MCID: DMN039
MIFTS: 18

Diamond-Blackfan Anemia 17

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

Aliases & Classifications for Diamond-Blackfan Anemia 17

MalaCards integrated aliases for Diamond-Blackfan Anemia 17:

Name: Diamond-Blackfan Anemia 17 57 75 29 6
Dba17 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
diamond-blackfan anemia 17:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 617409
MeSH 44 D029503

Summaries for Diamond-Blackfan Anemia 17

UniProtKB/Swiss-Prot : 75 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 hyperpigmentation of the skin and anemia

Description from OMIM: 617409

Related Diseases for Diamond-Blackfan Anemia 17

Symptoms & Phenotypes for Diamond-Blackfan Anemia 17

Symptoms via clinical synopsis from OMIM:

57
Skin Nails Hair Skin:
abnormal pigmentation

Hematology:
anemia


Clinical features from OMIM:

617409

Human phenotypes related to Diamond-Blackfan Anemia 17:

32
# Description HPO Frequency HPO Source Accession
1 hyperpigmentation of the skin 32 HP:0000953
2 anemia 32 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 29 RPS27

Anatomical Context for Diamond-Blackfan Anemia 17

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

41
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 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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