MCID: DMN024
MIFTS: 30

Diamond-Blackfan Anemia 7

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

Aliases & Classifications for Diamond-Blackfan Anemia 7

MalaCards integrated aliases for Diamond-Blackfan Anemia 7:

Name: Diamond-Blackfan Anemia 7 54 71 29 13 69
Dba7 71

Characteristics:

OMIM:

54
Inheritance:
autosomal dominant

Miscellaneous:
onset is usually in the first years of life


HPO:

32
diamond-blackfan anemia 7:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Diamond-Blackfan Anemia 7

OMIM : 54
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). (612562)

MalaCards based summary : Diamond-Blackfan Anemia 7, also known as dba7, is related to rpl11-related diamond-blackfan anemia, and has symptoms including tetralogy of fallot, horseshoe kidney and vesicoureteral reflux. An important gene associated with Diamond-Blackfan Anemia 7 is RPL11 (Ribosomal Protein L11). The drugs Iron and Deferasirox have been mentioned in the context of this disorder. Affiliated tissues include bone, heart and bone marrow.

UniProtKB/Swiss-Prot : 71 Diamond-Blackfan anemia 7: 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.

Symptoms & Phenotypes for Diamond-Blackfan Anemia 7

Symptoms via clinical synopsis from OMIM:

54

Skeletal- Spine:
scoliosis

Growth- Other:
growth retardation
intrauterine growth retardation (some patients)

Head And Neck- Nose:
choanal atresia

Cardiovascular- Heart:
patent ductus arteriosus
ventricular septal defect
ostium secundum atrial septal defect

Skeletal:
osteoporosis
osteopenia

Laboratory- Abnormalities:
elevated erythrocyte adenosine deaminase (eada)
vitamin d deficiency

Head And Neck- Face:
cathie facies

Chest- Ribs Sternum Clavicles And Scapulae:
sprengel deformity

Neurologic- Central Nervous System:
delayed linguistic development (rare)

Prenatal Manifestations- Placenta And Umbilical Cord:
high eada in cord blood

Hematology:
neutropenia
anemia

Head And Neck- Ears:
hearing loss
otitis media, recurrent
auditory canal atresia

Head And Neck- Mouth:
cleft palate

Prenatal Manifestations- Amniotic Fluid:
polyhydramnios

Skeletal- Hands:
triphalangeal thumbs
hypoplastic thumbs

Prenatal Manifestations- Movement:
fetal distress

Abdomen- Gastroin testinal:
gastrointestinal reflux
eosinophilic esophagitis

Abdomen- Liver:
hepatic iron overload, mild to severe

Immunology:
recurrent infections (chest, otitis media)

Prenatal Manifestations- Delivery:
poor progression in labor


Clinical features from OMIM:

612562

Human phenotypes related to Diamond-Blackfan Anemia 7:

32 (show all 7)
id Description HPO Frequency HPO Source Accession
1 tetralogy of fallot 32 occasional (7.5%) HP:0001636
2 horseshoe kidney 32 occasional (7.5%) HP:0000085
3 vesicoureteral reflux 32 occasional (7.5%) HP:0000076
4 increased mean corpuscular volume 32 HP:0005518
5 macrocytic anemia 32 HP:0001972
6 triphalangeal thumb 32 HP:0001199
7 small hypothenar eminence 32 HP:0010487

Drugs & Therapeutics for Diamond-Blackfan Anemia 7

Drugs for Diamond-Blackfan Anemia 7 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 44)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Iron Approved Phase 3,Phase 2 7439-89-6 23925
2
Deferasirox Approved, Investigational Phase 3,Phase 2 201530-41-8 5493381
3 Chelating Agents Phase 3,Phase 2
4 Iron Chelating Agents Phase 3,Phase 2
5
Deferoxamine Approved, Investigational Phase 2 70-51-9 2973
6
alemtuzumab Approved, Investigational Phase 1, Phase 2 216503-57-0
7
Busulfan Approved, Investigational Phase 1, Phase 2 55-98-1 2478
8
Cyclophosphamide Approved, Investigational Phase 1, Phase 2 50-18-0, 6055-19-2 2907
9
Everolimus Approved Phase 1, Phase 2 159351-69-6 6442177
10
Fludarabine Approved Phase 1, Phase 2 21679-14-1, 75607-67-9 30751
11
Melphalan Approved Phase 1, Phase 2 148-82-3 4053 460612
12
Methylprednisolone Approved, Vet_approved Phase 1, Phase 2 83-43-2 6741
13
Prednisolone Approved, Vet_approved Phase 1, Phase 2 50-24-8 5755
14
Sirolimus Approved, Investigational Phase 1, Phase 2 53123-88-9 5284616 6436030 46835353
15
Tacrolimus Approved, Investigational Phase 1, Phase 2 104987-11-3 445643 439492
16 Thiotepa Approved Phase 1, Phase 2 52-24-4 5453
17 Liver Extracts Phase 2,Phase 1
18 Micronutrients Phase 2
19 Trace Elements Phase 2
20 Alkylating Agents Phase 1, Phase 2
21 Antiemetics Phase 1, Phase 2
22 Anti-Inflammatory Agents Phase 1, Phase 2
23 Antimetabolites Phase 1, Phase 2
24 Antimetabolites, Antineoplastic Phase 1, Phase 2
25 Antineoplastic Agents, Hormonal Phase 1, Phase 2
26 Antirheumatic Agents Phase 1, Phase 2
27 Autonomic Agents Phase 1, Phase 2
28 Calcineurin Inhibitors Phase 1, Phase 2
29 Gastrointestinal Agents Phase 1, Phase 2
30 glucocorticoids Phase 1, Phase 2
31 Hormone Antagonists Phase 1, Phase 2
32 Hormones Phase 1, Phase 2
33 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 1, Phase 2
34 Immunosuppressive Agents Phase 1, Phase 2
35 Methylprednisolone acetate Phase 1, Phase 2
36 Methylprednisolone Hemisuccinate Phase 1, Phase 2
37 Neuroprotective Agents Phase 1, Phase 2
38 Peripheral Nervous System Agents Phase 1, Phase 2
39 Pharmaceutical Solutions Phase 1, Phase 2
40 Prednisolone acetate Phase 1, Phase 2
41 Prednisolone hemisuccinate Phase 1, Phase 2
42 Prednisolone phosphate Phase 1, Phase 2
43 Protective Agents Phase 1, Phase 2
44 leucine Nutraceutical Phase 2

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 A Study Assessing the Efficacy and Safety of Deferasirox in Patients With Transfusion-dependent Iron Overload Completed NCT00171821 Phase 3 Deferasirox
2 L-leucine in Diamond Blackfan Anemia Patients Unknown status NCT02386267 Phase 2 L-leucine
3 Evaluating Use of Deferasirox as Compared to Deferoxamine in Treating Cardiac Iron Overload Completed NCT00600938 Phase 2 Core Study: Deferasirox;Core Study: Deferoxamine;Extension: deferoxamine to deferasirox;Extension: deferasirox to deferoxamine;Deferasirox;Deferoxamine
4 CD34+ (Malignant) Stem Cell Selection for Patients Receiving Allogenic Stem Cell Transplant Recruiting NCT02061800 Phase 1, Phase 2 Thiotepa;Cyclophosphamide;Alemtuzumab;Tacrolimus;Melphalan;Busulfan;Fludarabine;Methylprednisolone
5 Safety Study of Gene Modified Donor T Cell Infusion After Stem Cell Transplant for Non-Malignant Diseases Recruiting NCT02231710 Phase 1
6 Multi-Center Study of Iron Overload: Pilot Study Unknown status NCT01114776
7 Multi-Center Study of Iron Overload: Survey Study (MCSIO) Unknown status NCT01913548

Search NIH Clinical Center for Diamond-Blackfan Anemia 7

Genetic Tests for Diamond-Blackfan Anemia 7

Genetic tests related to Diamond-Blackfan Anemia 7:

id Genetic test Affiliating Genes
1 Diamond-Blackfan Anemia 7 29

Anatomical Context for Diamond-Blackfan Anemia 7

MalaCards organs/tissues related to Diamond-Blackfan Anemia 7:

39
Bone, Heart, Bone Marrow, Liver, Kidney, T Cells

Publications for Diamond-Blackfan Anemia 7

Variations for Diamond-Blackfan Anemia 7

UniProtKB/Swiss-Prot genetic disease variations for Diamond-Blackfan Anemia 7:

71
id Symbol AA change Variation ID SNP ID
1 RPL11 p.Leu20His VAR_055448

ClinVar genetic disease variations for Diamond-Blackfan Anemia 7:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 RPL11 NM_000975.4(RPL11): c.223C> T (p.Arg75Ter) single nucleotide variant Pathogenic rs121434389 GRCh37 Chromosome 1, 24020362: 24020362
2 RPL11 RPL11, 2-BP DEL, 60CT deletion Pathogenic
3 RPL11 RPL11, 3-BP DEL, 482AGG deletion Pathogenic
4 RPL11 RPL11, IVS2AS, G-A, -1 single nucleotide variant Pathogenic
5 RPL11 NM_000975.4(RPL11): c.476_477delAA (p.Lys159Argfs) deletion Pathogenic rs587777119 GRCh37 Chromosome 1, 24022367: 24022368
6 RPL11 NM_000975.4(RPL11): c.204delT (p.Ile68Metfs) deletion Pathogenic rs587777120 GRCh37 Chromosome 1, 24020343: 24020343

Expression for Diamond-Blackfan Anemia 7

Search GEO for disease gene expression data for Diamond-Blackfan Anemia 7.

Pathways for Diamond-Blackfan Anemia 7

GO Terms for Diamond-Blackfan Anemia 7

Sources for Diamond-Blackfan Anemia 7

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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