CORTICOTROPIN-RELEASING HORMONE
General Information (adopted from Orphanet):
Synonyms, Signs: |
CORTICOTROPIN-RELEASING FACTOR CRF CRH |
Number of Symptoms | 8 |
OrphanetNr: | |
OMIM Id: |
122560
|
ICD-10: |
|
UMLs: |
|
MeSH: |
|
MedDRA: |
|
Snomed: |
|
Prevalence, inheritance and age of onset:
Prevalence: | No data available. |
Inheritance: |
Autosomal recessive inheritance [Omim] |
Age of onset: |
|
Disease classification (adopted from Orphanet):
Parent Diseases: | No data available. |
Symptom Information:
|
(HPO:0001999) | Abnormal facial shape | 169 / 7739 | ||||
|
(HPO:0001250) | Seizures | 1245 / 7739 | ||||
|
(HPO:0008240) | Secondary growth hormone deficiency | 1 / 7739 | ||||
|
(HPO:0000846) | Adrenal insufficiency | 24 / 7739 | ||||
|
(HPO:0001438) | Abnormality of the abdomen | 28 / 7739 | ||||
|
(HPO:0001943) | Hypoglycemia | 131 / 7739 | ||||
|
(HPO:0001274) | Agenesis of corpus callosum | 142 / 7739 | ||||
|
(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 |
Associated genes:
ClinVar (via SNiPA)
Gene symbol | Variation | Clinical significance | Reference |
---|