MCID: CMB062
MIFTS: 37

Combined Pituitary Hormone Deficiencies, Genetic Forms

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

Aliases & Classifications for Combined Pituitary Hormone Deficiencies, Genetic Forms

MalaCards integrated aliases for Combined Pituitary Hormone Deficiencies, Genetic Forms:

Name: Combined Pituitary Hormone Deficiencies, Genetic Forms 52 58
Multiple Pituitary Hormone Deficiencies, Genetic Forms 52 58
Familial Congenital Hypopituitarism 52 58

Characteristics:

Orphanet epidemiological data:

58
combined pituitary hormone deficiencies, genetic forms
Inheritance: Autosomal dominant,Autosomal recessive,X-linked recessive;

Classifications:

Orphanet: 58  
Rare infertility disorders
Rare gynaecological and obstetric diseases
Rare endocrine diseases


Summaries for Combined Pituitary Hormone Deficiencies, Genetic Forms

MalaCards based summary : Combined Pituitary Hormone Deficiencies, Genetic Forms, also known as multiple pituitary hormone deficiencies, genetic forms, is related to congenital hypopituitarism and hypothyroidism. An important gene associated with Combined Pituitary Hormone Deficiencies, Genetic Forms is PROP1 (PROP Paired-Like Homeobox 1), and among its related pathways/superpathways are Mesodermal Commitment Pathway and Hedgehog signaling events mediated by Gli proteins. Affiliated tissues include pituitary, eye and breast, and related phenotypes are fatigue and hypoglycemia

Related Diseases for Combined Pituitary Hormone Deficiencies, Genetic Forms

Diseases related to Combined Pituitary Hormone Deficiencies, Genetic Forms via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 35, show less)
# Related Disease Score Top Affiliating Genes
1 congenital hypopituitarism 28.9 PROP1 LHX4 HESX1 GLI2
2 hypothyroidism 28.6 PROP1 POU1F1 LHX4 HESX1
3 hypopituitarism 27.4 PROP1 POU1F1 OTX2 LHX4 HESX1 GLI2
4 craniopharyngioma 10.0 PROP1 POU1F1
5 hypothyroidism, congenital, nongoitrous, 4 10.0 PROP1 POU1F1
6 hypothyroidism, central, with testicular enlargement 10.0 PROP1 POU1F1
7 acth deficiency, isolated 9.8 PROP1 LHX4
8 hypopituitarism, congenital, with central diabetes insipidus 9.8
9 diabetes mellitus 9.8
10 diabetes insipidus 9.8
11 hypoglycemia 9.8
12 melanotic medulloblastoma 9.7 OTX2 GLI2
13 nodular medulloblastoma 9.7 OTX2 GLI2
14 axenfeld-rieger syndrome 9.7 POU1F1 HESX1
15 fryns microphthalmia syndrome 9.7 OTX2 HESX1
16 adamantinous craniopharyngioma 9.7 PROP1 POU1F1 HESX1
17 isolated growth hormone deficiency, type ii 9.6 PROP1 POU1F1 HESX1
18 colobomatous microphthalmia 9.6 OTX2 HESX1
19 optic nerve hypoplasia, bilateral 9.5 OTX2 HESX1
20 cryptorchidism, unilateral or bilateral 9.5 PROP1 LHX4 HESX1
21 pituitary hormone deficiency, combined, 1 9.5 POU1F1 LHX4 HESX1
22 pituitary stalk interruption syndrome 9.5 POU1F1 LHX4 HESX1
23 basal cell nevus syndrome 9.4 OTX2 GLI2
24 microphthalmia 9.3 OTX2 HESX1 GLI2
25 infratentorial cancer 9.3 OTX2 GLI2
26 coloboma of macula 9.3 OTX2 HESX1 GLI2
27 hypothyroidism due to deficient transcription factors involved in pituitary development or function 9.2 PROP1 POU1F1 LHX4 HESX1
28 borjeson-forssman-lehmann syndrome 9.2 PROP1 POU1F1 LHX4 HESX1
29 pituitary gland disease 9.2 PROP1 POU1F1 LHX4 HESX1
30 pituitary hypoplasia 8.9 POU1F1 OTX2 LHX4 HESX1
31 isolated growth hormone deficiency 8.6 PROP1 POU1F1 OTX2 LHX4 HESX1
32 kallmann syndrome 8.6 PROP1 POU1F1 OTX2 LHX4 HESX1
33 pituitary hormone deficiency, combined, 2 8.3 PROP1 POU1F1 OTX2 LHX4 HESX1 GLI2
34 septooptic dysplasia 8.3 PROP1 POU1F1 OTX2 LHX4 HESX1 GLI2
35 holoprosencephaly 8.3 PROP1 POU1F1 OTX2 LHX4 HESX1 GLI2

Graphical network of the top 20 diseases related to Combined Pituitary Hormone Deficiencies, Genetic Forms:



Diseases related to Combined Pituitary Hormone Deficiencies, Genetic Forms

Symptoms & Phenotypes for Combined Pituitary Hormone Deficiencies, Genetic Forms

Human phenotypes related to Combined Pituitary Hormone Deficiencies, Genetic Forms:

58 31 (showing 41, show less)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 fatigue 58 31 frequent (33%) Frequent (79-30%) HP:0012378
2 hypoglycemia 58 31 frequent (33%) Frequent (79-30%) HP:0001943
3 osteopenia 58 31 frequent (33%) Frequent (79-30%) HP:0000938
4 depressed nasal ridge 58 31 frequent (33%) Frequent (79-30%) HP:0000457
5 decreased testicular size 58 31 frequent (33%) Frequent (79-30%) HP:0008734
6 infertility 58 31 frequent (33%) Frequent (79-30%) HP:0000789
7 hypotension 58 31 frequent (33%) Frequent (79-30%) HP:0002615
8 abnormality of secondary sexual hair 58 31 frequent (33%) Frequent (79-30%) HP:0009888
9 aplasia/hypoplasia of the breasts 58 31 frequent (33%) Frequent (79-30%) HP:0010311
10 pituitary hypothyroidism 58 31 frequent (33%) Frequent (79-30%) HP:0008245
11 amenorrhea 58 31 frequent (33%) Frequent (79-30%) HP:0000141
12 anterior pituitary hypoplasia 58 31 frequent (33%) Frequent (79-30%) HP:0010627
13 decreased circulating acth level 58 31 frequent (33%) Frequent (79-30%) HP:0002920
14 abnormal prolactin level 58 31 frequent (33%) Frequent (79-30%) HP:0040086
15 anterior pituitary agenesis 58 31 frequent (33%) Frequent (79-30%) HP:0010626
16 hypogonadotropic hypogonadism 31 frequent (33%) HP:0000044
17 delayed skeletal maturation 58 31 occasional (7.5%) Occasional (29-5%) HP:0002750
18 delayed puberty 58 31 occasional (7.5%) Occasional (29-5%) HP:0000823
19 constipation 58 31 occasional (7.5%) Occasional (29-5%) HP:0002019
20 osteoporosis of vertebrae 58 31 occasional (7.5%) Occasional (29-5%) HP:0005625
21 absence of secondary sex characteristics 58 31 occasional (7.5%) Occasional (29-5%) HP:0008187
22 pituitary dwarfism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000839
23 holoprosencephaly 58 31 very rare (1%) Very rare (<4-1%) HP:0001360
24 agenesis of corpus callosum 58 31 very rare (1%) Very rare (<4-1%) HP:0001274
25 severe global developmental delay 58 31 very rare (1%) Very rare (<4-1%) HP:0011344
26 median cleft lip and palate 58 31 very rare (1%) Very rare (<4-1%) HP:0008501
27 septo-optic dysplasia 58 31 very rare (1%) Very rare (<4-1%) HP:0100842
28 polydactyly 58 31 very rare (1%) Very rare (<4-1%) HP:0010442
29 ectopic posterior pituitary 58 31 very rare (1%) Very rare (<4-1%) HP:0011755
30 decreased cervical spine mobility 58 31 very rare (1%) Very rare (<4-1%) HP:0004637
31 ectopic anterior pituitary gland 58 31 very rare (1%) Very rare (<4-1%) HP:0012731
32 seizure 31 very rare (1%) HP:0001250
33 seizures 58 Very rare (<4-1%)
34 growth delay 58 Frequent (79-30%)
35 hypogonadotrophic hypogonadism 58 Frequent (79-30%)
36 abnormality of the eye 58 Very rare (<4-1%)
37 absent septum pellucidum 58 Very rare (<4-1%)
38 optic nerve hypoplasia 58 Very rare (<4-1%)
39 growth hormone deficiency 58 Frequent (79-30%)
40 hypopituitarism 58 Obligate (100%)
41 abnormality of digit 58 Very rare (<4-1%)

GenomeRNAi Phenotypes related to Combined Pituitary Hormone Deficiencies, Genetic Forms according to GeneCards Suite gene sharing:

26 (showing 3, show less)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased Nanog expression GR00371-A-1 9.02 PROP1
2 Increased Nanog expression GR00371-A-3 9.02 PROP1
3 Increased Nanog expression GR00371-A-5 9.02 GLI2 POU1F1 PROP1

MGI Mouse Phenotypes related to Combined Pituitary Hormone Deficiencies, Genetic Forms:

45 (showing 9, show less)
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.98 FOXA2 GLI2 HESX1 LHX4 OTX2 POU1F1
2 growth/size/body region MP:0005378 9.88 FOXA2 GLI2 HESX1 OTX2 POU1F1 PROP1
3 craniofacial MP:0005382 9.85 FOXA2 GLI2 HESX1 OTX2 POU1F1
4 homeostasis/metabolism MP:0005376 9.8 FOXA2 GLI2 LHX4 OTX2 POU1F1 PROP1
5 mortality/aging MP:0010768 9.8 FOXA2 GLI2 HESX1 LHX4 OTX2 POU1F1
6 nervous system MP:0003631 9.7 FOXA2 GLI2 HESX1 LHX4 OTX2 POU1F1
7 hearing/vestibular/ear MP:0005377 9.67 GLI2 HESX1 OTX2 POU1F1
8 reproductive system MP:0005389 9.35 FOXA2 GLI2 OTX2 POU1F1 PROP1
9 respiratory system MP:0005388 9.1 FOXA2 GLI2 HESX1 LHX4 OTX2 PROP1

Drugs & Therapeutics for Combined Pituitary Hormone Deficiencies, Genetic Forms

Search Clinical Trials , NIH Clinical Center for Combined Pituitary Hormone Deficiencies, Genetic Forms

Genetic Tests for Combined Pituitary Hormone Deficiencies, Genetic Forms

Anatomical Context for Combined Pituitary Hormone Deficiencies, Genetic Forms

MalaCards organs/tissues related to Combined Pituitary Hormone Deficiencies, Genetic Forms:

40
Pituitary, Eye, Breast

Publications for Combined Pituitary Hormone Deficiencies, Genetic Forms

Articles related to Combined Pituitary Hormone Deficiencies, Genetic Forms:

(showing 3, show less)
# Title Authors PMID Year
1
Hypopituitarism in five PROP1 mutation siblings: long-lasting natural course and the effects of growth hormone replacement introduction in middle adulthood. 61
32415500 2020
2
Cancerous leptomeningitis and familial congenital hypopituitarism. 61
26886902 2016
3
Familial congenital hypopituitarism with central diabetes insipidus. 61
8157716 1994

Variations for Combined Pituitary Hormone Deficiencies, Genetic Forms

ClinVar genetic disease variations for Combined Pituitary Hormone Deficiencies, Genetic Forms:

6 (showing 5, show less) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PROP1 NM_006261.4(PROP1):c.301_302delshort repeat Pathogenic 8098 rs193922688 5:177421147-177421148 5:177994146-177994147
2 PROP1 NM_006261.4(PROP1):c.359G>A (p.Arg120His)SNV Likely pathogenic 36701 rs769171020 5:177420032-177420032 5:177993031-177993031
3 PROP1 NM_006261.4(PROP1):c.46C>T (p.Arg16Ter)SNV Likely pathogenic 36702 rs140016178 5:177422889-177422889 5:177995888-177995888
4 PROP1 NM_006261.4(PROP1):c.174G>A (p.Pro58=)SNV Benign/Likely benign 36699 rs2233784 5:177421275-177421275 5:177994274-177994274
5 POU1F1 NM_000306.4(POU1F1):c.143-4A>TSNV Benign 36694 rs35893626 3:87322572-87322572 3:87273422-87273422

Expression for Combined Pituitary Hormone Deficiencies, Genetic Forms

Search GEO for disease gene expression data for Combined Pituitary Hormone Deficiencies, Genetic Forms.

Pathways for Combined Pituitary Hormone Deficiencies, Genetic Forms

Pathways related to Combined Pituitary Hormone Deficiencies, Genetic Forms according to GeneCards Suite gene sharing:

(showing 3, show less)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.61 OTX2 GLI2 FOXA2
2 10.8 GLI2 FOXA2
3 10.28 OTX2 GLI2 FOXA2

GO Terms for Combined Pituitary Hormone Deficiencies, Genetic Forms

Cellular components related to Combined Pituitary Hormone Deficiencies, Genetic Forms according to GeneCards Suite gene sharing:

(showing 2, show less)
# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 9.5 PROP1 POU1F1 OTX2 LHX4 HESX1 GLI2
2 nuclear chromatin GO:0000790 9.1 PROP1 POU1F1 OTX2 LHX4 HESX1 FOXA2

Biological processes related to Combined Pituitary Hormone Deficiencies, Genetic Forms according to GeneCards Suite gene sharing:

(showing 15, show less)
# Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 9.84 OTX2 HESX1 GLI2 FOXA2
2 negative regulation of transcription by RNA polymerase II GO:0000122 9.8 PROP1 POU1F1 HESX1 GLI2
3 positive regulation of transcription, DNA-templated GO:0045893 9.76 POU1F1 OTX2 GLI2 FOXA2
4 negative regulation of apoptotic process GO:0043066 9.72 PROP1 LHX4 GLI2
5 regulation of transcription, DNA-templated GO:0006355 9.63 PROP1 POU1F1 OTX2 LHX4 HESX1 FOXA2
6 dorsal/ventral pattern formation GO:0009953 9.52 PROP1 GLI2
7 cell fate specification GO:0001708 9.51 POU1F1 FOXA2
8 dopaminergic neuron differentiation GO:0071542 9.48 OTX2 FOXA2
9 positive regulation of embryonic development GO:0040019 9.43 OTX2 FOXA2
10 positive regulation of transcription by RNA polymerase II GO:0045944 9.43 PROP1 POU1F1 OTX2 LHX4 GLI2 FOXA2
11 primitive streak formation GO:0090009 9.4 OTX2 FOXA2
12 adenohypophysis development GO:0021984 9.37 PROP1 POU1F1
13 positive regulation of gastrulation GO:2000543 9.32 OTX2 FOXA2
14 somatotropin secreting cell differentiation GO:0060126 9.26 PROP1 POU1F1
15 pituitary gland development GO:0021983 8.92 PROP1 POU1F1 HESX1 GLI2

Molecular functions related to Combined Pituitary Hormone Deficiencies, Genetic Forms according to GeneCards Suite gene sharing:

(showing 7, show less)
# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 9.87 PROP1 POU1F1 OTX2 LHX4 HESX1 GLI2
2 DNA-binding transcription factor activity GO:0003700 9.71 POU1F1 OTX2 GLI2 FOXA2
3 chromatin binding GO:0003682 9.67 PROP1 POU1F1 HESX1 GLI2
4 DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001228 9.65 PROP1 POU1F1 OTX2 LHX4 GLI2
5 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.63 PROP1 POU1F1 OTX2 HESX1 GLI2 FOXA2
6 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.5 PROP1 POU1F1 OTX2 LHX4 HESX1 GLI2
7 sequence-specific DNA binding GO:0043565 9.17 PROP1 POU1F1 OTX2 LHX4 HESX1 GLI2

Sources for Combined Pituitary Hormone Deficiencies, Genetic Forms

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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