MCID: HYP488
MIFTS: 26

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 58

Characteristics:

Orphanet epidemiological data:

58

Classifications:

Orphanet: 58  
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 neonatal thyrotoxicosis and empty sella syndrome. An important gene associated with Hypothyroidism Due to Deficient Transcription Factors Involved in Pituitary Development or Function is HESX1 (HESX Homeobox 1). Affiliated tissues include pituitary, thyroid and hypothalamus, and related phenotypes are coarse facial features 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 Rare Adult Hypothyroidism
Transient Congenital Hypothyroidism Rare Hypothyroidism
Primary Congenital Hypothyroidism Hypothyroidism Due to Deficient Transcription Factors Involved in Pituitary Development or Function
Congenital Hypothyroidism Due to Maternal Intake of Antithyroid Drugs Transient Congenital Hypothyroidism Due to Maternal Factor
Transient Congenital Hypothyroidism Due to Neonatal Factor Congenital Hypothyroidism Due to Transplacental Passage of Tsh-Binding Inhibitory Antibodies
Congenital Hypothyroidism Due to Developmental Anomaly

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 25)
# Related Disease Score Top Affiliating Genes
1 neonatal thyrotoxicosis 9.8 PROP1 LHX3
2 empty sella syndrome 9.7 PROP1 LHX3
3 craniopharyngioma 9.6 PROP1 POU1F1
4 hypothyroidism, congenital, nongoitrous, 4 9.5 PROP1 POU1F1
5 hypogonadotropic hypogonadism 9.5 PROP1 HESX1
6 congenital hypopituitarism 9.5 PROP1 LHX4 HESX1
7 axenfeld-rieger syndrome 9.4 POU1F1 HESX1
8 acth deficiency, isolated 9.4 PROP1 LHX4 LHX3
9 cryptorchidism, unilateral or bilateral 9.4 PROP1 LHX4 HESX1
10 adamantinous craniopharyngioma 9.3 PROP1 POU1F1 HESX1
11 hypothyroidism, central, with testicular enlargement 9.3 PROP1 POU1F1 LHX3
12 isolated growth hormone deficiency, type ii 9.3 PROP1 POU1F1 HESX1
13 pituitary stalk interruption syndrome 9.2 POU1F1 LHX4 HESX1
14 combined pituitary hormone deficiencies, genetic forms 8.9 PROP1 POU1F1 LHX4 HESX1
15 pituitary hormone deficiency, combined, 1 8.9 POU1F1 LHX4 LHX3 HESX1
16 pituitary hypoplasia 8.9 POU1F1 LHX4 LHX3 HESX1
17 hypothyroidism 8.5 PROP1 POU1F1 LHX4 LHX3 HESX1
18 borjeson-forssman-lehmann syndrome 8.5 PROP1 POU1F1 LHX4 LHX3 HESX1
19 pituitary hormone deficiency, combined, 2 8.5 PROP1 POU1F1 LHX4 LHX3 HESX1
20 pituitary gland disease 8.5 PROP1 POU1F1 LHX4 LHX3 HESX1
21 isolated growth hormone deficiency 8.5 PROP1 POU1F1 LHX4 LHX3 HESX1
22 septooptic dysplasia 8.5 PROP1 POU1F1 LHX4 LHX3 HESX1
23 hypopituitarism 8.5 PROP1 POU1F1 LHX4 LHX3 HESX1
24 holoprosencephaly 8.5 PROP1 POU1F1 LHX4 LHX3 HESX1
25 kallmann syndrome 8.5 PROP1 POU1F1 LHX4 LHX3 HESX1

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:

58 31 (show all 19)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 coarse facial features 58 31 hallmark (90%) Very frequent (99-80%) HP:0000280
2 muscular hypotonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001252
3 umbilical hernia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001537
4 sleep disturbance 58 31 hallmark (90%) Very frequent (99-80%) HP:0002360
5 fatigue 58 31 hallmark (90%) Very frequent (99-80%) HP:0012378
6 feeding difficulties 58 31 hallmark (90%) Very frequent (99-80%) HP:0011968
7 jaundice 58 31 hallmark (90%) Very frequent (99-80%) HP:0000952
8 constipation 58 31 hallmark (90%) Very frequent (99-80%) HP:0002019
9 large fontanelles 58 31 hallmark (90%) Very frequent (99-80%) HP:0000239
10 abdominal distention 58 31 hallmark (90%) Very frequent (99-80%) HP:0003270
11 intellectual disability 58 31 frequent (33%) Frequent (79-30%) HP:0001249
12 global developmental delay 58 31 frequent (33%) Frequent (79-30%) HP:0001263
13 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
14 oral cleft 58 31 frequent (33%) Frequent (79-30%) HP:0000202
15 abnormality of the hypothalamus-pituitary axis 58 31 frequent (33%) Frequent (79-30%) HP:0000864
16 septo-optic dysplasia 58 31 frequent (33%) Frequent (79-30%) HP:0100842
17 central hypothyroidism 58 31 frequent (33%) Frequent (79-30%) HP:0011787
18 hypothyroidism 58 Very frequent (99-80%)
19 abnormality of the face 58 Very frequent (99-80%)

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

45
# 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:

40
Pituitary, Thyroid, 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 nuclear chromatin GO:0000790 9.02 PROP1 POU1F1 LHX4 LHX3 HESX1

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 9.73 PROP1 POU1F1 LHX4 LHX3
2 negative regulation of transcription by RNA polymerase II GO:0000122 9.69 PROP1 POU1F1 HESX1
3 negative regulation of apoptotic process GO:0043066 9.67 PROP1 LHX4 LHX3
4 regulation of transcription, DNA-templated GO:0006355 9.65 PROP1 POU1F1 LHX4 LHX3 HESX1
5 animal organ morphogenesis GO:0009887 9.54 PROP1 LHX4 LHX3
6 neuron differentiation GO:0030182 9.52 LHX4 LHX3
7 placenta development GO:0001890 9.48 LHX4 LHX3
8 dorsal/ventral pattern formation GO:0009953 9.46 PROP1 LHX3
9 motor neuron axon guidance GO:0008045 9.4 LHX4 LHX3
10 adenohypophysis development GO:0021984 9.32 PROP1 POU1F1
11 somatotropin secreting cell differentiation GO:0060126 9.16 PROP1 POU1F1
12 medial motor column neuron differentiation GO:0021526 8.96 LHX4 LHX3
13 pituitary gland development GO:0021983 8.92 PROP1 POU1F1 LHX3 HESX1

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 9.72 PROP1 POU1F1 LHX4 LHX3 HESX1
2 chromatin binding GO:0003682 9.58 PROP1 POU1F1 HESX1
3 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.56 PROP1 POU1F1 LHX3 HESX1
4 DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001228 9.46 PROP1 POU1F1 LHX4 LHX3
5 protein C-terminus binding GO:0008022 9.43 PROP1 HESX1
6 RNA polymerase II transcription factor binding GO:0001085 9.37 POU1F1 LHX3
7 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.35 PROP1 POU1F1 LHX4 LHX3 HESX1
8 sequence-specific DNA binding GO:0043565 9.02 PROP1 POU1F1 LHX4 LHX3 HESX1

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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