MCID: HYP488
MIFTS: 27

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:
52Orphanet, 29ICD10 via Orphanet
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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 52

Characteristics:

Orphanet epidemiological data:

52

Classifications:



External Ids:

Orphanet52 ORPHA226307
ICD10 via Orphanet29 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 hypothryoidism, congenital, nongoitrous 4 and olecranon bursitis, and has symptoms including abnormality of the fontanelles or cranial sutures, coarse facial features and hypothyroidism. 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, hypothalamus and liver, and related mouse phenotypes are hearing/vestibular/ear and craniofacial.

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 11)
idRelated DiseaseScoreTop Affiliating Genes
1hypothryoidism, congenital, nongoitrous 49.9POU1F1, PROP1
2olecranon bursitis9.3LHX3, PROP1
3aortic valve atresia9.1HESX1, LHX4, POU1F1
4tricuspid valve agenesis8.9HESX1, LHX4, POU1F1, PROP1
5squamous cell papilloma of skin8.4HESX1, LHX3, LHX4, POU1F1
6primary fanconi syndrome8.2HESX1, LHX3, LHX4, POU1F1, PROP1
7complete lcat deficiency8.2HESX1, LHX3, LHX4, POU1F1, PROP1
8fallopian tube clear cell adenocarcinoma8.2HESX1, LHX3, LHX4, POU1F1, PROP1
9diabetes insipidus8.1HESX1, LHX3, LHX4, POU1F1, PROP1
10molybdenum cofactor deficiency b8.1HESX1, LHX3, LHX4, POU1F1, PROP1
11mental retardation, x-linked syndromic, christianson type8.0HESX1, 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 for Hypothyroidism Due to Deficient Transcription Factors Involved...

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Symptoms:

 52 (show all 19)
  • oral cleft
  • large fontanelles
  • abnormality of the face
  • coarse facial features
  • hypothyroidism
  • abnormality of the hypothalamus-pituitary axis
  • jaundice
  • intellectual disability
  • muscular hypotonia
  • global developmental delay
  • umbilical hernia
  • constipation
  • sleep disturbance
  • abdominal distention
  • short stature
  • central hypothyroidism
  • feeding difficulties
  • fatigue
  • septo-optic dysplasia

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

(show all 14)
id Description Frequency HPO Source Accession
1 abnormality of the fontanelles or cranial sutures hallmark (90%) HP:0000235
2 coarse facial features hallmark (90%) HP:0000280
3 hypothyroidism hallmark (90%) HP:0000821
4 muscular hypotonia hallmark (90%) HP:0001252
5 abnormality of the liver hallmark (90%) HP:0001392
6 umbilical hernia hallmark (90%) HP:0001537
7 constipation hallmark (90%) HP:0002019
8 sleep disturbance hallmark (90%) HP:0002360
9 aplasia/hypoplasia of the abdominal wall musculature hallmark (90%) HP:0010318
10 oral cleft typical (50%) HP:0000202
11 anterior hypopituitarism typical (50%) HP:0000830
12 short stature typical (50%) HP:0004322
13 cognitive impairment typical (50%) HP:0100543
14 septo-optic dysplasia typical (50%) HP:0100842

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:

34
Pituitary, Hypothalamus, Liver

Animal Models for Hypothyroidism Due to Deficient Transcription Factors Involved... or affiliated genes

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

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053779.0HESX1, LHX3, POU1F1
2MP:00053829.0HESX1, LHX3, POU1F1
3MP:00053797.5HESX1, LHX3, LHX4, POU1F1, PROP1
4MP:00107687.4HESX1, LHX3, LHX4, POU1F1, PROP1
5MP:00036317.2HESX1, LHX3, LHX4, POU1F1, PROP1

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:00056679.2LHX3, POU1F1, PROP1
2nucleusGO:00056347.5HESX1, LHX3, LHX4, 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 10)
idNameGO IDScoreTop Affiliating Genes
1somatotropin secreting cell differentiationGO:006012610.1POU1F1, PROP1
2medial motor column neuron differentiationGO:00215269.7LHX3, LHX4
3pituitary gland developmentGO:00219839.6LHX3, POU1F1
4motor neuron axon guidanceGO:00080459.6LHX3, LHX4
5adenohypophysis developmentGO:00219849.4POU1F1, PROP1
6placenta developmentGO:00018909.3LHX3, LHX4
7dorsal/ventral pattern formationGO:00099539.2LHX3, PROP1
8animal organ morphogenesisGO:00098878.9LHX3, LHX4, PROP1
9positive regulation of transcription from RNA polymerase II promoterGO:00459448.7LHX3, POU1F1, PROP1
10negative regulation of apoptotic processGO:00430668.6LHX3, LHX4, PROP1

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:00080229.8HESX1, PROP1
2RNA polymerase II transcription factor bindingGO:00010859.5LHX3, POU1F1
3chromatin bindingGO:00036828.7HESX1, POU1F1, PROP1
4sequence-specific DNA bindingGO:00435658.0HESX1, LHX3, LHX4, POU1F1

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

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet