MCID: CMB062
MIFTS: 35

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 54 60
Multiple Pituitary Hormone Deficiencies, Genetic Forms 54 60
Familial Congenital Hypopituitarism 54 60

Characteristics:

Orphanet epidemiological data:

60
combined pituitary hormone deficiencies, genetic forms
Inheritance: Autosomal dominant,Autosomal recessive,X-linked recessive;

Classifications:



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 hypopituitarism and hypothyroidism, congenital, nongoitrous, 4. 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, breast and eye, and related phenotypes are osteopenia and hypotension

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:

60 33 (show all 39)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 osteopenia 60 33 frequent (33%) Frequent (79-30%) HP:0000938
2 hypotension 60 33 frequent (33%) Frequent (79-30%) HP:0002615
3 fatigue 60 33 frequent (33%) Frequent (79-30%) HP:0012378
4 hypoglycemia 60 33 frequent (33%) Frequent (79-30%) HP:0001943
5 hypogonadotrophic hypogonadism 60 33 frequent (33%) Frequent (79-30%) HP:0000044
6 depressed nasal ridge 60 33 frequent (33%) Frequent (79-30%) HP:0000457
7 decreased testicular size 60 33 frequent (33%) Frequent (79-30%) HP:0008734
8 infertility 60 33 frequent (33%) Frequent (79-30%) HP:0000789
9 pituitary hypothyroidism 60 33 frequent (33%) Frequent (79-30%) HP:0008245
10 decreased circulating acth level 60 33 frequent (33%) Frequent (79-30%) HP:0002920
11 abnormality of secondary sexual hair 60 33 frequent (33%) Frequent (79-30%) HP:0009888
12 aplasia/hypoplasia of the breasts 60 33 frequent (33%) Frequent (79-30%) HP:0010311
13 amenorrhea 60 33 frequent (33%) Frequent (79-30%) HP:0000141
14 abnormal prolactin level 60 33 frequent (33%) Frequent (79-30%) HP:0040086
15 anterior pituitary agenesis 60 33 frequent (33%) Frequent (79-30%) HP:0010626
16 anterior pituitary hypoplasia 60 33 frequent (33%) Frequent (79-30%) HP:0010627
17 constipation 60 33 occasional (7.5%) Occasional (29-5%) HP:0002019
18 delayed skeletal maturation 60 33 occasional (7.5%) Occasional (29-5%) HP:0002750
19 delayed puberty 60 33 occasional (7.5%) Occasional (29-5%) HP:0000823
20 absence of secondary sex characteristics 60 33 occasional (7.5%) Occasional (29-5%) HP:0008187
21 osteoporosis of vertebrae 60 33 occasional (7.5%) Occasional (29-5%) HP:0005625
22 pituitary dwarfism 60 33 occasional (7.5%) Occasional (29-5%) HP:0000839
23 agenesis of corpus callosum 60 33 very rare (1%) Very rare (<4-1%) HP:0001274
24 seizures 60 33 very rare (1%) Very rare (<4-1%) HP:0001250
25 severe global developmental delay 60 33 very rare (1%) Very rare (<4-1%) HP:0011344
26 holoprosencephaly 60 33 very rare (1%) Very rare (<4-1%) HP:0001360
27 median cleft lip and palate 60 33 very rare (1%) Very rare (<4-1%) HP:0008501
28 septo-optic dysplasia 60 33 very rare (1%) Very rare (<4-1%) HP:0100842
29 polydactyly 60 33 very rare (1%) Very rare (<4-1%) HP:0010442
30 decreased cervical spine mobility 60 33 very rare (1%) Very rare (<4-1%) HP:0004637
31 ectopic posterior pituitary 60 33 very rare (1%) Very rare (<4-1%) HP:0011755
32 ectopic anterior pituitary gland 60 33 very rare (1%) Very rare (<4-1%) HP:0012731
33 abnormality of the eye 60 Very rare (<4-1%)
34 growth delay 60 Frequent (79-30%)
35 optic nerve hypoplasia 60 Very rare (<4-1%)
36 absent septum pellucidum 60 Very rare (<4-1%)
37 growth hormone deficiency 60 Frequent (79-30%)
38 hypopituitarism 60 Obligate (100%)
39 abnormality of digit 60 Very rare (<4-1%)

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

27
# 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:

47
# 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:

42
Pituitary, Breast, Eye

Publications for Combined Pituitary Hormone Deficiencies, Genetic Forms

Articles related to Combined Pituitary Hormone Deficiencies, Genetic Forms:

# Title Authors Year
1
Cancerous leptomeningitis and familial congenital hypopituitarism. ( 26886902 )
2016
2
Familial congenital hypopituitarism with central diabetes insipidus. ( 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 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.301_302delAG (p.Leu102Cysfs) deletion Pathogenic rs193922688 GRCh38 Chromosome 5, 177994146: 177994147
3 PROP1 NM_006261.4(PROP1): c.46C> T (p.Arg16Ter) single nucleotide variant Likely pathogenic rs140016178 GRCh37 Chromosome 5, 177422889: 177422889
4 PROP1 NM_006261.4(PROP1): c.46C> T (p.Arg16Ter) single nucleotide variant Likely pathogenic rs140016178 GRCh38 Chromosome 5, 177995888: 177995888
5 POU1F1 NM_000306.3(POU1F1): c.143-4A> T single nucleotide variant Benign rs35893626 GRCh37 Chromosome 3, 87322572: 87322572
6 POU1F1 NM_000306.3(POU1F1): c.143-4A> T single nucleotide variant Benign rs35893626 GRCh38 Chromosome 3, 87273422: 87273422
7 PROP1 NM_006261.4(PROP1): c.174G> A (p.Pro58=) single nucleotide variant Benign/Likely benign rs2233784 GRCh37 Chromosome 5, 177421275: 177421275
8 PROP1 NM_006261.4(PROP1): c.174G> A (p.Pro58=) single nucleotide variant Benign/Likely benign rs2233784 GRCh38 Chromosome 5, 177994274: 177994274
9 PROP1 NM_006261.4(PROP1): c.359G> A (p.Arg120His) single nucleotide variant Likely pathogenic rs769171020 GRCh38 Chromosome 5, 177993031: 177993031
10 PROP1 NM_006261.4(PROP1): c.359G> A (p.Arg120His) single nucleotide variant Likely pathogenic rs769171020 GRCh37 Chromosome 5, 177420032: 177420032

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 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:

# 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)
# Name GO ID Score Top Affiliating Genes
1 regulation of transcription, DNA-templated GO:0006355 9.77 HESX1 LHX4 OTX2 POU1F1 PROP1
2 negative regulation of transcription by RNA polymerase II GO:0000122 9.69 GLI2 POU1F1 PROP1
3 positive regulation of transcription, DNA-templated GO:0045893 9.65 GLI2 OTX2 POU1F1
4 positive regulation of transcription by RNA polymerase II GO:0045944 9.65 GLI2 LHX4 OTX2 POU1F1 PROP1
5 negative regulation of apoptotic process GO:0043066 9.63 GLI2 LHX4 PROP1
6 animal organ morphogenesis GO:0009887 9.49 LHX4 PROP1
7 dorsal/ventral pattern formation GO:0009953 9.43 GLI2 PROP1
8 regulation of smoothened signaling pathway GO:0008589 9.4 GLI2 OTX2
9 adenohypophysis development GO:0021984 9.32 POU1F1 PROP1
10 somatotropin secreting cell differentiation GO:0060126 9.16 POU1F1 PROP1
11 pituitary gland development GO:0021983 8.8 GLI2 HESX1 POU1F1
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 GLI2 HESX1 LHX4 OTX2 POU1F1 PROP1
2 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.62 GLI2 HESX1 OTX2 POU1F1
3 chromatin binding GO:0003682 9.56 GLI2 HESX1 POU1F1 PROP1
4 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.43 GLI2 HESX1 LHX4 OTX2 POU1F1 PROP1
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
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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