MCID: HYP488
MIFTS: 29

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

Categories: Endocrine diseases, Immune diseases, Metabolic diseases, Neuronal diseases, Rare 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 60

Characteristics:

Orphanet epidemiological data:

60

Classifications:

Orphanet: 60  
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 isolated growth hormone deficiency, type ii and neonatal thyrotoxicosis. An important gene associated with Hypothyroidism Due to Deficient Transcription Factors Involved in Pituitary Development or Function is LHX4 (LIM Homeobox 4). Affiliated tissues include pituitary and hypothalamus, and related phenotypes are muscular hypotonia and constipation

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 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 18)
# Related Disease Score Top Affiliating Genes
1 isolated growth hormone deficiency, type ii 9.8 HESX1 POU1F1
2 neonatal thyrotoxicosis 9.7 LHX3 PROP1
3 hypothyroidism, congenital, nongoitrous, 4 9.7 POU1F1 PROP1
4 pituitary stalk interruption syndrome 9.6 HESX1 LHX4 POU1F1
5 pituitary tumors 9.6 POU1F1 PROP1
6 craniopharyngioma 9.5 POU1F1 PROP1
7 isolated growth hormone deficiency 9.4 HESX1 POU1F1 PROP1
8 kallmann syndrome 9.4 HESX1 LHX3 PROP1
9 pituitary hormone deficiency, combined, 1 9.4 HESX1 LHX3 LHX4 POU1F1
10 pituitary hypoplasia 9.4 HESX1 LHX3 LHX4 POU1F1
11 combined pituitary hormone deficiencies, genetic forms 9.2 HESX1 LHX4 POU1F1 PROP1
12 hypothyroidism 9.2 HESX1 LHX3 POU1F1 PROP1
13 pituitary gland disease 9.1 HESX1 LHX3 POU1F1 PROP1
14 septooptic dysplasia 8.9 HESX1 LHX3 LHX4 POU1F1 PROP1
15 combined pituitary hormone deficiency 8.9 HESX1 LHX3 LHX4 POU1F1 PROP1
16 pituitary hormone deficiency, combined, 2 8.9 HESX1 LHX3 LHX4 POU1F1 PROP1
17 borjeson-forssman-lehmann syndrome 8.9 HESX1 LHX3 LHX4 POU1F1 PROP1
18 hypopituitarism 8.9 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:

60 33 (show all 19)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 muscular hypotonia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001252
2 constipation 60 33 hallmark (90%) Very frequent (99-80%) HP:0002019
3 sleep disturbance 60 33 hallmark (90%) Very frequent (99-80%) HP:0002360
4 coarse facial features 60 33 hallmark (90%) Very frequent (99-80%) HP:0000280
5 umbilical hernia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001537
6 fatigue 60 33 hallmark (90%) Very frequent (99-80%) HP:0012378
7 feeding difficulties 60 33 hallmark (90%) Very frequent (99-80%) HP:0011968
8 jaundice 60 33 hallmark (90%) Very frequent (99-80%) HP:0000952
9 large fontanelles 60 33 hallmark (90%) Very frequent (99-80%) HP:0000239
10 abdominal distention 60 33 hallmark (90%) Very frequent (99-80%) HP:0003270
11 intellectual disability 60 33 frequent (33%) Frequent (79-30%) HP:0001249
12 global developmental delay 60 33 frequent (33%) Frequent (79-30%) HP:0001263
13 short stature 60 33 frequent (33%) Frequent (79-30%) HP:0004322
14 oral cleft 60 33 frequent (33%) Frequent (79-30%) HP:0000202
15 abnormality of the hypothalamus-pituitary axis 60 33 frequent (33%) Frequent (79-30%) HP:0000864
16 septo-optic dysplasia 60 33 frequent (33%) Frequent (79-30%) HP:0100842
17 central hypothyroidism 60 33 frequent (33%) Frequent (79-30%) HP:0011787
18 hypothyroidism 60 Very frequent (99-80%)
19 abnormality of the face 60 Very frequent (99-80%)

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

47
# 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 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:

42
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 12)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 9.76 LHX3 LHX4 POU1F1 PROP1
2 negative regulation of apoptotic process GO:0043066 9.69 LHX3 LHX4 PROP1
3 regulation of transcription, DNA-templated GO:0006355 9.65 HESX1 LHX3 LHX4 POU1F1 PROP1
4 animal organ morphogenesis GO:0009887 9.5 LHX3 LHX4 PROP1
5 placenta development GO:0001890 9.49 LHX3 LHX4
6 dorsal/ventral pattern formation GO:0009953 9.48 LHX3 PROP1
7 motor neuron axon guidance GO:0008045 9.43 LHX3 LHX4
8 adenohypophysis development GO:0021984 9.37 POU1F1 PROP1
9 somatotropin secreting cell differentiation GO:0060126 9.16 POU1F1 PROP1
10 transcription by RNA polymerase II GO:0006366 9.1 POU1F1
11 medial motor column neuron differentiation GO:0021526 8.96 LHX3 LHX4
12 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 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.54 HESX1 LHX3 POU1F1
3 chromatin binding GO:0003682 9.5 HESX1 POU1F1 PROP1
4 protein C-terminus binding GO:0008022 9.43 HESX1 PROP1
5 DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001228 9.4 LHX3 LHX4
6 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.35 HESX1 LHX3 LHX4 POU1F1 PROP1
7 RNA polymerase II transcription factor binding GO:0001085 9.26 LHX3 POU1F1
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
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10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
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45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
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58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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