MCID: DMN020
MIFTS: 21

Diamond-Blackfan Anemia 8

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

Aliases & Classifications for Diamond-Blackfan Anemia 8

MalaCards integrated aliases for Diamond-Blackfan Anemia 8:

Name: Diamond-Blackfan Anemia 8 53 71 28 13 69
Dba8 53 71

Characteristics:

OMIM:

53
Inheritance:
autosomal dominant

Miscellaneous:
based on reports of 3 patients (last curated december 2016)
some patients exhibit no dysmorphic features


HPO:

31
diamond-blackfan anemia 8:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Diamond-Blackfan Anemia 8

OMIM : 53 Diamond-Blackfan anemia (DBA) is an inherited red blood cell aplasia that usually presents in the first year of life. The main features are normochromic macrocytic anemia, reticulocytopenia, and nearly absent erythroid progenitors in the bone marrow. Patients show growth retardation, and approximately 30 to 50% have craniofacial, upper limb, heart, and urinary system congenital malformations. The majority of patients have increased mean corpuscular volume, elevated erythrocyte adenosine deaminase activity, and persistence of hemoglobin F. However, some DBA patients do not exhibit these findings, and even in the same family, symptoms can vary between affected family members (summary by Landowski et al., 2013). For a discussion of genetic heterogeneity of Diamond-Blackfan anemia, see DBA1 (105650). (612563)

MalaCards based summary : Diamond-Blackfan Anemia 8, is also known as dba8, and has symptoms including hypertelorism, wide nasal bridge and short nose. An important gene associated with Diamond-Blackfan Anemia 8 is RPS7 (Ribosomal Protein S7). Affiliated tissues include bone, heart and bone marrow.

UniProtKB/Swiss-Prot : 71 Diamond-Blackfan anemia 8: 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.

Related Diseases for Diamond-Blackfan Anemia 8

Symptoms & Phenotypes for Diamond-Blackfan Anemia 8

Symptoms via clinical synopsis from OMIM:

53
Growth Height:
short stature (in 2 of 3 patients)

Head And Neck Face:
cathie facies (patient a)

Head And Neck Nose:
short nose (patient a)
broad nasal bridge (patient a)

Abdomen Liver:
hepatic iron overload, mild

Laboratory Abnormalities:
mild hepatic iron overload (patient a)
elevated adenosine deaminase (ada) activity
elevated levels of reduced glutathione (gsh)

Growth Other:
growth retardation (in 2 of 3 patients)

Head And Neck Eyes:
widely spaced eyes (patient a)

Head And Neck Mouth:
thick upper lip (patient a)

Hematology:
congenital anemia
neutropenia (patient a)


Clinical features from OMIM:

612563

Human phenotypes related to Diamond-Blackfan Anemia 8:

31 (show all 8)
# Description HPO Frequency HPO Source Accession
1 hypertelorism 31 HP:0000316
2 wide nasal bridge 31 HP:0000431
3 short nose 31 HP:0003196
4 short stature 31 HP:0004322
5 increased mean corpuscular volume 31 very rare (1%) HP:0005518
6 neutropenia 31 HP:0001875
7 thick upper lip vermilion 31 HP:0000215
8 macrocytic anemia 31 very rare (1%) HP:0001972

Drugs & Therapeutics for Diamond-Blackfan Anemia 8

Search Clinical Trials , NIH Clinical Center for Diamond-Blackfan Anemia 8

Genetic Tests for Diamond-Blackfan Anemia 8

Genetic tests related to Diamond-Blackfan Anemia 8:

# Genetic test Affiliating Genes
1 Diamond-Blackfan Anemia 8 28 RPS7

Anatomical Context for Diamond-Blackfan Anemia 8

MalaCards organs/tissues related to Diamond-Blackfan Anemia 8:

38
Bone, Heart, Bone Marrow, Eye

Publications for Diamond-Blackfan Anemia 8

Variations for Diamond-Blackfan Anemia 8

ClinVar genetic disease variations for Diamond-Blackfan Anemia 8:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 RPS7 NM_001011.3(RPS7): c.147+1G> A single nucleotide variant Pathogenic rs397507554 GRCh37 Chromosome 2, 3623479: 3623479
2 RPS7 NM_001011.3(RPS7): c.76-1G> T single nucleotide variant Pathogenic rs1057519624 GRCh37 Chromosome 2, 3623406: 3623406

Expression for Diamond-Blackfan Anemia 8

Search GEO for disease gene expression data for Diamond-Blackfan Anemia 8.

Pathways for Diamond-Blackfan Anemia 8

GO Terms for Diamond-Blackfan Anemia 8

Sources for Diamond-Blackfan Anemia 8

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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