DBA6
MCID: DMN021
MIFTS: 37

Diamond-Blackfan Anemia 6 (DBA6)

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

Aliases & Classifications for Diamond-Blackfan Anemia 6

MalaCards integrated aliases for Diamond-Blackfan Anemia 6:

Name: Diamond-Blackfan Anemia 6 57 12 72 29 13 6 15
Dba6 57 12 72
Aase-Smith Syndrome Ii 57 72
Aase Smith Syndrome 2 44 70
Aase Syndrome 72 70
Rpl5-Related Diamond-Blackfan Anemia 12
Anemia, Diamond-Blackfan, Type 6 39
Diamond-Blackfan Anemia 1 70

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
age at diagnosis is usually in the first year of life
most patients are steroid responsive


HPO:

31
diamond-blackfan anemia 6:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Diamond-Blackfan Anemia 6

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). (612561) (Updated 05-Apr-2021)

MalaCards based summary : Diamond-Blackfan Anemia 6, also known as dba6, is related to diamond-blackfan anemia 1 and diamond-blackfan anemia. An important gene associated with Diamond-Blackfan Anemia 6 is RPL5 (Ribosomal Protein L5). Affiliated tissues include bone marrow and bone, and related phenotypes are cleft palate and micrognathia

Disease Ontology : 12 A Diamond-Blackfan anemia that has material basis in heterozygous mutation in RPL5 on chromosome 1p22.1.

UniProtKB/Swiss-Prot : 72 Diamond-Blackfan anemia 6: 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 6

Diseases in the Diamond-Blackfan Anemia family:

Diamond-Blackfan Anemia 1 Diamond-Blackfan Anemia 2
Diamond-Blackfan Anemia 3 Diamond-Blackfan Anemia 4
Diamond-Blackfan Anemia 5 Diamond-Blackfan Anemia 6
Diamond-Blackfan Anemia 7 Diamond-Blackfan Anemia 8
Diamond-Blackfan Anemia 9 Diamond-Blackfan Anemia 10
Diamond-Blackfan Anemia 11 Diamond-Blackfan Anemia 12
Diamond-Blackfan Anemia 13 Diamond-Blackfan Anemia 16
Diamond-Blackfan Anemia 17 Diamond-Blackfan Anemia-Like
Diamond-Blackfan Anemia 18 Diamond-Blackfan Anemia 19
Diamond-Blackfan Anemia 20

Diseases related to Diamond-Blackfan Anemia 6 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 25)
# Related Disease Score Top Affiliating Genes
1 diamond-blackfan anemia 1 32.0 RPL5 HMOX1 DIPK1A
2 diamond-blackfan anemia 11.4
3 aase-smith syndrome i 11.2
4 facio skeletal genital syndrome rippberger type 11.0
5 skin hemangioma 10.0 RPL5 DIPK1A
6 hemangioma 10.0 RPL5 DIPK1A
7 hydrocele 10.0 RPL5 DIPK1A
8 pulmonary hypertension, primary, 1 10.0 RPL5 DIPK1A
9 interatrial communication 10.0 RPL5 DIPK1A
10 cleft lip 10.0
11 cleft lip/palate 10.0
12 atrial heart septal defect 9.8 RPL5 DIPK1A
13 dental pulp necrosis 9.8 IBSP BMP2
14 dental pulp disease 9.7 IBSP BMP2
15 tooth resorption 9.7 IBSP BMP2
16 ischemic bone disease 9.7 IBSP BMP2
17 ankylosis 9.7 IBSP BMP2
18 bone development disease 9.7 IBSP BMP2
19 cleidocranial dysplasia 9.7 IBSP BMP2
20 endosteal hyperostosis, autosomal dominant 9.7 IBSP BMP2
21 bone resorption disease 9.7 IBSP BMP2
22 bone remodeling disease 9.6 IBSP BMP2
23 dental caries 9.6 IBSP BMP2
24 aortic valve disease 2 9.6 IBSP BMP2
25 brittle bone disorder 9.4 IBSP BMP2

Graphical network of the top 20 diseases related to Diamond-Blackfan Anemia 6:



Diseases related to Diamond-Blackfan Anemia 6

Symptoms & Phenotypes for Diamond-Blackfan Anemia 6

Human phenotypes related to Diamond-Blackfan Anemia 6:

31 (show all 21)
# Description HPO Frequency HPO Source Accession
1 cleft palate 31 frequent (33%) HP:0000175
2 micrognathia 31 frequent (33%) HP:0000347
3 cleft upper lip 31 frequent (33%) HP:0000204
4 persistence of hemoglobin f 31 frequent (33%) HP:0011904
5 atrial septal defect 31 very rare (1%) HP:0001631
6 triphalangeal thumb 31 very rare (1%) HP:0001199
7 failure to thrive 31 HP:0001508
8 hypertelorism 31 HP:0000316
9 growth delay 31 HP:0001510
10 retrognathia 31 HP:0000278
11 mitral valve prolapse 31 HP:0001634
12 mitral regurgitation 31 HP:0001653
13 tetralogy of fallot 31 HP:0001636
14 patent ductus arteriosus 31 HP:0001643
15 ventricular septal defect 31 HP:0001629
16 short thumb 31 HP:0009778
17 tracheomalacia 31 HP:0002779
18 bifid uvula 31 HP:0000193
19 macrocytic anemia 31 HP:0001972
20 increased mean corpuscular volume 31 HP:0005518
21 ventricular hypertrophy 31 HP:0001714

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Growth Other:
failure to thrive
growth retardation

Head And Neck Mouth:
cleft palate
micrognathia
bifid uvula
cleft lip
mandibular hypoplasia with retrognathia

Skeletal Hands:
triphalangeal thumbs
hypoplastic thumbs
small extra thumbs
long proximal thumb phalanges

Hematology:
increased fetal hemoglobin
anemia, normochromic macrocytic

Head And Neck Eyes:
hypertelorism

Cardiovascular Heart:
atrial septal defect
tetralogy of fallot
patent ductus arteriosus
ventricular septal defect
ventricular hypertrophy
more
Laboratory Abnormalities:
elevated erythrocyte adenosine deaminase (eada)
iron overload (in some patients)

Respiratory Airways:
tracheomalacia (some patients)

Clinical features from OMIM®:

612561 (Updated 05-Apr-2021)

Drugs & Therapeutics for Diamond-Blackfan Anemia 6

Search Clinical Trials , NIH Clinical Center for Diamond-Blackfan Anemia 6

Cochrane evidence based reviews: aase smith syndrome 2

Genetic Tests for Diamond-Blackfan Anemia 6

Genetic tests related to Diamond-Blackfan Anemia 6:

# Genetic test Affiliating Genes
1 Diamond-Blackfan Anemia 6 29 RPL5

Anatomical Context for Diamond-Blackfan Anemia 6

MalaCards organs/tissues related to Diamond-Blackfan Anemia 6:

40
Bone Marrow, Bone

Publications for Diamond-Blackfan Anemia 6

Articles related to Diamond-Blackfan Anemia 6:

# Title Authors PMID Year
1
Target enrichment and high-throughput sequencing of 80 ribosomal protein genes to identify mutations associated with Diamond-Blackfan anaemia. 57 6
23718193 2013
2
Ribosomal protein L5 and L11 mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patients. 57 6
19061985 2008
3
Congenital anemia and triphalangeal thumbs: a new syndrome. 6 57
5764780 1969
4
Novel deletion of RPL15 identified by array-comparative genomic hybridization in Diamond-Blackfan anemia. 57
23812780 2013
5
Autosomal dominant transmission of congenital erythroid hypoplastic anemia with radial abnormalities. 57
1746615 1991
6
Thumbs and anemia. 57
714597 1978
7
Telomere length in blood, buccal cells, and fibroblasts from patients with inherited bone marrow failure syndromes. 61
21113082 2010
8
Frequency and natural history of inherited bone marrow failure syndromes: the Israeli Inherited Bone Marrow Failure Registry. 61
20435624 2010

Variations for Diamond-Blackfan Anemia 6

ClinVar genetic disease variations for Diamond-Blackfan Anemia 6:

6 (show top 50) (show all 51)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 DIPK1A , RPL5 NM_000969.5(RPL5):c.189+267G>C SNV association 869112 rs138979590 GRCh37: 1:93299484-93299484
GRCh38: 1:92833927-92833927
2 DIPK1A , RPL5 NM_000969.5(RPL5):c.268del (p.Val90fs) Deletion Pathogenic 930202 GRCh37: 1:93300413-93300413
GRCh38: 1:92834856-92834856
3 DIPK1A , RPL5 NM_000969.5(RPL5):c.173_174GA[1] (p.Asp59fs) Microsatellite Pathogenic 662012 rs1571024430 GRCh37: 1:93299200-93299201
GRCh38: 1:92833643-92833644
4 DIPK1A , RPL5 NM_000969.5(RPL5):c.459_460insTGAA (p.Thr154Ter) Insertion Pathogenic 1030925 GRCh37: 1:93301881-93301882
GRCh38: 1:92836324-92836325
5 DIPK1A , RPL5 NM_000969.5(RPL5):c.235dup (p.Tyr79fs) Duplication Pathogenic 6182 rs1571026775 GRCh37: 1:93300380-93300381
GRCh38: 1:92834823-92834824
6 RPL5 RPL5, 5-BP DEL/39-BP INS, NT498 Indel Pathogenic 6183 GRCh37:
GRCh38:
7 DIPK1A , RPL5 NM_000969.5(RPL5):c.73+2T>G SNV Pathogenic 6184 rs142156224 GRCh37: 1:93299017-93299017
GRCh38: 1:92833460-92833460
8 DIPK1A , RPL5 NM_000969.5(RPL5):c.244G>T (p.Glu82Ter) SNV Pathogenic 100638 rs587777117 GRCh37: 1:93300390-93300390
GRCh38: 1:92834833-92834833
9 DIPK1A , RPL5 NM_000969.5(RPL5):c.664C>T (p.Gln222Ter) SNV Pathogenic 100639 rs587777118 GRCh37: 1:93303149-93303149
GRCh38: 1:92837592-92837592
10 DIPK1A , RPL5 NM_000969.5(RPL5):c.692dup (p.Thr232fs) Duplication Pathogenic 692051 rs1571032029 GRCh37: 1:93303176-93303177
GRCh38: 1:92837619-92837620
11 overlap with 17 genes GRCh37/hg19 1p22.1(chr1:92405898-94018197)x1 copy number loss Pathogenic 981207 GRCh37: 1:92405898-94018197
GRCh38:
12 DIPK1A , RPL5 NM_000969.5(RPL5):c.67C>T (p.Arg23Ter) SNV Pathogenic 6179 rs121434405 GRCh37: 1:93299009-93299009
GRCh38: 1:92833452-92833452
13 DIPK1A , RPL5 NM_000969.5(RPL5):c.189+267G>C SNV risk factor 830069 rs138979590 GRCh37: 1:93299484-93299484
GRCh38: 1:92833927-92833927
14 DIPK1A , RPL5 NM_000969.5(RPL5):c.189+2T>G SNV Likely pathogenic 986789 GRCh37: 1:93299219-93299219
GRCh38: 1:92833662-92833662
15 DIPK1A , RPL5 NM_000969.5(RPL5):c.403A>G (p.Ile135Val) SNV Conflicting interpretations of pathogenicity 298211 rs200075817 GRCh37: 1:93301825-93301825
GRCh38: 1:92836268-92836268
16 DIPK1A , RPL5 NM_000969.5(RPL5):c.890_893dup (p.Ter298=) Duplication Uncertain significance 998357 GRCh37: 1:93307416-93307417
GRCh38: 1:92841859-92841860
17 DIPK1A , RPL5 NM_000969.5(RPL5):c.642A>T (p.Glu214Asp) SNV Uncertain significance 876583 GRCh37: 1:93303127-93303127
GRCh38: 1:92837570-92837570
18 DIPK1A , RPL5 NM_000969.5(RPL5):c.400A>C (p.Ser134Arg) SNV Uncertain significance 876582 GRCh37: 1:93301822-93301822
GRCh38: 1:92836265-92836265
19 DIPK1A , RPL5 NM_000969.5(RPL5):c.418G>A (p.Gly140Ser) SNV Uncertain significance 6180 rs121434406 GRCh37: 1:93301840-93301840
GRCh38: 1:92836283-92836283
20 DIPK1A , RPL5 NM_000969.5(RPL5):c.701A>G (p.Asp234Gly) SNV Uncertain significance 638531 rs576330538 GRCh37: 1:93303186-93303186
GRCh38: 1:92837629-92837629
21 DIPK1A , RPL5 NM_000969.5(RPL5):c.103C>T (p.Arg35Cys) SNV Uncertain significance 988012 GRCh37: 1:93299131-93299131
GRCh38: 1:92833574-92833574
22 RPL5 NM_000969.5(RPL5):c.-74C>A SNV Uncertain significance 873660 GRCh37: 1:93297598-93297598
GRCh38: 1:92832041-92832041
23 RPL5 NM_000969.5(RPL5):c.-64C>G SNV Uncertain significance 873661 GRCh37: 1:93297608-93297608
GRCh38: 1:92832051-92832051
24 RPL5 NM_000969.5(RPL5):c.3+11G>C SNV Uncertain significance 874647 GRCh37: 1:93297685-93297685
GRCh38: 1:92832128-92832128
25 DIPK1A , RPL5 NM_000969.5(RPL5):c.4-10T>C SNV Uncertain significance 875588 GRCh37: 1:93298936-93298936
GRCh38: 1:92833379-92833379
26 DIPK1A , RPL5 NM_000969.5(RPL5):c.228C>T (p.Cys76=) SNV Uncertain significance 416949 rs370284124 GRCh37: 1:93300374-93300374
GRCh38: 1:92834817-92834817
27 RPL5 NM_000969.5(RPL5):c.-2G>A SNV Uncertain significance 298207 rs886046558 GRCh37: 1:93297670-93297670
GRCh38: 1:92832113-92832113
28 RPL5 NM_000969.5(RPL5):c.-70T>A SNV Uncertain significance 298196 rs551112484 GRCh37: 1:93297602-93297602
GRCh38: 1:92832045-92832045
29 RPL5 NM_000969.5(RPL5):c.-46C>G SNV Uncertain significance 298202 rs376208311 GRCh37: 1:93297626-93297626
GRCh38: 1:92832069-92832069
30 DIPK1A , RPL5 NM_000969.5(RPL5):c.202C>T (p.Arg68Cys) SNV Uncertain significance 298209 rs750383596 GRCh37: 1:93300348-93300348
GRCh38: 1:92834791-92834791
31 DIPK1A , RPL5 NM_000969.5(RPL5):c.118G>A (p.Asp40Asn) SNV Uncertain significance 523014 rs1553285006 GRCh37: 1:93299146-93299146
GRCh38: 1:92833589-92833589
32 RPL5 NM_000969.5(RPL5):c.-62C>G SNV Likely benign 298197 rs368663464 GRCh37: 1:93297610-93297610
GRCh38: 1:92832053-92832053
33 RPL5 NM_000969.5(RPL5):c.-6C>T SNV Likely benign 298206 rs199523145 GRCh37: 1:93297666-93297666
GRCh38: 1:92832109-92832109
34 RPL5 NM_000969.5(RPL5):c.-38C>T SNV Likely benign 298204 rs372080902 GRCh37: 1:93297634-93297634
GRCh38: 1:92832077-92832077
35 RPL5 NM_000969.5(RPL5):c.3+3G>C SNV Benign/Likely benign 281749 rs200628272 GRCh37: 1:93297677-93297677
GRCh38: 1:92832120-92832120
36 RPL5 NM_000969.5(RPL5):c.-18C>A SNV Benign 298205 rs201295012 GRCh37: 1:93297654-93297654
GRCh38: 1:92832097-92832097
37 DIPK1A , RPL5 NM_000969.5(RPL5):c.325-11T>G SNV Benign 298210 rs145058455 GRCh37: 1:93301736-93301736
GRCh38: 1:92836179-92836179
38 RPL5 NM_000969.5(RPL5):c.-55C>G SNV Benign 298199 rs116168890 GRCh37: 1:93297617-93297617
GRCh38: 1:92832060-92832060
39 DIPK1A , RPL5 NM_000969.5(RPL5):c.781G>C (p.Val261Leu) SNV Benign 298212 rs773839391 GRCh37: 1:93306183-93306183
GRCh38: 1:92840626-92840626
40 RPL5 NM_000969.5(RPL5):c.-52C>G SNV Benign 298200 rs143326916 GRCh37: 1:93297620-93297620
GRCh38: 1:92832063-92832063
41 RPL5 NM_000969.5(RPL5):c.3+13C>T SNV Benign 298208 rs189107197 GRCh37: 1:93297687-93297687
GRCh38: 1:92832130-92832130
42 RPL5 NM_000969.5(RPL5):c.-42A>C SNV Benign 298203 rs145634330 GRCh37: 1:93297630-93297630
GRCh38: 1:92832073-92832073
43 RPL5 NM_000969.5(RPL5):c.-58G>T SNV Benign 298198 rs200437092 GRCh37: 1:93297614-93297614
GRCh38: 1:92832057-92832057
44 RPL5 NM_000969.5(RPL5):c.-48G>A SNV Benign 298201 rs376070413 GRCh37: 1:93297624-93297624
GRCh38: 1:92832067-92832067
45 DIPK1A , RPL5 NM_000969.5(RPL5):c.846A>G (p.Gln282=) SNV Benign 298214 rs376641112 GRCh37: 1:93307374-93307374
GRCh38: 1:92841817-92841817
46 DIPK1A , RPL5 NM_000969.5(RPL5):c.258T>C (p.Tyr86=) SNV Benign 238197 rs113792800 GRCh37: 1:93300404-93300404
GRCh38: 1:92834847-92834847
47 DIPK1A , RPL5 NM_000969.5(RPL5):c.324+14G>T SNV Benign 875589 GRCh37: 1:93300484-93300484
GRCh38: 1:92834927-92834927
48 DIPK1A , RPL5 NM_000969.5(RPL5):c.*47T>C SNV Benign 876584 GRCh37: 1:93307469-93307469
GRCh38: 1:92841912-92841912
49 RPL5 NM_000969.5(RPL5):c.3+12C>T SNV Benign 875587 GRCh37: 1:93297686-93297686
GRCh38: 1:92832129-92832129
50 DIPK1A , RPL5 NM_000969.5(RPL5):c.165G>A (p.Val55=) SNV Benign 238196 rs58263806 GRCh37: 1:93299193-93299193
GRCh38: 1:92833636-92833636

UniProtKB/Swiss-Prot genetic disease variations for Diamond-Blackfan Anemia 6:

72
# Symbol AA change Variation ID SNP ID
1 RPL5 p.Gly140Ser VAR_055450 rs121434406
2 RPL5 p.Ala285Val VAR_055451

Expression for Diamond-Blackfan Anemia 6

Search GEO for disease gene expression data for Diamond-Blackfan Anemia 6.

Pathways for Diamond-Blackfan Anemia 6

GO Terms for Diamond-Blackfan Anemia 6

Biological processes related to Diamond-Blackfan Anemia 6 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 response to hypoxia GO:0001666 9.32 HMOX1 BMP2
2 ossification GO:0001503 9.26 IBSP BMP2
3 osteoblast differentiation GO:0001649 9.16 IBSP BMP2
4 cellular response to growth factor stimulus GO:0071363 8.96 IBSP BMP2
5 bone mineralization GO:0030282 8.62 IBSP BMP2

Sources for Diamond-Blackfan Anemia 6

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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