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CPHD2
MCID: PTT046
MIFTS: 56

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 58 76 13
Panhypopituitarism 58 12 77 60 76 56 6 15 74
Pituitary Hormone Deficiency, Combined 2 30 6
Ateliotic Dwarfism with Hypogonadism 58 76
Pituitary Dwarfism Iii 58 76
Hanhart Dwarfism 58 76
Cphd2 58 76
Hormone Deficiency, Pituitary, Combined, Type 2 41
Combined Pituitary Hormone Deficiency 45
Pituitary Dwarfism Type 3 74
Simmond's Disease 12
Simmonds' Disease 12
Sheehan Syndrome 74

Characteristics:

Orphanet epidemiological data:

60
panhypopituitarism
Inheritance: Autosomal recessive,X-linked recessive;

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
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: 34 35
Orphanet: 60  
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 : 76 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 pituitary hormone deficiency, combined, 1. An important gene associated with Pituitary Hormone Deficiency, Combined, 2 is PROP1 (PROP Paired-Like Homeobox 1), and among its related pathways/superpathways are Peptide ligand-binding receptors and G alpha (s) signalling events. Affiliated tissues include pituitary, thyroid and brain, and related phenotypes are hypotension and fatigue

Wikipedia : 77 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 271)
# Related Disease Score Top Affiliating Genes
1 combined pituitary hormone deficiencies, genetic forms 33.8 HESX1 LHX4 POU1F1 PROP1
2 pituitary hormone deficiency, combined, 1 32.7 HESX1 LHX3 LHX4 POU1F1
3 combined pituitary hormone deficiency 32.5 HESX1 LHX3 LHX4 POU1F1 PROP1
4 sheehan syndrome 32.3 IGF1 POMC PRL
5 hypothalamic disease 31.6 GH1 POMC PRL
6 diabetes insipidus 30.7 AVP POMC PRL
7 pituitary apoplexy 30.4 POMC PRL
8 hypopituitarism 30.4 GH1 HESX1 IGF1 LHX3 LHX4 POMC
9 lymphocytic hypophysitis 30.1 GH1 POMC
10 conn's syndrome 30.0 GH1 POMC PRL
11 kallmann syndrome 29.9 HESX1 LHX3 PROP1
12 abducens nerve disease 29.8 POMC PRL
13 hypoadrenalism 29.8 GH1 POMC
14 growth hormone deficiency 29.7 GH1 HESX1 IGF1 SOX3
15 hyperthyroidism 29.7 GH1 PRL TRH
16 pituitary infarct 29.7 IGF1 POMC PRL
17 amenorrhea 29.5 POMC PRL TRH
18 empty sella syndrome 29.4 GH1 IGF1 POMC PRL TRH
19 pituitary hypoplasia 29.4 HESX1 LHX3 LHX4 POU1F1 PRL SOX3
20 craniopharyngioma 29.4 GH1 IGF1 POU1F1 PRL PROP1 TRH
21 adenoma 29.3 GH1 IGF1 POMC PRL
22 pituitary stalk interruption syndrome 29.3 GH1 HESX1 LHX4 POU1F1 PRL SOX3
23 septooptic dysplasia 29.2 HESX1 LHX3 LHX4 POU1F1 PROP1 SOX3
24 pituitary tumors 29.2 GH1 IGF1 POMC POU1F1 PRL PROP1
25 turner syndrome 29.2 GH1 GHR IGF1
26 chromophobe adenoma 29.1 AVP GH1 POMC PRL TRH
27 anorexia nervosa 28.6 GH1 GHR IGF1 POMC PRL
28 acromegaly 28.4 GH1 GHR IGF1 POMC PRL TRH
29 isolated growth hormone deficiency 28.3 GH1 GHR HESX1 IGF1 POU1F1 PROP1
30 hypothyroidism 27.9 GH1 HESX1 IGF1 LHX3 POMC POU1F1
31 pituitary gland disease 27.4 AVP GH1 HESX1 IGF1 LHX3 POMC
32 panhypopituitarism, x-linked 12.5
33 mental retardation, x-linked, with panhypopituitarism 12.4
34 prop1-related combined pituitary hormone deficiency 12.4
35 pituitary hormone deficiency, combined, 4 11.6
36 microphthalmia, syndromic 5 11.6
37 pituitary hormone deficiency, combined, 6 11.6
38 pallister-hall syndrome 11.0
39 pituitary hormone deficiency, combined, 3 11.0
40 bile acid synthesis defect, congenital, 2 11.0
41 holoprosencephaly 9 11.0
42 isolated growth hormone deficiency type iii 10.4 HESX1 SOX3
43 neonatal thyrotoxicosis 10.4 LHX3 PROP1
44 galactorrhea 10.3 IGF1 PRL
45 chiasmal syndrome 10.3 POMC PRL
46 acidophil adenoma 10.3 IGF1 POMC
47 fibrous dysplasia/mccune-albright syndrome 10.3 GH1 PRL
48 pituitary carcinoma 10.2 POMC PRL
49 lymphoma 10.2
50 sella turcica neoplasm 10.2 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

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

60 33 (show all 35)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypotension 60 33 frequent (33%) Frequent (79-30%) HP:0002615
2 fatigue 60 33 frequent (33%) Frequent (79-30%) HP:0012378
3 hypoglycemia 60 33 frequent (33%) Frequent (79-30%) HP:0001943
4 hypogonadotrophic hypogonadism 60 33 frequent (33%) Frequent (79-30%) HP:0000044
5 depressed nasal ridge 60 33 frequent (33%) Frequent (79-30%) HP:0000457
6 decreased testicular size 60 33 frequent (33%) Frequent (79-30%) HP:0008734
7 infertility 60 33 frequent (33%) Frequent (79-30%) HP:0000789
8 pituitary hypothyroidism 60 33 frequent (33%) Frequent (79-30%) HP:0008245
9 decreased circulating acth level 60 33 frequent (33%) Frequent (79-30%) HP:0002920
10 abnormality of secondary sexual hair 60 33 frequent (33%) Frequent (79-30%) HP:0009888
11 aplasia/hypoplasia of the breasts 60 33 frequent (33%) Frequent (79-30%) HP:0010311
12 amenorrhea 60 33 frequent (33%) Frequent (79-30%) HP:0000141
13 abnormal prolactin level 60 33 frequent (33%) Frequent (79-30%) HP:0040086
14 anterior pituitary hypoplasia 60 33 frequent (33%) Frequent (79-30%) HP:0010627
15 osteopenia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000938
16 constipation 60 33 occasional (7.5%) Occasional (29-5%) HP:0002019
17 delayed skeletal maturation 60 33 occasional (7.5%) Occasional (29-5%) HP:0002750
18 delayed puberty 60 33 occasional (7.5%) Occasional (29-5%) HP:0000823
19 absence of secondary sex characteristics 60 33 occasional (7.5%) Occasional (29-5%) HP:0008187
20 osteoporosis of vertebrae 60 33 occasional (7.5%) Occasional (29-5%) HP:0005625
21 pituitary dwarfism 60 33 occasional (7.5%) Occasional (29-5%) HP:0000839
22 ectopic posterior pituitary 60 33 very rare (1%) Very rare (<4-1%) HP:0011755
23 ectopic anterior pituitary gland 60 33 very rare (1%) Very rare (<4-1%) HP:0012731
24 short stature 60 33 Frequent (79-30%) HP:0004322
25 hypothyroidism 33 HP:0000821
26 seizures 33 HP:0001250
27 growth delay 60 Frequent (79-30%)
28 hypogonadism 33 HP:0000135
29 neonatal hypoglycemia 33 HP:0001998
30 panhypopituitarism 33 HP:0000871
31 adrenal insufficiency 33 HP:0000846
32 hypoglycemic seizures 33 HP:0002173
33 prolactin deficiency 33 HP:0008202
34 growth hormone deficiency 60 Frequent (79-30%)
35 hypopituitarism 60 Obligate (100%)

Symptoms via clinical synopsis from OMIM:

58
Endocrine Features:
hypothyroidism
hypogonadism
panhypopituitarism
sequential loss of anterior pituitary tropic hormones
hypoadrenalism

Neurologic Central Nervous System:
hypoglycemic seizures

Laboratory Abnormalities:
low or absent growth hormone (gh)
low or absent follicle-stimulating hormone (fsh)
low or absent luteinizing hormone (lh)
low or absent adrenocorticotropic hormone (acth)
low or absent thyroid-stimulating hormone (tsh)
more
Metabolic Features:
neonatal hypoglycemia

Growth Height:
short stature (if untreated)

Clinical features from OMIM:

262600

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

47
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 10.11 GHR HESX1 IGF1 LHX3 LHX4 POMC
2 growth/size/body region MP:0005378 10.02 GHR HESX1 IGF1 LHX3 POMC POU1F1
3 homeostasis/metabolism MP:0005376 10 AVP GHR IGF1 LHX3 LHX4 POMC
4 mortality/aging MP:0010768 9.85 AVP GHR HESX1 IGF1 LHX3 LHX4
5 nervous system MP:0003631 9.73 AVP GHR HESX1 IGF1 LHX3 LHX4
6 reproductive system MP:0005389 9.23 GHR IGF1 LHX3 POU1F1 PRL PROP1
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 30 PROP1
Sources

Anatomical Context for Pituitary Hormone Deficiency, Combined, 2

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

42
Pituitary, Thyroid, Brain, Bone, B Cells, Myeloid, Pineal
Sources

Publications for Pituitary Hormone Deficiency, Combined, 2

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Articles related to Pituitary Hormone Deficiency, Combined, 2:

(show top 50) (show all 483)
# Title Authors Year
1
A case of de novo 18p deletion syndrome with panhypopituitarism. ( 30943682 )
2019
2
Heterozygous LHX3 mutations may lead to a mild phenotype of combined pituitary hormone deficiency. ( 30262920 )
2019
3
A homozygous splice site ROBO1 mutation in a patient with a novel syndrome with combined pituitary hormone deficiency. ( 30692597 )
2019
4
Homozygous variant in OTX2 and possible genetic modifiers identified in a patient with combined pituitary hormone deficiency, ocular involvement, myopathy, ataxia, and mitochondrial impairment. ( 30773800 )
2019
5
Combined pituitary hormone deficiency caused by a synonymous HESX1 gene mutation. ( 30888394 )
2019
6
Identification of a Novel PROP1 Mutation in a Patient with Combined Pituitary Hormone Deficiency and Enlarged Pituitary. ( 30988269 )
2019
7
Normal Growth despite Combined Pituitary Hormone Deficiency. ( 31022718 )
2019
8
Combined pituitary hormone deficiency caused by PROP1 mutations: update 20 years post-discovery. ( 31090814 )
2019
9
Genetic analysis of adult slovenian patients with combined pituitary hormone deficiency. ( 31093944 )
2019
10
Bilateral osteonecrosis of the hip in panhypopituitarism. ( 30765453 )
2019
11
Tuberculosis: A Common Infection with Rare Presentation, Isolated Sellar Tuberculoma with Panhypopituitarism. ( 31001028 )
2019
12
Panhypopituitarism: a rare cause of cardiac tamponade. ( 29917127 )
2018
13
Identification of SLC20A1 and SLC15A4 among other genes as potential risk factors for combined pituitary hormone deficiency. ( 29261175 )
2018
14
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
15
Novel GLI2 mutations identified in patients with Combined Pituitary Hormone Deficiency (CPHD): evidence for a pathogenic effect by functional characterization. ( 30548673 )
2018
16
Hemorrhagic fever with renal syndrome accompanied by panhypopituitarism and central diabetes insipidus: a case report. ( 29508304 )
2018
17
Granulomatosis With Polyangiitis as an Uncommon Cause of Panhypopituitarism. ( 29620590 )
2018
18
Extreme phenotypic variability of a novel GLI2 mutation in a large family with panhypopituitarism and polydactyly: clinical implications. ( 29876959 )
2018
19
Hypothalamic demyelination causing panhypopituitarism. ( 29722193 )
2018
20
Panhypopituitarism Without GH Replacement: About Insulin Sensitivity, CRP Levels, and Metabolic Syndrome. ( 30184563 )
2018
21
Combined pituitary hormone deficiency in a girl with 48, XXXX and Rathke's cleft cyst. ( 28500832 )
2017
22
A case of an infant with congenital combined pituitary hormone deficiency and normalized liver histology of infantile cholestasis after hormone replacement therapy. ( 29026274 )
2017
23
Cholestasis and hypercalcemia secondary to panhypopituitarism in a newborn. ( 29168375 )
2017
24
Cholestasis caused by panhypopituitarism and acquired cytomegalovirus infection in a 2-month-old male infant: A case report. ( 28445302 )
2017
25
A novel heterozygous intronic mutation in POU1F1 is associated with combined pituitary hormone deficiency. ( 27885216 )
2017
26
Two novel LHX3 mutations in patients with combined pituitary hormone deficiency including cervical rigidity and sensorineural hearing loss. ( 28302169 )
2017
27
Combined pituitary hormone deficiency due to gross deletions in the POU1F1 (PIT-1) and PROP1 genes. ( 28356564 )
2017
28
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
29
Growth without growth hormone in combined pituitary hormone deficiency caused by pituitary stalk interruption syndrome. ( 28443260 )
2017
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. ( 28734020 )
2017
31
Progression from isolated growth hormone deficiency to combined pituitary hormone deficiency. ( 29107171 )
2017
32
A newborn with combined pituitary hormone deficiency developing shock and sludge. ( 29176025 )
2017
33
Craniopharyngioma presenting with severe hyponatremia, hyponatremia-induced myopathy, and panhypopituitarism: a case report. ( 28160775 )
2017
34
Ventricular fibrillation and long-QT syndrome due to panhypopituitarism. ( 28562421 )
2017
35
Subacute Hypophysitis with Panhypopituitarism as First Presentation of HIV and Syphilis Coinfection. ( 28567314 )
2017
36
Acute-Onset Panhypopituitarism Nearly Missed by Initial Cosyntropin Testing. ( 29109870 )
2017
37
Managing panhypopituitarism in adults. ( 29112045 )
2017
38
Sheehan's Syndrome-The Most Common Cause of Panhypopituitarism at Moderate Altitude: A Sub-Himalayan Study. ( 29327517 )
2017
39
An unusual cause of panhypopituitarism ( 29393618 )
2017
40
A Newborn with Panhypopituitarism and Seizures. ( 28255477 )
2017
41
Neuropsychiatric Manifestations in a Patient with Panhypopituitarism. ( 28567321 )
2017
42
Hypophysitis, Panhypopituitarism, and Hypothalamitis in a Scottish Terrier Dog. ( 28745808 )
2017
43
A rare cause of respiratory distress and edema in neonate: Panhypopituitarism. ( 28971179 )
2017
44
Genesis of two most prevalent PROP1 gene variants causing combined pituitary hormone deficiency in 21 populations. ( 26059845 )
2016
45
Two coexisting heterozygous frameshift mutations in PROP1 are responsible for a different phenotype of combined pituitary hormone deficiency. ( 26608600 )
2016
46
MECHANISMS IN ENDOCRINOLOGY: An update in the genetic aetiologies of combined pituitary hormone deficiency. ( 26733480 )
2016
47
A novel mutation in HESX1 causes combined pituitary hormone deficiency without septo optic dysplasia phenotypes. ( 26781211 )
2016
48
Pituitary Microsomal Autoantibodies in Patients with Childhood-Onset Combined Pituitary Hormone Deficiency: an Antigen Identification Attempt. ( 26970862 )
2016
49
A Novel Mutation in OTX2 Causes Combined Pituitary Hormone Deficiency, Bilateral Microphthalmia, and Agenesis of the Left Internal Carotid Artery. ( 27299576 )
2016
50
Identification of Novel PROP1 and POU1F1 Mutations in Patients with Combined Pituitary Hormone Deficiency. ( 27756091 )
2016
Sources

Variations for Pituitary Hormone Deficiency, Combined, 2

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

76
# 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 81)
# 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.334C> T (p.Arg112Ter) single nucleotide variant Likely pathogenic rs766673446 GRCh38 Chromosome 5, 177994114: 177994114
28 PROP1 NM_006261.4(PROP1): c.334C> T (p.Arg112Ter) single nucleotide variant Likely pathogenic rs766673446 GRCh37 Chromosome 5, 177421115: 177421115
29 PROP1 NM_006261.4(PROP1): c.310delC (p.Arg104Glyfs) deletion Likely pathogenic rs786204663 GRCh38 Chromosome 5, 177994138: 177994138
30 PROP1 NM_006261.4(PROP1): c.310delC (p.Arg104Glyfs) deletion Likely pathogenic rs786204663 GRCh37 Chromosome 5, 177421139: 177421139
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 46;X;t(X;5)(q24;q13)dn Translocation Pathogenic
34 PROP1 NM_006261.4(PROP1): c.52G> A (p.Gly18Ser) single nucleotide variant Uncertain significance rs775353413 GRCh37 Chromosome 5, 177422883: 177422883
35 PROP1 NM_006261.4(PROP1): c.52G> A (p.Gly18Ser) single nucleotide variant Uncertain significance rs775353413 GRCh38 Chromosome 5, 177995882: 177995882
36 PROP1 NM_006261.4(PROP1): c.27T> C (p.Ala9=) single nucleotide variant Benign rs1135320 GRCh38 Chromosome 5, 177995907: 177995907
37 PROP1 NM_006261.4(PROP1): c.27T> C (p.Ala9=) single nucleotide variant Benign rs1135320 GRCh37 Chromosome 5, 177422908: 177422908
38 PROP1 NM_006261.4(PROP1): c.557delC (p.Ala186Valfs) deletion Likely pathogenic rs762529663 GRCh38 Chromosome 5, 177992833: 177992833
39 PROP1 NM_006261.4(PROP1): c.557delC (p.Ala186Valfs) deletion Likely pathogenic rs762529663 GRCh37 Chromosome 5, 177419834: 177419834
40 PROP1 NM_006261.4(PROP1): c.390_391delAC (p.Leu131Alafs) deletion Likely pathogenic rs1057517027 GRCh37 Chromosome 5, 177420000: 177420001
41 PROP1 NM_006261.4(PROP1): c.390_391delAC (p.Leu131Alafs) deletion Likely pathogenic rs1057517027 GRCh38 Chromosome 5, 177992999: 177993000
42 PROP1 NM_006261.4(PROP1): c.343-2A> T single nucleotide variant Likely pathogenic rs1057517041 GRCh37 Chromosome 5, 177420050: 177420050
43 PROP1 NM_006261.4(PROP1): c.343-2A> T single nucleotide variant Likely pathogenic rs1057517041 GRCh38 Chromosome 5, 177993049: 177993049
44 PROP1 NM_006261.4(PROP1): c.288_289delCT (p.Ile96Metfs) deletion Likely pathogenic rs1057516832 GRCh38 Chromosome 5, 177994159: 177994160
45 PROP1 NM_006261.4(PROP1): c.288_289delCT (p.Ile96Metfs) deletion Likely pathogenic rs1057516832 GRCh37 Chromosome 5, 177421160: 177421161
46 PROP1 NM_006261.4(PROP1): c.197dupC (p.His67Alafs) duplication Likely pathogenic rs1057517424 GRCh37 Chromosome 5, 177421252: 177421252
47 PROP1 NM_006261.4(PROP1): c.197dupC (p.His67Alafs) duplication Likely pathogenic rs1057517424 GRCh38 Chromosome 5, 177994251: 177994251
48 PROP1 NM_006261.4(PROP1): c.110-2A> G single nucleotide variant Likely pathogenic rs1057516846 GRCh38 Chromosome 5, 177994340: 177994340
49 PROP1 NM_006261.4(PROP1): c.110-2A> G single nucleotide variant Likely pathogenic rs1057516846 GRCh37 Chromosome 5, 177421341: 177421341
50 PROP1 NM_006261.4(PROP1): c.3G> C (p.Met1Ile) single nucleotide variant Likely pathogenic rs1064797071 GRCh37 Chromosome 5, 177422932: 177422932
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 67
Show member pathways
 13.15 AVP GH1 GHR POMC PRL TRH
2
G alpha (s) signalling events 67
11.71 AVP POMC TSHB
3
Peptide hormone metabolism 67
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
Development_Leptin signaling via JAK/STAT and MAPK cascades 23
Show member pathways
 10.88 POMC TRH
7
Growth hormone receptor signaling 67
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 space GO:0005615 9.8 AVP GH1 GHR IGF1 POMC PRL
2 extracellular region GO:0005576 9.76 AVP GH1 GHR IGF1 POMC PRL
3 endosome lumen GO:0031904 9.32 GH1 PRL
4 growth hormone receptor complex GO:0070195 8.96 GH1 GHR
5 secretory granule GO:0030141 8.8 AVP POMC TRH

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

(show all 25)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of apoptotic process GO:0043066 9.91 AVP IGF1 LHX3 LHX4 PROP1
2 cell-cell signaling GO:0007267 9.78 AVP POMC TRH TSHB
3 animal organ morphogenesis GO:0009887 9.77 LHX3 LHX4 PROP1
4 positive regulation of peptidyl-tyrosine phosphorylation GO:0050731 9.71 GH1 GHR IGF1
5 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.67 GH1 GHR IGF1
6 hormone-mediated signaling pathway GO:0009755 9.63 GHR TRH TSHB
7 ERK1 and ERK2 cascade GO:0070371 9.62 AVP IGF1
8 motor neuron axon guidance GO:0008045 9.61 LHX3 LHX4
9 negative regulation of release of cytochrome c from mitochondria GO:0090201 9.61 AVP IGF1
10 response to organic cyclic compound GO:0014070 9.6 AVP TRH
11 response to ethanol GO:0045471 9.58 AVP TRH
12 insulin-like growth factor receptor signaling pathway GO:0048009 9.58 GHR IGF1
13 positive regulation of multicellular organism growth GO:0040018 9.58 GH1 GHR POU1F1
14 positive regulation of insulin-like growth factor receptor signaling pathway GO:0043568 9.57 GH1 IGF1
15 growth hormone receptor signaling pathway GO:0060396 9.56 GH1 GHR
16 adenohypophysis development GO:0021984 9.52 POU1F1 PROP1
17 regulation of multicellular organism growth GO:0040014 9.5 GHR IGF1 PRL
18 regulation of signaling receptor activity GO:0010469 9.5 AVP GH1 IGF1 POMC PRL TRH
19 somatotropin secreting cell differentiation GO:0060126 9.43 POU1F1 PROP1
20 positive regulation of JAK-STAT cascade GO:0046427 9.43 GH1 GHR PRL
21 medial motor column neuron differentiation GO:0021526 9.37 LHX3 LHX4
22 JAK-STAT cascade involved in growth hormone signaling pathway GO:0060397 9.33 GH1 GHR PRL
23 pituitary gland development GO:0021983 8.92 HESX1 LHX3 POU1F1 SOX3
24 regulation of transcription, DNA-templated GO:0006355 10.09 HESX1 LHX3 LHX4 POU1F1 PROP1 SOX3
25 positive regulation of transcription by RNA polymerase II GO:0045944 10.02 IGF1 LHX3 LHX4 POMC POU1F1 PROP1

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 9.17 AVP GH1 IGF1 POMC PRL TRH
4 prolactin receptor binding GO:0005148 8.96 GH1 PRL
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Sources for Pituitary Hormone Deficiency, Combined, 2

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 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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