DBAL
MCID: DMN045
MIFTS: 16

Diamond-Blackfan Anemia-Like (DBAL)

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

Aliases & Classifications for Diamond-Blackfan Anemia-Like

MalaCards integrated aliases for Diamond-Blackfan Anemia-Like:

Name: Diamond-Blackfan Anemia-Like 57 75 6
Dbal 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
favorable response to treatment with recombinant epo
one consanguineous turkish family has been reported (last curated march 2018)


HPO:

32
diamond-blackfan anemia-like:
Onset and clinical course infantile onset


Classifications:



External Ids:

OMIM 57 617911
MedGen 42 CN873436
MeSH 44 D029503
SNOMED-CT via HPO 69 165397008 271737000

Summaries for Diamond-Blackfan Anemia-Like

UniProtKB/Swiss-Prot : 75 Diamond-Blackfan anemia-like: An autosomal recessive hematologic disease characterized by severe red cell hypoplastic anemia, selective absence of red cell precursors and progenitors seen on bone marrow biopsy, and increased serum erythropoietin.

MalaCards based summary : Diamond-Blackfan Anemia-Like, is also known as dbal. An important gene associated with Diamond-Blackfan Anemia-Like is EPO (Erythropoietin). Affiliated tissues include bone and bone marrow, and related phenotype is anemia.

Description from OMIM: 617911

Related Diseases for Diamond-Blackfan Anemia-Like

Symptoms & Phenotypes for Diamond-Blackfan Anemia-Like

Symptoms via clinical synopsis from OMIM:

57
Hematology:
anemia, red cell, hypoplastic
selective absence of red cell precursors and progenitors seen on bone marrow biopsy

Laboratory Abnormalities:
increased serum erythropoietin (epo)


Clinical features from OMIM:

617911

Human phenotypes related to Diamond-Blackfan Anemia-Like:

32
# Description HPO Frequency HPO Source Accession
1 anemia 32 HP:0001903

Drugs & Therapeutics for Diamond-Blackfan Anemia-Like

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

Genetic Tests for Diamond-Blackfan Anemia-Like

Anatomical Context for Diamond-Blackfan Anemia-Like

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

41
Bone, Bone Marrow

Publications for Diamond-Blackfan Anemia-Like

Variations for Diamond-Blackfan Anemia-Like

UniProtKB/Swiss-Prot genetic disease variations for Diamond-Blackfan Anemia-Like:

75
# Symbol AA change Variation ID SNP ID
1 EPO p.Arg177Gln VAR_078447

ClinVar genetic disease variations for Diamond-Blackfan Anemia-Like:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 EPO NM_000799.3(EPO): c.530G> A (p.Arg177Gln) single nucleotide variant Pathogenic GRCh37 Chromosome 7, 100320704: 100320704
2 EPO NM_000799.3(EPO): c.530G> A (p.Arg177Gln) single nucleotide variant Pathogenic GRCh38 Chromosome 7, 100723081: 100723081

Expression for Diamond-Blackfan Anemia-Like

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

Pathways for Diamond-Blackfan Anemia-Like

GO Terms for Diamond-Blackfan Anemia-Like

Sources for Diamond-Blackfan Anemia-Like

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
Content
Loading form....