MCID: PTT046
MIFTS: 57

Pituitary Hormone Deficiency, Combined, 2

Categories: Genetic diseases, Endocrine diseases, Reproductive diseases, Rare diseases

Aliases & Classifications for Pituitary Hormone Deficiency, Combined, 2

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

Name: Pituitary Hormone Deficiency, Combined, 2 53 71 13
Panhypopituitarism 53 12 72 55 71 28 51 14 69
Ateliotic Dwarfism with Hypogonadism 53 71
Pituitary Dwarfism Iii 53 71
Hanhart Dwarfism 53 71
Cphd2 53 71
Pituitary Hormone Deficiency, Combined 2 28
Combined Pituitary Hormone Deficiency 41
Pituitary Dwarfism Type 3 69
Panhypopituitarism Nos 12
Simmond's Disease 12
Simmonds' Disease 12
Sheehan Syndrome 69

Characteristics:

Orphanet epidemiological data:

55
panhypopituitarism
Inheritance: Autosomal recessive,X-linked recessive;

OMIM:

53
Inheritance:
autosomal recessive


HPO:

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


Classifications:



Summaries for Pituitary Hormone Deficiency, Combined, 2

UniProtKB/Swiss-Prot : 71 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 sheehan syndrome and combined pituitary hormone deficiency, and has symptoms including constipation, fatigue and osteopenia. An important gene associated with Pituitary Hormone Deficiency, Combined, 2 is PROP1 (PROP Paired-Like Homeobox 1), and among its related pathways/superpathways are Jak-STAT signaling pathway (KEGG) and G alpha (s) signalling events. Affiliated tissues include pituitary, thyroid and brain, and related phenotypes are endocrine/exocrine gland and growth/size/body region

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

Description from OMIM: 262600

Related Diseases for Pituitary Hormone Deficiency, Combined, 2

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

(show top 50) (show all 233)
# Related Disease Score Top Affiliating Genes
1 sheehan syndrome 31.9 IGF1 POMC PRL
2 combined pituitary hormone deficiency 31.3 HESX1 LHX3 LHX4 POU1F1 PROP1
3 hypothalamic disease 31.2 GH1 POMC PRL
4 diabetes insipidus 30.1 AVP POMC PRL
5 pituitary apoplexy 30.1 POMC PRL
6 lymphocytic hypophysitis 29.7 GH1 POMC
7 craniopharyngioma 29.7 IGF1 POU1F1 PRL PROP1
8 empty sella syndrome 29.7 GH1 POMC PRL
9 diabetes insipidus, neurohypophyseal 29.7 AVP POMC PRL
10 hypoadrenalism 29.4 GH1 POMC
11 pituitary infarct 29.3 IGF1 POMC PRL
12 hypopituitarism 29.3 GH1 HESX1 IGF1 LHX3 LHX4 POMC
13 growth hormone deficiency 29.0 GH1 HESX1 IGF1 PROP1 SOX3
14 adenoma 28.9 GH1 IGF1 POMC PRL
15 pituitary hypoplasia 28.8 HESX1 LHX3 LHX4 POU1F1 PRL SOX3
16 septooptic dysplasia 28.7 HESX1 LHX3 LHX4 POU1F1 PROP1 SOX3
17 acromegaly 28.4 GH1 GHR IGF1 POMC PRL
18 pituitary tumors 28.3 GH1 IGF1 POMC POU1F1 PRL PROP1
19 body mass index quantitative trait locus 11 28.3 GH1 GHR IGF1 POMC
20 bulimia nervosa 2 28.2 GH1 GHR IGF1 POMC PRL
21 pituitary adenoma 27.7 GH1 IGF1 POMC POU1F1 PRL TSHB
22 isolated growth hormone deficiency 27.1 GH1 GHR HESX1 IGF1 LHX3 LHX4
23 pituitary gland disease 26.7 AVP GH1 HESX1 IGF1 LHX3 POMC
24 panhypopituitarism, x-linked 12.3
25 mental retardation, x-linked, with panhypopituitarism 12.2
26 pallister-hall syndrome 10.9
27 bile acid synthesis defect, congenital, 2 10.9
28 holoprosencephaly 9 10.9
29 isolated growth hormone deficiency, type iii 10.4 HESX1 SOX3
30 neonatal thyrotoxicosis 10.4 LHX3 PROP1
31 galactorrhea 10.3 IGF1 PRL
32 acidophil adenoma 10.2 IGF1 POMC
33 fibrous dysplasia/mccune-albright syndrome 10.2 GH1 PRL
34 chiasmal syndrome 10.2 POMC PRL
35 sella turcica neoplasm 10.2 POMC PRL
36 tuberculum sellae meningioma 10.2 POMC PRL
37 mammographic density 10.2 IGF1 PRL
38 nelson syndrome 10.2 POMC PRL
39 acth-secreting pituitary adenoma 10.2 POMC PRL
40 gigantism 10.2 GH1 PRL
41 fasting hypoglycemia 10.1 IGF1 POMC
42 secondary adrenal insufficiency 10.1 AVP IGF1
43 non-functioning pituitary adenoma 10.1 GH1 GHR
44 combined pituitary hormone deficiencies, genetic forms 10.1 HESX1 LHX4 POU1F1 PROP1
45 central nervous system germinoma 10.1 AVP POMC
46 kallmann syndrome 10.1 HESX1 LHX3 PROP1
47 tuberculous epididymitis 10.1 AVP POMC
48 central nervous system germ cell tumor 10.1 AVP POMC
49 sex differentiation disease 10.1 POMC PRL
50 inappropriate adh syndrome 10.0 AVP POMC

Comorbidity relations with Pituitary Hormone Deficiency, Combined, 2 via Phenotypic Disease Network (PDN):


Acute Cystitis Deficiency Anemia
Diabetes Insipidus Hypothyroidism
Premature Ovarian Failure 7

Graphical network of the top 20 diseases related to Pituitary Hormone Deficiency, Combined, 2:



Diseases related to Pituitary Hormone Deficiency, Combined, 2

Symptoms & Phenotypes for Pituitary Hormone Deficiency, Combined, 2

Symptoms via clinical synopsis from OMIM:

53
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:

55 31 (show all 34)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 constipation 55 31 occasional (7.5%) Occasional (29-5%) HP:0002019
2 fatigue 55 31 frequent (33%) Frequent (79-30%) HP:0012378
3 osteopenia 55 31 occasional (7.5%) Occasional (29-5%) HP:0000938
4 hypotension 55 31 frequent (33%) Frequent (79-30%) HP:0002615
5 delayed skeletal maturation 55 31 occasional (7.5%) Occasional (29-5%) HP:0002750
6 short stature 55 31 Frequent (79-30%) HP:0004322
7 delayed puberty 55 31 occasional (7.5%) Occasional (29-5%) HP:0000823
8 hypoglycemia 55 31 frequent (33%) Frequent (79-30%) HP:0001943
9 hypogonadotrophic hypogonadism 55 31 frequent (33%) Frequent (79-30%) HP:0000044
10 depressed nasal ridge 55 31 frequent (33%) Frequent (79-30%) HP:0000457
11 absence of secondary sex characteristics 55 31 occasional (7.5%) Occasional (29-5%) HP:0008187
12 decreased testicular size 55 31 frequent (33%) Frequent (79-30%) HP:0008734
13 infertility 55 31 frequent (33%) Frequent (79-30%) HP:0000789
14 pituitary hypothyroidism 55 31 frequent (33%) Frequent (79-30%) HP:0008245
15 decreased circulating acth level 55 31 frequent (33%) Frequent (79-30%) HP:0002920
16 abnormality of secondary sexual hair 55 31 frequent (33%) Frequent (79-30%) HP:0009888
17 osteoporosis of vertebrae 55 31 occasional (7.5%) Occasional (29-5%) HP:0005625
18 aplasia/hypoplasia of the breasts 55 31 frequent (33%) Frequent (79-30%) HP:0010311
19 amenorrhea 55 31 frequent (33%) Frequent (79-30%) HP:0000141
20 abnormal prolactin level 55 31 frequent (33%) Frequent (79-30%) HP:0040086
21 anterior pituitary hypoplasia 55 31 frequent (33%) Frequent (79-30%) HP:0010627
22 pituitary dwarfism 55 31 occasional (7.5%) Occasional (29-5%) HP:0000839
23 ectopic posterior pituitary 55 31 very rare (1%) Very rare (<4-1%) HP:0011755
24 ectopic anterior pituitary gland 55 31 very rare (1%) Very rare (<4-1%) HP:0012731
25 hypothyroidism 31 HP:0000821
26 growth delay 55 Frequent (79-30%)
27 hypogonadism 31 HP:0000135
28 neonatal hypoglycemia 31 HP:0001998
29 panhypopituitarism 31 HP:0000871
30 adrenal insufficiency 31 HP:0000846
31 hypoglycemic seizures 31 HP:0002173
32 prolactin deficiency 31 HP:0008202
33 growth hormone deficiency 55 Frequent (79-30%)
34 hypopituitarism 55 Obligate (100%)

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

43
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 10.07 IGF1 PROP1 LHX3 SOX3 LHX4 POMC
2 growth/size/body region MP:0005378 9.97 TSHB HESX1 IGF1 PROP1 LHX3 SOX3
3 homeostasis/metabolism MP:0005376 9.96 PRL IGF1 PROP1 LHX3 SOX3 LHX4
4 mortality/aging MP:0010768 9.85 IGF1 PROP1 LHX3 SOX3 LHX4 AVP
5 nervous system MP:0003631 9.7 PRL IGF1 PROP1 LHX3 SOX3 LHX4
6 reproductive system MP:0005389 9.23 TSHB PRL IGF1 PROP1 LHX3 SOX3

Drugs & Therapeutics for Pituitary Hormone Deficiency, Combined, 2

Search Clinical Trials , NIH Clinical Center for Pituitary Hormone Deficiency, Combined, 2

Cochrane evidence based reviews: combined pituitary hormone deficiency

Genetic Tests for Pituitary Hormone Deficiency, Combined, 2

Genetic tests related to Pituitary Hormone Deficiency, Combined, 2:

# Genetic test Affiliating Genes
1 Pituitary Hormone Deficiency, Combined 2 28 PROP1
2 Panhypopituitarism 28

Anatomical Context for Pituitary Hormone Deficiency, Combined, 2

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

38
Pituitary, Thyroid, Brain

Publications for Pituitary Hormone Deficiency, Combined, 2

Articles related to Pituitary Hormone Deficiency, Combined, 2:

(show top 50) (show all 438)
# Title Authors Year
1
Combined pituitary hormone deficiency due to gross deletions in the POU1F1 (PIT-1) and PROP1 genes. ( 28356564 )
2017
2
Combined pituitary hormone deficiency in a girl with 48, XXXX and Rathke's cleft cyst. ( 28500832 )
2017
3
Growth without growth hormone in combined pituitary hormone deficiency caused by pituitary stalk interruption syndrome. ( 28443260 )
2017
4
Identification of SLC20A1 and SLC15A4 among other genes as potential risk factors for combined pituitary hormone deficiency. ( 29261175 )
2017
5
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
6
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
7
Hypopituitarism (Panhypopituitarism) ( 29262053 )
2017
8
Two novel LHX3 mutations in patients with combined pituitary hormone deficiency including cervical rigidity and sensorineural hearing loss. ( 28302169 )
2017
9
Progression from isolated growth hormone deficiency to combined pituitary hormone deficiency. ( 29107171 )
2017
10
A case of an infant with congenital combined pituitary hormone deficiency and normalized liver histology of infantile cholestasis after hormone replacement therapy. ( 29026274 )
2017
11
A newborn with combined pituitary hormone deficiency developing shock and sludge. ( 29176025 )
2017
12
Genetic causes of isolated and combined pituitary hormone deficiency. ( 27974184 )
2016
13
MECHANISMS IN ENDOCRINOLOGY: An update in the genetic aetiologies of combined pituitary hormone deficiency. ( 26733480 )
2016
14
A novel heterozygous intronic mutation in POU1F1 is associated with combined pituitary hormone deficiency. ( 27885216 )
2016
15
A Novel Mutation in OTX2 Causes Combined Pituitary Hormone Deficiency, Bilateral Microphthalmia, and Agenesis of the Left Internal Carotid Artery. ( 27299576 )
2016
16
Identification of Novel PROP1 and POU1F1 Mutations in Patients with Combined Pituitary Hormone Deficiency. ( 27756091 )
2016
17
A novel mutation in HESX1 causes combined pituitary hormone deficiency without septo optic dysplasia phenotypes. ( 26781211 )
2016
18
Panhypopituitarism due to Absence of the Pituitary Stalk: A Rare Aetiology of Liver Cirrhosis. ( 27213061 )
2016
19
Genetics of Combined Pituitary Hormone Deficiency: Roadmap into the Genome Era. ( 27828722 )
2016
20
Pituitary Microsomal Autoantibodies in Patients with Childhood-Onset Combined Pituitary Hormone Deficiency: an Antigen Identification Attempt. ( 26970862 )
2016
21
Effective Treatment of Solitary Pituitary Metastasis with Panhypopituitarism in HER2-Positive Breast Cancer by Lapatinib. ( 25715765 )
2015
22
1260: NEUROSARCOIDOSIS INDUCED PANHYPOPITUITARISM. ( 26570921 )
2015
23
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
24
Congenital combined pituitary hormone deficiency patients have better responses to gonadotrophin-induced spermatogenesis than idiopathic hypogonadotropic hypogonadism patients. ( 26141714 )
2015
25
Combined pituitary hormone deficiency with unique pituitary dysplasia and morning glory syndrome related to a heterozygous PROKR2 mutation. ( 25678757 )
2015
26
Hormones and the bone marrow: panhypopituitarism and pancytopenia in a man with a pituitary adenoma. ( 25583570 )
2015
27
Panhypopituitarism with Ectopic Posterior Pituitary Lobe, Heterotopia, Polymicrogyria, Corpus Callosum Dysgenesis, and Optic Chiasm/Nerve Hypoplasia: Is That an Undefined Neuronal Migration Syndrome? ( 25721080 )
2015
28
Genesis of two most prevalent PROP1 gene variants causing combined pituitary hormone deficiency in 21 populations. ( 26059845 )
2015
29
Frequency of genetic defects in combined pituitary hormone deficiency: a systematic review and analysis of a multicentre Italian cohort. ( 26147833 )
2015
30
Two coexisting heterozygous frameshift mutations in PROP1 are responsible for a different phenotype of combined pituitary hormone deficiency. ( 26608600 )
2015
31
A giant carotid aneurysm with intrasellar extension: a rare cause of panhypopituitarism. ( 25750573 )
2015
32
Neurofibromatosis 1-associated panhypopituitarism presenting as hypoglycaemic seizures and stroke-like symptoms. ( 26531733 )
2015
33
Heterozygous Deletion of FOXA2 Segregates with Disease in a Family with Heterotaxy, Panhypopituitarism, and Biliary Atresia. ( 25765999 )
2015
34
Novel Mutations in HESX1 and PROP1 Genes in Combined Pituitary Hormone Deficiency. ( 26111865 )
2015
35
Combined pituitary hormone deficiency: current and future status. ( 25200994 )
2014
36
Epithelioid inflammatory myofibroblastic sarcoma responsive to surgery and an ALK inhibitor in a patient with panhypopituitarism. ( 25274232 )
2014
37
Molecular analysis of PROP1, POU1F1, LHX3, and HESX1 in Turkish patients with combined pituitary hormone deficiency: a multicenter study. ( 25500790 )
2014
38
Multiple cutaneous hemangiomas in a patient with combined pituitary hormone deficiency. ( 24025721 )
2014
39
Frequent development of combined pituitary hormone deficiency in patients initially diagnosed as isolated growth hormone deficiency: a long term follow-up of patients from a single center. ( 25315032 )
2014
40
Morning glory syndrome associated with transsphenoidal encephalocele and panhypopituitarism. ( 24418230 )
2014
41
Holoprosencephaly: ZIC2 mutation in a case with panhypopituitarism. ( 24706429 )
2014
42
Anterior panhypopituitarism in diffuse large B-cell stage IV lymphoma. ( 24746111 )
2014
43
An unusual intracranial metallic foreign bodies and panhypopituitarism. ( 25667695 )
2014
44
Good pregnancy prognosis for a woman with panhypopituitarism. ( 24985604 )
2014
45
Sex steroids, precursors and metabolites deficiencies in men with isolated hypogonadotropic hypogonadism and panhypopituitarism: a GCMS-based comparative study. ( 25393641 )
2014
46
A novel KAL1 mutation is associated with combined pituitary hormone deficiency. ( 27081504 )
2014
47
Panhypopituitarism secondary to a solitary hypothalamic metastasis. ( 24859558 )
2014
48
Delineation of a region responsible for panhypopituitarism in 20p11.2. ( 23657910 )
2013
49
Reversible panhypopituitarism in a patient with Cushing's syndrome secondry to ectopic-adrenocorticotropic hormone producing small cell lung carcinoma. ( 24365756 )
2013
50
Single-nucleotide variants in two Hedgehog genes, SHH and HHIP, as genetic cause of combined pituitary hormone deficiency. ( 22897141 )
2013

Variations for Pituitary Hormone Deficiency, Combined, 2

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

71
# 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 all 23)
# Gene Variation Type Significance SNP ID Assembly Location
1 PROP1 NM_006261.4(PROP1): c.358C> T (p.Arg120Cys) single nucleotide variant Pathogenic/Likely pathogenic rs121917839 GRCh37 Chromosome 5, 177420033: 177420033
2 PROP1 NM_006261.4(PROP1): c.349T> A (p.Phe117Ile) single nucleotide variant Pathogenic/Likely pathogenic rs121917840 GRCh37 Chromosome 5, 177420042: 177420042
3 PROP1 NM_006261.4(PROP1): c.150_151delAG (p.Gly52Glufs) deletion Pathogenic rs587776681 GRCh38 Chromosome 5, 177994297: 177994298
4 PROP1 NM_006261.4(PROP1): c.301_302delAG (p.Leu102Cysfs) deletion Pathogenic rs193922688 GRCh37 Chromosome 5, 177421147: 177421148
5 PROP1 NM_006261.4(PROP1): c.263T> C (p.Phe88Ser) single nucleotide variant Pathogenic rs121917841 GRCh37 Chromosome 5, 177421186: 177421186
6 PROP1 NM_006261.4(PROP1): c.112_124delTCGAGTGCTCCAC (p.Ser38Profs) deletion Pathogenic/Likely pathogenic rs587776682 GRCh38 Chromosome 5, 177994324: 177994336
7 PROP1 NM_006261.4(PROP1): c.150delA (p.Arg53Aspfs) deletion Pathogenic rs587776683 GRCh38 Chromosome 5, 177994298: 177994298
8 PROP1 NM_006261.4(PROP1): c.218G> A (p.Arg73His) single nucleotide variant Pathogenic rs121917842 GRCh37 Chromosome 5, 177421231: 177421231
9 PROP1 NM_006261.4(PROP1): c.217C> T (p.Arg73Cys) single nucleotide variant Pathogenic rs121917843 GRCh37 Chromosome 5, 177421232: 177421232
10 PROP1 NM_006261.4(PROP1): c.295C> T (p.Arg99Ter) single nucleotide variant Pathogenic rs121917844 GRCh37 Chromosome 5, 177421154: 177421154
11 PROP1 NM_006261.4(PROP1): c.296G> A (p.Arg99Gln) single nucleotide variant Pathogenic rs137853100 GRCh37 Chromosome 5, 177421153: 177421153
12 PROP1 NM_006261.4(PROP1): c.582G> A (p.Trp194Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121917845 GRCh37 Chromosome 5, 177419809: 177419809
13 PROP1 NM_006261.4(PROP1): c.274C> T (p.Gln92Ter) single nucleotide variant Likely pathogenic rs794726693 GRCh38 Chromosome 5, 177994174: 177994174
14 PROP1 NM_006261.4(PROP1): c.334C> T (p.Arg112Ter) single nucleotide variant Likely pathogenic rs766673446 GRCh38 Chromosome 5, 177994114: 177994114
15 PROP1 NM_006261.4(PROP1): c.310delC (p.Arg104Glyfs) deletion Likely pathogenic rs786204663 GRCh38 Chromosome 5, 177994138: 177994138
16 46;X;t(X;5)(q24;q13)dn Translocation Pathogenic
17 PROP1 NM_006261.4(PROP1): c.557delC (p.Ala186Valfs) deletion Likely pathogenic rs762529663 GRCh37 Chromosome 5, 177419834: 177419834
18 PROP1 NM_006261.4(PROP1): c.390_391delAC (p.Leu131Alafs) deletion Likely pathogenic rs1057517027 GRCh37 Chromosome 5, 177420000: 177420001
19 PROP1 NM_006261.4(PROP1): c.343-2A> T single nucleotide variant Likely pathogenic rs1057517041 GRCh38 Chromosome 5, 177993049: 177993049
20 PROP1 NM_006261.4(PROP1): c.288_289delCT (p.Ile96Metfs) deletion Likely pathogenic rs1057516832 GRCh37 Chromosome 5, 177421160: 177421161
21 PROP1 NM_006261.4(PROP1): c.197dupC (p.His67Alafs) duplication Likely pathogenic rs1057517424 GRCh37 Chromosome 5, 177421252: 177421252
22 PROP1 NM_006261.4(PROP1): c.110-2A> G single nucleotide variant Likely pathogenic rs1057516846 GRCh38 Chromosome 5, 177994340: 177994340
23 PROP1 NM_006261.4(PROP1): c.3G> C (p.Met1Ile) single nucleotide variant Likely pathogenic rs1064797071 GRCh37 Chromosome 5, 177422932: 177422932

Expression for Pituitary Hormone Deficiency, Combined, 2

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

Pathways for Pituitary Hormone Deficiency, Combined, 2

GO Terms for Pituitary Hormone Deficiency, Combined, 2

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

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.7 AVP GH1 GHR IGF1 POMC PRL
2 transcription factor complex GO:0005667 9.43 LHX3 POU1F1 PROP1
3 endosome lumen GO:0031904 8.96 GH1 PRL
4 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 9.99 IGF1 LHX3 LHX4 POMC POU1F1 PROP1
2 negative regulation of apoptotic process GO:0043066 9.85 AVP IGF1 LHX3 LHX4 PROP1
3 animal organ morphogenesis GO:0009887 9.74 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 9.65 GH1 GHR IGF1
6 regulation of receptor activity GO:0010469 9.63 AVP GH1 IGF1 POMC PRL TSHB
7 hormone-mediated signaling pathway GO:0009755 9.61 GHR TSHB
8 ERK1 and ERK2 cascade GO:0070371 9.6 AVP IGF1
9 peptide hormone processing GO:0016486 9.59 POMC TSHB
10 motor neuron axon guidance GO:0008045 9.58 LHX3 LHX4
11 negative regulation of release of cytochrome c from mitochondria GO:0090201 9.58 AVP IGF1
12 positive regulation of multicellular organism growth GO:0040018 9.58 GH1 GHR POU1F1
13 insulin-like growth factor receptor signaling pathway GO:0048009 9.56 GHR IGF1
14 positive regulation of insulin-like growth factor receptor signaling pathway GO:0043568 9.55 GH1 IGF1
15 adenohypophysis development GO:0021984 9.52 POU1F1 PROP1
16 regulation of multicellular organism growth GO:0040014 9.5 GHR IGF1 PRL
17 growth hormone receptor signaling pathway GO:0060396 9.49 GH1 GHR
18 somatotropin secreting cell differentiation GO:0060126 9.43 POU1F1 PROP1
19 positive regulation of JAK-STAT cascade GO:0046427 9.43 GH1 GHR PRL
20 medial motor column neuron differentiation GO:0021526 9.37 LHX3 LHX4
21 JAK-STAT cascade involved in growth hormone signaling pathway GO:0060397 9.13 GH1 GHR PRL
22 pituitary gland development GO:0021983 8.92 HESX1 LHX3 POU1F1 SOX3

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

# Name GO ID Score Top Affiliating Genes
1 sequence-specific DNA binding GO:0043565 9.55 HESX1 LHX3 LHX4 POU1F1 PROP1
2 neuropeptide hormone activity GO:0005184 9.26 AVP POMC
3 hormone activity GO:0005179 9.1 AVP GH1 IGF1 POMC PRL TSHB
4 prolactin receptor binding GO:0005148 8.96 GH1 PRL

Sources for Pituitary Hormone Deficiency, Combined, 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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