heterozygous intronic mutation in POU1F1 is associated with combined pituitary hormone deficiency. ( 27885216 )
2016
33
Pituitary Microsomal Autoantibodies in Patients with Childhood-Onset Combined Pituitary Hormone Deficiency: an Antigen Identification Attempt. ( 26970862 )
2016
34
Genetic causes of isolated and combined pituitary hormone deficiency. ( 27974184 )
2016
35
MECHANISMS IN ENDOCRINOLOGY: An update in the genetic aetiologies of combined pituitary hormone deficiency. ( 26733480 )
2016
36
A Novel Mutation in OTX2 Causes Combined Pituitary Hormone Deficiency, Bilateral Microphthalmia, and Agenesis of the Left Internal Carotid Artery. ( 27299576 )
2016
37
A Probable Case of Burn-out NASH Caused by Panhypopituitarism Secondary to Craniopharyngioma. ( 29115108 )
2016
38
AN UNUSUAL PRESENTATION OF JOUBERT SYNDROME AND RELATED DISORDERS IN A NEWBORN: PANHYPOPITUITARISM. ( 30204965 )
2016
39
Nonfunctional intra- and suprasellar tumor in a patient with visual disturbance and panhypopituitarism. ( 26278114 )
2016
40
Questioning the role of pituitary oxytocin in parturition: spontaneous onset of labor in women with panhypopituitarism--a case series. ( 26708476 )
2016
41
Bilateral femoral head avascular necrosis with a very low dose of oral corticosteroid used for panhypopituitarism. ( 26762348 )
2016
42
Late-onset panhypopituitarism in a 72-year-old male patient treated with ipilimumab for metastatic melanoma: a case report. ( 26883763 )
2016
43
Sphenoid mucocele with unusual panhypopituitarism. ( 27048396 )
2016
44
Resolution of non-alcoholic steatohepatitis after growth hormone replacement in a pediatric liver transplant patient with panhypopituitarism. ( 27762491 )
2016
45
Case report: recurrent abdominal symptoms in a child with panhypopituitarism - there is always a differential. ( 27766107 )
2016
46
Two coexisting heterozygous frameshift mutations in PROP1 are responsible for a different phenotype of combined pituitary hormone deficiency. ( 26608600 )
2015
47
Circulating microRNA profiles and the identification of miR-593 and miR-511 which directly target the PROP1 gene in children with combined pituitary hormone deficiency. ( 25434367 )
2015
48
Novel Mutations in HESX1 and PROP1 Genes in Combined Pituitary Hormone Deficiency. ( 26111865 )
2015
49
Frequency of genetic defects in combined pituitary hormone deficiency: a systematic review and analysis of a multicentre Italian cohort. ( 26147833 )
2015
50
Congenital combined pituitary hormone deficiency patients have better responses to gonadotrophin-induced spermatogenesis than idiopathic hypogonadotropic hypogonadism patients. ( 26141714 )
2015
Sources

Variations for Pituitary Hormone Deficiency, Combined, 2

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

75
# 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

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

6 (show top 50) (show all 74)
# Gene Variation Type Significance SNP ID Assembly Location
1 PROP1 NM_006261.4(PROP1): c.358C> T (p.Arg120Cys) single nucleotide variant Likely pathogenic rs121917839 GRCh37 Chromosome 5, 177420033: 177420033
2 PROP1 NM_006261.4(PROP1): c.358C> T (p.Arg120Cys) single nucleotide variant Likely pathogenic rs121917839 GRCh38 Chromosome 5, 177993032: 177993032
3 PROP1 NM_006261.4(PROP1): c.349T> A (p.Phe117Ile) single nucleotide variant Likely pathogenic rs121917840 GRCh37 Chromosome 5, 177420042: 177420042
4 PROP1 NM_006261.4(PROP1): c.349T> A (p.Phe117Ile) single nucleotide variant Likely pathogenic rs121917840 GRCh38 Chromosome 5, 177993041: 177993041
5 PROP1 NM_006261.4(PROP1): c.150_151delAG (p.Gly52Glufs) deletion Pathogenic rs587776681 GRCh38 Chromosome 5, 177994297: 177994298
6 PROP1 NM_006261.4(PROP1): c.150_151delAG (p.Gly52Glufs) deletion Pathogenic rs587776681 GRCh37 Chromosome 5, 177421298: 177421299
7 PROP1 NM_006261.4(PROP1): c.301_302delAG (p.Leu102Cysfs) deletion Pathogenic rs193922688 GRCh37 Chromosome 5, 177421147: 177421148
8 PROP1 NM_006261.4(PROP1): c.301_302delAG (p.Leu102Cysfs) deletion Pathogenic rs193922688 GRCh38 Chromosome 5, 177994146: 177994147
9 PROP1 NM_006261.4(PROP1): c.263T> C (p.Phe88Ser) single nucleotide variant Pathogenic rs121917841 GRCh37 Chromosome 5, 177421186: 177421186
10 PROP1 NM_006261.4(PROP1): c.263T> C (p.Phe88Ser) single nucleotide variant Pathogenic rs121917841 GRCh38 Chromosome 5, 177994185: 177994185
11 PROP1 NM_006261.4(PROP1): c.112_124delTCGAGTGCTCCAC (p.Ser38Profs) deletion Pathogenic rs587776682 GRCh38 Chromosome 5, 177994324: 177994336
12 PROP1 NM_006261.4(PROP1): c.112_124delTCGAGTGCTCCAC (p.Ser38Profs) deletion Pathogenic rs587776682 GRCh37 Chromosome 5, 177421325: 177421337
13 PROP1 NM_006261.4(PROP1): c.150delA (p.Arg53Aspfs) deletion Pathogenic rs587776683 GRCh38 Chromosome 5, 177994298: 177994298
14 PROP1 NM_006261.4(PROP1): c.150delA (p.Arg53Aspfs) deletion Pathogenic rs587776683 GRCh37 Chromosome 5, 177421299: 177421299
15 PROP1 NM_006261.4(PROP1): c.218G> A (p.Arg73His) single nucleotide variant Pathogenic rs121917842 GRCh37 Chromosome 5, 177421231: 177421231
16 PROP1 NM_006261.4(PROP1): c.218G> A (p.Arg73His) single nucleotide variant Pathogenic rs121917842 GRCh38 Chromosome 5, 177994230: 177994230
17 PROP1 NM_006261.4(PROP1): c.217C> T (p.Arg73Cys) single nucleotide variant Pathogenic rs121917843 GRCh37 Chromosome 5, 177421232: 177421232
18 PROP1 NM_006261.4(PROP1): c.217C> T (p.Arg73Cys) single nucleotide variant Pathogenic rs121917843 GRCh38 Chromosome 5, 177994231: 177994231
19 PROP1 NM_006261.4(PROP1): c.295C> T (p.Arg99Ter) single nucleotide variant Pathogenic rs121917844 GRCh37 Chromosome 5, 177421154: 177421154
20 PROP1 NM_006261.4(PROP1): c.295C> T (p.Arg99Ter) single nucleotide variant Pathogenic rs121917844 GRCh38 Chromosome 5, 177994153: 177994153
21 PROP1 NM_006261.4(PROP1): c.296G> A (p.Arg99Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs137853100 GRCh37 Chromosome 5, 177421153: 177421153
22 PROP1 NM_006261.4(PROP1): c.296G> A (p.Arg99Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs137853100 GRCh38 Chromosome 5, 177994152: 177994152
23 PROP1 NM_006261.4(PROP1): c.582G> A (p.Trp194Ter) single nucleotide variant Likely pathogenic rs121917845 GRCh37 Chromosome 5, 177419809: 177419809
24 PROP1 NM_006261.4(PROP1): c.582G> A (p.Trp194Ter) single nucleotide variant Likely pathogenic rs121917845 GRCh38 Chromosome 5, 177992808: 177992808
25 PROP1 NM_006261.4(PROP1): c.274C> T (p.Gln92Ter) single nucleotide variant Likely pathogenic rs794726693 GRCh38 Chromosome 5, 177994174: 177994174
26 PROP1 NM_006261.4(PROP1): c.274C> T (p.Gln92Ter) single nucleotide variant Likely pathogenic rs794726693 GRCh37 Chromosome 5, 177421175: 177421175
27 PROP1 NM_006261.4(PROP1): c.310delC (p.Arg104Glyfs) deletion Likely pathogenic rs786204663 GRCh38 Chromosome 5, 177994138: 177994138
28 PROP1 NM_006261.4(PROP1): c.310delC (p.Arg104Glyfs) deletion Likely pathogenic rs786204663 GRCh37 Chromosome 5, 177421139: 177421139
29 PROP1 NM_006261.4(PROP1): c.334C> T (p.Arg112Ter) single nucleotide variant Likely pathogenic rs766673446 GRCh38 Chromosome 5, 177994114: 177994114
30 PROP1 NM_006261.4(PROP1): c.334C> T (p.Arg112Ter) single nucleotide variant Likely pathogenic rs766673446 GRCh37 Chromosome 5, 177421115: 177421115
31 PROP1 NM_006261.4(PROP1): c.152G> C (p.Gly51Ala) single nucleotide variant Benign/Likely benign rs2233783 GRCh37 Chromosome 5, 177421297: 177421297
32 PROP1 NM_006261.4(PROP1): c.152G> C (p.Gly51Ala) single nucleotide variant Benign/Likely benign rs2233783 GRCh38 Chromosome 5, 177994296: 177994296
33 PROP1 NM_006261.4(PROP1): c.27T> C (p.Ala9=) single nucleotide variant Benign rs1135320 GRCh38 Chromosome 5, 177995907: 177995907
34 PROP1 NM_006261.4(PROP1): c.27T> C (p.Ala9=) single nucleotide variant Benign rs1135320 GRCh37 Chromosome 5, 177422908: 177422908
35 PROP1 NM_006261.4(PROP1): c.557delC (p.Ala186Valfs) deletion Likely pathogenic rs762529663 GRCh37 Chromosome 5, 177419834: 177419834
36 PROP1 NM_006261.4(PROP1): c.390_391delAC (p.Leu131Alafs) deletion Likely pathogenic rs1057517027 GRCh37 Chromosome 5, 177420000: 177420001
37 PROP1 NM_006261.4(PROP1): c.390_391delAC (p.Leu131Alafs) deletion Likely pathogenic rs1057517027 GRCh38 Chromosome 5, 177992999: 177993000
38 PROP1 NM_006261.4(PROP1): c.343-2A> T single nucleotide variant Likely pathogenic rs1057517041 GRCh37 Chromosome 5, 177420050: 177420050
39 PROP1 NM_006261.4(PROP1): c.557delC (p.Ala186Valfs) deletion Likely pathogenic rs762529663 GRCh38 Chromosome 5, 177992833: 177992833
40 PROP1 NM_006261.4(PROP1): c.343-2A> T single nucleotide variant Likely pathogenic rs1057517041 GRCh38 Chromosome 5, 177993049: 177993049
41 PROP1 NM_006261.4(PROP1): c.288_289delCT (p.Ile96Metfs) deletion Likely pathogenic rs1057516832 GRCh38 Chromosome 5, 177994159: 177994160
42 PROP1 NM_006261.4(PROP1): c.288_289delCT (p.Ile96Metfs) deletion Likely pathogenic rs1057516832 GRCh37 Chromosome 5, 177421160: 177421161
43 PROP1 NM_006261.4(PROP1): c.197dupC (p.His67Alafs) duplication Likely pathogenic rs1057517424 GRCh37 Chromosome 5, 177421252: 177421252
44 PROP1 NM_006261.4(PROP1): c.197dupC (p.His67Alafs) duplication Likely pathogenic rs1057517424 GRCh38 Chromosome 5, 177994251: 177994251
45 PROP1 NM_006261.4(PROP1): c.110-2A> G single nucleotide variant Likely pathogenic rs1057516846 GRCh38 Chromosome 5, 177994340: 177994340
46 PROP1 NM_006261.4(PROP1): c.110-2A> G single nucleotide variant Likely pathogenic rs1057516846 GRCh37 Chromosome 5, 177421341: 177421341
47 PROP1 NM_006261.4(PROP1): c.3G> C (p.Met1Ile) single nucleotide variant Likely pathogenic rs1064797071 GRCh37 Chromosome 5, 177422932: 177422932
48 PROP1 NM_006261.4(PROP1): c.3G> C (p.Met1Ile) single nucleotide variant Likely pathogenic rs1064797071 GRCh38 Chromosome 5, 177995931: 177995931
49 PROP1 NM_006261.4(PROP1): c.373C> T (p.Arg125Trp) single nucleotide variant Uncertain significance rs146918863 GRCh37 Chromosome 5, 177420018: 177420018
50 PROP1 NM_006261.4(PROP1): c.373C> T (p.Arg125Trp) single nucleotide variant Uncertain significance rs146918863 GRCh38 Chromosome 5, 177993017: 177993017
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 66
Show member pathways
 13.11 AVP GH1 GHR POMC PRL TSHB
2
G alpha (s) signalling events 66
11.66 AVP POMC TSHB
3
Peptide hormone metabolism 66
Show member pathways
 11.52 GH1 IGF1 POMC TSHB
4
Glucocorticoid receptor regulatory network 1
11.35 POMC POU1F1 PRL
5
Endochondral Ossification 1
11.14 GH1 GHR IGF1
6
Growth hormone receptor signaling 66
Show member pathways
 10.41 GH1 GHR PRL
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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 9.87 AVP GH1 GHR IGF1 POMC PRL
2 transcription factor complex GO:0005667 9.54 LHX3 POU1F1 PROP1
3 extracellular space GO:0005615 9.5 AVP GH1 GHR IGF1 POMC PRL
4 secretory granule GO:0030141 9.33 AVP POMC PRL
5 endosome lumen GO:0031904 9.26 GH1 PRL
6 growth hormone receptor complex GO:0070195 8.62 GH1 GHR

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

(show all 22)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 9.97 IGF1 LHX3 LHX4 POMC POU1F1 PROP1
2 positive regulation of cell proliferation GO:0008284 9.91 AVP IGF1 POU1F1 PRL
3 negative regulation of apoptotic process GO:0043066 9.88 AVP IGF1 LHX3 LHX4 PROP1
4 animal organ morphogenesis GO:0009887 9.74 LHX3 LHX4 PROP1
5 positive regulation of peptidyl-tyrosine phosphorylation GO:0050731 9.7 GH1 GHR IGF1
6 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.63 GH1 GHR IGF1
7 regulation of signaling receptor activity GO:0010469 9.63 AVP GH1 IGF1 POMC PRL TSHB
8 ERK1 and ERK2 cascade GO:0070371 9.6 AVP IGF1
9 motor neuron axon guidance GO:0008045 9.58 LHX3 LHX4
10 negative regulation of release of cytochrome c from mitochondria GO:0090201 9.58 AVP IGF1
11 positive regulation of multicellular organism growth GO:0040018 9.58 GH1 GHR POU1F1
12 insulin-like growth factor receptor signaling pathway GO:0048009 9.56 GHR IGF1
13 positive regulation of insulin-like growth factor receptor signaling pathway GO:0043568 9.55 GH1 IGF1
14 growth hormone receptor signaling pathway GO:0060396 9.54 GH1 GHR
15 adenohypophysis development GO:0021984 9.51 POU1F1 PROP1
16 regulation of multicellular organism growth GO:0040014 9.5 GHR IGF1 PRL
17 somatotropin secreting cell differentiation GO:0060126 9.43 POU1F1 PROP1
18 positive regulation of JAK-STAT cascade GO:0046427 9.43 GH1 GHR PRL
19 medial motor column neuron differentiation GO:0021526 9.37 LHX3 LHX4
20 JAK-STAT cascade involved in growth hormone signaling pathway GO:0060397 9.13 GH1 GHR PRL
21 pituitary gland development GO:0021983 8.92 HESX1 LHX3 POU1F1 SOX3
22 regulation of transcription, DNA-templated GO:0006355 10.07 HESX1 LHX3 LHX4 POU1F1 PROP1 SOX3

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 HESX1 LHX3 LHX4 POU1F1 PROP1 SOX3
2 sequence-specific DNA binding GO:0043565 9.55 HESX1 LHX3 LHX4 POU1F1 PROP1
3 hormone activity GO:0005179 9.1 AVP GH1 IGF1 POMC PRL TSHB
4 prolactin receptor binding GO:0005148 8.96 GH1 PRL
Sources

Sources for Pituitary Hormone Deficiency, Combined, 2

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 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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