MCID: CMB062
MIFTS: 32

Combined Pituitary Hormone Deficiencies, Genetic Forms

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



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, congenital, nongoitrous 4 and kowarski syndrome, 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 and eye, 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 hypogonadotrophic hypogonadism 56 32 frequent (33%) Frequent (79-30%) HP:0000044
2 amenorrhea 56 32 frequent (33%) Frequent (79-30%) HP:0000141
3 depressed nasal ridge 56 32 frequent (33%) Frequent (79-30%) HP:0000457
4 infertility 56 32 frequent (33%) Frequent (79-30%) HP:0000789
5 osteopenia 56 32 frequent (33%) Frequent (79-30%) HP:0000938
6 hypoglycemia 56 32 frequent (33%) Frequent (79-30%) HP:0001943
7 hypotension 56 32 frequent (33%) Frequent (79-30%) HP:0002615
8 decreased circulating acth level 56 32 frequent (33%) Frequent (79-30%) HP:0002920
9 pituitary hypothyroidism 56 32 frequent (33%) Frequent (79-30%) HP:0008245
10 decreased testicular size 56 32 frequent (33%) Frequent (79-30%) HP:0008734
11 abnormality of secondary sexual hair 56 32 frequent (33%) Frequent (79-30%) HP:0009888
12 aplasia/hypoplasia of the breasts 56 32 frequent (33%) Frequent (79-30%) HP:0010311
13 anterior pituitary agenesis 56 32 frequent (33%) Frequent (79-30%) HP:0010626
14 anterior pituitary hypoplasia 56 32 frequent (33%) Frequent (79-30%) HP:0010627
15 fatigue 56 32 frequent (33%) Frequent (79-30%) HP:0012378
16 abnormal prolactin level 56 32 frequent (33%) Frequent (79-30%) HP:0040086
17 delayed puberty 56 32 occasional (7.5%) Occasional (29-5%) HP:0000823
18 pituitary dwarfism 56 32 occasional (7.5%) Occasional (29-5%) HP:0000839
19 constipation 56 32 occasional (7.5%) Occasional (29-5%) HP:0002019
20 delayed skeletal maturation 56 32 occasional (7.5%) Occasional (29-5%) HP:0002750
21 osteoporosis of vertebrae 56 32 occasional (7.5%) Occasional (29-5%) HP:0005625
22 absence of secondary sex characteristics 56 32 occasional (7.5%) Occasional (29-5%) HP:0008187
23 seizures 56 32 very rare (1%) Very rare (<4-1%) HP:0001250
24 agenesis of corpus callosum 56 32 very rare (1%) Very rare (<4-1%) HP:0001274
25 holoprosencephaly 56 32 very rare (1%) Very rare (<4-1%) HP:0001360
26 decreased cervical spine mobility 56 32 very rare (1%) Very rare (<4-1%) HP:0004637
27 median cleft lip and palate 56 32 very rare (1%) Very rare (<4-1%) HP:0008501
28 polydactyly 56 32 very rare (1%) Very rare (<4-1%) HP:0010442
29 severe global developmental delay 56 32 very rare (1%) Very rare (<4-1%) HP:0011344
30 ectopic posterior pituitary 56 32 very rare (1%) Very rare (<4-1%) HP:0011755
31 ectopic anterior pituitary gland 56 32 very rare (1%) Very rare (<4-1%) HP:0012731
32 septo-optic dysplasia 56 32 very rare (1%) Very rare (<4-1%) HP:0100842
33 hypopituitarism 56 Obligate (100%)
34 growth hormone deficiency 56 Frequent (79-30%)
35 growth delay 56 Frequent (79-30%)
36 abnormality of the eye 56 Very rare (<4-1%)
37 optic nerve hypoplasia 56 Very rare (<4-1%)
38 absent septum pellucidum 56 Very rare (<4-1%)
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 HESX1 OTX2 POU1F1 GLI2
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 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:

39
Pituitary, Eye

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 regulation of transcription, DNA-templated GO:0006355 9.8 GLI2 HESX1 LHX4 OTX2 POU1F1 PROP1
2 negative regulation of transcription from RNA polymerase II promoter 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 from RNA polymerase II promoter GO:0045944 9.56 GLI2 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 from RNA polymerase II promoter GO:0006366 9.26 GLI2 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:

id 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 core promoter proximal region sequence-specific binding GO:0001077 9.5 GLI2 OTX2 POU1F1
3 RNA polymerase II core promoter proximal region 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
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 HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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