DIAMOND-BLACKFAN ANEMIA 11

General Information (adopted from Orphanet):

Synonyms, Signs: DBA11
Number of Symptoms 13
OrphanetNr:
OMIM Id: 614900
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000104) Renal agenesis 68 / 7739
2
(HPO:0000175) Cleft palate 349 / 7739
3
(HPO:0000492) Abnormality of the eyelid 41 / 7739
4
(HPO:0000402) Stenosis of the external auditory canal 22 / 7739
5
(HPO:0000413) Atresia of the external auditory canal 32 / 7739
6
(HPO:0009777) Absent thumb 31 / 7739
7
(HPO:0006368) Forearm reduction defects 2 / 7739
8
(HPO:0002984) Hypoplasia of the radius 44 / 7739
9
(HPO:0003022) Hypoplasia of the ulna 40 / 7739
10
(HPO:0004322) Short stature 1232 / 7739
11
(HPO:0001647) Bicuspid aortic valve 34 / 7739
12
(HPO:0001875) Neutropenia 83 / 7739
13
(HPO:0001903) Anemia obligate [HPO:skoehler] 289 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Gazda et al. (2012) studied a 3.5-year-old girl with Diamond-Blackfan anemia who was born with isolated cleft palate, absent external auditory meatus on the right and a narrowed meatus on the left, incomplete lower left eyelid, bicuspid aortic ...
Molecular genetics OMIM In a cohort of 96 families with Diamond-Blackfan anemia, the majority of whom had been included in previous reports (Gazda et al., 2006, 2008; Farrar et al., 2008; Doherty et al., 2010) and all of whom were negative ...