DIAMOND-BLACKFAN ANEMIA 1

General Information (adopted from Orphanet):

Synonyms, Signs: ERYTHROGENESIS IMPERFECTA
AASE SYNDROME
RED CELL APLASIA, PURE, HEREDITARY
ANEMIA, CONGENITAL HYPOPLASTIC, OF BLACKFAN AND DIAMOND
AREGENERATIVE ANEMIA, CHRONIC CONGENITAL
AASE-SMITH SYNDROME II
ANEMIA, CONGENITAL ERYTHROID HYPOPLASTIC
BLACKFAN-DIAMOND SYNDROME
BDS
DBA
DBA1
Number of Symptoms 49
OrphanetNr:
OMIM Id: 105650
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset: Infantile onset
[Omim]

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0000278) Retrognathia 100 / 7739
2
 (HPO:0000465) Webbed neck 81 / 7739
3
 (HPO:0000457) Depressed nasal ridge 85 / 7739
4
 (HPO:0000175) Cleft palate 349 / 7739
5
 (HPO:0002697) Parietal foramina 12 / 7739
6
 (HPO:0000347) Micrognathia 426 / 7739
7
 (HPO:0000494) Downslanted palpebral fissures 328 / 7739
8
 (HPO:0000252) Microcephaly 832 / 7739
9
 (HPO:0000470) Short neck 345 / 7739
10
 (HPO:0000316) Hypertelorism 644 / 7739
11
 (HPO:0000218) High palate 356 / 7739
12
 (HPO:0000270) Delayed cranial suture closure 33 / 7739
13
 (HPO:0000204) Cleft upper lip 193 / 7739
14
 (HPO:0000486) Strabismus 576 / 7739
15
 (HPO:0001249) Intellectual disability 1089 / 7739
16
 (HPO:0009944) Partial duplication of thumb phalanx 7 / 7739
17
 (HPO:0008475) Hypoplastic sacral vertebrae 2 / 7739
18
 (HPO:0009778) Short thumb 50 / 7739
19
 (HPO:0009611) Bifid distal phalanx of the thumb 15 / 7739
20
 (HPO:0000946) Hypoplastic ilia 21 / 7739
21
 (HPO:0009777) Absent thumb 31 / 7739
22
 (HPO:0008437) Bifid thoracic vertebrae 2 / 7739
23
 (HPO:0008447) Hypoplastic coccygeal vertebrae 2 / 7739
24
 (HPO:0000878) 11 pairs of ribs 19 / 7739
25
 (HPO:0002669) Osteosarcoma 12 / 7739
26
 (HPO:0000774) Narrow chest 167 / 7739
27
 (HPO:0001622) Premature birth 100 / 7739
28
 (HPO:0003003) Colon cancer 20 / 7739
29
 (HPO:0004322) Short stature 1232 / 7739
30
 (HPO:0001508) Failure to thrive 454 / 7739
31
 (HPO:0008883) Mild intrauterine growth retardation 2 / 7739
32
 (HPO:0000980) Pallor 52 / 7739
33
 (HPO:0001629) Ventricular septal defect 316 / 7739
34
 (HPO:0001631) Atria septal defect 274 / 7739
35
 (HPO:0001680) Coarctation of aorta 57 / 7739
36
 (HPO:0001896) Reticulocytopenia 12 / 7739
37
 (HPO:0001894) Thrombocytosis 16 / 7739
38
 (HPO:0001873) Thrombocytopenia 224 / 7739
39
 (HPO:0002863) Myelodysplasia 30 / 7739
40
 (OMIM) Mild radial hypoplasia 1 / 7739
41
 (OMIM) Increased myeloid to erythroid ratio (M:E ratio) 10:1-200:1 1 / 7739
42
 (OMIM) Neutropenia, mild 1 / 7739
43
 (OMIM) Clavicle agenesis 1 / 7739
44
 (OMIM) Elevated fetal hemoglobin 2 / 7739
45
 (OMIM) Anemia, congenital hypoplastic, moderate-severe (normochromic, macrocytic) 1 / 7739
46
 (OMIM) Absent radial pulse 1 / 7739
47
 (OMIM) Presence of i erythrocyte antigen 1 / 7739
48
 (HPO:0001199) Triphalangeal thumb 56 / 7739
49
 (OMIM) Elevated erythrocyte adenine deaminase (eADA) 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Diamond-Blackfan anemia (DBA) is an inherited red blood cell aplasia that usually presents in the first year of life. The main features are normochromic macrocytic anemia, reticulocytopenia, and nearly absent erythroid progenitors in the bone marrow. Patients show ...
Clinical Description OMIM Diamond et al. (1961) observed triphalangeal thumbs in 1 of 30 patients with congenital erythroid hypoplastic anemia. Alter (1978) pointed out that triphalangeal thumbs occurred in 6 of 133 cases of congenital hypoplastic anemia. In all, 45 of ...
Genotype-Phenotype Correlations OMIM Gazda et al. (2008) screened 196 probands with DBA for mutations in 25 genes encoding ribosomal proteins and identified mutations in the RPL5 (603634), RPL11 (604175), and RPS7 (603658) genes that segregated with disease in multiplex families and ...
Molecular genetics OMIM In 10 of 40 probands with DBA, Draptchinskaia et al. (1999) identified 9 different heterozygous mutations in the RPS19 gene (see, e.g., 603474.0001-603474.0002). Twenty-one patients had a family history of the disorder and 19 were sporadic cases. Six ...
Population genetics OMIM In France, Willig et al. (1999) estimated the incidence of DBA to be 7.3 cases per million live births.

Landowski et al. (2013) stated that the incidence of DBA is estimated to be 5 to 7 ...