MCID: HYP488
MIFTS: 28

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

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

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

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Sources:
51Orphanet, 28ICD10 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 51


Classifications:



External Ids:

Orphanet51 226307
ICD10 via Orphanet28 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 cutaneous mastocytosis and hypothryoidism, congenital, nongoitrous 4, 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 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
Hypothyroidism Due to Tsh Receptor Mutations 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 16)
idRelated DiseaseScoreTop Affiliating Genes
1cutaneous mastocytosis10.0POU1F1, PROP1
2hypothryoidism, congenital, nongoitrous 49.9POU1F1, PROP1
3appendiceal neoplasm9.9LHX3, PROP1
4postherpetic neuralgia9.8POU1F1, PROP1
5mesocardia9.7HESX1, LHX4, POU1F1
6epidural spinal canal angiolipoma9.6HESX1, LHX3, PROP1
7aortic valve atresia9.6HESX1, LHX4, POU1F1, PROP1
8septooptic dysplasia9.5HESX1, LHX3, POU1F1, PROP1
9acute myeloid leukemia, flt3-related9.5HESX1, LHX3, POU1F1, PROP1
10telangiectatic glomangioma9.4HESX1, LHX3, LHX4, POU1F1
11inherited predisposition to essential thrombocythemia9.3HESX1, LHX3, LHX4, POU1F1, PROP1
12complete lcat deficiency9.3HESX1, LHX3, LHX4, POU1F1, PROP1
13pituitary hormone deficiency, combined, 29.3HESX1, LHX3, LHX4, POU1F1, PROP1
14pituitary adenoma, growth hormone-secreting 29.3HESX1, LHX3, LHX4, POU1F1, PROP1
15pituitary infarct9.3HESX1, LHX3, LHX4, POU1F1, PROP1
16hypopyon9.3HESX1, 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 for Hypothyroidism Due to Deficient Transcription Factors Involved...

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Symptoms:

 51 (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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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:

33
Pituitary, 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:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053778.9HESX1, LHX3, POU1F1
2MP:00053828.8HESX1, LHX3, POU1F1
3MP:00107687.5HESX1, LHX3, LHX4, POU1F1, PROP1
4MP:00053797.5HESX1, 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
1nucleusGO: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:

idNameGO IDScoreTop Affiliating Genes
1somatotropin secreting cell differentiationGO:006012610.2POU1F1, PROP1
2adenohypophysis developmentGO:002198410.2POU1F1, PROP1
3organ morphogenesisGO:00098878.9LHX3, LHX4, PROP1
4transcription, DNA-templatedGO:00063518.0HESX1, LHX3, LHX4, POU1F1
5regulation of transcription, DNA-templatedGO:00063557.5HESX1, LHX3, LHX4, POU1F1, 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:00080229.4HESX1, PROP1
2chromatin bindingGO:00036828.7HESX1, POU1F1, PROP1
3DNA bindingGO:00036777.5HESX1, LHX3, LHX4, POU1F1, PROP1
4sequence-specific DNA bindingGO:00435657.5HESX1, LHX3, LHX4, POU1F1, PROP1

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

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet