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Revesz syndrome

Disease Export to PDF
Name:
Revesz syndrome
Description:
Revesz syndrome is a rare severe phenotypic variant of dyskeratosis congenita (DC; see this term) with an onset in early childhood, characterized by features of DC (e.g. skin hyper/hypopigmentation, nail dystrophy, oral leukoplakia, high risk of bone marrow failure (BMF) and cancer, developmental delay sparse and fine hair) in conjunction with bilateral exudative retinopathy, and intracranial calcifications.
ORPHAcode:
3088
Synonyms:
Dyskeratosis congenita with bilateral exudative retinopathy
Retinopathy-anemia-central nervous system anomalies syndrome
Revesz-DeBuse syndrome
XREF(s):
Orphanet
OMIM
ICD-10
Analyte(s):
TINF2
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14
  • Dyskeratosis Congenita (18 genes) - KUL
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ACD 95.00 0 NM_001082486.1/ interpretable range CS1>95%
    CTC1 95.00 0 NM_025099.5/ interpretable range CS1>95%
    DKC1 95.00 0 NM_001363.4/ interpretable range CS1>95%
    GRHL2 95.00 0 NM_024915.3/ interpretable range CS1>95%
    LIG4 95.00 0 NM_002312.3/ interpretable range CS1>95%
    TNIP1 95.00 0 NM_138386.2/ interpretable range CS1>95%
    NHP2 95.00 0 NM_017838.3/ interpretable range CS1>95%
    NOP10 95.00 0 NM_018648.3/ interpretable range CS1>95%
    PARN 95.00 0 NM_002582.3/ interpretable range CS1>95%
    POT1 95.00 0 NM_015450.2/ interpretable range CS1>95%
    RTEL1 95.00 0 NM_032957.4/ interpretable range CS1>95%
    STN1 95.00 0 NM_024928.4/ interpretable range CS1>95%
    TERC 95.00 0 NR_001566.1/ interpretable range CS1>95%
    TERT 95.00 0 NM_198253.2/ interpretable range CS1>90%
    TINF2 95.00 0 NM_001099274.1/ interpretable range CS1>95%
    USB1 95.00 0 NM_024598.3/ interpretable range CS1>95%
    WRAP53 95.00 0 NM_018081.2/ interpretable range CS1>95%
    NAF1 95.00 0 NM_138386.3/ interpretable range CS1>95%