MCID: DMN022
MIFTS: 25

Diamond-Blackfan Anemia 9

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

Aliases & Classifications for Diamond-Blackfan Anemia 9

MalaCards integrated aliases for Diamond-Blackfan Anemia 9:

Name: Diamond-Blackfan Anemia 9 57 75 29 13 6 73
Dba9 57 75
Anemia, Diamond-Blackfan, Type 9 40

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
some patients are steroid responsive
age at diagnosis ranged from birth to 12 years
limited clinical information provided


HPO:

32
diamond-blackfan anemia 9:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Diamond-Blackfan Anemia 9

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). (613308)

MalaCards based summary : Diamond-Blackfan Anemia 9, also known as dba9, is related to diamond-blackfan anemia. An important gene associated with Diamond-Blackfan Anemia 9 is RPS10 (Ribosomal Protein S10). Affiliated tissues include heart, bone and bone marrow, and related phenotypes are webbed neck and growth delay

UniProtKB/Swiss-Prot : 75 Diamond-Blackfan anemia 9: 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 9

Symptoms & Phenotypes for Diamond-Blackfan Anemia 9

Symptoms via clinical synopsis from OMIM:

57
Growth Other:
growth retardation

Head And Neck Neck:
webbed neck (rare)

Laboratory Abnormalities:
vitamin d deficiency

Head And Neck Face:
cathie facies

Hematology:
anemia


Clinical features from OMIM:

613308

Human phenotypes related to Diamond-Blackfan Anemia 9:

32
# Description HPO Frequency HPO Source Accession
1 webbed neck 32 occasional (7.5%) HP:0000465
2 growth delay 32 HP:0001510
3 anemia 32 HP:0001903
4 vitamin d deficiency 32 HP:0100512

GenomeRNAi Phenotypes related to Diamond-Blackfan Anemia 9 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-11 10.02 RPS10-NUDT3 RPS10
2 Increased shRNA abundance (Z-score > 2) GR00366-A-177 10.02 RPS10-NUDT3 RPS10
3 Increased shRNA abundance (Z-score > 2) GR00366-A-29 10.02 RPS10-NUDT3 RPS10
4 Increased shRNA abundance (Z-score > 2) GR00366-A-73 10.02 RPS10 RPS10-NUDT3
5 Increased shRNA abundance (Z-score > 2) GR00366-A-81 10.02 RPS10-NUDT3 RPS10
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-213 9.91 RPS10 RPS10-NUDT3
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-72 9.91 RPS10 RPS10-NUDT3
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-87 9.91 RPS10 RPS10-NUDT3

Drugs & Therapeutics for Diamond-Blackfan Anemia 9

Search Clinical Trials , NIH Clinical Center for Diamond-Blackfan Anemia 9

Genetic Tests for Diamond-Blackfan Anemia 9

Genetic tests related to Diamond-Blackfan Anemia 9:

# Genetic test Affiliating Genes
1 Diamond-Blackfan Anemia 9 29 RPS10

Anatomical Context for Diamond-Blackfan Anemia 9

MalaCards organs/tissues related to Diamond-Blackfan Anemia 9:

41
Heart, Bone, Bone Marrow

Publications for Diamond-Blackfan Anemia 9

Variations for Diamond-Blackfan Anemia 9

ClinVar genetic disease variations for Diamond-Blackfan Anemia 9:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 RPS10 NM_001014.4(RPS10): c.3G> A (p.Met1Ile) single nucleotide variant Pathogenic rs267607021 GRCh37 Chromosome 6, 34392996: 34392996
2 RPS10 NM_001014.4(RPS10): c.3G> A (p.Met1Ile) single nucleotide variant Pathogenic rs267607021 GRCh38 Chromosome 6, 34425219: 34425219
3 RPS10 RPS10, 1-BP INS, 260C insertion Pathogenic
4 RPS10 NM_001014.4(RPS10): c.337C> T (p.Arg113Ter) single nucleotide variant Pathogenic rs267607022 GRCh37 Chromosome 6, 34389570: 34389570
5 RPS10 NM_001014.4(RPS10): c.337C> T (p.Arg113Ter) single nucleotide variant Pathogenic rs267607022 GRCh38 Chromosome 6, 34421793: 34421793
6 RPS10 NM_001014.4(RPS10): c.322+2_322+4dupTAT duplication Uncertain significance GRCh37 Chromosome 6, 34392442: 34392444
7 RPS10 NM_001014.4(RPS10): c.322+2_322+4dupTAT duplication Uncertain significance GRCh38 Chromosome 6, 34424665: 34424667

Expression for Diamond-Blackfan Anemia 9

Search GEO for disease gene expression data for Diamond-Blackfan Anemia 9.

Pathways for Diamond-Blackfan Anemia 9

GO Terms for Diamond-Blackfan Anemia 9

Cellular components related to Diamond-Blackfan Anemia 9 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytosolic small ribosomal subunit GO:0022627 8.62 RPS10 RPS10-NUDT3

Molecular functions related to Diamond-Blackfan Anemia 9 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 structural constituent of ribosome GO:0003735 8.62 RPS10 RPS10-NUDT3

Sources for Diamond-Blackfan Anemia 9

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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