DBA17
MCID: DMN039
MIFTS: 19

Diamond-Blackfan Anemia 17 (DBA17)

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

Aliases & Classifications for Diamond-Blackfan Anemia 17

MalaCards integrated aliases for Diamond-Blackfan Anemia 17:

Name: Diamond-Blackfan Anemia 17 58 76 30 6
Dba17 58 76
Anemia, Diamond-Blackfan, Type 17 41

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
based on report of 1 patient (last curated march 2017)
diagnosed at 2 months of age


HPO:

33
diamond-blackfan anemia 17:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 617409
MeSH 45 D029503

Summaries for Diamond-Blackfan Anemia 17

UniProtKB/Swiss-Prot : 76 Diamond-Blackfan anemia 17: 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, also known as dba17, is related to diamond-blackfan anemia. An important gene associated with Diamond-Blackfan Anemia 17 is RPS27 (Ribosomal Protein S27). Affiliated tissues include skin, and related phenotypes are anemia and hyperpigmentation of the skin

Description from OMIM: 617409

Related Diseases for Diamond-Blackfan Anemia 17

Symptoms & Phenotypes for Diamond-Blackfan Anemia 17

Human phenotypes related to Diamond-Blackfan Anemia 17:

33
# Description HPO Frequency HPO Source Accession
1 anemia 33 HP:0001903
2 hyperpigmentation of the skin 33 HP:0000953

Symptoms via clinical synopsis from OMIM:

58
Hematology:
anemia

Skin Nails Hair Skin:
abnormal pigmentation

Clinical features from OMIM:

617409

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 30 RPS27

Anatomical Context for Diamond-Blackfan Anemia 17

MalaCards organs/tissues related to Diamond-Blackfan Anemia 17:

42
Skin

Publications for Diamond-Blackfan Anemia 17

Variations for Diamond-Blackfan Anemia 17

ClinVar genetic disease variations for Diamond-Blackfan Anemia 17:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 RPS27 NM_001030.5(RPS27): c.90delC (p.Tyr31Thrfs) deletion Pathogenic rs1085307115 GRCh37 Chromosome 1, 153963674: 153963674
2 RPS27 NM_001030.5(RPS27): c.90delC (p.Tyr31Thrfs) deletion Pathogenic rs1085307115 GRCh38 Chromosome 1, 153991198: 153991198

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

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
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
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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