MCID: HYP488
MIFTS: 30

Hypothyroidism Due to Deficient Transcription Factors Involved in Pituitary Development or Function

Categories: Immune diseases, Rare diseases, Endocrine diseases

Aliases & Classifications for Hypothyroidism Due to Deficient Transcription Factors Involved in...

MalaCards integrated aliases for Hypothyroidism Due to Deficient Transcription Factors Involved in Pituitary Development or Function:

Name: Hypothyroidism Due to Deficient Transcription Factors Involved in Pituitary Development or Function 55

Characteristics:

Orphanet epidemiological data:

55

Classifications:

Orphanet: 55  
Rare endocrine diseases


Summaries for Hypothyroidism Due to Deficient Transcription Factors Involved in...

MalaCards based summary : Hypothyroidism Due to Deficient Transcription Factors Involved in Pituitary Development or Function is related to hypothyroidism, congenital, nongoitrous, 4 and pituitary tumors, and has symptoms including oral cleft, large fontanelles and coarse facial features. An important gene associated with Hypothyroidism Due to Deficient Transcription Factors Involved in Pituitary Development or Function is PROP1 (PROP Paired-Like Homeobox 1). Affiliated tissues include pituitary and hypothalamus, and related phenotypes are endocrine/exocrine gland and mortality/aging

Related Diseases for Hypothyroidism Due to Deficient Transcription Factors Involved in...

Diseases in the Hypothyroidism family:

Congenital Hypothyroidism Central Congenital Hypothyroidism
Hypothyroidism Due to Iodide Transport Defect Hypothyroidism Due to Deficient Transcription Factors Involved in Pituitary Development or Function
Congenital Hypothyroidism Due to Maternal Intake of Antithyroid Drugs Congenital Hypothyroidism Due to Transplacental Passage of Maternal Tsh-Binding Inhibitory Antibodies

Diseases related to Hypothyroidism Due to Deficient Transcription Factors Involved in Pituitary Development or Function via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 17)
# Related Disease Score Top Affiliating Genes
1 hypothyroidism, congenital, nongoitrous, 4 9.9 POU1F1 PROP1
2 pituitary tumors 9.9 POU1F1 PROP1
3 isolated growth hormone deficiency, type ii 9.9 HESX1 POU1F1
4 growth hormone deficiency 9.8 HESX1 PROP1
5 neonatal thyrotoxicosis 9.7 LHX3 PROP1
6 craniopharyngioma 9.6 POU1F1 PROP1
7 pituitary stalk interruption syndrome 9.5 HESX1 LHX4 POU1F1
8 kallmann syndrome 9.4 HESX1 LHX3 PROP1
9 combined pituitary hormone deficiencies, genetic forms 9.2 HESX1 LHX4 POU1F1 PROP1
10 pituitary gland disease 9.0 HESX1 LHX3 POU1F1 PROP1
11 pituitary hypoplasia 8.9 HESX1 LHX3 LHX4 POU1F1
12 combined pituitary hormone deficiency 8.6 HESX1 LHX3 LHX4 POU1F1 PROP1
13 septooptic dysplasia 8.6 HESX1 LHX3 LHX4 POU1F1 PROP1
14 isolated growth hormone deficiency 8.6 HESX1 LHX3 LHX4 POU1F1 PROP1
15 pituitary hormone deficiency, combined, 2 8.6 HESX1 LHX3 LHX4 POU1F1 PROP1
16 borjeson-forssman-lehmann syndrome 8.6 HESX1 LHX3 LHX4 POU1F1 PROP1
17 hypopituitarism 8.6 HESX1 LHX3 LHX4 POU1F1 PROP1

Graphical network of the top 20 diseases related to Hypothyroidism Due to Deficient Transcription Factors Involved in Pituitary Development or Function:



Diseases related to Hypothyroidism Due to Deficient Transcription Factors Involved in Pituitary Development or Function

Symptoms & Phenotypes for Hypothyroidism Due to Deficient Transcription Factors Involved in...

Human phenotypes related to Hypothyroidism Due to Deficient Transcription Factors Involved in Pituitary Development or Function:

55 31 (show all 19)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 oral cleft 55 31 frequent (33%) Frequent (79-30%) HP:0000202
2 large fontanelles 55 31 hallmark (90%) Very frequent (99-80%) HP:0000239
3 coarse facial features 55 31 hallmark (90%) Very frequent (99-80%) HP:0000280
4 abnormality of the hypothalamus-pituitary axis 55 31 frequent (33%) Frequent (79-30%) HP:0000864
5 jaundice 55 31 hallmark (90%) Very frequent (99-80%) HP:0000952
6 intellectual disability 55 31 frequent (33%) Frequent (79-30%) HP:0001249
7 muscular hypotonia 55 31 hallmark (90%) Very frequent (99-80%) HP:0001252
8 global developmental delay 55 31 frequent (33%) Frequent (79-30%) HP:0001263
9 umbilical hernia 55 31 hallmark (90%) Very frequent (99-80%) HP:0001537
10 constipation 55 31 hallmark (90%) Very frequent (99-80%) HP:0002019
11 sleep disturbance 55 31 hallmark (90%) Very frequent (99-80%) HP:0002360
12 abdominal distention 55 31 hallmark (90%) Very frequent (99-80%) HP:0003270
13 short stature 55 31 frequent (33%) Frequent (79-30%) HP:0004322
14 central hypothyroidism 55 31 frequent (33%) Frequent (79-30%) HP:0011787
15 feeding difficulties 55 31 hallmark (90%) Very frequent (99-80%) HP:0011968
16 fatigue 55 31 hallmark (90%) Very frequent (99-80%) HP:0012378
17 septo-optic dysplasia 55 31 frequent (33%) Frequent (79-30%) HP:0100842
18 abnormality of the face 55 Very frequent (99-80%)
19 hypothyroidism 55 Very frequent (99-80%)

MGI Mouse Phenotypes related to Hypothyroidism Due to Deficient Transcription Factors Involved in Pituitary Development or Function:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.65 HESX1 LHX3 LHX4 POU1F1 PROP1
2 mortality/aging MP:0010768 9.35 HESX1 LHX3 LHX4 POU1F1 PROP1
3 hearing/vestibular/ear MP:0005377 9.33 HESX1 LHX3 POU1F1
4 nervous system MP:0003631 9.02 POU1F1 PROP1 HESX1 LHX3 LHX4

Drugs & Therapeutics for Hypothyroidism Due to Deficient Transcription Factors Involved in...

Search Clinical Trials , NIH Clinical Center for Hypothyroidism Due to Deficient Transcription Factors Involved in Pituitary Development or Function

Genetic Tests for Hypothyroidism Due to Deficient Transcription Factors Involved in...

Anatomical Context for Hypothyroidism Due to Deficient Transcription Factors Involved in...

MalaCards organs/tissues related to Hypothyroidism Due to Deficient Transcription Factors Involved in Pituitary Development or Function:

38
Pituitary, Hypothalamus

Publications for Hypothyroidism Due to Deficient Transcription Factors Involved in...

Variations for Hypothyroidism Due to Deficient Transcription Factors Involved in...

Expression for Hypothyroidism Due to Deficient Transcription Factors Involved in...

Search GEO for disease gene expression data for Hypothyroidism Due to Deficient Transcription Factors Involved in Pituitary Development or Function.

Pathways for Hypothyroidism Due to Deficient Transcription Factors Involved in...

GO Terms for Hypothyroidism Due to Deficient Transcription Factors Involved in...

Cellular components related to Hypothyroidism Due to Deficient Transcription Factors Involved in Pituitary Development or Function according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transcription factor complex GO:0005667 8.8 LHX3 POU1F1 PROP1

Biological processes related to Hypothyroidism Due to Deficient Transcription Factors Involved in Pituitary Development or Function according to GeneCards Suite gene sharing:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 transcription, DNA-templated GO:0006351 9.84 HESX1 LHX3 LHX4 POU1F1
2 regulation of transcription, DNA-templated GO:0006355 9.83 HESX1 LHX3 LHX4 POU1F1 PROP1
3 positive regulation of transcription by RNA polymerase II GO:0045944 9.76 LHX3 LHX4 POU1F1 PROP1
4 negative regulation of transcription by RNA polymerase II GO:0000122 9.7 HESX1 POU1F1 PROP1
5 negative regulation of apoptotic process GO:0043066 9.69 LHX3 LHX4 PROP1
6 transcription by RNA polymerase II GO:0006366 9.67 LHX3 LHX4 POU1F1 PROP1
7 placenta development GO:0001890 9.49 LHX3 LHX4
8 dorsal/ventral pattern formation GO:0009953 9.48 LHX3 PROP1
9 animal organ morphogenesis GO:0009887 9.43 LHX3 LHX4 PROP1
10 motor neuron axon guidance GO:0008045 9.4 LHX3 LHX4
11 adenohypophysis development GO:0021984 9.32 POU1F1 PROP1
12 somatotropin secreting cell differentiation GO:0060126 9.16 POU1F1 PROP1
13 medial motor column neuron differentiation GO:0021526 8.96 LHX3 LHX4
14 pituitary gland development GO:0021983 8.8 HESX1 LHX3 POU1F1

Molecular functions related to Hypothyroidism Due to Deficient Transcription Factors Involved in Pituitary Development or Function according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 chromatin binding GO:0003682 9.5 HESX1 POU1F1 PROP1
2 protein C-terminus binding GO:0008022 9.4 HESX1 PROP1
3 transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific DNA binding GO:0001228 9.37 LHX3 LHX4
4 DNA binding GO:0003677 9.35 HESX1 LHX3 LHX4 POU1F1 PROP1
5 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.33 HESX1 LHX3 POU1F1
6 RNA polymerase II transcription factor binding GO:0001085 9.26 LHX3 POU1F1
7 sequence-specific DNA binding GO:0043565 9.02 HESX1 LHX3 LHX4 POU1F1 PROP1

Sources for Hypothyroidism Due to Deficient Transcription Factors Involved in...

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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