MCID: HYP488
MIFTS: 33

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

Genetic diseases, Endocrine diseases, Rare diseases, Immune diseases categories

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 thyrotropin deficiency, isolated and dwarfism, 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 PROP1 (PROP paired-like homeobox 1). The compounds gnrh and acth have been mentioned in the context of this disorder. Affiliated tissues include pituitary, and related mouse phenotypes are hearing/vestibular/ear and reproductive system.

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

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50Orphanet, 27ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Endocrine diseases, Immune diseases


Aliases & Descriptions:

hypothyroidism due to deficient transcription factors involved in pituitary development or function 50


External Ids:

ICD10 via Orphanet27 E03.1

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

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18GeneCards, 19GeneDecks
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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 17)
idRelated DiseaseScoreTop Affiliating Genes
1thyrotropin deficiency, isolated10.0PROP1, POU1F1
2dwarfism10.0POU1F1, PROP1
3pituitary adenoma10.0PROP1, POU1F1
4hypogonadism10.0PROP1, POU1F1
5pituitary gland disease10.0PROP1, HESX1, LHX3
6acth deficiency10.0POU1F1, HESX1, PROP1
7empty sella syndrome10.0PROP1, POU1F1, LHX3
8pituitary tumors10.0PROP1, POU1F1
9kallmann syndrome10.0PROP1, HESX1, LHX3
10growth hormone deficiency10.0POU1F1, HESX1, PROP1
11septo-optic dysplasia9.9PROP1, HESX1, POU1F1, LHX3
12hypothyroidism9.9LHX3, POU1F1, HESX1, PROP1
13short stature9.9LHX4, POU1F1, HESX1, PROP1
14pituitary hypoplasia9.8PROP1, LHX3, LHX4, POU1F1, HESX1
15panhypopituitarism9.8LHX3, LHX4, POU1F1, HESX1, PROP1
16hypopituitarism9.8LHX3, LHX4, POU1F1, HESX1, PROP1
17holoprosencephaly9.8LHX3, LHX4, POU1F1, HESX1, 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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50Orphanet
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Symptoms:

50 (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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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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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

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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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34MalaCards
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MalaCards organs/tissues related to Hypothyroidism Due to Deficient Transcription Factors Involved in Pituitary Development or Function:

34
Pituitary

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

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38MGI
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MGI Mouse Phenotypes related to Hypothyroidism Due to Deficient Transcription Factors Involved in Pituitary Development or Function:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053778.9LHX3, HESX1, POU1F1
2MP:00053898.9LHX3, POU1F1, PROP1
3MP:00053828.8HESX1, POU1F1, LHX3
4MP:00053888.6LHX4, HESX1, PROP1
5MP:00053767.8LHX3, LHX4, POU1F1, PROP1
6MP:00053797.7LHX3, LHX4, POU1F1, HESX1, PROP1
7MP:00036317.7LHX3, HESX1, PROP1, POU1F1, LHX4
8MP:00107687.6LHX4, POU1F1, HESX1, PROP1, LHX3

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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2BioGPS, 16Gene 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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Compounds related to Hypothyroidism Due to Deficient Transcription Factors Involved in Pituitary Development or Function according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1gnrh469.0PROP1, HESX1, LHX3
2acth468.6PROP1, HESX1, POU1F1

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

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17Gene 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:0056679.5PROP1, LHX3
2nucleusGO:0056347.2PROP1, HESX1, POU1F1, LHX4, LHX3

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:0215269.2LHX4, LHX3
2motor neuron axon guidanceGO:0080459.2LHX4, LHX3
3placenta developmentGO:0018909.1LHX4, LHX3
4positive regulation of transcription from RNA polymerase II promoterGO:0459448.9PROP1, POU1F1, LHX3
5organ morphogenesisGO:0098878.8LHX4, LHX3
6negative regulation of apoptotic processGO:0430668.6LHX3, LHX4, 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:0080229.5PROP1, HESX1
2chromatin bindingGO:0036828.6PROP1, HESX1, POU1F1
3sequence-specific DNA bindingGO:0435657.9LHX3, LHX4, POU1F1, HESX1
4sequence-specific DNA binding transcription factor activityGO:0037007.5PROP1, HESX1, POU1F1, LHX4, LHX3

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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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet