MCID: DMN029
MIFTS: 21

Diamond-Blackfan Anemia 11

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

Aliases & Classifications for Diamond-Blackfan Anemia 11

MalaCards integrated aliases for Diamond-Blackfan Anemia 11:

Name: Diamond-Blackfan Anemia 11 53 71 28 13 69
Dba11 53 71

Characteristics:

OMIM:

53
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 : 53 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, and has symptoms including short stature, anemia and cleft palate. An important gene associated with Diamond-Blackfan Anemia 11 is RPL26 (Ribosomal Protein L26). Affiliated tissues include bone, bone marrow and heart.

UniProtKB/Swiss-Prot : 71 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

Symptoms via clinical synopsis from OMIM:

53
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

Human phenotypes related to Diamond-Blackfan Anemia 11:

31 (show all 15)
# Description HPO Frequency HPO Source Accession
1 short stature 31 HP:0004322
2 anemia 31 obligate (100%) HP:0001903
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 stenosis of the external auditory canal 31 HP:0000402
8 atresia of the external auditory canal 31 HP:0000413
9 hypoplasia of the ulna 31 HP:0003022
10 hypoplasia of the radius 31 HP:0002984
11 renal agenesis 31 HP:0000104
12 absent thumb 31 HP:0009777
13 anemia of inadequate production 31 HP:0010972
14 forearm reduction defects 31 HP:0006368
15 abnormal eyelid morphology 31 HP:0000492

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 28 RPL26

Anatomical Context for Diamond-Blackfan Anemia 11

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

38
Bone, Bone Marrow, Heart

Publications for Diamond-Blackfan Anemia 11

Variations for Diamond-Blackfan Anemia 11

ClinVar genetic disease variations for Diamond-Blackfan Anemia 11:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 RPL26 NM_000987.4(RPL26): c.120_121delGA (p.Lys41Valfs) deletion Pathogenic rs397518451 GRCh37 Chromosome 17, 8285508: 8285509

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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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