Blackfan-Diamond anemia

General Information (adopted from Orphanet):

Synonyms, Signs: Congenital pure red cell aplasia
Congenital hypoplastic anemia, Blackfan-Diamond type
Aase-Smith II syndrome
Aase syndrome
Congenital PRCA
Number of Symptoms 61
OrphanetNr: 124
OMIM Id: 105650
606129
606164
610629
612527
612528
612561
612562
612563
613308
613309
614900
615550
ICD-10: D61.0
UMLs: C1260899
MeSH: D029503
MedDRA:
Snomed: 88854002

Prevalence, inheritance and age of onset:

Prevalence: 0.67 of 100 000 [Orphanet]
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Neonatal
Infancy
Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Disorder of purine metabolism
 -Rare genetic disease
Orofacial clefting syndrome
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare maxillo-facial surgical disease
 -Rare otorhinolaryngologic disease
Polymalformative genetic syndrome with increased risk of developing cancer
 -Rare genetic disease
 -Rare oncologic disease
Rare constitutional medullar aplasia
 -Rare genetic disease
 -Rare hematologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000078) Abnormality of the genital system Frequent [Orphanet] 33 / 7739
2
 (HPO:0000079) Abnormality of the urinary system Frequent [Orphanet] 88 / 7739
3
 (HPO:0000347) Micrognathia 426 / 7739
4
 (HPO:0000270) Delayed cranial suture closure 33 / 7739
5
 (HPO:0012471) Thick vermilion border Occasional [Orphanet] 115 / 7739
6
 (HPO:0000470) Short neck 345 / 7739
7
 (HPO:0000465) Webbed neck 81 / 7739
8
 (HPO:0000316) Hypertelorism 644 / 7739
9
 (HPO:0000457) Depressed nasal ridge Occasional [Orphanet] 85 / 7739
10
 (HPO:0000218) High palate 356 / 7739
11
 (HPO:0000174) Abnormality of the palate Frequent [Orphanet] 298 / 7739
12
 (HPO:0000252) Microcephaly 832 / 7739
13
 (HPO:0000204) Cleft upper lip 193 / 7739
14
 (HPO:0003196) Short nose Occasional [Orphanet] 264 / 7739
15
 (HPO:0002697) Parietal foramina 12 / 7739
16
 (HPO:0000494) Downslanted palpebral fissures 328 / 7739
17
 (HPO:0000278) Retrognathia 100 / 7739
18
 (HPO:0000175) Cleft palate 349 / 7739
19
 (HPO:0000486) Strabismus 576 / 7739
20
 (HPO:0001249) Intellectual disability rare [HPO:skoehler] 1089 / 7739
21
 (HPO:0002315) Headache Frequent [Orphanet] 175 / 7739
22
 (HPO:0008373) Puberty and gonadal disorders Frequent [Orphanet] 156 / 7739
23
 (HPO:0008447) Hypoplastic coccygeal vertebrae 2 / 7739
24
 (HPO:0009778) Short thumb 50 / 7739
25
 (HPO:0008475) Hypoplastic sacral vertebrae 2 / 7739
26
 (HPO:0008437) Bifid thoracic vertebrae 2 / 7739
27
 (HPO:0001155) Abnormality of the hand Frequent [Orphanet] 54 / 7739
28
 (HPO:0002984) Hypoplasia of the radius 44 / 7739
29
 (HPO:0000878) 11 pairs of ribs 19 / 7739
30
 (HPO:0002669) Osteosarcoma 12 / 7739
31
 (HPO:0009944) Partial duplication of thumb phalanx 7 / 7739
32
 (HPO:0000946) Hypoplastic ilia 21 / 7739
33
 (HPO:0009777) Absent thumb 31 / 7739
34
 (HPO:0000774) Narrow chest 167 / 7739
35
 (HPO:0001622) Premature birth 100 / 7739
36
 (HPO:0003003) Colon cancer 20 / 7739
37
 (HPO:0004325) Decreased body weight Very frequent [Orphanet] 492 / 7739
38
 (HPO:0001511) Intrauterine growth retardation 358 / 7739
39
 (HPO:0004322) Short stature Occasional [Orphanet] 1232 / 7739
40
 (HPO:0001508) Failure to thrive 454 / 7739
41
 (HPO:0000980) Pallor Very frequent [Orphanet] 52 / 7739
42
 (HPO:0001629) Ventricular septal defect 316 / 7739
43
 (HPO:0001680) Coarctation of aorta 57 / 7739
44
 (HPO:0011675) Arrhythmia Very frequent [Orphanet] 226 / 7739
45
 (HPO:0001631) Atria septal defect 274 / 7739
46
 (HPO:0001635) Congestive heart failure 232 / 7739
47
 (HPO:0001972) Macrocytic anemia Frequent [Orphanet] 26 / 7739
48
 (HPO:0002488) Acute leukemia Occasional [Orphanet] 29 / 7739
49
 (HPO:0001903) Anemia Very frequent [Orphanet] 289 / 7739
50
 (HPO:0001873) Thrombocytopenia 224 / 7739
51
 (HPO:0004810) Congenital hypoplastic anemia 4 / 7739
52
 (HPO:0001875) Neutropenia 83 / 7739
53
 (HPO:0001896) Reticulocytopenia 12 / 7739
54
 (HPO:0001894) Thrombocytosis 16 / 7739
55
 (HPO:0002863) Myelodysplasia 30 / 7739
56
 (HPO:0002664) Neoplasm Occasional [Orphanet] 111 / 7739
57
 (HPO:0001324) Muscle weakness Frequent [Orphanet] 859 / 7739
58
 (HPO:0003593) Infantile onset 249 / 7739
59
 (HPO:0001199) Triphalangeal thumb 56 / 7739
60
 (HPO:0030270) Elevated red cell adenosine deaminase activity 4 / 7739
61
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: