MCID: CMB062
MIFTS: 33

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 53 59
Multiple Pituitary Hormone Deficiencies, Genetic Forms 53 59
Familial Congenital Hypopituitarism 53 59

Characteristics:

Orphanet epidemiological data:

59
combined pituitary hormone deficiencies, genetic forms
Inheritance: Autosomal dominant,Autosomal recessive,X-linked recessive;

Classifications:



External Ids:

ICD10 via Orphanet 34 E23.0
Orphanet 59 ORPHA95494

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 hypothyroidism and hypopituitarism. An important gene associated with Combined Pituitary Hormone Deficiencies, Genetic Forms is PROP1 (PROP Paired-Like Homeobox 1), and among its related pathways/superpathways is Dopaminergic Neurogenesis. Affiliated tissues include pituitary, eye and breast, and related phenotypes are osteopenia and hypotension

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:

(show all 24)
# Related Disease Score Top Affiliating Genes
1 hypothyroidism 29.2 PROP1 POU1F1 HESX1
2 hypopituitarism 27.9 PROP1 POU1F1 LHX4 HESX1 GLI2
3 hypothyroidism, congenital, nongoitrous, 4 10.0 PROP1 POU1F1
4 non-acquired combined pituitary hormone deficiency 10.0
5 isolated growth hormone deficiency, type ii 9.9 POU1F1 HESX1
6 hypopituitarism, congenital, with central diabetes insipidus 9.8
7 diabetes mellitus 9.8
8 diabetes insipidus 9.8
9 hypoglycemia 9.8
10 pituitary tumors 9.8 PROP1 POU1F1
11 fryns microphthalmia syndrome 9.6 OTX2 HESX1
12 infratentorial cancer 9.6 OTX2 GLI2
13 isolated growth hormone deficiency 9.6 PROP1 POU1F1 HESX1
14 craniopharyngioma 9.6 PROP1 POU1F1
15 pituitary gland disease 9.6 PROP1 POU1F1 HESX1
16 agnathia-otocephaly complex 9.5 OTX2 GLI2
17 pituitary hormone deficiency, combined, 1 9.4 POU1F1 LHX4 HESX1
18 pituitary stalk interruption syndrome 9.4 POU1F1 LHX4 HESX1
19 hypothyroidism due to deficient transcription factors involved in pituitary development or function 9.1 PROP1 POU1F1 LHX4 HESX1
20 septooptic dysplasia 9.1 PROP1 POU1F1 LHX4 HESX1
21 pituitary hormone deficiency, combined, 2 9.0 PROP1 POU1F1 LHX4 HESX1
22 borjeson-forssman-lehmann syndrome 9.0 PROP1 POU1F1 LHX4 HESX1
23 pituitary hypoplasia 8.7 POU1F1 OTX2 LHX4 HESX1
24 combined pituitary hormone deficiency 8.3 PROP1 POU1F1 OTX2 LHX4 HESX1

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:

59 32 (show all 39)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 osteopenia 59 32 frequent (33%) Frequent (79-30%) HP:0000938
2 hypotension 59 32 frequent (33%) Frequent (79-30%) HP:0002615
3 fatigue 59 32 frequent (33%) Frequent (79-30%) HP:0012378
4 hypoglycemia 59 32 frequent (33%) Frequent (79-30%) HP:0001943
5 hypogonadotrophic hypogonadism 59 32 frequent (33%) Frequent (79-30%) HP:0000044
6 depressed nasal ridge 59 32 frequent (33%) Frequent (79-30%) HP:0000457
7 decreased testicular size 59 32 frequent (33%) Frequent (79-30%) HP:0008734
8 infertility 59 32 frequent (33%) Frequent (79-30%) HP:0000789
9 amenorrhea 59 32 frequent (33%) Frequent (79-30%) HP:0000141
10 pituitary hypothyroidism 59 32 frequent (33%) Frequent (79-30%) HP:0008245
11 decreased circulating acth level 59 32 frequent (33%) Frequent (79-30%) HP:0002920
12 abnormality of secondary sexual hair 59 32 frequent (33%) Frequent (79-30%) HP:0009888
13 aplasia/hypoplasia of the breasts 59 32 frequent (33%) Frequent (79-30%) HP:0010311
14 anterior pituitary hypoplasia 59 32 frequent (33%) Frequent (79-30%) HP:0010627
15 abnormal prolactin level 59 32 frequent (33%) Frequent (79-30%) HP:0040086
16 anterior pituitary agenesis 59 32 frequent (33%) Frequent (79-30%) HP:0010626
17 constipation 59 32 occasional (7.5%) Occasional (29-5%) HP:0002019
18 delayed skeletal maturation 59 32 occasional (7.5%) Occasional (29-5%) HP:0002750
19 delayed puberty 59 32 occasional (7.5%) Occasional (29-5%) HP:0000823
20 absence of secondary sex characteristics 59 32 occasional (7.5%) Occasional (29-5%) HP:0008187
21 osteoporosis of vertebrae 59 32 occasional (7.5%) Occasional (29-5%) HP:0005625
22 pituitary dwarfism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000839
23 agenesis of corpus callosum 59 32 very rare (1%) Very rare (<4-1%) HP:0001274
24 seizures 59 32 very rare (1%) Very rare (<4-1%) HP:0001250
25 severe global developmental delay 59 32 very rare (1%) Very rare (<4-1%) HP:0011344
26 holoprosencephaly 59 32 very rare (1%) Very rare (<4-1%) HP:0001360
27 median cleft lip and palate 59 32 very rare (1%) Very rare (<4-1%) HP:0008501
28 polydactyly 59 32 very rare (1%) Very rare (<4-1%) HP:0010442
29 septo-optic dysplasia 59 32 very rare (1%) Very rare (<4-1%) HP:0100842
30 decreased cervical spine mobility 59 32 very rare (1%) Very rare (<4-1%) HP:0004637
31 ectopic posterior pituitary 59 32 very rare (1%) Very rare (<4-1%) HP:0011755
32 ectopic anterior pituitary gland 59 32 very rare (1%) Very rare (<4-1%) HP:0012731
33 abnormality of the eye 59 Very rare (<4-1%)
34 growth delay 59 Frequent (79-30%)
35 optic nerve hypoplasia 59 Very rare (<4-1%)
36 absent septum pellucidum 59 Very rare (<4-1%)
37 growth hormone deficiency 59 Frequent (79-30%)
38 hypopituitarism 59 Obligate (100%)
39 abnormality of digit 59 Very rare (<4-1%)

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

26
# 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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.85 GLI2 HESX1 LHX4 OTX2 POU1F1 PROP1
2 growth/size/body region MP:0005378 9.72 GLI2 HESX1 OTX2 POU1F1 PROP1
3 craniofacial MP:0005382 9.71 GLI2 HESX1 OTX2 POU1F1
4 mortality/aging MP:0010768 9.63 GLI2 HESX1 LHX4 OTX2 POU1F1 PROP1
5 hearing/vestibular/ear MP:0005377 9.56 GLI2 HESX1 OTX2 POU1F1
6 nervous system MP:0003631 9.43 GLI2 HESX1 LHX4 OTX2 POU1F1 PROP1
7 respiratory system MP:0005388 9.02 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:

41
Pituitary, Eye, Breast

Publications for Combined Pituitary Hormone Deficiencies, Genetic Forms

Articles related to Combined Pituitary Hormone Deficiencies, Genetic Forms:

# Title Authors PMID Year
1
Cancerous leptomeningitis and familial congenital hypopituitarism. 38
26886902 2016
2
Familial congenital hypopituitarism with central diabetes insipidus. 38
8157716 1994

Variations for Combined Pituitary Hormone Deficiencies, Genetic Forms

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

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 PROP1 NM_006261.4(PROP1): c.297_298AG[2] (p.Leu102fs) short repeat Pathogenic rs193922688 5:177421147-177421148 5:177994146-177994147
2 PROP1 NM_006261.4(PROP1): c.46C> T (p.Arg16Ter) single nucleotide variant Likely pathogenic rs140016178 5:177422889-177422889 5:177995888-177995888
3 PROP1 NM_006261.4(PROP1): c.359G> A (p.Arg120His) single nucleotide variant Likely pathogenic rs769171020 5:177420032-177420032 5:177993031-177993031
4 PROP1 NM_006261.4(PROP1): c.174G> A (p.Pro58=) single nucleotide variant Benign/Likely benign rs2233784 5:177421275-177421275 5:177994274-177994274
5 POU1F1 NM_001122757.3(POU1F1): c.217A> T (p.Thr73Ser) single nucleotide variant Benign 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:

# Super pathways Score Top Affiliating Genes
1 10.1 OTX2 GLI2

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:

# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 9.1 PROP1 POU1F1 OTX2 LHX4 HESX1 GLI2

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 regulation of transcription, DNA-templated GO:0006355 9.77 PROP1 POU1F1 OTX2 LHX4 HESX1
2 negative regulation of transcription by RNA polymerase II GO:0000122 9.69 PROP1 POU1F1 GLI2
3 positive regulation of transcription, DNA-templated GO:0045893 9.65 POU1F1 OTX2 GLI2
4 positive regulation of transcription by RNA polymerase II GO:0045944 9.65 PROP1 POU1F1 OTX2 LHX4 GLI2
5 negative regulation of apoptotic process GO:0043066 9.63 PROP1 LHX4 GLI2
6 animal organ morphogenesis GO:0009887 9.49 PROP1 LHX4
7 dorsal/ventral pattern formation GO:0009953 9.43 PROP1 GLI2
8 adenohypophysis development GO:0021984 9.32 PROP1 POU1F1
9 somatotropin secreting cell differentiation GO:0060126 9.16 PROP1 POU1F1
10 regulation of smoothened signaling pathway GO:0008589 9.1 OTX2
11 pituitary gland development GO:0021983 8.8 POU1F1 HESX1 GLI2
12 transcription by RNA polymerase II GO:0006366 8.65 POU1F1

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

# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 9.63 PROP1 POU1F1 OTX2 LHX4 HESX1 GLI2
2 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.62 POU1F1 OTX2 HESX1 GLI2
3 chromatin binding GO:0003682 9.56 PROP1 POU1F1 HESX1 GLI2
4 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.43 PROP1 POU1F1 OTX2 LHX4 HESX1 GLI2
5 sequence-specific DNA binding GO:0043565 9.1 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 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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