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...

About this section
Sources:
31ICD10 via Orphanet, 54Orphanet
See all MalaCards sources

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 54

Characteristics:

Orphanet epidemiological data:

54

Classifications:



External Ids:

Orphanet54 ORPHA226307
ICD10 via Orphanet31 E03.1

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

About this section
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...

About this section

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 & Phenotypes for Hypothyroidism Due to Deficient Transcription Factors Involved...

About this section

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

 64 54 (show all 24)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the fontanelles or cranial sutures64 hallmark (90%) HP:0000235
2 coarse facial features64 54 hallmark (90%) Very frequent (99-80%) HP:0000280
3 hypothyroidism64 54 hallmark (90%) Very frequent (99-80%) HP:0000821
4 muscular hypotonia64 54 hallmark (90%) Very frequent (99-80%) HP:0001252
5 abnormality of the liver64 hallmark (90%) HP:0001392
6 umbilical hernia64 54 hallmark (90%) Very frequent (99-80%) HP:0001537
7 constipation64 54 hallmark (90%) Very frequent (99-80%) HP:0002019
8 sleep disturbance64 54 hallmark (90%) Very frequent (99-80%) HP:0002360
9 aplasia/hypoplasia of the abdominal wall musculature64 hallmark (90%) HP:0010318
10 oral cleft64 54 typical (50%) Frequent (79-30%) HP:0000202
11 anterior hypopituitarism64 typical (50%) HP:0000830
12 short stature64 54 typical (50%) Frequent (79-30%) HP:0004322
13 cognitive impairment64 typical (50%) HP:0100543
14 septo-optic dysplasia64 54 typical (50%) Frequent (79-30%) HP:0100842
15 large fontanelles54 Very frequent (99-80%)
16 abnormality of the face54 Very frequent (99-80%)
17 abnormality of the hypothalamus-pituitary axis54 Frequent (79-30%)
18 jaundice54 Very frequent (99-80%)
19 intellectual disability54 Frequent (79-30%)
20 global developmental delay54 Frequent (79-30%)
21 abdominal distention54 Very frequent (99-80%)
22 central hypothyroidism54 Frequent (79-30%)
23 feeding difficulties54 Very frequent (99-80%)
24 fatigue54 Very frequent (99-80%)

MGI Mouse Phenotypes related to Hypothyroidism Due to Deficient Transcription Factors Involved in Pituitary Development or Function according to GeneCards Suite gene sharing:

41
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

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

About this section

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...

About this section

Anatomical Context for Hypothyroidism Due to Deficient Transcription Factors Involved...

About this section

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

36
Pituitary, Hypothalamus, Liver

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

About this section

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

About this section

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

About this section
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...

About this section

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

About this section

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:00056678.7LHX3, POU1F1, PROP1
2nucleusGO:00056348.1HESX1, 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
1adenohypophysis developmentGO:002198410.2POU1F1, PROP1
2dorsal/ventral pattern formationGO:00099539.9LHX3, PROP1
3pituitary gland developmentGO:00219839.8LHX3, POU1F1
4medial motor column neuron differentiationGO:00215269.8LHX3, LHX4
5motor neuron axon guidanceGO:00080459.8LHX3, LHX4
6placenta developmentGO:00018909.7LHX3, LHX4
7somatotropin secreting cell differentiationGO:00601269.5POU1F1, PROP1
8animal organ morphogenesisGO:00098879.3LHX3, LHX4, PROP1
9negative regulation of apoptotic processGO:00430669.3LHX3, LHX4, PROP1
10positive regulation of transcription from RNA polymerase II promoterGO:00459448.7LHX3, 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:000802210.2HESX1, PROP1
2RNA polymerase II transcription factor bindingGO:00010859.8LHX3, POU1F1
3chromatin bindingGO:00036829.7HESX1, POU1F1, PROP1
4sequence-specific DNA bindingGO:00435658.0HESX1, LHX3, LHX4, POU1F1

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

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet