MCID: HYP488
MIFTS: 30

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 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 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 intellectual disability and muscular hypotonia

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 18)
# Related Disease Score Top Affiliating Genes
1 isolated growth hormone deficiency, type ii 9.9 HESX1 POU1F1
2 neonatal thyrotoxicosis 9.8 LHX3 PROP1
3 hypothyroidism, congenital, nongoitrous, 4 9.8 POU1F1 PROP1
4 pituitary stalk interruption syndrome 9.8 HESX1 LHX4 POU1F1
5 pituitary tumors 9.8 POU1F1 PROP1
6 craniopharyngioma 9.7 POU1F1 PROP1
7 isolated growth hormone deficiency 9.6 HESX1 POU1F1 PROP1
8 kallmann syndrome 9.6 HESX1 LHX3 PROP1
9 pituitary hormone deficiency, combined, 1 9.6 HESX1 LHX3 LHX4 POU1F1
10 pituitary hypoplasia 9.6 HESX1 LHX3 LHX4 POU1F1
11 combined pituitary hormone deficiencies, genetic forms 9.5 HESX1 LHX4 POU1F1 PROP1
12 hypothyroidism 9.5 HESX1 LHX3 POU1F1 PROP1
13 pituitary gland disease 9.4 HESX1 LHX3 POU1F1 PROP1
14 septooptic dysplasia 9.3 HESX1 LHX3 LHX4 POU1F1 PROP1
15 combined pituitary hormone deficiency 9.3 HESX1 LHX3 LHX4 POU1F1 PROP1
16 pituitary hormone deficiency, combined, 2 9.3 HESX1 LHX3 LHX4 POU1F1 PROP1
17 borjeson-forssman-lehmann syndrome 9.3 HESX1 LHX3 LHX4 POU1F1 PROP1
18 hypopituitarism 9.3 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 intellectual disability 59 32 frequent (33%) Frequent (79-30%) HP:0001249
2 muscular hypotonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001252
3 constipation 59 32 hallmark (90%) Very frequent (99-80%) HP:0002019
4 sleep disturbance 59 32 hallmark (90%) Very frequent (99-80%) HP:0002360
5 coarse facial features 59 32 hallmark (90%) Very frequent (99-80%) HP:0000280
6 global developmental delay 59 32 frequent (33%) Frequent (79-30%) HP:0001263
7 umbilical hernia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001537
8 short stature 59 32 frequent (33%) Frequent (79-30%) HP:0004322
9 fatigue 59 32 hallmark (90%) Very frequent (99-80%) HP:0012378
10 feeding difficulties 59 32 hallmark (90%) Very frequent (99-80%) HP:0011968
11 jaundice 59 32 hallmark (90%) Very frequent (99-80%) HP:0000952
12 large fontanelles 59 32 hallmark (90%) Very frequent (99-80%) HP:0000239
13 abdominal distention 59 32 hallmark (90%) Very frequent (99-80%) HP:0003270
14 oral cleft 59 32 frequent (33%) Frequent (79-30%) HP:0000202
15 abnormality of the hypothalamus-pituitary axis 59 32 frequent (33%) Frequent (79-30%) HP:0000864
16 septo-optic dysplasia 59 32 frequent (33%) Frequent (79-30%) HP:0100842
17 central hypothyroidism 59 32 frequent (33%) Frequent (79-30%) HP:0011787
18 hypothyroidism 59 Very frequent (99-80%)
19 abnormality of the face 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 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:

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 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 transcription by RNA polymerase II GO:0006366 9.71 LHX3 LHX4 POU1F1 PROP1
3 negative regulation of apoptotic process GO:0043066 9.69 LHX3 LHX4 PROP1
4 regulation of transcription, DNA-templated GO:0006355 9.65 HESX1 LHX3 LHX4 POU1F1 PROP1
5 animal organ morphogenesis GO:0009887 9.5 LHX3 LHX4 PROP1
6 placenta development GO:0001890 9.49 LHX3 LHX4
7 dorsal/ventral pattern formation GO:0009953 9.48 LHX3 PROP1
8 motor neuron axon guidance GO:0008045 9.43 LHX3 LHX4
9 adenohypophysis development GO:0021984 9.37 POU1F1 PROP1
10 somatotropin secreting cell differentiation GO:0060126 9.16 POU1F1 PROP1
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
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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