MCID: CMB062
MIFTS: 29

Combined Pituitary Hormone Deficiencies, Genetic Forms malady

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

Aliases & Classifications for Combined Pituitary Hormone Deficiencies, Genetic Forms

Aliases & Descriptions for Combined Pituitary Hormone Deficiencies, Genetic Forms:

Name: Combined Pituitary Hormone Deficiencies, Genetic Forms 50 56
Multiple Pituitary Hormone Deficiencies, Genetic Forms 50 56
Familial Congenital Hypopituitarism 50 56

Characteristics:

Orphanet epidemiological data:

56
combined pituitary hormone deficiencies, genetic forms
Inheritance: Autosomal dominant,Autosomal recessive,X-linked recessive;

Classifications:



External Ids:

Orphanet 56 ORPHA95494
ICD10 via Orphanet 34 E23.0

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 pagod syndrome and extragonadal germ cell cancer, and has symptoms including constipation, fatigue and seizures. 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 Increased Nanog expression and endocrine/exocrine gland

Related Diseases for Combined Pituitary Hormone Deficiencies, Genetic Forms

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:

56 32 (show all 39)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 constipation 56 32 Occasional (29-5%) HP:0002019
2 fatigue 56 32 Frequent (79-30%) HP:0012378
3 seizures 56 32 Very rare (<4-1%) HP:0001250
4 agenesis of corpus callosum 56 32 Very rare (<4-1%) HP:0001274
5 osteopenia 56 32 Frequent (79-30%) HP:0000938
6 hypotension 56 32 Frequent (79-30%) HP:0002615
7 delayed skeletal maturation 56 32 Occasional (29-5%) HP:0002750
8 delayed puberty 56 32 Occasional (29-5%) HP:0000823
9 hypoglycemia 56 32 Frequent (79-30%) HP:0001943
10 severe global developmental delay 56 32 Very rare (<4-1%) HP:0011344
11 hypogonadotrophic hypogonadism 56 32 Frequent (79-30%) HP:0000044
12 depressed nasal ridge 56 32 Frequent (79-30%) HP:0000457
13 absence of secondary sex characteristics 56 32 Occasional (29-5%) HP:0008187
14 decreased testicular size 56 32 Frequent (79-30%) HP:0008734
15 holoprosencephaly 56 32 Very rare (<4-1%) HP:0001360
16 infertility 56 32 Frequent (79-30%) HP:0000789
17 median cleft lip and palate 56 32 Very rare (<4-1%) HP:0008501
18 pituitary hypothyroidism 56 32 Frequent (79-30%) HP:0008245
19 decreased circulating acth level 56 32 Frequent (79-30%) HP:0002920
20 abnormality of secondary sexual hair 56 32 Frequent (79-30%) HP:0009888
21 osteoporosis of vertebrae 56 32 Occasional (29-5%) HP:0005625
22 aplasia/hypoplasia of the breasts 56 32 Frequent (79-30%) HP:0010311
23 septo-optic dysplasia 56 32 Very rare (<4-1%) HP:0100842
24 amenorrhea 56 32 Frequent (79-30%) HP:0000141
25 abnormal prolactin level 56 32 Frequent (79-30%) HP:0040086
26 anterior pituitary agenesis 56 32 Frequent (79-30%) HP:0010626
27 anterior pituitary hypoplasia 56 32 Frequent (79-30%) HP:0010627
28 polydactyly 56 32 Very rare (<4-1%) HP:0010442
29 pituitary dwarfism 56 32 Occasional (29-5%) HP:0000839
30 ectopic posterior pituitary 56 32 Very rare (<4-1%) HP:0011755
31 ectopic anterior pituitary gland 56 32 Very rare (<4-1%) HP:0012731
32 decreased cervical spine mobility 56 32 Very rare (<4-1%) HP:0004637
33 abnormality of the eye 56 Very rare (<4-1%)
34 growth delay 56 Frequent (79-30%)
35 optic nerve hypoplasia 56 Very rare (<4-1%)
36 absent septum pellucidum 56 Very rare (<4-1%)
37 growth hormone deficiency 56 Frequent (79-30%)
38 hypopituitarism 56 Obligate (100%)
39 abnormality of digit 56 Very rare (<4-1%)

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

26
id 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:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.8 GLI2 HESX1 LHX4 OTX2 POU1F1 PROP1
2 craniofacial MP:0005382 9.67 GLI2 HESX1 OTX2 POU1F1
3 mortality/aging MP:0010768 9.63 GLI2 HESX1 LHX4 OTX2 POU1F1 PROP1
4 hearing/vestibular/ear MP:0005377 9.56 GLI2 HESX1 OTX2 POU1F1
5 nervous system MP:0003631 9.43 GLI2 HESX1 LHX4 OTX2 POU1F1 PROP1
6 respiratory system MP:0005388 9.02 PROP1 GLI2 HESX1 LHX4 OTX2

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:

39
Pituitary, Eye, Breast

Publications for Combined Pituitary Hormone Deficiencies, Genetic Forms

Variations for Combined Pituitary Hormone Deficiencies, Genetic Forms

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

6
id Gene Variation Type Significance SNP ID Assembly Location
1 PROP1 NM_006261.4(PROP1): c.301_302delAG (p.Leu102Cysfs) deletion Pathogenic rs193922688 GRCh37 Chromosome 5, 177421147: 177421148
2 PROP1 NM_006261.4(PROP1): c.359G> A (p.Arg120His) single nucleotide variant Likely pathogenic rs769171020 GRCh38 Chromosome 5, 177993031: 177993031
3 PROP1 NM_006261.4(PROP1): c.46C> T (p.Arg16Ter) single nucleotide variant Likely pathogenic rs140016178 GRCh37 Chromosome 5, 177422889: 177422889

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:

id Super pathways Score Top Affiliating Genes
1 10.1 GLI2 OTX2

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:

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

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

(show all 12)
id Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription from RNA polymerase II promoter GO:0045944 9.73 GLI2 OTX2 POU1F1 PROP1
2 positive regulation of transcription, DNA-templated GO:0045893 9.67 GLI2 OTX2 POU1F1
3 negative regulation of transcription from RNA polymerase II promoter GO:0000122 9.67 GLI2 HESX1 POU1F1 PROP1
4 negative regulation of apoptotic process GO:0043066 9.65 GLI2 LHX4 PROP1
5 regulation of transcription, DNA-templated GO:0006355 9.63 GLI2 HESX1 LHX4 OTX2 POU1F1 PROP1
6 transcription from RNA polymerase II promoter GO:0006366 9.62 GLI2 OTX2 POU1F1 PROP1
7 animal organ morphogenesis GO:0009887 9.51 LHX4 PROP1
8 dorsal/ventral pattern formation GO:0009953 9.46 GLI2 PROP1
9 regulation of smoothened signaling pathway GO:0008589 9.4 GLI2 OTX2
10 adenohypophysis development GO:0021984 9.26 POU1F1 PROP1
11 somatotropin secreting cell differentiation GO:0060126 8.96 POU1F1 PROP1
12 pituitary gland development GO:0021983 8.8 GLI2 HESX1 POU1F1

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

id Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 9.63 GLI2 HESX1 LHX4 OTX2 POU1F1 PROP1
2 chromatin binding GO:0003682 9.56 GLI2 HESX1 POU1F1 PROP1
3 transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding GO:0001077 9.5 GLI2 OTX2 POU1F1
4 RNA polymerase II core promoter proximal region sequence-specific DNA binding GO:0000978 9.26 GLI2 HESX1 OTX2 POU1F1
5 sequence-specific DNA binding GO:0043565 9.1 GLI2 HESX1 LHX4 OTX2 POU1F1 PROP1

Sources for Combined Pituitary Hormone Deficiencies, Genetic Forms

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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