DBA5
MCID: DMN018
MIFTS: 40

Diamond-Blackfan Anemia 5 (DBA5)

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

Aliases & Classifications for Diamond-Blackfan Anemia 5

MalaCards integrated aliases for Diamond-Blackfan Anemia 5:

Name: Diamond-Blackfan Anemia 5 57 12 72 29 13 6 44 15 70
Dba5 57 12 72
Rpl35a-Related Diamond-Blackfan Anemia 12
Anemia, Diamond-Blackfan, Type 5 39

Characteristics:

OMIM®:

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

Miscellaneous:
onset in infancy
some patients are steroid responsive
subclinical presentation in some patients


HPO:

31
diamond-blackfan anemia 5:
Inheritance autosomal dominant inheritance
Onset and clinical course infantile onset


Classifications:



External Ids:

Disease Ontology 12 DOID:0111883
OMIM® 57 612528
OMIM Phenotypic Series 57 PS105650
MedGen 41 C2675859
UMLS 70 C2675859

Summaries for Diamond-Blackfan Anemia 5

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). (612528) (Updated 05-Apr-2021)

MalaCards based summary : Diamond-Blackfan Anemia 5, also known as dba5, is related to inhibited male orgasm and kleptomania. An important gene associated with Diamond-Blackfan Anemia 5 is RPL35A (Ribosomal Protein L35a), and among its related pathways/superpathways are Relaxin signaling pathway and Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers. Affiliated tissues include bone marrow, and related phenotypes are global developmental delay and hypertelorism

Disease Ontology : 12 A Diamond-Blackfan anemia that has material basis in heterozygous mutation in RPL35A on chromosome 3q29.

UniProtKB/Swiss-Prot : 72 Diamond-Blackfan anemia 5: 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 5

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 5 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 104)
# Related Disease Score Top Affiliating Genes
1 inhibited male orgasm 10.2 SLC6A4 HTR1A
2 kleptomania 10.2 SLC6A4 HTR1A
3 somatization disorder 10.2 SLC6A4 HTR1A
4 psychosexual disorder 10.2 SLC6A4 HTR1A
5 amphetamine abuse 10.2 SLC6A4 PVALB
6 intermittent explosive disorder 10.2 SLC6A4 HTR1A
7 space motion sickness 10.2 PPY FOS
8 substance-induced psychosis 10.2 SLC6A4 HTR1A
9 atypical depressive disorder 10.2 SLC6A4 HTR1A
10 motion sickness 10.2 HTR1A FOS
11 neurotic disorder 10.1 SLC6A4 HTR1A
12 hypochondriasis 10.1 SLC6A4 HTR1A
13 auditory system benign neoplasm 10.1 SYP PPY
14 auditory system cancer 10.1 SYP PPY
15 middle ear adenoma 10.1 SYP PPY
16 adjustment disorder 10.1 SLC6A4 HTR1A
17 sensory organ benign neoplasm 10.1 SYP PPY
18 endometrial small cell carcinoma 10.1 SYP PPY
19 alexithymia 10.1 SLC6A4 HTR1A CCL4
20 gastric fundus cancer 10.1 PPIA KRT19
21 separation anxiety disorder 10.1 SLC6A4 HTR1A
22 anterograde amnesia 10.1 HTR1A FOS
23 acute stress disorder 10.1 SLC6A4 HTR1A
24 premature ejaculation 10.0 SLC6A4 HTR1A
25 alcohol use disorder 10.0 SLC6A4 HTR1A GABBR1
26 gangliocytoma 10.0 SYP PVALB
27 temporal lobe epilepsy 10.0 PVALB HTR1A GABBR1
28 jejunal somatostatinoma 10.0 SST PPY
29 non-functioning pancreatic endocrine tumor 10.0 SST PPY
30 acinar cell cystadenocarcinoma 10.0 SYP KRT19
31 duodenal gastrinoma 10.0 SST PPY
32 pancreatic somatostatinoma 10.0 SST PPY
33 endocrine pancreas disease 10.0 SST PPY
34 duodenal somatostatinoma 10.0 SST PPY
35 gilles de la tourette syndrome 10.0 SLC6A4 PVALB HTR1A
36 ovarian germ cell teratoma 10.0 SYP KRT19
37 pancreatic cholera 10.0 SST PPY
38 biliary tract benign neoplasm 10.0 SYP KRT19
39 sexual disorder 10.0 VEGFA SLC6A4 HTR1A
40 tracheal lymphoma 10.0 SYP KRT19
41 gliofibroma 10.0 VTN SYP
42 pancreatic acinar cell adenocarcinoma 10.0 SYP KRT19
43 nasal cavity olfactory neuroblastoma 10.0 SYP KRT19
44 retrograde amnesia 10.0 SLC6A4 HTR1A FOS
45 chordoma 9.9 VEGFA SOX9 KRT19
46 sleep disorder 9.9 SLC6A4 HTR1A FOS
47 kagami-ogata syndrome 9.9 SLC6A4 PVALB FOS
48 ovarian germ cell cancer 9.9 SYP KRT19
49 vitreoretinopathy, neovascular inflammatory 9.9 VTN VEGFA FOS
50 melancholia 9.9 SLC6A4 HTR1A

Graphical network of the top 20 diseases related to Diamond-Blackfan Anemia 5:



Diseases related to Diamond-Blackfan Anemia 5

Symptoms & Phenotypes for Diamond-Blackfan Anemia 5

Human phenotypes related to Diamond-Blackfan Anemia 5:

31 (show all 10)
# Description HPO Frequency HPO Source Accession
1 global developmental delay 31 HP:0001263
2 hypertelorism 31 HP:0000316
3 short stature 31 HP:0004322
4 low-set ears 31 HP:0000369
5 hypospadias 31 HP:0000047
6 ventricular septal defect 31 HP:0001629
7 leukopenia 31 HP:0001882
8 macrocytic anemia 31 HP:0001972
9 reticulocytopenia 31 HP:0001896
10 erythroid hypoplasia 31 HP:0012133

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Growth Height:
short stature

Laboratory Abnormalities:
elevated erythrocyte adenosine deaminase (eada)

Hematology:
reticulocytopenia
anemia, normochromic macrocytic
normocellular marrow with paucity of erythroid precursors

Clinical features from OMIM®:

612528 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Diamond-Blackfan Anemia 5:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.85 FOS GABBR1 HTR1A KRT19 PVALB SLC6A4
2 no phenotypic analysis MP:0003012 9.43 HTR1A KRT19 PVALB SOX9 SST VEGFA
3 normal MP:0002873 9.28 FOS KRT19 PVALB SLC6A4 SOX9 SST

Drugs & Therapeutics for Diamond-Blackfan Anemia 5

Search Clinical Trials , NIH Clinical Center for Diamond-Blackfan Anemia 5

Cochrane evidence based reviews: diamond-blackfan anemia 5

Genetic Tests for Diamond-Blackfan Anemia 5

Genetic tests related to Diamond-Blackfan Anemia 5:

# Genetic test Affiliating Genes
1 Diamond-Blackfan Anemia 5 29 RPL35A

Anatomical Context for Diamond-Blackfan Anemia 5

MalaCards organs/tissues related to Diamond-Blackfan Anemia 5:

40
Bone Marrow

Publications for Diamond-Blackfan Anemia 5

Articles related to Diamond-Blackfan Anemia 5:

# Title Authors PMID Year
1
Abnormalities of the large ribosomal subunit protein, Rpl35a, in Diamond-Blackfan anemia. 6 57
18535205 2008
2
Clinical and genomic heterogeneity of Diamond Blackfan anemia in the Russian Federation. 6
25946618 2015
3
Novel deletion of RPL15 identified by array-comparative genomic hybridization in Diamond-Blackfan anemia. 57
23812780 2013
4
High frequency of ribosomal protein gene deletions in Italian Diamond-Blackfan anemia patients detected by multiplex ligation-dependent probe amplification assay. 6
22689679 2012
5
Extensive gene deletions in Japanese patients with Diamond-Blackfan anemia. 6
22262766 2012

Variations for Diamond-Blackfan Anemia 5

ClinVar genetic disease variations for Diamond-Blackfan Anemia 5:

6 (show all 28)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 IQCG , RPL35A NM_000996.4(RPL35A):c.97G>A (p.Val33Ile) SNV Pathogenic 13001 rs116840808 GRCh37: 3:197678115-197678115
GRCh38: 3:197951244-197951244
2 IQCG , RPL35A NM_000996.4(RPL35A):c.304C>T (p.Arg102Ter) SNV Pathogenic 13003 rs116840809 GRCh37: 3:197681013-197681013
GRCh38: 3:197954142-197954142
3 IQCG , RPL35A NC_000003.12:g.(?_197950962)_(197955779_?)del Deletion Pathogenic 469500 GRCh37: 3:197677833-197682650
GRCh38: 3:197950962-197955779
4 IQCG , RPL35A NM_000996.4(RPL35A):c.212G>A (p.Trp71Ter) SNV Pathogenic 537236 rs1553811551 GRCh37: 3:197680921-197680921
GRCh38: 3:197954050-197954050
5 IQCG , RPL35A NM_000996.4(RPL35A):c.118_119del (p.Glu40fs) Deletion Pathogenic 583098 rs1560120302 GRCh37: 3:197678135-197678136
GRCh38: 3:197951264-197951265
6 IQCG , RPL35A NC_000003.12:g.(?_197950958)_(197955783_?)del Deletion Pathogenic 647968 GRCh37: 3:197677829-197682654
GRCh38: 3:197950958-197955783
7 IQCG , RPL35A NM_000996.4(RPL35A):c.258del (p.Lys87fs) Deletion Pathogenic 807674 rs1581106084 GRCh37: 3:197680966-197680966
GRCh38: 3:197954095-197954095
8 IQCG , RPL35A NM_000996.4(RPL35A):c.164+1G>A SNV Likely pathogenic 843293 GRCh37: 3:197678183-197678183
GRCh38: 3:197951312-197951312
9 IQCG , RPL35A NM_000996.4(RPL35A):c.55C>T (p.Arg19Trp) SNV Uncertain significance 901001 GRCh37: 3:197678073-197678073
GRCh38: 3:197951202-197951202
10 IQCG , RPL35A NC_000003.12:g.(?_197950958)_(197955783_?)dup Duplication Uncertain significance 830433 GRCh37: 3:197677829-197682654
GRCh38:
11 IQCG , RPL35A NC_000003.12:g.(?_197950968)_(197955773_?)dup Duplication Uncertain significance 830931 GRCh37: 3:197677839-197682644
GRCh38:
12 IQCG , RPL35A NM_000996.4(RPL35A):c.309+4A>T SNV Uncertain significance 572707 rs1270507770 GRCh37: 3:197681022-197681022
GRCh38: 3:197954151-197954151
13 IQCG , RPL35A NM_000996.4(RPL35A):c.271A>G (p.Asn91Asp) SNV Uncertain significance 574750 rs1560123334 GRCh37: 3:197680980-197680980
GRCh38: 3:197954109-197954109
14 IQCG , RPL35A NM_000996.4(RPL35A):c.-33G>A SNV Uncertain significance 344525 rs564722971 GRCh37: 3:197677092-197677092
GRCh38: 3:197950221-197950221
15 IQCG , RPL35A NM_000996.4(RPL35A):c.-37T>G SNV Uncertain significance 344524 rs886058265 GRCh37: 3:197677088-197677088
GRCh38: 3:197950217-197950217
16 IQCG , RPL35A NM_000996.4(RPL35A):c.-31C>T SNV Uncertain significance 344527 rs766043927 GRCh37: 3:197677808-197677808
GRCh38: 3:197950937-197950937
17 IQCG , RPL35A NM_000996.4(RPL35A):c.41A>T (p.Tyr14Phe) SNV Uncertain significance 997559 GRCh37: 3:197678059-197678059
GRCh38: 3:197951188-197951188
18 IQCG , RPL35A NC_000003.11:g.(?_197677839)_(197678192_?)dup Duplication Uncertain significance 1003192 GRCh37: 3:197677839-197678192
GRCh38:
19 IQCG , RPL35A NM_000996.4(RPL35A):c.89T>C (p.Ile30Thr) SNV Uncertain significance 1008059 GRCh37: 3:197678107-197678107
GRCh38: 3:197951236-197951236
20 IQCG , RPL35A NM_000996.4(RPL35A):c.12-5C>G SNV Uncertain significance 1015847 GRCh37: 3:197678025-197678025
GRCh38: 3:197951154-197951154
21 IQCG , RPL35A NM_000996.4(RPL35A):c.79_81CTT[1] (p.Leu28del) Microsatellite Uncertain significance 13002 rs116840807 GRCh37: 3:197678096-197678098
GRCh38: 3:197951225-197951227
22 IQCG , RPL35A NM_000996.4(RPL35A):c.34G>A (p.Ala12Thr) SNV Uncertain significance 942903 GRCh37: 3:197678052-197678052
GRCh38: 3:197951181-197951181
23 IQCG , RPL35A NM_000996.4(RPL35A):c.*21T>A SNV Likely benign 901558 GRCh37: 3:197682665-197682665
GRCh38: 3:197955794-197955794
24 IQCG , RPL35A NM_000996.4(RPL35A):c.21C>T (p.Ser7=) SNV Benign/Likely benign 344528 rs145660527 GRCh37: 3:197678039-197678039
GRCh38: 3:197951168-197951168
25 IQCG , RPL35A NM_000996.4(RPL35A):c.*6C>T SNV Benign 344530 rs116874993 GRCh37: 3:197682650-197682650
GRCh38: 3:197955779-197955779
26 IQCG , RPL35A NM_000996.4(RPL35A):c.-32-3A>G SNV Benign 344526 rs200335648 GRCh37: 3:197677804-197677804
GRCh38: 3:197950933-197950933
27 IQCG , RPL35A NM_000996.4(RPL35A):c.*14C>A SNV Benign 344531 rs10022 GRCh37: 3:197682658-197682658
GRCh38: 3:197955787-197955787
28 IQCG , RPL35A NM_000996.4(RPL35A):c.266G>A (p.Arg89Gln) SNV Benign 344529 rs145244860 GRCh37: 3:197680975-197680975
GRCh38: 3:197954104-197954104

UniProtKB/Swiss-Prot genetic disease variations for Diamond-Blackfan Anemia 5:

72
# Symbol AA change Variation ID SNP ID
1 RPL35A p.Val33Ile VAR_055447 rs116840808

Expression for Diamond-Blackfan Anemia 5

Search GEO for disease gene expression data for Diamond-Blackfan Anemia 5.

Pathways for Diamond-Blackfan Anemia 5

GO Terms for Diamond-Blackfan Anemia 5

Cellular components related to Diamond-Blackfan Anemia 5 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 synapse GO:0045202 9.02 SYP SST SLC6A4 HTR1A GABBR1

Biological processes related to Diamond-Blackfan Anemia 5 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 positive regulation of mesenchymal cell proliferation GO:0002053 9.26 VEGFA SOX9
2 positive regulation of branching involved in ureteric bud morphogenesis GO:0090190 9.16 VEGFA SOX9
3 vasoconstriction GO:0042310 8.96 SLC6A4 HTR1A
4 response to toxic substance GO:0009636 8.8 SLC6A4 FOS CCL4

Molecular functions related to Diamond-Blackfan Anemia 5 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 serotonin binding GO:0051378 8.62 SLC6A4 HTR1A

Sources for Diamond-Blackfan Anemia 5

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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