Retinopathy - anemia- central nervous system anomalies

General Information (adopted from Orphanet):

Synonyms, Signs: EXUDATIVE RETINOPATHY WITH BONE MARROW FAILURE
Revesz-DeBuse syndrome
Number of Symptoms 42
OrphanetNr: 3088
OMIM Id: 268130
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Rare constitutional medullar aplasia
 -Rare genetic disease
 -Rare hematologic disease
Retinal dystrophy
 -Rare eye disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000252) Microcephaly Very frequent [Orphanet] 832 / 7739
2
 (HPO:0000163) Abnormality of the oral cavity Very frequent [Orphanet] 37 / 7739
3
 (HPO:0002745) Oral leukoplakia 17 / 7739
4
 (HPO:0007898) Exudative retinopathy 3 / 7739
5
 (HPO:0000485) Megalocornea 26 / 7739
6
 (HPO:0000555) Leukocoria 5 / 7739
7
 (HPO:0000639) Nystagmus 555 / 7739
8
 (HPO:0008046) Abnormality of the retinal vasculature Very frequent [Orphanet] 41 / 7739
9
 (HPO:0000541) Retinal detachment Very frequent [Orphanet] 87 / 7739
10
 (HPO:0001276) Hypertonia 317 / 7739
11
 (HPO:0001263) Global developmental delay 853 / 7739
12
 (HPO:0001251) Ataxia 413 / 7739
13
 (HPO:0002344) Progressive neurologic deterioration 27 / 7739
14
 (HPO:0005849) Diffuse cerebral calcification 9 / 7739
15
 (HPO:0005671) Bilateral intracranial calcifications 9 / 7739
16
 (HPO:0002514) Cerebral calcification 89 / 7739
17
 (HPO:0001622) Premature birth Very frequent [Orphanet] 100 / 7739
18
 (HPO:0001511) Intrauterine growth retardation Very frequent [Orphanet] 358 / 7739
19
 (HPO:0001510) Growth delay 295 / 7739
20
 (HPO:0001597) Abnormality of the nail Very frequent [Orphanet] 115 / 7739
21
 (HPO:0002213) Fine hair Very frequent [Orphanet] 77 / 7739
22
 (HPO:0001803) Nail pits 17 / 7739
23
 (HPO:0001006) Hypotrichosis Very frequent [Orphanet] 219 / 7739
24
 (HPO:0008070) Sparse hair 94 / 7739
25
 (HPO:0008404) Nail dystrophy 89 / 7739
26
 (HPO:0008402) Ridged fingernail 2 / 7739
27
 (HPO:0007617) Fine, reticulate skin pigmentation 1 / 7739
28
 (HPO:0001933) Subcutaneous hemorrhage Very frequent [Orphanet] 50 / 7739
29
 (HPO:0001903) Anemia Very frequent [Orphanet] 289 / 7739
30
 (HPO:0001874) Abnormality of neutrophils Very frequent [Orphanet] 47 / 7739
31
 (HPO:0001915) Aplastic anemia 16 / 7739
32
 (HPO:0011875) Abnormal platelet morphology Very frequent [Orphanet] 8 / 7739
33
 (HPO:0005528) Bone marrow hypocellularity 31 / 7739
34
 (HPO:0001873) Thrombocytopenia Very frequent [Orphanet] 224 / 7739
35
 (HPO:0001939) Abnormality of metabolism/homeostasis 328 / 7739
36
 (HPO:0003220) Abnormality of chromosome stability 98 / 7739
37
 (HPO:0002334) Abnormality of the cerebellar vermis Very frequent [Orphanet] 137 / 7739
38
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
39
 (HPO:0003745) Sporadic 131 / 7739
40
 (OMIM) Shortened telomeres 9 / 7739
41
 (OMIM) Bilateral subretinal masses 1 / 7739
42
 (HPO:0001321) Cerebellar hypoplasia 114 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Revesz et al. (1992) reported the case of a Sudanese male infant who was found to have bilateral exudative retinopathy at 6 months of age. A month later, severe aplastic anemia was found, which led to the child's ...
Molecular genetics OMIM In a patient with Revesz syndrome, Savage et al. (2008) identified a heterozygous mutation in the gene encoding TRF1-interacting nuclear factor-2 (TINF2; 604319.0002), a component of the shelterin telomere protection complex. His unaffected parents and 1 sister had ...