DBA19
MCID: DMN048
MIFTS: 18

Diamond-Blackfan Anemia 19 (DBA19)

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

Aliases & Classifications for Diamond-Blackfan Anemia 19

MalaCards integrated aliases for Diamond-Blackfan Anemia 19:

Name: Diamond-Blackfan Anemia 19 57 12 72 29 6
Dba19 57 12 72
Rpl35-Related Diamond-Blackfan Anemia 12

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

Miscellaneous:
onset in the first year of life
one family has been reported (last curated january 2019)


HPO:

31
diamond-blackfan anemia 19:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111886
OMIM® 57 618312
OMIM Phenotypic Series 57 PS105650
MeSH 44 D029503
SNOMED-CT via HPO 68 167923006 263681008 41614006

Summaries for Diamond-Blackfan Anemia 19

UniProtKB/Swiss-Prot : 72 Diamond-Blackfan anemia 19: 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. DBA19 inheritance is autosomal dominant.

MalaCards based summary : Diamond-Blackfan Anemia 19, is also known as dba19. An important gene associated with Diamond-Blackfan Anemia 19 is RPL35 (Ribosomal Protein L35). Affiliated tissues include bone marrow and bone, and related phenotypes are erythroid hypoplasia and steroid-responsive anemia

Disease Ontology : 12 A Diamond-Blackfan anemia that has material basis in heterozygous mutation in RPL35 on chromosome 9q33.3.

More information from OMIM: 618312 PS105650

Related Diseases for Diamond-Blackfan Anemia 19

Symptoms & Phenotypes for Diamond-Blackfan Anemia 19

Human phenotypes related to Diamond-Blackfan Anemia 19:

31
# Description HPO Frequency HPO Source Accession
1 erythroid hypoplasia 31 very rare (1%) HP:0012133
2 steroid-responsive anemia 31 very rare (1%) HP:0033074

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Hematology:
anemia, steroid-responsive
bone marrow shows erythroid hypoplasia

Clinical features from OMIM®:

618312 (Updated 20-May-2021)

Drugs & Therapeutics for Diamond-Blackfan Anemia 19

Search Clinical Trials , NIH Clinical Center for Diamond-Blackfan Anemia 19

Genetic Tests for Diamond-Blackfan Anemia 19

Genetic tests related to Diamond-Blackfan Anemia 19:

# Genetic test Affiliating Genes
1 Diamond-Blackfan Anemia 19 29 RPL35

Anatomical Context for Diamond-Blackfan Anemia 19

MalaCards organs/tissues related to Diamond-Blackfan Anemia 19:

40
Bone Marrow, Bone

Publications for Diamond-Blackfan Anemia 19

Articles related to Diamond-Blackfan Anemia 19:

# Title Authors PMID Year
1
Novel and known ribosomal causes of Diamond-Blackfan anaemia identified through comprehensive genomic characterisation. 57 6
28280134 2017

Variations for Diamond-Blackfan Anemia 19

ClinVar genetic disease variations for Diamond-Blackfan Anemia 19:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 RPL35 NM_007209.4(RPL35):c.231G>C (p.Lys77Asn) SNV Pathogenic 617672 rs1564307664 GRCh37: 9:127620338-127620338
GRCh38: 9:124858059-124858059

Expression for Diamond-Blackfan Anemia 19

Search GEO for disease gene expression data for Diamond-Blackfan Anemia 19.

Pathways for Diamond-Blackfan Anemia 19

GO Terms for Diamond-Blackfan Anemia 19

Sources for Diamond-Blackfan Anemia 19

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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