MCID: HYP488
MIFTS: 26

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

Categories: Endocrine diseases, Rare diseases, Genetic diseases, Immune diseases

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

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 56

Characteristics:

Orphanet epidemiological data:

56

Classifications:

Orphanet: 56  
Rare endocrine diseases


External Ids:

Orphanet 56 ORPHA226307
ICD10 via Orphanet 34 E03.1

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

MalaCards based summary : Hypothyroidism Due to Deficient Transcription Factors Involved in Pituitary Development or Function is related to potter's syndrome and mental retardation, x-linked syndromic, christianson type, and has symptoms including oral cleft, large fontanelles and coarse facial features. An important gene associated with Hypothyroidism Due to Deficient Transcription Factors Involved in Pituitary Development or Function is HESX1 (HESX Homeobox 1). Affiliated tissues include pituitary and hypothalamus, and related phenotypes are endocrine/exocrine gland and mortality/aging

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

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
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 20)
id Related Disease Score Top Affiliating Genes
1 potter's syndrome 10.0 LHX3 PROP1
2 mental retardation, x-linked syndromic, christianson type 9.9 POU1F1 PROP1
3 microvascular complications of diabetes 3 9.9 HESX1 POU1F1
4 caudal regression syndrome 9.9 POU1F1 PROP1
5 epidural neoplasm 9.8 HESX1 LHX3 PROP1
6 cholesterol embolism 9.8 POU1F1 PROP1
7 rheumatic encephalitis 9.8 POU1F1 PROP1
8 gynandroblastoma 9.7 HESX1 POU1F1
9 plasmalogens synthesis deficiency isolated 9.7 HESX1 LHX4 POU1F1
10 shaver's disease 9.6 HESX1 LHX3 POU1F1 PROP1
11 adult i blood group with or without congenital cataract 9.5 HESX1 LHX3 POU1F1 PROP1
12 congenital amputation 9.5 HESX1 LHX4 POU1F1 PROP1
13 l-cell glucagon-like peptide producing tumor 9.5 HESX1 LHX3 LHX4 POU1F1
14 idiopathic hypersomnia without long sleep time 9.3 HESX1 LHX3 LHX4 POU1F1 PROP1
15 early-onset glaucoma 9.3 HESX1 LHX3 LHX4 POU1F1 PROP1
16 aminoacylase 1 deficiency 9.3 HESX1 LHX3 LHX4 POU1F1 PROP1
17 ossification of the posterior longitudinal ligament of spine 9.3 HESX1 LHX3 LHX4 POU1F1 PROP1
18 mucopolysaccharidosis type vi 9.3 HESX1 LHX3 LHX4 POU1F1 PROP1
19 urethra clear cell adenocarcinoma 9.3 HESX1 LHX3 LHX4 POU1F1 PROP1
20 cervix squamous papilloma 9.3 HESX1 LHX3 LHX4 POU1F1 PROP1

Graphical network of the top 20 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 in...

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

56 32 (show all 19)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 oral cleft 56 32 Frequent (79-30%) HP:0000202
2 large fontanelles 56 32 Very frequent (99-80%) HP:0000239
3 coarse facial features 56 32 Very frequent (99-80%) HP:0000280
4 abnormality of the hypothalamus-pituitary axis 56 32 Frequent (79-30%) HP:0000864
5 jaundice 56 32 Very frequent (99-80%) HP:0000952
6 intellectual disability 56 32 Frequent (79-30%) HP:0001249
7 muscular hypotonia 56 32 Very frequent (99-80%) HP:0001252
8 global developmental delay 56 32 Frequent (79-30%) HP:0001263
9 umbilical hernia 56 32 Very frequent (99-80%) HP:0001537
10 constipation 56 32 Very frequent (99-80%) HP:0002019
11 sleep disturbance 56 32 Very frequent (99-80%) HP:0002360
12 abdominal distention 56 32 Very frequent (99-80%) HP:0003270
13 short stature 56 32 Frequent (79-30%) HP:0004322
14 central hypothyroidism 56 32 Frequent (79-30%) HP:0011787
15 feeding difficulties 56 32 Very frequent (99-80%) HP:0011968
16 fatigue 56 32 Very frequent (99-80%) HP:0012378
17 septo-optic dysplasia 56 32 Frequent (79-30%) HP:0100842
18 abnormality of the face 56 Very frequent (99-80%)
19 hypothyroidism 56 Very frequent (99-80%)

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

44
id Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.65 LHX3 LHX4 POU1F1 PROP1 HESX1
2 mortality/aging MP:0010768 9.35 LHX3 LHX4 POU1F1 PROP1 HESX1
3 hearing/vestibular/ear MP:0005377 9.33 LHX3 POU1F1 HESX1
4 nervous system MP:0003631 9.02 LHX3 LHX4 POU1F1 PROP1 HESX1

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

Search Clinical Trials , 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 in...

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

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

39
Pituitary, Hypothalamus

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

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

Expression for Hypothyroidism Due to Deficient Transcription Factors Involved in...

Search GEO for disease gene expression data for Hypothyroidism Due to Deficient Transcription Factors Involved in Pituitary Development or Function.

Pathways for Hypothyroidism Due to Deficient Transcription Factors Involved in...

GO Terms for Hypothyroidism Due to Deficient Transcription Factors Involved in...

Cellular components related to Hypothyroidism Due to Deficient Transcription Factors Involved in Pituitary Development or Function according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 transcription factor complex GO:0005667 8.8 LHX3 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 13)
id Name GO ID Score Top Affiliating Genes
1 transcription, DNA-templated GO:0006351 9.83 HESX1 LHX3 LHX4 POU1F1
2 regulation of transcription, DNA-templated GO:0006355 9.8 HESX1 LHX3 LHX4 POU1F1 PROP1
3 negative regulation of transcription from RNA polymerase II promoter GO:0000122 9.69 HESX1 POU1F1 PROP1
4 transcription from RNA polymerase II promoter GO:0006366 9.67 LHX3 POU1F1 PROP1
5 negative regulation of apoptotic process GO:0043066 9.65 LHX3 LHX4 PROP1
6 dorsal/ventral pattern formation GO:0009953 9.46 LHX3 PROP1
7 placenta development GO:0001890 9.43 LHX3 LHX4
8 animal organ morphogenesis GO:0009887 9.43 LHX3 LHX4 PROP1
9 motor neuron axon guidance GO:0008045 9.37 LHX3 LHX4
10 adenohypophysis development GO:0021984 9.32 POU1F1 PROP1
11 somatotropin secreting cell differentiation GO:0060126 9.16 POU1F1 PROP1
12 medial motor column neuron differentiation GO:0021526 8.96 LHX3 LHX4
13 pituitary gland development GO:0021983 8.8 HESX1 LHX3 POU1F1

Molecular functions related to Hypothyroidism Due to Deficient Transcription Factors Involved in Pituitary Development or Function according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 chromatin binding GO:0003682 9.5 HESX1 POU1F1 PROP1
2 protein C-terminus binding GO:0008022 9.37 HESX1 PROP1
3 DNA binding GO:0003677 9.35 HESX1 LHX3 LHX4 POU1F1 PROP1
4 RNA polymerase II core promoter proximal region sequence-specific DNA binding GO:0000978 9.33 HESX1 LHX3 POU1F1
5 RNA polymerase II transcription factor binding GO:0001085 9.26 LHX3 POU1F1
6 sequence-specific DNA binding GO:0043565 9.02 HESX1 LHX3 LHX4 POU1F1 PROP1

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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