DBA8
MCID: DMN020
MIFTS: 26

Diamond-Blackfan Anemia 8 (DBA8)

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

Aliases & Classifications for Diamond-Blackfan Anemia 8

MalaCards integrated aliases for Diamond-Blackfan Anemia 8:

Name: Diamond-Blackfan Anemia 8 57 12 72 29 13 6 44 70
Dba8 57 12 72
Rps7-Related Diamond-Blackfan Anemia 12
Anemia, Diamond-Blackfan, Type 8 39

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
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:



External Ids:

Disease Ontology 12 DOID:0111881
OMIM® 57 612563
OMIM Phenotypic Series 57 PS105650
MedGen 41 C2675511
UMLS 70 C2675511

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) (Updated 05-Apr-2021)

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 marrow, and related phenotypes are macrocytic anemia and increased mean corpuscular volume

Disease Ontology : 12 A Diamond-Blackfan anemia that has material basis in heterozygous mutation in RPS7 on chromosome 2p25.3.

UniProtKB/Swiss-Prot : 72 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

Human phenotypes related to Diamond-Blackfan Anemia 8:

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

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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 (Updated 05-Apr-2021)

Drugs & Therapeutics for Diamond-Blackfan Anemia 8

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

Cochrane evidence based reviews: 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:

40
Bone Marrow

Publications for Diamond-Blackfan Anemia 8

Articles related to Diamond-Blackfan Anemia 8:

# Title Authors PMID Year
1
Diagnostic challenge of Diamond-Blackfan anemia in mothers and children by whole-exome sequencing. 57 6
27882484 2017
2
Target enrichment and high-throughput sequencing of 80 ribosomal protein genes to identify mutations associated with Diamond-Blackfan anaemia. 57 6
23718193 2013
3
Ribosomal protein L5 and L11 mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patients. 57 6
19061985 2008
4
Clinical utility of next-generation sequencing for inherited bone marrow failure syndromes. 6
28102861 2017
5
Loss of function mutations in RPL27 and RPS27 identified by whole-exome sequencing in Diamond-Blackfan anaemia. 6
25424902 2015
6
Novel deletion of RPL15 identified by array-comparative genomic hybridization in Diamond-Blackfan anemia. 57
23812780 2013
7
Occupational exposures to noise resulting from the workplace use of personal media players at a manufacturing facility. 61
22937995 2012

Variations for Diamond-Blackfan Anemia 8

ClinVar genetic disease variations for Diamond-Blackfan Anemia 8:

6 (show all 39)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 RPS7 NM_001011.4(RPS7):c.147+1G>A SNV Pathogenic 6150 rs397507554 GRCh37: 2:3623479-3623479
GRCh38: 2:3575889-3575889
2 RPS7 NM_001011.4(RPS7):c.76-1G>T SNV Pathogenic 372193 rs1057519624 GRCh37: 2:3623406-3623406
GRCh38: 2:3575816-3575816
3 RPS7 NM_001011.4(RPS7):c.75+1G>A SNV Pathogenic 1031721 GRCh37: 2:3623275-3623275
GRCh38: 2:3575685-3575685
4 RPS7 NM_001011.4(RPS7):c.-19+1G>A SNV Pathogenic 975849 GRCh37: 2:3622941-3622941
GRCh38: 2:3575351-3575351
5 RPS7 NM_001011.4(RPS7):c.508-3T>G SNV Likely pathogenic 692152 rs1572360944 GRCh37: 2:3628392-3628392
GRCh38: 2:3580802-3580802
6 RPS7 NM_001011.4(RPS7):c.274_276GTC[1] (p.Val93del) Microsatellite Uncertain significance 537186 rs1553342919 GRCh37: 2:3624203-3624205
GRCh38: 2:3576613-3576615
7 RPS7 NM_001011.4(RPS7):c.-27C>T SNV Uncertain significance 335898 rs573443780 GRCh37: 2:3622932-3622932
GRCh38: 2:3575342-3575342
8 RPS7 NM_001011.4(RPS7):c.-13C>T SNV Uncertain significance 335901 rs765604580 GRCh37: 2:3623187-3623187
GRCh38: 2:3575597-3575597
9 RPS7 NM_001011.4(RPS7):c.-44C>T SNV Uncertain significance 335896 rs563293592 GRCh37: 2:3622915-3622915
GRCh38: 2:3575325-3575325
10 RPS7 NM_001011.4(RPS7):c.-23G>A SNV Uncertain significance 335899 rs886055985 GRCh37: 2:3622936-3622936
GRCh38: 2:3575346-3575346
11 RPS7 NM_001011.4(RPS7):c.-86C>T SNV Uncertain significance 335894 rs186304514 GRCh37: 2:3622873-3622873
GRCh38: 2:3575283-3575283
12 RPS7 NM_001011.4(RPS7):c.-3G>A SNV Uncertain significance 1028444 GRCh37: 2:3623197-3623197
GRCh38: 2:3575607-3575607
13 RPS7 NM_001011.4(RPS7):c.356+3G>A SNV Uncertain significance 1024764 GRCh37: 2:3625367-3625367
GRCh38: 2:3577777-3577777
14 RPS7 NM_001011.4(RPS7):c.406C>G (p.Pro136Ala) SNV Uncertain significance 855605 GRCh37: 2:3627749-3627749
GRCh38: 2:3580159-3580159
15 RPS7 NM_001011.4(RPS7):c.433C>T (p.Arg145Cys) SNV Uncertain significance 577746 rs200400906 GRCh37: 2:3627776-3627776
GRCh38: 2:3580186-3580186
16 RPS7 NM_001011.4(RPS7):c.518T>C (p.Phe173Ser) SNV Uncertain significance 579378 rs1558474062 GRCh37: 2:3628405-3628405
GRCh38: 2:3580815-3580815
17 RPS7 NM_001011.4(RPS7):c.519T>A (p.Phe173Leu) SNV Uncertain significance 638493 rs1572360947 GRCh37: 2:3628406-3628406
GRCh38: 2:3580816-3580816
18 RPS7 NM_001011.4(RPS7):c.34A>C (p.Asn12His) SNV Uncertain significance 955608 GRCh37: 2:3623233-3623233
GRCh38: 2:3575643-3575643
19 RPS7 NM_001011.4(RPS7):c.39C>T (p.Gly13=) SNV Uncertain significance 335902 rs746686516 GRCh37: 2:3623238-3623238
GRCh38: 2:3575648-3575648
20 RPS7 NM_001011.4(RPS7):c.133A>G (p.Ile45Val) SNV Uncertain significance 962784 GRCh37: 2:3623464-3623464
GRCh38: 2:3575874-3575874
21 RPS7 NM_001011.4(RPS7):c.137C>T (p.Thr46Met) SNV Uncertain significance 942955 GRCh37: 2:3623468-3623468
GRCh38: 2:3575878-3575878
22 RPS7 NM_001011.4(RPS7):c.35A>G (p.Asn12Ser) SNV Uncertain significance 998359 GRCh37: 2:3623234-3623234
GRCh38: 2:3575644-3575644
23 RPS7 NC_000002.11:g.(?_3622941)_(3628472_?)dup Duplication Uncertain significance 1014731 GRCh37: 2:3622941-3628472
GRCh38:
24 RPS7 NM_001011.4(RPS7):c.113C>T (p.Ala38Val) SNV Uncertain significance 1037436 GRCh37: 2:3623444-3623444
GRCh38: 2:3575854-3575854
25 RPS7 NM_001011.4(RPS7):c.157G>A (p.Val53Ile) SNV Uncertain significance 1040145 GRCh37: 2:3624086-3624086
GRCh38: 2:3576496-3576496
26 RPS7 NM_001011.4(RPS7):c.580T>C (p.Leu194=) SNV Uncertain significance 897960 GRCh37: 2:3628467-3628467
GRCh38: 2:3580877-3580877
27 RPS7 NM_001011.4(RPS7):c.75+13C>T SNV Likely benign 335903 rs751796318 GRCh37: 2:3623287-3623287
GRCh38: 2:3575697-3575697
28 RPS7 NM_001011.4(RPS7):c.292-9A>T SNV Likely benign 335904 rs746941533 GRCh37: 2:3625291-3625291
GRCh38: 2:3577701-3577701
29 RPS7 NM_001011.4(RPS7):c.273T>C (p.His91=) SNV Likely benign 469407 rs1442216854 GRCh37: 2:3624202-3624202
GRCh38: 2:3576612-3576612
30 RPS7 NM_001011.4(RPS7):c.357-10A>G SNV Likely benign 695426 rs202032908 GRCh37: 2:3627690-3627690
GRCh38: 2:3580100-3580100
31 RPS7 NM_001011.4(RPS7):c.378C>T (p.His126=) SNV Likely benign 701700 rs764498089 GRCh37: 2:3627721-3627721
GRCh38: 2:3580131-3580131
32 RPS7 NM_001011.4(RPS7):c.102G>A (p.Ser34=) SNV Likely benign 701730 rs754617897 GRCh37: 2:3623433-3623433
GRCh38: 2:3575843-3575843
33 RPS7 NM_001011.4(RPS7):c.435C>T (p.Arg145=) SNV Benign/Likely benign 537187 rs142207795 GRCh37: 2:3627778-3627778
GRCh38: 2:3580188-3580188
34 RPS7 NM_001011.4(RPS7):c.*31C>T SNV Benign 335906 rs191506876 GRCh37: 2:3628503-3628503
GRCh38: 2:3580913-3580913
35 RPS7 NM_001011.4(RPS7):c.357-3dup Duplication Benign 469408 rs140914434 GRCh37: 2:3627693-3627694
GRCh38: 2:3580103-3580104
36 RPS7 NM_001011.4(RPS7):c.-36A>C SNV Benign 335897 rs17552296 GRCh37: 2:3622923-3622923
GRCh38: 2:3575333-3575333
37 RPS7 NM_001011.4(RPS7):c.-19+13C>T SNV Benign 335900 rs530845583 GRCh37: 2:3622953-3622953
GRCh38: 2:3575363-3575363
38 RPS7 NM_001011.4(RPS7):c.-47G>T SNV Benign 335895 rs11558965 GRCh37: 2:3622912-3622912
GRCh38: 2:3575322-3575322
39 RPS7 NM_001011.4(RPS7):c.508-12C>A SNV Benign 335905 rs2071639 GRCh37: 2:3628383-3628383
GRCh38: 2:3580793-3580793

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 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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