DBA11
MCID: DMN029
MIFTS: 23

Diamond-Blackfan Anemia 11 (DBA11)

Categories: Blood diseases, Bone diseases, Fetal diseases, Genetic diseases, Immune diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Diamond-Blackfan Anemia 11

MalaCards integrated aliases for Diamond-Blackfan Anemia 11:

Name: Diamond-Blackfan Anemia 11 56 73 29 13 6 71
Dba11 56 73
Anemia, Diamond-Blackfan, Type 11 39

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
good response to steroid treatment
one patient reported (last curated november 2012)


HPO:

31
diamond-blackfan anemia 11:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Diamond-Blackfan Anemia 11

OMIM : 56 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 growth retardation, and approximately 30 to 50% have craniofacial, upper limb, heart, and urinary system congenital malformations. The majority of patients have increased mean corpuscular volume, elevated erythrocyte adenosine deaminase activity, and persistence of hemoglobin F. However, some DBA patients do not exhibit these findings, and even in the same family, symptoms can vary between affected family members (summary by Landowski et al., 2013). For a discussion of genetic heterogeneity of Diamond-Blackfan anemia, see DBA1 (105650). (614900)

MalaCards based summary : Diamond-Blackfan Anemia 11, is also known as dba11. An important gene associated with Diamond-Blackfan Anemia 11 is RPL26 (Ribosomal Protein L26). Affiliated tissues include bone, bone marrow and heart, and related phenotypes are anemia and short stature

UniProtKB/Swiss-Prot : 73 Diamond-Blackfan anemia 11: A form of Diamond-Blackfan anemia, a congenital non-regenerative hypoplastic anemia that usually presents early in infancy. Diamond- Blackfan anemia is characterized by a moderate to severe macrocytic anemia, erythroblastopenia, and an increased risk of malignancy. 30 to 40% of Diamond-Blackfan anemia patients present with short stature and congenital anomalies, the most frequent being craniofacial (Pierre- Robin syndrome and cleft palate), thumb and urogenital anomalies.

Related Diseases for Diamond-Blackfan Anemia 11

Symptoms & Phenotypes for Diamond-Blackfan Anemia 11

Human phenotypes related to Diamond-Blackfan Anemia 11:

31 (show all 16)
# Description HPO Frequency HPO Source Accession
1 anemia 31 obligate (100%) HP:0001903
2 short stature 31 HP:0004322
3 cleft palate 31 HP:0000175
4 bone marrow hypocellularity 31 HP:0005528
5 bicuspid aortic valve 31 HP:0001647
6 neutropenia 31 HP:0001875
7 radioulnar synostosis 31 HP:0002974
8 stenosis of the external auditory canal 31 HP:0000402
9 atresia of the external auditory canal 31 HP:0000413
10 hypoplasia of the ulna 31 HP:0003022
11 hypoplasia of the radius 31 HP:0002984
12 renal agenesis 31 HP:0000104
13 absent thumb 31 HP:0009777
14 forearm reduction defects 31 HP:0006368
15 anemia of inadequate production 31 HP:0010972
16 abnormal eyelid morphology 31 HP:0000492

Symptoms via clinical synopsis from OMIM:

56
Growth Height:
short stature

Cardiovascular Heart:
bicuspid aortic valve

Head And Neck Mouth:
cleft palate, bilateral

Head And Neck Eyes:
incomplete lower eyelid, unilateral

Skeletal Hands:
absent thumb, bilateral
missing digits, bilateral

Hematology:
anemia
neutropenia
decreased bone marrow cellularity
decreased erythropoiesis

Genitourinary Kidneys:
renal agenesis, unilateral

Head And Neck Ears:
narrowed or absent external auditory meati

Skeletal Limbs:
hypoplasia or aplasia of radius, unilateral
radioulnar synostosis, unilateral

Clinical features from OMIM:

614900

Drugs & Therapeutics for Diamond-Blackfan Anemia 11

Search Clinical Trials , NIH Clinical Center for Diamond-Blackfan Anemia 11

Genetic Tests for Diamond-Blackfan Anemia 11

Genetic tests related to Diamond-Blackfan Anemia 11:

# Genetic test Affiliating Genes
1 Diamond-Blackfan Anemia 11 29 RPL26

Anatomical Context for Diamond-Blackfan Anemia 11

MalaCards organs/tissues related to Diamond-Blackfan Anemia 11:

40
Bone, Bone Marrow, Heart

Publications for Diamond-Blackfan Anemia 11

Articles related to Diamond-Blackfan Anemia 11:

# Title Authors PMID Year
1
Frameshift mutation in p53 regulator RPL26 is associated with multiple physical abnormalities and a specific pre-ribosomal RNA processing defect in diamond-blackfan anemia. 56 6
22431104 2012
2
Novel deletion of RPL15 identified by array-comparative genomic hybridization in Diamond-Blackfan anemia. 56
23812780 2013
3
Ribosomal protein genes RPS10 and RPS26 are commonly mutated in Diamond-Blackfan anemia. 56
20116044 2010
4
Diamond-Blackfan Anemia 6
20301769 2009
5
Ribosomal protein L5 and L11 mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patients. 56
19061985 2008
6
Abnormalities of the large ribosomal subunit protein, Rpl35a, in Diamond-Blackfan anemia. 56
18535205 2008
7
Ribosomal protein S24 gene is mutated in Diamond-Blackfan anemia. 56
17186470 2006

Variations for Diamond-Blackfan Anemia 11

ClinVar genetic disease variations for Diamond-Blackfan Anemia 11:

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 RPL26 NM_000987.5(RPL26):c.120_121del (p.Lys41fs)deletion Pathogenic 39740 rs397518451 17:8285508-8285509 17:8382190-8382191

Expression for Diamond-Blackfan Anemia 11

Search GEO for disease gene expression data for Diamond-Blackfan Anemia 11.

Pathways for Diamond-Blackfan Anemia 11

GO Terms for Diamond-Blackfan Anemia 11

Sources for Diamond-Blackfan Anemia 11

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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