DBA17
MCID: DMN039
MIFTS: 20

Diamond-Blackfan Anemia 17 (DBA17)

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 17

MalaCards integrated aliases for Diamond-Blackfan Anemia 17:

Name: Diamond-Blackfan Anemia 17 57 11 73 28 5
Dba17 57 11 73
Rps27-Related Diamond-Blackfan Anemia 11
Anemia, Diamond-Blackfan, Type 17 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 2 months of age


Classifications:



External Ids:

Disease Ontology 11 DOID:0111880
OMIM® 57 617409
OMIM Phenotypic Series 57 PS105650
MeSH 43 D029503

Summaries for Diamond-Blackfan Anemia 17

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 17, is also known as dba17. An important gene associated with Diamond-Blackfan Anemia 17 is RPS27 (Ribosomal Protein S27). Affiliated tissues include bone marrow, skin and bone, and related phenotypes are anemia and hyperpigmentation of the skin

Disease Ontology: 11 A Diamond-Blackfan anemia that has material basis in heterozygous mutation in RPS27 on chromosome 1q21.3.

More information from OMIM: 617409 PS105650

Symptoms & Phenotypes for Diamond-Blackfan Anemia 17

Human phenotypes related to Diamond-Blackfan Anemia 17:

30
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 anemia 30 HP:0001903
2 hyperpigmentation of the skin 30 HP:0000953

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Hematology:
anemia

Skin Nails Hair Skin:
abnormal pigmentation

Clinical features from OMIM®:

617409 (Updated 08-Dec-2022)

Drugs & Therapeutics for Diamond-Blackfan Anemia 17

Search Clinical Trials, NIH Clinical Center for Diamond-Blackfan Anemia 17

Genetic Tests for Diamond-Blackfan Anemia 17

Genetic tests related to Diamond-Blackfan Anemia 17:

# Genetic test Affiliating Genes
1 Diamond-Blackfan Anemia 17 28 RPS27

Anatomical Context for Diamond-Blackfan Anemia 17

Organs/tissues related to Diamond-Blackfan Anemia 17:

MalaCards : Bone Marrow, Skin, Bone
ODiseA: Blood And Bone Marrow

Publications for Diamond-Blackfan Anemia 17

Articles related to Diamond-Blackfan Anemia 17:

# 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 17

ClinVar genetic disease variations for Diamond-Blackfan Anemia 17:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 RPS27 NM_001030.6(RPS27):c.90del (p.Tyr31fs) DEL Pathogenic
417765 rs1085307115 GRCh37: 1:153963673-153963673
GRCh38: 1:153991197-153991197
2 RPS27 NM_001030.6(RPS27):c.116-45_116-44dup DUP Benign
1327974 GRCh37: 1:153963995-153963996
GRCh38: 1:153991519-153991520

Expression for Diamond-Blackfan Anemia 17

Search GEO for disease gene expression data for Diamond-Blackfan Anemia 17.

Pathways for Diamond-Blackfan Anemia 17

GO Terms for Diamond-Blackfan Anemia 17

Sources for Diamond-Blackfan Anemia 17

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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