MCID: DMN029
MIFTS: 22

Diamond-Blackfan Anemia 11

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

Aliases & Classifications for Diamond-Blackfan Anemia 11

MalaCards integrated aliases for Diamond-Blackfan Anemia 11:

Name: Diamond-Blackfan Anemia 11 57 75 29 13 6 73
Dba11 57 75
Anemia, Diamond-Blackfan, Type 11 40

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
diamond-blackfan anemia 11:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Diamond-Blackfan Anemia 11

OMIM : 57 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 marrow, bone and heart, and related phenotypes are renal agenesis and cleft palate

UniProtKB/Swiss-Prot : 75 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:

57
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:

32 (show all 15)
# Description HPO Frequency HPO Source Accession
1 renal agenesis 32 HP:0000104
2 cleft palate 32 HP:0000175
3 stenosis of the external auditory canal 32 HP:0000402
4 atresia of the external auditory canal 32 HP:0000413
5 abnormal eyelid morphology 32 HP:0000492
6 bicuspid aortic valve 32 HP:0001647
7 neutropenia 32 HP:0001875
8 anemia 32 obligate (100%) HP:0001903
9 hypoplasia of the radius 32 HP:0002984
10 hypoplasia of the ulna 32 HP:0003022
11 short stature 32 HP:0004322
12 bone marrow hypocellularity 32 HP:0005528
13 forearm reduction defects 32 HP:0006368
14 absent thumb 32 HP:0009777
15 anemia of inadequate production 32 HP:0010972

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:

41
Bone Marrow, Bone, 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
2 RPL26 NM_000987.4(RPL26): c.120_121delGA (p.Lys41Valfs) deletion Pathogenic rs397518451 GRCh38 Chromosome 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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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