MCID: DMN019
MIFTS: 23

Diamond-Blackfan Anemia 4

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

Aliases & Classifications for Diamond-Blackfan Anemia 4

MalaCards integrated aliases for Diamond-Blackfan Anemia 4:

Name: Diamond-Blackfan Anemia 4 57 75 29 13 6 73
Dba4 57 75
Anemia, Diamond-Blackfan, Type 4 40

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
onset at birth or in infancy
some patients are steroid responsive


HPO:

32
diamond-blackfan anemia 4:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Diamond-Blackfan Anemia 4

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). (612527)

MalaCards based summary : Diamond-Blackfan Anemia 4, is also known as dba4. An important gene associated with Diamond-Blackfan Anemia 4 is RPS17 (Ribosomal Protein S17). The drugs Lenograstim and Adjuvants, Immunologic have been mentioned in the context of this disorder. Affiliated tissues include heart, bone and bone marrow, and related phenotypes are atrial septal defect and neutropenia

UniProtKB/Swiss-Prot : 75 Diamond-Blackfan anemia 4: 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 developing leukemia. 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 4

Symptoms & Phenotypes for Diamond-Blackfan Anemia 4

Symptoms via clinical synopsis from OMIM:

57
Growth Height:
short stature

Head And Neck Face:
facial dysmorphism

Skeletal Hands:
flat thenar

Laboratory Abnormalities:
elevated erythrocyte adenosine deaminase (eada)

Growth Other:
growth retardation

Cardiovascular Heart:
atrial septal defect

Hematology:
anemia, macrocytic
neutropenia
moderate iron overload


Clinical features from OMIM:

612527

Human phenotypes related to Diamond-Blackfan Anemia 4:

32 (show all 7)
# Description HPO Frequency HPO Source Accession
1 atrial septal defect 32 HP:0001631
2 neutropenia 32 HP:0001875
3 reticulocytopenia 32 HP:0001896
4 macrocytic anemia 32 HP:0001972
5 abnormal facial shape 32 HP:0001999
6 short stature 32 HP:0004322
7 erythroid hypoplasia 32 HP:0012133

Drugs & Therapeutics for Diamond-Blackfan Anemia 4

Drugs for Diamond-Blackfan Anemia 4 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Lenograstim Approved, Investigational Phase 2 135968-09-1
2 Adjuvants, Immunologic Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Mobilization of Stem Cells With G-CSF for Collection From Patients With Diamond-Blackfan Anemia Completed NCT00011505 Phase 2 G-CSF

Search NIH Clinical Center for Diamond-Blackfan Anemia 4

Genetic Tests for Diamond-Blackfan Anemia 4

Genetic tests related to Diamond-Blackfan Anemia 4:

# Genetic test Affiliating Genes
1 Diamond-Blackfan Anemia 4 29 RPS17

Anatomical Context for Diamond-Blackfan Anemia 4

MalaCards organs/tissues related to Diamond-Blackfan Anemia 4:

41
Heart, Bone, Bone Marrow

Publications for Diamond-Blackfan Anemia 4

Variations for Diamond-Blackfan Anemia 4

ClinVar genetic disease variations for Diamond-Blackfan Anemia 4:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 RPS17 NM_001021.5(RPS17): c.2T> G (p.Met1Arg) single nucleotide variant Pathogenic rs116840811 GRCh38 Chromosome 15, 82540427: 82540427
2 RPS17 NM_001021.5(RPS17): c.200_201delGA (p.Gly68Tyrfs) deletion Pathogenic rs116840812 GRCh38 Chromosome 15, 82538940: 82538941
3 RPS17 NM_001021.5(RPS17): c.200_201delGA (p.Gly68Tyrfs) deletion Pathogenic rs116840812 GRCh37 Chromosome 15, 82823348: 82823349
4 RPS17 NM_001021.5(RPS17): c.2T> G (p.Met1Arg) single nucleotide variant Pathogenic rs116840811 GRCh37 Chromosome 15, 82824835: 82824835
5 RPS17 RPS17, 2.9-KB DEL deletion Pathogenic
6 RPS17 NM_001021.5(RPS17): c.159T> G (p.Tyr53Ter) single nucleotide variant Pathogenic rs6991 GRCh37 Chromosome 15, 82823390: 82823390
7 RPS17 NM_001021.5(RPS17): c.159T> G (p.Tyr53Ter) single nucleotide variant Pathogenic rs6991 GRCh38 Chromosome 15, 82538982: 82538982

Expression for Diamond-Blackfan Anemia 4

Search GEO for disease gene expression data for Diamond-Blackfan Anemia 4.

Pathways for Diamond-Blackfan Anemia 4

GO Terms for Diamond-Blackfan Anemia 4

Sources for Diamond-Blackfan Anemia 4

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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