DBA16
MCID: DMN040
MIFTS: 18

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 57 74 29 6
Dba16 57 74
Anemia, Diamond-Blackfan, Type 16 40

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
diamond-blackfan anemia 16:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

MeSH 44 D029503

Summaries for Diamond-Blackfan Anemia 16

UniProtKB/Swiss-Prot : 74 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 and bone marrow, 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:

32
# Description HPO Frequency HPO Source Accession
1 anemia 32 HP:0001903
2 atrial septal defect 32 HP:0001631
3 pulmonic stenosis 32 HP:0001642

Symptoms via clinical synopsis from OMIM:

57
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:

41
Bone, Bone Marrow

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. 8 71
25424902 2015
2
Diamond-Blackfan Anemia 71
20301769 2009

Variations for Diamond-Blackfan Anemia 16

ClinVar genetic disease variations for Diamond-Blackfan Anemia 16:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 RPL27 NM_000988.5(RPL27): c.-2-1G> A single nucleotide variant Pathogenic 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 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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