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congenital nongoitrous hypothyroidism 4
Summary
- Synonym
-
- CHNG4
- isolated thyrotropin deficiency
- Definition
- A congenital hypothyroidism characterized by a permanent thyroid deficiency present at birth and resulting from deficiency in TSH synthesis that has_material_basis_in homozygous mutation in the TSHB gene on chromosome 1p13.
- Super Class
- autosomal recessive disease congenital hypothyroidism
External Links
- Disease Ontology
- DOID:0070123
- Mondo Disease Ontology
- OMIM
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 43 | ACHE | acetylcholinesterase (Yt blood group) | |
| 427 | ASAH1 | N-acylsphingosine amidohydrolase 1 | |
| 1636 | ACE | angiotensin I converting enzyme | |
| 1946 | EFNA5 | ephrin A5 | |
| 2026 | ENO2 | enolase 2 | |
| 2539 | G6PD | glucose-6-phosphate dehydrogenase | |
| 145173 | B3GLCT | beta 3-glucosyltransferase | |
| 148738 | HJV | hemojuvelin BMP co-receptor |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P09104 | Gamma-enolase | |
| P11413 | Glucose-6-phosphate 1-dehydrogenase | |
| P12821 | Angiotensin-converting enzyme | |
| P22303 | Acetylcholinesterase | |
| P52803 | Ephrin-A5 | |
| Q13510 | Acid ceramidase | |
| Q6Y288 | Beta-1,3-glucosyltransferase | |
| Q6ZVN8 | Hemojuvelin |
