DBA19
MCID: DMN048
MIFTS: 16

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 58 76 6
Dba19 58 76
Global Developmental Delay, Progressive Ataxia, and Elevated Glutamine 58

Classifications:



External Ids:

OMIM 58 618312
MeSH 45 D029503
MedGen 43 CN258195

Summaries for Diamond-Blackfan Anemia 19

UniProtKB/Swiss-Prot : 76 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, also known as dba19, is related to global developmental delay, progressive ataxia, and elevated glutamine. An important gene associated with Diamond-Blackfan Anemia 19 is RPL35 (Ribosomal Protein L35). Affiliated tissues include bone.

Description from OMIM: 618312

Related Diseases for Diamond-Blackfan Anemia 19

Symptoms & Phenotypes for Diamond-Blackfan Anemia 19

Clinical features from OMIM:

618312

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

Anatomical Context for Diamond-Blackfan Anemia 19

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

42
Bone

Publications for Diamond-Blackfan Anemia 19

Articles related to Diamond-Blackfan Anemia 19:

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

Variations for Diamond-Blackfan Anemia 19

ClinVar genetic disease variations for Diamond-Blackfan Anemia 19:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 RPL35 NM_007209.4(RPL35): c.231G> C (p.Lys77Asn) single nucleotide variant Pathogenic GRCh37 Chromosome 9, 127620338: 127620338
2 RPL35 NM_007209.4(RPL35): c.231G> C (p.Lys77Asn) single nucleotide variant Pathogenic GRCh38 Chromosome 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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
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45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
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55 NINDS
56 Novoseek
58 OMIM
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63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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