MCID: DMN020
MIFTS: 21

Diamond-Blackfan Anemia 8

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

Aliases & Classifications for Diamond-Blackfan Anemia 8

MalaCards integrated aliases for Diamond-Blackfan Anemia 8:

Name: Diamond-Blackfan Anemia 8 57 75 29 13 6 73
Dba8 57 75
Anemia, Diamond-Blackfan, Type 8 40

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
diamond-blackfan anemia 8:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Diamond-Blackfan Anemia 8

OMIM : 57 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. An important gene associated with Diamond-Blackfan Anemia 8 is RPS7 (Ribosomal Protein S7). Affiliated tissues include bone, bone marrow and heart, and related phenotypes are thick upper lip vermilion and hypertelorism

UniProtKB/Swiss-Prot : 75 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:

57
Hematology:
neutropenia (patient a)
congenital anemia

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)

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

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


Clinical features from OMIM:

612563

Human phenotypes related to Diamond-Blackfan Anemia 8:

32 (show all 8)
# Description HPO Frequency HPO Source Accession
1 thick upper lip vermilion 32 HP:0000215
2 hypertelorism 32 HP:0000316
3 wide nasal bridge 32 HP:0000431
4 neutropenia 32 HP:0001875
5 macrocytic anemia 32 very rare (1%) HP:0001972
6 short nose 32 HP:0003196
7 short stature 32 HP:0004322
8 increased mean corpuscular volume 32 very rare (1%) HP:0005518

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 29 RPS7

Anatomical Context for Diamond-Blackfan Anemia 8

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

41
Bone, Bone Marrow, Heart, Eye

Publications for Diamond-Blackfan Anemia 8

Variations for Diamond-Blackfan Anemia 8

ClinVar genetic disease variations for Diamond-Blackfan Anemia 8:

6
(show all 12)
# 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.147+1G> A single nucleotide variant Pathogenic rs397507554 GRCh38 Chromosome 2, 3575889: 3575889
3 RPS7 NM_001011.3(RPS7): c.76-1G> T single nucleotide variant Pathogenic rs1057519624 GRCh37 Chromosome 2, 3623406: 3623406
4 RPS7 NM_001011.3(RPS7): c.76-1G> T single nucleotide variant Pathogenic rs1057519624 GRCh38 Chromosome 2, 3575816: 3575816
5 RPS7 NM_001011.3(RPS7): c.273T> C (p.His91=) single nucleotide variant Likely benign GRCh37 Chromosome 2, 3624202: 3624202
6 RPS7 NM_001011.3(RPS7): c.273T> C (p.His91=) single nucleotide variant Likely benign GRCh38 Chromosome 2, 3576612: 3576612
7 RPS7 NM_001011.3(RPS7): c.357-3dup duplication Benign GRCh37 Chromosome 2, 3627697: 3627697
8 RPS7 NM_001011.3(RPS7): c.357-3dup duplication Benign GRCh38 Chromosome 2, 3580107: 3580107
9 RPS7 NM_001011.4(RPS7): c.277_279del (p.Val93del) deletion Uncertain significance GRCh38 Chromosome 2, 3576616: 3576618
10 RPS7 NM_001011.4(RPS7): c.277_279del (p.Val93del) deletion Uncertain significance GRCh37 Chromosome 2, 3624206: 3624208
11 RPS7 NM_001011.4(RPS7): c.435C> T (p.Arg145=) single nucleotide variant Likely benign rs142207795 GRCh37 Chromosome 2, 3627778: 3627778
12 RPS7 NM_001011.4(RPS7): c.435C> T (p.Arg145=) single nucleotide variant Likely benign rs142207795 GRCh38 Chromosome 2, 3580188: 3580188

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
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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