Natural killer cell and glucocorticoid deficiency with DNA repair defect |
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Prevalence (%) of clinical parameters based on data from 1 references describing 10 individuals
Add new symptom/sign to this disease
| Pubmed id number as a reference | Organ system affected | ||
| Number of patients in the reference | Percent affected patients (Between 0 and 1, eg. 0.1 = 10%) | ||
| Please provide your name and contact information as a reference | |||
| Name | Institute | Phone number | Email address |
List of symptoms
| Symptom/sign | Organ system | Percent affected | Pubmed id | Added on(yyyy-mm-dd) | Edit/add reference |
| Failure to thrive | multi | 100 % | 22499342 | 2016-08-18 | |
| Hyperpigmentation | integumentary | 100 % | 22499342 | 2016-08-18 | |
| Short stature | skeletal | 100 % | 22499342 | 2016-08-18 | |
| NK-cell reduction | circulatory | 100 % | 22499342 | 2016-08-18 | |
| Clinodactyly | skeletal | 100 % | 22499342 | 2016-08-18 | |
| Increased serum ACTH levels | circulatory | 100 % | 22499342 | 2016-08-18 | |
| Anemia | circulatory | 83 % | 22499342 | 2016-08-18 | |
| Hypoglycemia | circulatory | 67 % | 22499342 | 2016-08-18 | |
| Decreased growth hormone | circulatory | 50 % | 22499342 | 2016-08-18 | |
| Intrauterine growth retardation | multi | 50 % | 22499342 | 2016-08-18 |
List of references:
Recessive mutations in MCM4/PRKDC cause a novel syndrome involving a primary immunodeficiency and a disorder of DNA repair.
Jillian P Casey, Michael Nobbs, Paul McGettigan, Sallyann Lynch, Sean Ennis,
Journal of medical genetics - Apr 2012