Dyskeratosis congenita

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We were unfortunately unable to download the information for this disease from OMIM.



Prevalence of clinical parameters (%)







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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%)
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List of symptoms



Symptom/sign Organ system Percent affected Pubmed id Added on(yyyy-mm-dd) Edit/add reference
Skin pigmentation changes integumentary 89 % 11054058 2012-01-24
Nail dystrophy integumentary 88 % 11054058 2012-01-24
Leucoplakia digestive 78 % 11054058 2012-01-24
Pancytopenia circulatory 76 % 11054058 2012-01-24
Epiphora integumentary 31 % 11054058 2012-01-24
Developmental delay nervous 25 % 11054058 2012-01-24
Pulmonary fibrosis respiratory 21 % 11054058 2012-01-24
Short stature multi 20 % 11054058 2012-01-24
Dental caries digestive 17 % 11054058 2012-01-24
Oesophageal stricture digestive 17 % 11054058 2012-01-24
Alopecia integumentary 16 % 11054058 2012-01-24
Graying of hair integumentary 16 % 11054058 2012-01-24
Hyperhidrosis integumentary 15 % 11054058 2012-01-24
Cancer lymphatic 8 % 11054058 2012-01-24
Intrauterine growth retardation multi 8 % 11054058 2012-01-24
Ataxia nervous 7 % 11054058 2012-01-24
Hypogonadism reproductive 6 % 11054058 2012-01-24
Microcephaly nervous 6 % 11054058 2012-01-24
Urethral stricture urinary 5 % 11054058 2012-01-24
Osteoporosis skeletal 5 % 11054058 2012-01-24
Hearing loss nervous 1 % 11054058 2012-01-24



List of references:


Dyskeratosis congenita in all its forms.
I Dokal,



British journal of haematology - Sep 2000