MCID: PTT046
MIFTS: 56

Pituitary Hormone Deficiency, Combined, 2

Categories: Genetic diseases, Reproductive diseases, Endocrine 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 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:



Summaries for Pituitary Hormone Deficiency, Combined, 2

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 deficiency and sheehan syndrome. 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 ErbB4 Pathway. 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

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 227)
# Related Disease Score Top Affiliating Genes
1 combined pituitary hormone deficiency 32.0 HESX1 LHX3 LHX4 POU1F1 PROP1
2 sheehan syndrome 31.9 IGF1 POMC PRL
3 hypothalamic disease 31.1 GH1 POMC PRL
4 pituitary apoplexy 30.3 POMC PRL
5 diabetes insipidus 30.0 AVP POMC PRL
6 lymphocytic hypophysitis 29.9 GH1 POMC
7 hypoadrenalism 29.5 GH1 POMC
8 pituitary infarct 29.3 IGF1 POMC PRL
9 growth hormone deficiency 29.1 GH1 HESX1 IGF1 SOX3
10 septooptic dysplasia 29.0 HESX1 LHX3 POU1F1 PROP1 SOX3
11 empty sella syndrome 29.0 GH1 IGF1 POMC PRL
12 turner syndrome 28.9 GH1 GHR IGF1
13 craniopharyngioma 28.8 GH1 IGF1 POU1F1 PRL PROP1
14 adenoma 28.6 GH1 IGF1 POMC PRL
15 pituitary hypoplasia 28.5 HESX1 LHX3 LHX4 POU1F1 PRL SOX3
16 hypopituitarism 27.8 GH1 HESX1 IGF1 LHX3 LHX4 POMC
17 acromegaly 27.7 GH1 GHR IGF1 POMC PRL
18 pituitary tumors 27.7 GH1 IGF1 POMC POU1F1 PRL PROP1
19 anorexia nervosa 27.5 GH1 GHR IGF1 POMC PRL
20 isolated growth hormone deficiency 26.5 GH1 GHR HESX1 IGF1 LHX4 POU1F1
21 hypothyroidism 25.4 GH1 HESX1 IGF1 LHX3 POMC POU1F1
22 pituitary gland disease 25.2 AVP GH1 HESX1 IGF1 LHX3 POMC
23 panhypopituitarism, x-linked 12.3
24 mental retardation, x-linked, with panhypopituitarism 12.2
25 pallister-hall syndrome 10.9
26 bile acid synthesis defect, congenital, 2 10.9
27 holoprosencephaly 9 10.9
28 isolated growth hormone deficiency, type iii 10.7 HESX1 SOX3
29 neonatal thyrotoxicosis 10.7 LHX3 PROP1
30 galactorrhea 10.5 IGF1 PRL
31 acidophil adenoma 10.4 IGF1 POMC
32 chiasmal syndrome 10.4 POMC PRL
33 fibrous dysplasia/mccune-albright syndrome 10.4 GH1 PRL
34 pituitary carcinoma 10.4 POMC PRL
35 sella turcica neoplasm 10.4 POMC PRL
36 mammographic density 10.4 IGF1 PRL
37 tuberculum sellae meningioma 10.4 POMC PRL
38 nelson syndrome 10.3 POMC PRL
39 acth-secreting pituitary adenoma 10.3 POMC PRL
40 gigantism 10.3 GH1 PRL
41 fasting hypoglycemia 10.2 IGF1 POMC
42 secondary adrenal insufficiency 10.2 AVP IGF1
43 isolated growth hormone deficiency, type ib 10.2 GH1 IGF1
44 non-functioning pituitary adenoma 10.2 GH1 GHR
45 sex differentiation disease 10.2 POMC PRL
46 combined pituitary hormone deficiencies, genetic forms 10.2 HESX1 LHX4 POU1F1 PROP1
47 central nervous system germinoma 10.1 AVP POMC
48 tuberculous epididymitis 10.1 AVP POMC
49 kallmann syndrome 10.1 HESX1 LHX3 PROP1
50 central nervous system germ cell tumor 10.1 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:

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 HESX1 IGF1 LHX3 LHX4 POMC POU1F1
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

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 29 PROP1
2 Panhypopituitarism 29

Anatomical Context for Pituitary Hormone Deficiency, Combined, 2

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

41
Pituitary, Thyroid, Brain, Liver, Bone, Testis, Hypothalamus

Publications for Pituitary Hormone Deficiency, Combined, 2

Articles related to Pituitary Hormone Deficiency, Combined, 2:

(show top 50) (show all 133)
# Title Authors Year
1
Identification of SLC20A1 and SLC15A4 among other genes as potential risk factors for combined pituitary hormone deficiency. ( 29261175 )
2017
2
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
3
Growth without growth hormone in combined pituitary hormone deficiency caused by pituitary stalk interruption syndrome. ( 28443260 )
2017
4
Combined pituitary hormone deficiency in a girl with 48, XXXX and Rathke's cleft cyst. ( 28500832 )
2017
5
Combined pituitary hormone deficiency due to gross deletions in the POU1F1 (PIT-1) and PROP1 genes. ( 28356564 )
2017
6
Two novel LHX3 mutations in patients with combined pituitary hormone deficiency including cervical rigidity and sensorineural hearing loss. ( 28302169 )
2017
7
Progression from isolated growth hormone deficiency to combined pituitary hormone deficiency. ( 29107171 )
2017
8
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
9
A newborn with combined pituitary hormone deficiency developing shock and sludge. ( 29176025 )
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
Genetics of Combined Pituitary Hormone Deficiency: Roadmap into the Genome Era. ( 27828722 )
2016
12
A novel mutation in HESX1 causes combined pituitary hormone deficiency without septo optic dysplasia phenotypes. ( 26781211 )
2016
13
Identification of Novel PROP1 and POU1F1 Mutations in Patients with Combined Pituitary Hormone Deficiency. ( 27756091 )
2016
14
A novel heterozygous intronic mutation in POU1F1 is associated with combined pituitary hormone deficiency. ( 27885216 )
2016
15
Pituitary Microsomal Autoantibodies in Patients with Childhood-Onset Combined Pituitary Hormone Deficiency: an Antigen Identification Attempt. ( 26970862 )
2016
16
Genetic causes of isolated and combined pituitary hormone deficiency. ( 27974184 )
2016
17
MECHANISMS IN ENDOCRINOLOGY: An update in the genetic aetiologies of combined pituitary hormone deficiency. ( 26733480 )
2016
18
A Novel Mutation in OTX2 Causes Combined Pituitary Hormone Deficiency, Bilateral Microphthalmia, and Agenesis of the Left Internal Carotid Artery. ( 27299576 )
2016
19
Two coexisting heterozygous frameshift mutations in PROP1 are responsible for a different phenotype of combined pituitary hormone deficiency. ( 26608600 )
2015
20
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
21
Novel Mutations in HESX1 and PROP1 Genes in Combined Pituitary Hormone Deficiency. ( 26111865 )
2015
22
Frequency of genetic defects in combined pituitary hormone deficiency: a systematic review and analysis of a multicentre Italian cohort. ( 26147833 )
2015
23
Congenital combined pituitary hormone deficiency patients have better responses to gonadotrophin-induced spermatogenesis than idiopathic hypogonadotropic hypogonadism patients. ( 26141714 )
2015
24
Genesis of two most prevalent PROP1 gene variants causing combined pituitary hormone deficiency in 21 populations. ( 26059845 )
2015
25
Combined pituitary hormone deficiency with unique pituitary dysplasia and morning glory syndrome related to a heterozygous PROKR2 mutation. ( 25678757 )
2015
26
Molecular analysis of PROP1, POU1F1, LHX3, and HESX1 in Turkish patients with combined pituitary hormone deficiency: a multicenter study. ( 25500790 )
2014
27
Multiple cutaneous hemangiomas in a patient with combined pituitary hormone deficiency. ( 24025721 )
2014
28
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
29
A novel KAL1 mutation is associated with combined pituitary hormone deficiency. ( 27081504 )
2014
30
Combined pituitary hormone deficiency: current and future status. ( 25200994 )
2014
31
Single-nucleotide variants in two Hedgehog genes, SHH and HHIP, as genetic cause of combined pituitary hormone deficiency. ( 22897141 )
2013
32
A novel mutation in SOX3 polyalanine tract: a case of kabuki syndrome with combined pituitary hormone deficiency harboring double mutations in MLL2 and SOX3. ( 24346842 )
2013
33
Developmental analysis and influence of genetic background on the Lhx3 W227ter mouse model of combined pituitary hormone deficiency disease. ( 23288907 )
2013
34
Submicroscopic deletion involving the fibroblast growth factor receptor 1 gene in a patient with combined pituitary hormone deficiency. ( 23657145 )
2013
35
Genetic analyses of bone morphogenetic protein 2, 4 and 7 in congenital combined pituitary hormone deficiency. ( 24289245 )
2013
36
Unilateral agenesis of internal carotid artery associated with congenital combined pituitary hormone deficiency and pituitary stalk interruption without HESX1, LHX4 or OTX2 mutation: a case report. ( 22797803 )
2012
37
A recessive mutation resulting in a disabling amino acid substitution (T194R) in the LHX3 homeodomain causes combined pituitary hormone deficiency. ( 22286346 )
2012
38
Symptomatic heterozygotes and prenatal diagnoses in a nonconsanguineous family with syndromic combined pituitary hormone deficiency resulting from two novel LHX3 mutations. ( 22238406 )
2012
39
Two novel mutations in the POU1F1 gene generate null alleles through different mechanisms leading to combined pituitary hormone deficiency. ( 22010633 )
2012
40
Genetic overlap in Kallmann syndrome, combined pituitary hormone deficiency, and septo-optic dysplasia. ( 22319038 )
2012
41
Frequency of mutations in PROP-1 gene in Turkish children with combined pituitary hormone deficiency. ( 23692781 )
2012
42
Identification of a novel mutation in the exon 2 splice donor site of the POU1F1/PIT-1 gene in Japanese identical twins with mild combined pituitary hormone deficiency. ( 21722153 )
2012
43
A novel OTX2 mutation in a patient with combined pituitary hormone deficiency, pituitary malformation, and an underdeveloped left optic nerve. ( 22715480 )
2012
44
A novel POU1F1 mutation (p.Thr168IlefsX7) associated with an early and severe form of combined pituitary hormone deficiency: functional analysis and follow-up from infancy to adulthood. ( 21521297 )
2011
45
A novel mutation of LHX3 is associated with combined pituitary hormone deficiency including ACTH deficiency, sensorineural hearing loss, and short neck-a case report and review of the literature. ( 21249393 )
2011
46
Novel mutations associated with combined pituitary hormone deficiency. ( 21447626 )
2011
47
X-linked recessive combined pituitary hormone deficiency is mapped to Xp22.3-Xp11 in a Chinese family. ( 22001696 )
2011
48
Pituitary transcription factors in the aetiology of combined pituitary hormone deficiency. ( 21396574 )
2011
49
PROP1, HESX1, POU1F1, LHX3 and LHX4 mutation and deletion screening and GH1 P89L and IVS3+1/+2 mutation screening in a Dutch nationwide cohort of patients with combined pituitary hormone deficiency. ( 20389107 )
2010
50
ANE syndrome caused by mutated RBM28 gene: a novel etiology of combined pituitary hormone deficiency. ( 20231366 )
2010

Variations for Pituitary Hormone Deficiency, Combined, 2

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 all 49)
# 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 Pathogenic rs137853100 GRCh37 Chromosome 5, 177421153: 177421153
22 PROP1 NM_006261.4(PROP1): c.296G> A (p.Arg99Gln) single nucleotide variant Pathogenic 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 GRCh37 Chromosome 5, 177421139: 177421139
30 PROP1 NM_006261.4(PROP1): c.310delC (p.Arg104Glyfs) deletion Likely pathogenic rs786204663 GRCh38 Chromosome 5, 177994138: 177994138
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.27T> C (p.Ala9=) single nucleotide variant Benign rs1135320 GRCh38 Chromosome 5, 177995907: 177995907
35 PROP1 NM_006261.4(PROP1): c.27T> C (p.Ala9=) single nucleotide variant Benign rs1135320 GRCh37 Chromosome 5, 177422908: 177422908
36 PROP1 NM_006261.4(PROP1): c.557delC (p.Ala186Valfs) deletion Likely pathogenic rs762529663 GRCh37 Chromosome 5, 177419834: 177419834
37 PROP1 NM_006261.4(PROP1): c.390_391delAC (p.Leu131Alafs) deletion Likely pathogenic rs1057517027 GRCh37 Chromosome 5, 177420000: 177420001
38 PROP1 NM_006261.4(PROP1): c.390_391delAC (p.Leu131Alafs) deletion Likely pathogenic rs1057517027 GRCh38 Chromosome 5, 177992999: 177993000
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 GRCh37 Chromosome 5, 177420050: 177420050
41 PROP1 NM_006261.4(PROP1): c.343-2A> T single nucleotide variant Likely pathogenic rs1057517041 GRCh38 Chromosome 5, 177993049: 177993049
42 PROP1 NM_006261.4(PROP1): c.288_289delCT (p.Ile96Metfs) deletion Likely pathogenic rs1057516832 GRCh38 Chromosome 5, 177994159: 177994160
43 PROP1 NM_006261.4(PROP1): c.288_289delCT (p.Ile96Metfs) deletion Likely pathogenic rs1057516832 GRCh37 Chromosome 5, 177421160: 177421161
44 PROP1 NM_006261.4(PROP1): c.197dupC (p.His67Alafs) duplication Likely pathogenic rs1057517424 GRCh37 Chromosome 5, 177421252: 177421252
45 PROP1 NM_006261.4(PROP1): c.197dupC (p.His67Alafs) duplication Likely pathogenic rs1057517424 GRCh38 Chromosome 5, 177994251: 177994251
46 PROP1 NM_006261.4(PROP1): c.110-2A> G single nucleotide variant Likely pathogenic rs1057516846 GRCh38 Chromosome 5, 177994340: 177994340
47 PROP1 NM_006261.4(PROP1): c.110-2A> G single nucleotide variant Likely pathogenic rs1057516846 GRCh37 Chromosome 5, 177421341: 177421341
48 PROP1 NM_006261.4(PROP1): c.3G> C (p.Met1Ile) single nucleotide variant Likely pathogenic rs1064797071 GRCh37 Chromosome 5, 177422932: 177422932
49 PROP1 NM_006261.4(PROP1): c.3G> C (p.Met1Ile) single nucleotide variant Likely pathogenic rs1064797071 GRCh38 Chromosome 5, 177995931: 177995931

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 9.8 AVP GH1 GHR IGF1 POMC PRL
2 transcription factor complex GO:0005667 9.5 LHX3 POU1F1 PROP1
3 extracellular space GO:0005615 9.5 AVP GH1 GHR IGF1 POMC PRL
4 endosome lumen GO:0031904 9.16 GH1 PRL
5 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 23)
# 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 positive regulation of cell proliferation GO:0008284 9.91 AVP IGF1 POU1F1 PRL
3 negative regulation of apoptotic process GO:0043066 9.89 AVP IGF1 LHX3 LHX4 PROP1
4 animal organ morphogenesis GO:0009887 9.75 LHX3 LHX4 PROP1
5 positive regulation of peptidyl-tyrosine phosphorylation GO:0050731 9.72 GH1 GHR IGF1
6 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.65 GH1 GHR IGF1
7 response to nutrient levels GO:0031667 9.63 GH1 IGF1 PRL
8 ERK1 and ERK2 cascade GO:0070371 9.61 AVP IGF1
9 peptide hormone processing GO:0016486 9.6 POMC TSHB
10 motor neuron axon guidance GO:0008045 9.59 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 9.57 GHR IGF1
14 positive regulation of insulin-like growth factor receptor signaling pathway GO:0043568 9.56 GH1 IGF1
15 growth hormone receptor signaling pathway GO:0060396 9.54 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 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 regulation of signaling receptor activity GO:0010469 9.43 AVP GH1 IGF1 POMC PRL TSHB
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

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

# Name GO ID Score Top Affiliating Genes
1 RNA polymerase II transcription factor activity, sequence-specific DNA binding 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 neuropeptide hormone activity GO:0005184 9.32 AVP POMC
4 hormone activity GO:0005179 9.1 AVP GH1 IGF1 POMC PRL TSHB
5 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
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
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