MCID: HYP488
MIFTS: 26

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:
30ICD10 via Orphanet, 53Orphanet
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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 53

Characteristics:

Orphanet epidemiological data:

53

Classifications:



External Ids:

Orphanet53 ORPHA226307
ICD10 via Orphanet30 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 craniofacial and hearing/vestibular/ear.

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

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

 63 53 (show all 24)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the fontanelles or cranial sutures63 hallmark (90%) HP:0000235
2 coarse facial features63 53 hallmark (90%) Very frequent (99-80%) HP:0000280
3 hypothyroidism63 53 hallmark (90%) Very frequent (99-80%) HP:0000821
4 muscular hypotonia63 53 hallmark (90%) Very frequent (99-80%) HP:0001252
5 abnormality of the liver63 hallmark (90%) HP:0001392
6 umbilical hernia63 53 hallmark (90%) Very frequent (99-80%) HP:0001537
7 constipation63 53 hallmark (90%) Very frequent (99-80%) HP:0002019
8 sleep disturbance63 53 hallmark (90%) Very frequent (99-80%) HP:0002360
9 aplasia/hypoplasia of the abdominal wall musculature63 hallmark (90%) HP:0010318
10 oral cleft63 53 typical (50%) Frequent (79-30%) HP:0000202
11 anterior hypopituitarism63 typical (50%) HP:0000830
12 short stature63 53 typical (50%) Frequent (79-30%) HP:0004322
13 cognitive impairment63 typical (50%) HP:0100543
14 septo-optic dysplasia63 53 typical (50%) Frequent (79-30%) HP:0100842
15 large fontanelles53 Very frequent (99-80%)
16 abnormality of the face53 Very frequent (99-80%)
17 abnormality of the hypothalamus-pituitary axis53 Frequent (79-30%)
18 jaundice53 Very frequent (99-80%)
19 intellectual disability53 Frequent (79-30%)
20 global developmental delay53 Frequent (79-30%)
21 abdominal distention53 Very frequent (99-80%)
22 central hypothyroidism53 Frequent (79-30%)
23 feeding difficulties53 Very frequent (99-80%)
24 fatigue53 Very frequent (99-80%)

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:

35
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:

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053829.4HESX1, LHX3, POU1F1
2MP:00053779.4HESX1, LHX3, POU1F1
3MP:00053798.3HESX1, LHX3, LHX4, POU1F1, PROP1
4MP:00107688.3HESX1, LHX3, LHX4, POU1F1, PROP1
5MP:00036317.5HESX1, 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:00056679.1LHX3, 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:00080459.5LHX3, LHX4
5dorsal/ventral pattern formationGO:00099539.5LHX3, PROP1
6adenohypophysis developmentGO:00219849.4POU1F1, PROP1
7placenta developmentGO:00018909.3LHX3, LHX4
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:00080229.6HESX1, PROP1
2RNA polymerase II transcription factor bindingGO:00010859.4LHX3, POU1F1
3chromatin bindingGO:00036829.0HESX1, POU1F1, PROP1
4sequence-specific DNA bindingGO:00435657.7HESX1, LHX3, LHX4, POU1F1

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

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet