MCID: CMB062
MIFTS: 36

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:



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, eye and breast, and related phenotypes are agenesis of corpus callosum and osteopenia

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:

59 32 (show all 39)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 agenesis of corpus callosum 59 32 very rare (1%) Very rare (<4-1%) HP:0001274
2 osteopenia 59 32 frequent (33%) Frequent (79-30%) HP:0000938
3 seizures 59 32 very rare (1%) Very rare (<4-1%) HP:0001250
4 constipation 59 32 occasional (7.5%) Occasional (29-5%) HP:0002019
5 hypotension 59 32 frequent (33%) Frequent (79-30%) HP:0002615
6 delayed skeletal maturation 59 32 occasional (7.5%) Occasional (29-5%) HP:0002750
7 delayed puberty 59 32 occasional (7.5%) Occasional (29-5%) HP:0000823
8 fatigue 59 32 frequent (33%) Frequent (79-30%) HP:0012378
9 hypoglycemia 59 32 frequent (33%) Frequent (79-30%) HP:0001943
10 severe global developmental delay 59 32 very rare (1%) Very rare (<4-1%) HP:0011344
11 hypogonadotrophic hypogonadism 59 32 frequent (33%) Frequent (79-30%) HP:0000044
12 depressed nasal ridge 59 32 frequent (33%) Frequent (79-30%) HP:0000457
13 absence of secondary sex characteristics 59 32 occasional (7.5%) Occasional (29-5%) HP:0008187
14 decreased testicular size 59 32 frequent (33%) Frequent (79-30%) HP:0008734
15 holoprosencephaly 59 32 very rare (1%) Very rare (<4-1%) HP:0001360
16 infertility 59 32 frequent (33%) Frequent (79-30%) HP:0000789
17 median cleft lip and palate 59 32 very rare (1%) Very rare (<4-1%) HP:0008501
18 pituitary hypothyroidism 59 32 frequent (33%) Frequent (79-30%) HP:0008245
19 decreased circulating acth level 59 32 frequent (33%) Frequent (79-30%) HP:0002920
20 abnormality of secondary sexual hair 59 32 frequent (33%) Frequent (79-30%) HP:0009888
21 osteoporosis of vertebrae 59 32 occasional (7.5%) Occasional (29-5%) HP:0005625
22 aplasia/hypoplasia of the breasts 59 32 frequent (33%) Frequent (79-30%) HP:0010311
23 amenorrhea 59 32 frequent (33%) Frequent (79-30%) HP:0000141
24 septo-optic dysplasia 59 32 very rare (1%) Very rare (<4-1%) HP:0100842
25 abnormal prolactin level 59 32 frequent (33%) Frequent (79-30%) HP:0040086
26 anterior pituitary agenesis 59 32 frequent (33%) Frequent (79-30%) HP:0010626
27 anterior pituitary hypoplasia 59 32 frequent (33%) Frequent (79-30%) HP:0010627
28 polydactyly 59 32 very rare (1%) Very rare (<4-1%) HP:0010442
29 pituitary dwarfism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000839
30 ectopic posterior pituitary 59 32 very rare (1%) Very rare (<4-1%) HP:0011755
31 ectopic anterior pituitary gland 59 32 very rare (1%) Very rare (<4-1%) HP:0012731
32 decreased cervical spine mobility 59 32 very rare (1%) Very rare (<4-1%) HP:0004637
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 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 transcription by RNA polymerase II GO:0006366 9.35 GLI2 LHX4 OTX2 POU1F1 PROP1
10 adenohypophysis development GO:0021984 9.32 POU1F1 PROP1
11 somatotropin secreting cell differentiation GO:0060126 9.16 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:

# 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 proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001077 9.54 GLI2 OTX2 POU1F1
5 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.43 GLI2 HESX1 LHX4 OTX2 POU1F1 PROP1
6 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 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
Content
Loading form....