MCID: CMB062
MIFTS: 36

Combined Pituitary Hormone Deficiencies, Genetic Forms

Categories: Rare diseases, Genetic diseases, Endocrine 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 49 55
Multiple Pituitary Hormone Deficiencies, Genetic Forms 49 55
Familial Congenital Hypopituitarism 49 55

Characteristics:

Orphanet epidemiological data:

55
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, and has symptoms including hypogonadotrophic hypogonadism, amenorrhea and depressed nasal ridge. 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 Increased Nanog expression and Increased Nanog expression

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:

55 31 (show all 39)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypogonadotrophic hypogonadism 55 31 frequent (33%) Frequent (79-30%) HP:0000044
2 amenorrhea 55 31 frequent (33%) Frequent (79-30%) HP:0000141
3 depressed nasal ridge 55 31 frequent (33%) Frequent (79-30%) HP:0000457
4 infertility 55 31 frequent (33%) Frequent (79-30%) HP:0000789
5 osteopenia 55 31 frequent (33%) Frequent (79-30%) HP:0000938
6 hypoglycemia 55 31 frequent (33%) Frequent (79-30%) HP:0001943
7 hypotension 55 31 frequent (33%) Frequent (79-30%) HP:0002615
8 decreased circulating acth level 55 31 frequent (33%) Frequent (79-30%) HP:0002920
9 pituitary hypothyroidism 55 31 frequent (33%) Frequent (79-30%) HP:0008245
10 decreased testicular size 55 31 frequent (33%) Frequent (79-30%) HP:0008734
11 abnormality of secondary sexual hair 55 31 frequent (33%) Frequent (79-30%) HP:0009888
12 aplasia/hypoplasia of the breasts 55 31 frequent (33%) Frequent (79-30%) HP:0010311
13 anterior pituitary agenesis 55 31 frequent (33%) Frequent (79-30%) HP:0010626
14 anterior pituitary hypoplasia 55 31 frequent (33%) Frequent (79-30%) HP:0010627
15 fatigue 55 31 frequent (33%) Frequent (79-30%) HP:0012378
16 abnormal prolactin level 55 31 frequent (33%) Frequent (79-30%) HP:0040086
17 delayed puberty 55 31 occasional (7.5%) Occasional (29-5%) HP:0000823
18 pituitary dwarfism 55 31 occasional (7.5%) Occasional (29-5%) HP:0000839
19 constipation 55 31 occasional (7.5%) Occasional (29-5%) HP:0002019
20 delayed skeletal maturation 55 31 occasional (7.5%) Occasional (29-5%) HP:0002750
21 osteoporosis of vertebrae 55 31 occasional (7.5%) Occasional (29-5%) HP:0005625
22 absence of secondary sex characteristics 55 31 occasional (7.5%) Occasional (29-5%) HP:0008187
23 seizures 55 31 very rare (1%) Very rare (<4-1%) HP:0001250
24 agenesis of corpus callosum 55 31 very rare (1%) Very rare (<4-1%) HP:0001274
25 holoprosencephaly 55 31 very rare (1%) Very rare (<4-1%) HP:0001360
26 decreased cervical spine mobility 55 31 very rare (1%) Very rare (<4-1%) HP:0004637
27 median cleft lip and palate 55 31 very rare (1%) Very rare (<4-1%) HP:0008501
28 polydactyly 55 31 very rare (1%) Very rare (<4-1%) HP:0010442
29 severe global developmental delay 55 31 very rare (1%) Very rare (<4-1%) HP:0011344
30 ectopic posterior pituitary 55 31 very rare (1%) Very rare (<4-1%) HP:0011755
31 ectopic anterior pituitary gland 55 31 very rare (1%) Very rare (<4-1%) HP:0012731
32 septo-optic dysplasia 55 31 very rare (1%) Very rare (<4-1%) HP:0100842
33 hypopituitarism 55 Obligate (100%)
34 growth hormone deficiency 55 Frequent (79-30%)
35 growth delay 55 Frequent (79-30%)
36 abnormality of the eye 55 Very rare (<4-1%)
37 optic nerve hypoplasia 55 Very rare (<4-1%)
38 absent septum pellucidum 55 Very rare (<4-1%)
39 abnormality of digit 55 Very rare (<4-1%)

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

25
# 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:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.8 OTX2 POU1F1 PROP1 GLI2 HESX1 LHX4
2 craniofacial MP:0005382 9.67 OTX2 POU1F1 GLI2 HESX1
3 mortality/aging MP:0010768 9.63 OTX2 POU1F1 PROP1 GLI2 HESX1 LHX4
4 hearing/vestibular/ear MP:0005377 9.56 OTX2 POU1F1 GLI2 HESX1
5 nervous system MP:0003631 9.43 OTX2 POU1F1 PROP1 GLI2 HESX1 LHX4
6 respiratory system MP:0005388 9.02 OTX2 PROP1 GLI2 HESX1 LHX4

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:

38
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

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.46C> T (p.Arg16Ter) single nucleotide variant Likely pathogenic rs140016178 GRCh37 Chromosome 5, 177422889: 177422889
3 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 9.8 GLI2 HESX1 LHX4 OTX2 POU1F1 PROP1
2 negative regulation of transcription by RNA polymerase II GO:0000122 9.73 GLI2 HESX1 POU1F1 PROP1
3 positive regulation of transcription, DNA-templated GO:0045893 9.67 GLI2 OTX2 POU1F1
4 negative regulation of apoptotic process GO:0043066 9.65 GLI2 LHX4 PROP1
5 positive regulation of transcription by RNA polymerase II GO:0045944 9.65 GLI2 LHX4 OTX2 POU1F1 PROP1
6 animal organ morphogenesis GO:0009887 9.51 LHX4 PROP1
7 dorsal/ventral pattern formation GO:0009953 9.46 GLI2 PROP1
8 regulation of smoothened signaling pathway GO:0008589 9.4 GLI2 OTX2
9 adenohypophysis development GO:0021984 9.37 POU1F1 PROP1
10 transcription by RNA polymerase II GO:0006366 9.35 GLI2 LHX4 OTX2 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 chromatin binding GO:0003682 9.56 GLI2 HESX1 POU1F1 PROP1
2 transcriptional activator activity, RNA polymerase II proximal promoter sequence-specific DNA binding GO:0001077 9.5 GLI2 OTX2 POU1F1
3 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.46 GLI2 HESX1 OTX2 POU1F1
4 DNA binding GO:0003677 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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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