MCID: HYP488
MIFTS: 29

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

Endocrine diseases category

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

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MalaCards: Hypothyroidism Due to Deficient Transcription Factors Involved in Pituitary Development or Function is related to craniopharyngioma and neonatal thyrotoxicosis, and has symptoms including septo-optic dysplasia, large fontanelle/delayed fontanelle closure and cleft lip and palate. An important gene associated with Hypothyroidism Due to Deficient Transcription Factors Involved in Pituitary Development or Function is POU1F1 (POU class 1 homeobox 1). The compounds acth and gnrh have been mentioned in the context of this disorder. Affiliated tissues include pituitary, and related mouse phenotypes are respiratory system and craniofacial.

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

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48Orphanet, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Endocrine diseases


Aliases & Descriptions:

hypothyroidism due to deficient transcription factors involved in pituitary development or function 48


External Ids:

ICD10 via Orphanet26 E03.1

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

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17GeneCards, 18GeneDecks
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Diseases in the Hypothyroidism, Congenital, Due to Thyroid Dysgenesis or Hypoplasia family:

Congenital Hypothyroidism Hypothyroidism
Familial Hypothyroidism Hypothyroidism Due to Iodide Transport Defect
Congenital Hypothyroidism, Duox2-Related Congenital Hypothyroidism, Iyd-Related
Congenital Hypothyroidism, Tpo-Related Hypothyroidism, Autoimmune
Transient Congenital Hypothyroidism 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/GeneDecks gene sharing:

(show all 20)
idRelated DiseaseScoreTop Affiliating Genes
1craniopharyngioma10.0PROP1
2neonatal thyrotoxicosis10.0LHX3
3hypogonadism10.0POU1F1, PROP1
4dwarfism10.0POU1F1, PROP1
5thyrotropin deficiency, isolated10.0POU1F1, PROP1
6adenoma10.0POU1F1, PROP1
7pituitary adenoma10.0POU1F1, PROP1
8pituitary tumors10.0POU1F1, PROP1
9acth deficiency10.0HESX1, PROP1, POU1F1
10growth hormone deficiency10.0POU1F1, PROP1, HESX1
11empty sella syndrome10.0POU1F1, PROP1, LHX3
12pituitary gland disease10.0PROP1, HESX1, LHX3
13kallmann syndrome10.0LHX3, HESX1, PROP1
14short stature10.0LHX4, HESX1, PROP1, POU1F1
15septo-optic dysplasia10.0POU1F1, PROP1, HESX1, LHX3
16hypothyroidism10.0LHX3, HESX1, PROP1, POU1F1
17pituitary hypoplasia10.0POU1F1, PROP1, HESX1, LHX3, LHX4
18panhypopituitarism10.0LHX4, LHX3, HESX1, PROP1, POU1F1
19hypopituitarism10.0POU1F1, PROP1, HESX1, LHX3, LHX4
20holoprosencephaly10.0LHX4, LHX3, HESX1, PROP1, POU1F1

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

Clinical Features for Hypothyroidism Due to Deficient Transcription Factors Involved...

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48Orphanet
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Symptoms:

48 (show all 17)
  • septo-optic dysplasia
  • large fontanelle/delayed fontanelle closure
  • cleft lip and palate
  • face/facial anomalies
  • hypothalamic-hypophyseal axis functional anomalies/hypopituitarism
  • hepatitis/icterus/cholestasis
  • asthenia/fatigue/weakness
  • absent/hypotonic/flaccid abdominal wall muscles
  • short stature/dwarfism/nanism
  • umbilical hernia
  • coarse face
  • hypotonia
  • hypothyroidy
  • constipation
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • sleep and vigilance disorders

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

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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

Drug clinical trials:

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

Search NIH Clinical Center for Hypothyroidism Due to Deficient Transcription Factors Involved in Pituitary Development or Function

Search CenterWatch 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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32MalaCards
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MalaCards organs/tissues related to Hypothyroidism Due to Deficient Transcription Factors Involved in Pituitary Development or Function:

32
Pituitary

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

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36MGI
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MGI Mouse Phenotypes related to Hypothyroidism Due to Deficient Transcription Factors Involved in Pituitary Development or Function:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053888.8PROP1, HESX1, LHX4
2MP:00053828.3POU1F1, LHX3, HESX1
3MP:00053797.6HESX1, LHX4, LHX3, PROP1, POU1F1
4MP:00036317.5POU1F1, HESX1, PROP1, LHX3, LHX4
5MP:00107687.4LHX3, HESX1, PROP1, POU1F1, LHX4

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

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Genetic 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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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Hypothyroidism Due to Deficient Transcription Factors Involved in Pituitary Development or Function

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

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44Novoseek
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Compounds related to Hypothyroidism Due to Deficient Transcription Factors Involved in Pituitary Development or Function according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1acth448.6POU1F1, PROP1, HESX1
2gnrh448.5PROP1, HESX1, LHX3

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

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16Gene Ontology
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Cellular components related to Hypothyroidism Due to Deficient Transcription Factors Involved in Pituitary Development or Function according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1transcription factor complexGO:0056679.1PROP1, LHX3
2nucleusGO:0056347.2POU1F1, PROP1, HESX1, LHX3, LHX4

Biological processes related to Hypothyroidism Due to Deficient Transcription Factors Involved in Pituitary Development or Function according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1medial motor column neuron differentiationGO:0215269.2LHX3, LHX4
2motor neuron axon guidanceGO:0080459.2LHX3, LHX4
3placenta developmentGO:0018909.1LHX3, LHX4
4organ morphogenesisGO:0098878.8LHX3, LHX4
5positive regulation of transcription from RNA polymerase II promoterGO:0459448.7POU1F1, PROP1, LHX3
6negative regulation of apoptotic processGO:0430668.5LHX4, LHX3, PROP1

Molecular functions related to Hypothyroidism Due to Deficient Transcription Factors Involved in Pituitary Development or Function according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein C-terminus bindingGO:0080229.3PROP1, HESX1
2chromatin bindingGO:0036828.6POU1F1, PROP1, HESX1
3sequence-specific DNA bindingGO:0435658.0LHX4, LHX3, HESX1, POU1F1
4sequence-specific DNA binding transcription factor activityGO:0037007.5POU1F1, PROP1, HESX1, LHX3, LHX4

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

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

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

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet