MCID: DMN039
MIFTS: 16

Diamond-Blackfan Anemia 17

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

Aliases & Classifications for Diamond-Blackfan Anemia 17

MalaCards integrated aliases for Diamond-Blackfan Anemia 17:

Name: Diamond-Blackfan Anemia 17 53 71 28
Dba17 53 71

Characteristics:

OMIM:

53
Inheritance:
autosomal dominant

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


HPO:

31
diamond-blackfan anemia 17:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 53 617409
MeSH 41 D029503
SNOMED-CT via HPO 65 263681008 165397008 271737000

Summaries for Diamond-Blackfan Anemia 17

UniProtKB/Swiss-Prot : 71 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, is also known as dba17, and has symptoms including abnormality of skin pigmentation and anemia. An important gene associated with Diamond-Blackfan Anemia 17 is RPS27 (Ribosomal Protein S27). Affiliated tissues include skin.

Description from OMIM: 617409

Related Diseases for Diamond-Blackfan Anemia 17

Symptoms & Phenotypes for Diamond-Blackfan Anemia 17

Symptoms via clinical synopsis from OMIM:

53
Skin Nails Hair Skin:
abnormal pigmentation

Hematology:
anemia


Clinical features from OMIM:

617409

Human phenotypes related to Diamond-Blackfan Anemia 17:

31
# Description HPO Frequency HPO Source Accession
1 abnormality of skin pigmentation 31 HP:0001000
2 anemia 31 HP:0001903

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

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

38
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

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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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