DIAMOND-BLACKFAN ANEMIA 6

General Information (adopted from Orphanet):

Synonyms, Signs: AASE SYNDROME
AASE-SMITH SYNDROME II
DBA6
Number of Symptoms 9
OrphanetNr:
OMIM Id: 612561
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000204) Cleft upper lip Common [HPO:probinson] 19061985 IBIS 193 / 7739
2
(HPO:0000175) Cleft palate Common [HPO:probinson] 19061985 IBIS 349 / 7739
3
(HPO:0000347) Micrognathia Common [HPO:probinson] 19061985 IBIS 426 / 7739
4
(HPO:0001631) Atria septal defect 3/20 [HPO:probinson] 19061985 IBIS 274 / 7739
5
(HPO:0005518) Erythrocyte macrocytosis 19061985 IBIS 13 / 7739
6
(HPO:0001972) Macrocytic anemia 19061985 IBIS 26 / 7739
7
(HPO:0011904) Persistence of hemoglobin F Common [HPO:probinson] 19061985 IBIS 5 / 7739
8
(HPO:0001199) Triphalangeal thumb 8/20 [HPO:probinson] 19061985 IBIS 56 / 7739
9
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Aase and Smith (1969) observed 2 brothers with congenital anemia and triphalangeal thumbs. Ventricular septal defect was thought to be present in 1 brother. Alter (1978), Gorlin et al. (1990), and Hurst et al. (1991) considered the syndrome ...
Molecular genetics OMIM Gazda et al. (2008) screened 196 probands with Diamond-Blackfan anemia for mutations in 25 genes encoding ribosomal proteins and identified 15 different mutations in the RPL5 gene in 18 probands and 6 additional family members (see, e.g., 603634.0001-603634.0006); ...