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
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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 thyrotropin deficiency, isolated and dwarfism, and has symptoms including large fontanelle/delayed fontanelle closure, face/facial anomalies and coarse face. 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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Sources:
48Orphanet, 26ICD10 via Orphanet
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Hypothyroidism Due to Deficient Transcription Factors Involved in Pituitary Development or Function, Aliases & Descriptions:

Name: Hypothyroidism Due to Deficient Transcription Factors Involved in Pituitary Development or Function 48


Classifications:

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


External Ids:

ICD10 via Orphanet26 E03.1

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

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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
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 disease9.9PROP1, HESX1, LHX3
6acth deficiency9.9POU1F1, HESX1, PROP1
7empty sella syndrome9.9PROP1, POU1F1, LHX3
8pituitary tumors9.9PROP1, POU1F1
9kallmann syndrome9.9PROP1, HESX1, LHX3
10growth hormone deficiency9.8POU1F1, HESX1, PROP1
11septo-optic dysplasia9.7PROP1, HESX1, POU1F1, LHX3
12hypothyroidism9.6LHX3, POU1F1, HESX1, PROP1
13short stature9.5LHX4, POU1F1, HESX1, PROP1
14pituitary hypoplasia9.3PROP1, LHX3, LHX4, POU1F1, HESX1
15panhypopituitarism9.3LHX3, LHX4, POU1F1, HESX1, PROP1
16hypopituitarism9.3LHX3, LHX4, POU1F1, HESX1, PROP1
17holoprosencephaly9.3LHX3, 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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Symptoms:

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

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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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

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:

32
Pituitary

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:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053778.9LHX3, POU1F1, HESX1
2MP:00053898.9PROP1, POU1F1, LHX3
3MP:00053828.8HESX1, POU1F1, LHX3
4MP:00053888.6PROP1, HESX1, LHX4
5MP:00053767.8LHX3, LHX4, POU1F1, PROP1
6MP:00053797.7PROP1, HESX1, POU1F1, LHX4, LHX3
7MP:00036317.7LHX3, LHX4, POU1F1, HESX1, PROP1
8MP:00107687.6PROP1, HESX1, POU1F1, LHX4, 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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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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Sources:
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
1gnrh449.0PROP1, HESX1, LHX3
2acth448.6PROP1, HESX1, POU1F1

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/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:0215269.2LHX3, LHX4
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:0098878.8LHX3, LHX4
6negative regulation of apoptotic processGO:0430668.6PROP1, LHX4, LHX3

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:0036828.6POU1F1, HESX1, PROP1
3sequence-specific DNA bindingGO:0435657.9LHX4, POU1F1, HESX1, LHX3
4sequence-specific DNA binding transcription factor activityGO:0037007.5LHX3, PROP1, HESX1, POU1F1, LHX4

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

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  • Antibodies
  • Proteins
  • Lysates

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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet