DBA16
MCID: DMN040
MIFTS: 19

Diamond-Blackfan Anemia 16 (DBA16)

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

Aliases & Classifications for Diamond-Blackfan Anemia 16

MalaCards integrated aliases for Diamond-Blackfan Anemia 16:

Name: Diamond-Blackfan Anemia 16 56 73 29 6
Dba16 56 73
Anemia, Diamond-Blackfan, Type 16 39

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
based on report of 1 patient (last curated march 2017)
diagnosed at birth


HPO:

31
diamond-blackfan anemia 16:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 56 617408
OMIM Phenotypic Series 56 PS105650
MeSH 43 D029503

Summaries for Diamond-Blackfan Anemia 16

UniProtKB/Swiss-Prot : 73 Diamond-Blackfan anemia 16: 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.

MalaCards based summary : Diamond-Blackfan Anemia 16, is also known as dba16. An important gene associated with Diamond-Blackfan Anemia 16 is RPL27 (Ribosomal Protein L27). Affiliated tissues include bone marrow and bone, and related phenotypes are anemia and atrial septal defect

More information from OMIM: 617408 PS105650

Related Diseases for Diamond-Blackfan Anemia 16

Symptoms & Phenotypes for Diamond-Blackfan Anemia 16

Human phenotypes related to Diamond-Blackfan Anemia 16:

31
# Description HPO Frequency HPO Source Accession
1 anemia 31 HP:0001903
2 atrial septal defect 31 HP:0001631
3 pulmonic stenosis 31 HP:0001642

Symptoms via clinical synopsis from OMIM:

56
Hematology:
anemia
hypercellularity of bone marrow

Cardiovascular Vascular:
pulmonary stenosis

Cardiovascular Heart:
atrial septal defect

Clinical features from OMIM:

617408

Drugs & Therapeutics for Diamond-Blackfan Anemia 16

Search Clinical Trials , NIH Clinical Center for Diamond-Blackfan Anemia 16

Genetic Tests for Diamond-Blackfan Anemia 16

Genetic tests related to Diamond-Blackfan Anemia 16:

# Genetic test Affiliating Genes
1 Diamond-Blackfan Anemia 16 29 RPL27

Anatomical Context for Diamond-Blackfan Anemia 16

MalaCards organs/tissues related to Diamond-Blackfan Anemia 16:

40
Bone Marrow, Bone

Publications for Diamond-Blackfan Anemia 16

Articles related to Diamond-Blackfan Anemia 16:

# Title Authors PMID Year
1
Loss of function mutations in RPL27 and RPS27 identified by whole-exome sequencing in Diamond-Blackfan anaemia. 56 6
25424902 2015
2
Diamond-Blackfan Anemia 6
20301769 2009

Variations for Diamond-Blackfan Anemia 16

ClinVar genetic disease variations for Diamond-Blackfan Anemia 16:

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 RPL27 NM_000988.5(RPL27):c.-2-1G>ASNV Pathogenic 417776 rs1085307119 17:41150765-41150765 17:42998748-42998748

Expression for Diamond-Blackfan Anemia 16

Search GEO for disease gene expression data for Diamond-Blackfan Anemia 16.

Pathways for Diamond-Blackfan Anemia 16

GO Terms for Diamond-Blackfan Anemia 16

Sources for Diamond-Blackfan Anemia 16

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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