MCID: HYP488
MIFTS: 30

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

Categories: Endocrine diseases, Rare diseases, Immune 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 59

Characteristics:

Orphanet epidemiological data:

59

Classifications:

Orphanet: 59  
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 central nervous system organ benign neoplasm. 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 oral cleft and large fontanelles

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 19)
# Related Disease Score Top Affiliating Genes
1 hypothyroidism, congenital, nongoitrous, 4 9.9 POU1F1 PROP1
2 central nervous system organ benign neoplasm 9.9 HESX1 PROP1
3 isolated growth hormone deficiency, type ii 9.7 HESX1 POU1F1
4 pituitary tumors 9.7 POU1F1 PROP1
5 neonatal thyrotoxicosis 9.6 LHX3 PROP1
6 craniopharyngioma 9.4 POU1F1 PROP1
7 pituitary stalk interruption syndrome 9.2 HESX1 LHX4 POU1F1
8 kallmann syndrome 9.0 HESX1 LHX3 PROP1
9 combined pituitary hormone deficiencies, genetic forms 8.8 HESX1 LHX4 POU1F1 PROP1
10 isolated growth hormone deficiency 8.7 HESX1 LHX4 POU1F1 PROP1
11 septooptic dysplasia 8.5 HESX1 LHX3 POU1F1 PROP1
12 pituitary gland disease 8.5 HESX1 LHX3 POU1F1 PROP1
13 hypothyroidism 8.4 HESX1 LHX3 POU1F1 PROP1
14 pituitary hormone deficiency, combined, 1 8.3 HESX1 LHX3 LHX4 POU1F1
15 pituitary hypoplasia 8.3 HESX1 LHX3 LHX4 POU1F1
16 combined pituitary hormone deficiency 7.8 HESX1 LHX3 LHX4 POU1F1 PROP1
17 pituitary hormone deficiency, combined, 2 7.8 HESX1 LHX3 LHX4 POU1F1 PROP1
18 borjeson-forssman-lehmann syndrome 7.8 HESX1 LHX3 LHX4 POU1F1 PROP1
19 hypopituitarism 7.8 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:

59 32 (show all 19)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 oral cleft 59 32 frequent (33%) Frequent (79-30%) HP:0000202
2 large fontanelles 59 32 hallmark (90%) Very frequent (99-80%) HP:0000239
3 coarse facial features 59 32 hallmark (90%) Very frequent (99-80%) HP:0000280
4 abnormality of the hypothalamus-pituitary axis 59 32 frequent (33%) Frequent (79-30%) HP:0000864
5 jaundice 59 32 hallmark (90%) Very frequent (99-80%) HP:0000952
6 intellectual disability 59 32 frequent (33%) Frequent (79-30%) HP:0001249
7 muscular hypotonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001252
8 global developmental delay 59 32 frequent (33%) Frequent (79-30%) HP:0001263
9 umbilical hernia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001537
10 constipation 59 32 hallmark (90%) Very frequent (99-80%) HP:0002019
11 sleep disturbance 59 32 hallmark (90%) Very frequent (99-80%) HP:0002360
12 abdominal distention 59 32 hallmark (90%) Very frequent (99-80%) HP:0003270
13 short stature 59 32 frequent (33%) Frequent (79-30%) HP:0004322
14 central hypothyroidism 59 32 frequent (33%) Frequent (79-30%) HP:0011787
15 feeding difficulties 59 32 hallmark (90%) Very frequent (99-80%) HP:0011968
16 fatigue 59 32 hallmark (90%) Very frequent (99-80%) HP:0012378
17 septo-optic dysplasia 59 32 frequent (33%) Frequent (79-30%) HP:0100842
18 abnormality of the face 59 Very frequent (99-80%)
19 hypothyroidism 59 Very frequent (99-80%)

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

46
# 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 LHX4 POU1F1 PROP1 HESX1 LHX3
3 hearing/vestibular/ear MP:0005377 9.33 HESX1 LHX3 POU1F1
4 nervous system MP:0003631 9.02 HESX1 LHX3 LHX4 POU1F1 PROP1

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:

41
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 dorsal/ventral pattern formation GO:0009953 9.49 LHX3 PROP1
8 placenta development GO:0001890 9.48 LHX3 LHX4
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 DNA binding GO:0003677 9.55 HESX1 LHX3 LHX4 POU1F1 PROP1
2 chromatin binding GO:0003682 9.5 HESX1 POU1F1 PROP1
3 protein C-terminus binding GO:0008022 9.43 HESX1 PROP1
4 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.43 HESX1 LHX3 POU1F1
5 transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific DNA binding GO:0001228 9.4 LHX3 LHX4
6 RNA polymerase II transcription factor binding GO:0001085 9.37 LHX3 POU1F1
7 RNA polymerase II transcription factor activity, sequence-specific DNA binding GO:0000981 9.35 HESX1 LHX3 LHX4 POU1F1 PROP1
8 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
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
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