MCID: HYP488
MIFTS: 26

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

Categories: Genetic diseases, Endocrine diseases, Rare diseases, Immune diseases

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

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Sources:
31ICD10 via Orphanet, 54Orphanet
See all MalaCards sources

Aliases & Descriptions 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 54

Characteristics:

Orphanet epidemiological data:

54

Classifications:



External Ids:

Orphanet54 ORPHA226307
ICD10 via Orphanet31 E03.1

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

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MalaCards based summary: Hypothyroidism Due to Deficient Transcription Factors Involved in Pituitary Development or Function is related to potter's syndrome and mental retardation, x-linked syndromic, christianson type, and has symptoms including Array, Array and Array. 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 and hypothalamus, and related mouse phenotypes are hearing/vestibular/ear and endocrine/exocrine gland.

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

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Diseases in the Hypothyroidism family:

Hypothyroidism, Congenital, Due to Thyroid Dysgenesis or Hypoplasia Congenital Hypothyroidism
Central Congenital Hypothyroidism Hypothyroidism Due to Iodide Transport Defect
Congenital Hypothyroidism, Duoxa2-Related Congenital Hypothyroidism, Duox2-Related
Congenital Hypothyroidism, Iyd-Related Congenital Hypothyroidism, Tpo-Related
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 20)
idRelated DiseaseScoreTop Affiliating Genes
1potter's syndrome10.0LHX3, PROP1
2mental retardation, x-linked syndromic, christianson type9.9POU1F1, PROP1
3microvascular complications of diabetes 39.9HESX1, POU1F1
4caudal regression syndrome9.9POU1F1, PROP1
5epidural neoplasm9.8HESX1, LHX3, PROP1
6cholesterol embolism9.8POU1F1, PROP1
7rheumatic encephalitis9.8POU1F1, PROP1
8gynandroblastoma9.7HESX1, POU1F1
9plasmalogens synthesis deficiency isolated9.7HESX1, LHX4, POU1F1
10shaver's disease9.6HESX1, LHX3, POU1F1, PROP1
11adult i blood group with or without congenital cataract9.5HESX1, LHX3, POU1F1, PROP1
12congenital amputation9.5HESX1, LHX4, POU1F1, PROP1
13l-cell glucagon-like peptide producing tumor9.5HESX1, LHX3, LHX4, POU1F1
14idiopathic hypersomnia without long sleep time9.3HESX1, LHX3, LHX4, POU1F1, PROP1
15early-onset glaucoma9.3HESX1, LHX3, LHX4, POU1F1, PROP1
16aminoacylase 1 deficiency9.3HESX1, LHX3, LHX4, POU1F1, PROP1
17ossification of the posterior longitudinal ligament of spine9.3HESX1, LHX3, LHX4, POU1F1, PROP1
18mucopolysaccharidosis type vi9.3HESX1, LHX3, LHX4, POU1F1, PROP1
19urethra clear cell adenocarcinoma9.3HESX1, LHX3, LHX4, POU1F1, PROP1
20cervix squamous papilloma9.3HESX1, LHX3, LHX4, POU1F1, PROP1

Graphical network of 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...

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

 54 64 (show all 19)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 oral cleft64 54 Frequent (79-30%) HP:0000202
2 large fontanelles64 54 Very frequent (99-80%) HP:0000239
3 abnormality of the face54 Very frequent (99-80%)
4 coarse facial features64 54 Very frequent (99-80%) HP:0000280
5 hypothyroidism54 Very frequent (99-80%)
6 abnormality of the hypothalamus-pituitary axis64 54 Frequent (79-30%) HP:0000864
7 jaundice64 54 Very frequent (99-80%) HP:0000952
8 intellectual disability64 54 Frequent (79-30%) HP:0001249
9 muscular hypotonia64 54 Very frequent (99-80%) HP:0001252
10 global developmental delay64 54 Frequent (79-30%) HP:0001263
11 umbilical hernia64 54 Very frequent (99-80%) HP:0001537
12 constipation64 54 Very frequent (99-80%) HP:0002019
13 sleep disturbance64 54 Very frequent (99-80%) HP:0002360
14 abdominal distention64 54 Very frequent (99-80%) HP:0003270
15 short stature64 54 Frequent (79-30%) HP:0004322
16 central hypothyroidism64 54 Frequent (79-30%) HP:0011787
17 feeding difficulties64 54 Very frequent (99-80%) HP:0011968
18 fatigue64 54 Very frequent (99-80%) HP:0012378
19 septo-optic dysplasia64 54 Frequent (79-30%) HP:0100842

MGI Mouse Phenotypes related to Hypothyroidism Due to Deficient Transcription Factors Involved in Pituitary Development or Function according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053779.5HESX1, LHX3, POU1F1
2MP:00053798.3HESX1, LHX3, LHX4, POU1F1, PROP1
3MP:00107688.3HESX1, LHX3, LHX4, POU1F1, PROP1
4MP:00036317.5HESX1, LHX3, LHX4, POU1F1, PROP1

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

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Interventional clinical trials:

Search ClinicalTrials, 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...

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

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

36
Pituitary, Hypothalamus

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

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

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Expression for genes affiliated with Hypothyroidism Due to Deficient Transcription Factors Involved...

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

Pathways for genes affiliated with Hypothyroidism Due to Deficient Transcription Factors Involved...

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GO Terms for genes affiliated with Hypothyroidism Due to Deficient Transcription Factors Involved...

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

idNameGO IDScoreTop Affiliating Genes
1transcription factor complexGO:00056678.6LHX3, 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 13)
idNameGO IDScoreTop Affiliating Genes
1dorsal/ventral pattern formationGO:000995310.2LHX3, PROP1
2medial motor column neuron differentiationGO:002152610.1LHX3, LHX4
3motor neuron axon guidanceGO:000804510.1LHX3, LHX4
4placenta developmentGO:000189010.1LHX3, LHX4
5adenohypophysis developmentGO:00219849.9POU1F1, PROP1
6somatotropin secreting cell differentiationGO:00601269.9POU1F1, PROP1
7animal organ morphogenesisGO:00098879.6LHX3, LHX4, PROP1
8negative regulation of apoptotic processGO:00430669.6LHX3, LHX4, PROP1
9pituitary gland developmentGO:00219839.5HESX1, LHX3, POU1F1
10negative regulation of transcription from RNA polymerase II promoterGO:00001229.5HESX1, POU1F1, PROP1
11transcription from RNA polymerase II promoterGO:00063669.4LHX3, POU1F1, PROP1
12regulation of transcription, DNA-templatedGO:00063558.3HESX1, LHX3, LHX4, POU1F1, PROP1
13transcription, DNA-templatedGO:00063518.1HESX1, LHX3, LHX4, POU1F1

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

idNameGO IDScoreTop Affiliating Genes
1protein C-terminus bindingGO:000802210.2HESX1, PROP1
2RNA polymerase II transcription factor bindingGO:00010859.8LHX3, POU1F1
3chromatin bindingGO:00036829.4HESX1, POU1F1, PROP1
4RNA polymerase II core promoter proximal region sequence-specific DNA bindingGO:00009789.3HESX1, LHX3, POU1F1
5DNA bindingGO:00036778.2HESX1, LHX3, LHX4, POU1F1, PROP1
6sequence-specific DNA bindingGO:00435657.5HESX1, LHX3, LHX4, POU1F1, PROP1

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

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet