DBA16
MCID: DMN040
MIFTS: 20

Diamond-Blackfan Anemia 16 (DBA16)

Categories: Blood diseases, Bone diseases, Cancer diseases, Fetal diseases, Genetic diseases, Immune diseases, Metabolic diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Diamond-Blackfan Anemia 16

MalaCards integrated aliases for Diamond-Blackfan Anemia 16:

Name: Diamond-Blackfan Anemia 16 57 11 73 28 5
Dba16 57 11 73
Rpl27-Related Diamond-Blackfan Anemia 11
Anemia, Diamond-Blackfan, Type 16 38

Characteristics:


Inheritance:

Autosomal dominant 57

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
based on report of 1 patient (last curated march 2017)
diagnosed at birth


Classifications:



External Ids:

Disease Ontology 11 DOID:0111893
OMIM® 57 617408
OMIM Phenotypic Series 57 PS105650
MeSH 43 D029503

Summaries for Diamond-Blackfan Anemia 16

UniProtKB/Swiss-Prot: 73 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, bone and blood and bone marrow, and related phenotypes are anemia and atrial septal defect

Disease Ontology: 11 A Diamond-Blackfan anemia that has material basis in heterozygous mutation in RPL27 on chromosome 17q21.31.

More information from OMIM: 617408 PS105650

Symptoms & Phenotypes for Diamond-Blackfan Anemia 16

Human phenotypes related to Diamond-Blackfan Anemia 16:

30
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 anemia 30 HP:0001903
2 atrial septal defect 30 HP:0001631
3 pulmonic stenosis 30 HP:0001642

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Hematology:
anemia
hypercellularity of bone marrow

Cardiovascular Vascular:
pulmonary stenosis

Cardiovascular Heart:
atrial septal defect

Clinical features from OMIM®:

617408 (Updated 08-Dec-2022)

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 28 RPL27

Anatomical Context for Diamond-Blackfan Anemia 16

Organs/tissues related to Diamond-Blackfan Anemia 16:

MalaCards : Bone Marrow, Bone
ODiseA: Blood And 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. 57 5
25424902 2015

Variations for Diamond-Blackfan Anemia 16

ClinVar genetic disease variations for Diamond-Blackfan Anemia 16:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 RPL27 NM_000988.5(RPL27):c.-2-1G>A SNV Pathogenic
417776 rs1085307119 GRCh37: 17:41150765-41150765
GRCh38: 17:42998748-42998748
2 RPL27 NM_000988.5(RPL27):c.403C>T (p.Arg135Trp) SNV Uncertain Significance
1683516 GRCh37: 17:41154929-41154929
GRCh38: 17:43002912-43002912
3 RPL27 NM_000988.5(RPL27):c.362+17A>C SNV Benign
1243778 GRCh37: 17:41154817-41154817
GRCh38: 17:43002800-43002800

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

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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