DBA8
MCID: DMN020
MIFTS: 38

Diamond-Blackfan Anemia 8 (DBA8)

Categories: Blood diseases, Bone diseases, Cancer diseases, Fetal diseases, Genetic diseases, Immune diseases, Metabolic diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Diamond-Blackfan Anemia 8

MalaCards integrated aliases for Diamond-Blackfan Anemia 8:

Name: Diamond-Blackfan Anemia 8 57 11 73 28 12 5 43 14 71
Dba8 57 11 73
Rps7-Related Diamond-Blackfan Anemia 11
Anemia, Diamond-Blackfan, Type 8 38

Characteristics:


Inheritance:

Autosomal dominant 57

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
based on reports of 3 patients (last curated december 2016)
some patients exhibit no dysmorphic features


Classifications:



External Ids:

Disease Ontology 11 DOID:0111881
OMIM® 57 612563
OMIM Phenotypic Series 57 PS105650
MedGen 40 C2675511
UMLS 71 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 08-Dec-2022)

MalaCards based summary: Diamond-Blackfan Anemia 8, also known as dba8, is related to alzheimer disease mitochondrial and severe congenital neutropenia 1. An important gene associated with Diamond-Blackfan Anemia 8 is RPS7 (Ribosomal Protein S7), and among its related pathways/superpathways are Complex I biogenesis and SARS-CoV-2 modulates host translation machinery. Affiliated tissues include bone marrow, bone and heart, and related phenotypes are macrocytic anemia and increased mean corpuscular volume

UniProtKB/Swiss-Prot: 73 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.

Disease Ontology: 11 A Diamond-Blackfan anemia that has material basis in heterozygous mutation in RPS7 on chromosome 2p25.3.

Related Diseases for Diamond-Blackfan Anemia 8

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 Diamond-Blackfan Anemia 21

Diseases related to Diamond-Blackfan Anemia 8 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 15)
# Related Disease Score Top Affiliating Genes
1 alzheimer disease mitochondrial 9.9 MT-ND2 MT-ND1
2 severe congenital neutropenia 1 9.9 MT-ND2 MT-ND1
3 mitochondrial dna-associated leigh syndrome 9.9 MT-ND2 MT-ND1
4 parathyroid oncocytic adenoma 9.9 MT-ND2 MT-ND1
5 mitochondrial myopathy, infantile, transient 9.9 MT-ND2 MT-ND1
6 mitochondrial myopathy 9.9 MT-ND2 MT-ND1
7 dicrocoeliasis 9.8 MT-ND2 MT-ND1
8 alveolar echinococcosis 9.8 MT-ND2 MT-ND1
9 mitochondrial dna depletion syndrome 4a 9.8 MT-ND2 MT-ND1
10 cranial nerve disease 9.8 MT-ND2 MT-ND1
11 myoclonic epilepsy associated with ragged-red fibers 9.8 MT-ND2 MT-ND1
12 early myoclonic encephalopathy 9.8 MT-ND2 MT-ND1
13 mitochondrial encephalomyopathy 9.7 MT-ND2 MT-ND1
14 optic nerve disease 9.7 MT-ND2 MT-ND1
15 kearns-sayre syndrome 9.6 MT-ND2 MT-ND1

Graphical network of the top 20 diseases related to Diamond-Blackfan Anemia 8:



Diseases related to Diamond-Blackfan Anemia 8

Symptoms & Phenotypes for Diamond-Blackfan Anemia 8

Human phenotypes related to Diamond-Blackfan Anemia 8:

30 (show all 8)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocytic anemia 30 Very rare (1%) HP:0001972
2 increased mean corpuscular volume 30 Very rare (1%) HP:0005518
3 hypertelorism 30 HP:0000316
4 wide nasal bridge 30 HP:0000431
5 short nose 30 HP:0003196
6 short stature 30 HP:0004322
7 neutropenia 30 HP:0001875
8 thick upper lip vermilion 30 HP:0000215

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
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

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

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)

Hematology:
congenital anemia
neutropenia (patient a)

Clinical features from OMIM®:

612563 (Updated 08-Dec-2022)

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 28 RPS7

Anatomical Context for Diamond-Blackfan Anemia 8

Organs/tissues related to Diamond-Blackfan Anemia 8:

MalaCards : Bone Marrow, Bone, Heart
ODiseA: Blood And 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 5
27882484 2017
2
Target enrichment and high-throughput sequencing of 80 ribosomal protein genes to identify mutations associated with Diamond-Blackfan anaemia. 57 5
23718193 2013
3
Ribosomal protein L5 and L11 mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patients. 57 5
19061985 2008
4
Clinical utility of next-generation sequencing for inherited bone marrow failure syndromes. 5
28102861 2017
5
Loss of function mutations in RPL27 and RPS27 identified by whole-exome sequencing in Diamond-Blackfan anaemia. 5
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. 62
22937995 2012

Variations for Diamond-Blackfan Anemia 8

ClinVar genetic disease variations for Diamond-Blackfan Anemia 8:

5 (show top 50) (show all 81)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 RPS7 NM_001011.4(RPS7):c.76-1G>T SNV Pathogenic
372193 rs1057519624 GRCh37: 2:3623406-3623406
GRCh38: 2:3575816-3575816
2 RPS7 NM_001011.4(RPS7):c.-19+1G>A SNV Pathogenic
975849 rs1064796859 GRCh37: 2:3622941-3622941
GRCh38: 2:3575351-3575351
3 RPS7 NM_001011.4(RPS7):c.147+1G>A SNV Pathogenic
6150 rs397507554 GRCh37: 2:3623479-3623479
GRCh38: 2:3575889-3575889
4 RPS7 NM_001011.4(RPS7):c.75+1G>A SNV Pathogenic
1031721 rs1661257691 GRCh37: 2:3623275-3623275
GRCh38: 2:3575685-3575685
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.518T>C (p.Phe173Ser) SNV Uncertain Significance
579378 rs1558474062 GRCh37: 2:3628405-3628405
GRCh38: 2:3580815-3580815
7 RPS7 NM_001011.4(RPS7):c.-3G>A SNV Uncertain Significance
1028444 rs751847851 GRCh37: 2:3623197-3623197
GRCh38: 2:3575607-3575607
8 RPS7 NM_001011.4(RPS7):c.34A>C (p.Asn12His) SNV Uncertain Significance
955608 rs1661257045 GRCh37: 2:3623233-3623233
GRCh38: 2:3575643-3575643
9 RPS7 NM_001011.4(RPS7):c.580T>C (p.Leu194=) SNV Uncertain Significance
897960 rs1480952113 GRCh37: 2:3628467-3628467
GRCh38: 2:3580877-3580877
10 RPS7 NM_001011.4(RPS7):c.66C>T (p.Gly22=) SNV Uncertain Significance
1490897 GRCh37: 2:3623265-3623265
GRCh38: 2:3575675-3575675
11 RPS7 NM_001011.4(RPS7):c.455G>C (p.Arg152Pro) SNV Uncertain Significance
1492775 GRCh37: 2:3627798-3627798
GRCh38: 2:3580208-3580208
12 RPS7 NM_001011.4(RPS7):c.311C>T (p.Pro104Leu) SNV Uncertain Significance
1433829 GRCh37: 2:3625319-3625319
GRCh38: 2:3577729-3577729
13 RPS7 NM_001011.4(RPS7):c.77C>T (p.Ala26Val) SNV Uncertain Significance
1401513 GRCh37: 2:3623408-3623408
GRCh38: 2:3575818-3575818
14 RPS7 NM_001011.4(RPS7):c.508-12_508-9del MICROSAT Uncertain Significance
1374483 GRCh37: 2:3628377-3628380
GRCh38: 2:3580787-3580790
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.333A>C (p.Lys111Asn) SNV Uncertain Significance
1720274 GRCh37: 2:3625341-3625341
GRCh38: 2:3577751-3577751
17 RPS7 NM_001011.4(RPS7):c.539T>A (p.Leu180His) SNV Uncertain Significance
440245 rs1553343210 GRCh37: 2:3628426-3628426
GRCh38: 2:3580836-3580836
18 RPS7 NM_001011.4(RPS7):c.274GTC[1] (p.Val93del) MICROSAT Uncertain Significance
537186 rs1553342919 GRCh37: 2:3624203-3624205
GRCh38: 2:3576613-3576615
19 RPS7 NM_001011.4(RPS7):c.-27C>T SNV Uncertain Significance
335898 rs573443780 GRCh37: 2:3622932-3622932
GRCh38: 2:3575342-3575342
20 RPS7 NM_001011.4(RPS7):c.-13C>T SNV Uncertain Significance
335901 rs765604580 GRCh37: 2:3623187-3623187
GRCh38: 2:3575597-3575597
21 RPS7 NM_001011.4(RPS7):c.-44C>T SNV Uncertain Significance
335896 rs563293592 GRCh37: 2:3622915-3622915
GRCh38: 2:3575325-3575325
22 RPS7 NM_001011.4(RPS7):c.-23G>A SNV Uncertain Significance
335899 rs886055985 GRCh37: 2:3622936-3622936
GRCh38: 2:3575346-3575346
23 RPS7 NM_001011.4(RPS7):c.-86C>T SNV Uncertain Significance
335894 rs186304514 GRCh37: 2:3622873-3622873
GRCh38: 2:3575283-3575283
24 RPS7 NC_000002.11:g.(?_3622941)_(3628472_?)dup DUP Uncertain Significance
1014731 GRCh37: 2:3622941-3628472
GRCh38:
25 RPS7 NM_001011.4(RPS7):c.169C>T (p.Arg57Trp) SNV Uncertain Significance
1379713 GRCh37: 2:3624098-3624098
GRCh38: 2:3576508-3576508
26 RPS7 NM_001011.4(RPS7):c.521C>G (p.Ser174Cys) SNV Uncertain Significance
1443846 GRCh37: 2:3628408-3628408
GRCh38: 2:3580818-3580818
27 RPS7 NM_001011.4(RPS7):c.356+6T>C SNV Uncertain Significance
1447145 GRCh37: 2:3625370-3625370
GRCh38: 2:3577780-3577780
28 RPS7 NM_001011.4(RPS7):c.147+6C>T SNV Uncertain Significance
1447728 GRCh37: 2:3623484-3623484
GRCh38: 2:3575894-3575894
29 RPS7 NM_001011.4(RPS7):c.14G>A (p.Ser5Asn) SNV Uncertain Significance
1485908 GRCh37: 2:3623213-3623213
GRCh38: 2:3575623-3575623
30 RPS7 NM_001011.4(RPS7):c.356+3G>A SNV Uncertain Significance
1024764 rs1161877660 GRCh37: 2:3625367-3625367
GRCh38: 2:3577777-3577777
31 RPS7 NM_001011.4(RPS7):c.519T>A (p.Phe173Leu) SNV Uncertain Significance
638493 rs1572360947 GRCh37: 2:3628406-3628406
GRCh38: 2:3580816-3580816
32 RPS7 NM_001011.4(RPS7):c.133A>G (p.Ile45Val) SNV Uncertain Significance
962784 rs1661264441 GRCh37: 2:3623464-3623464
GRCh38: 2:3575874-3575874
33 RPS7 NM_001011.4(RPS7):c.35A>G (p.Asn12Ser) SNV Uncertain Significance
998359 rs779623517 GRCh37: 2:3623234-3623234
GRCh38: 2:3575644-3575644
34 RPS7 NM_001011.4(RPS7):c.520T>G (p.Ser174Ala) SNV Uncertain Significance
1050877 GRCh37: 2:3628407-3628407
GRCh38: 2:3580817-3580817
35 RPS7 NM_001011.4(RPS7):c.39C>T (p.Gly13=) SNV Uncertain Significance
335902 rs746686516 GRCh37: 2:3623238-3623238
GRCh38: 2:3575648-3575648
36 RPS7 NM_001011.4(RPS7):c.406C>G (p.Pro136Ala) SNV Uncertain Significance
855605 rs1661370560 GRCh37: 2:3627749-3627749
GRCh38: 2:3580159-3580159
37 RPS7 NM_001011.4(RPS7):c.137C>T (p.Thr46Met) SNV Uncertain Significance
942955 rs1006838420 GRCh37: 2:3623468-3623468
GRCh38: 2:3575878-3575878
38 RPS7 NM_001011.4(RPS7):c.113C>T (p.Ala38Val) SNV Uncertain Significance
1037436 rs929660330 GRCh37: 2:3623444-3623444
GRCh38: 2:3575854-3575854
39 RPS7 NM_001011.4(RPS7):c.157G>A (p.Val53Ile) SNV Uncertain Significance
1040145 rs144178741 GRCh37: 2:3624086-3624086
GRCh38: 2:3576496-3576496
40 RPS7 NM_001011.4(RPS7):c.357-3del DEL Uncertain Significance
1064152 GRCh37: 2:3627694-3627694
GRCh38: 2:3580104-3580104
41 RPS7 NM_001011.4(RPS7):c.31C>T (p.Pro11Ser) SNV Uncertain Significance
1368521 GRCh37: 2:3623230-3623230
GRCh38: 2:3575640-3575640
42 RPS7 NM_001011.4(RPS7):c.436G>A (p.Val146Ile) SNV Uncertain Significance
1357068 GRCh37: 2:3627779-3627779
GRCh38: 2:3580189-3580189
43 RPS7 NM_001011.4(RPS7):c.79C>T (p.Leu27Phe) SNV Uncertain Significance
1383790 GRCh37: 2:3623410-3623410
GRCh38: 2:3575820-3575820
44 RPS7 NM_001011.4(RPS7):c.277G>A (p.Val93Ile) SNV Uncertain Significance
1358472 GRCh37: 2:3624206-3624206
GRCh38: 2:3576616-3576616
45 RPS7 NM_001011.4(RPS7):c.452G>T (p.Ser151Ile) SNV Uncertain Significance
1418182 GRCh37: 2:3627795-3627795
GRCh38: 2:3580205-3580205
46 RPS7 NM_001011.4(RPS7):c.263G>T (p.Ser88Ile) SNV Uncertain Significance
1496140 GRCh37: 2:3624192-3624192
GRCh38: 2:3576602-3576602
47 RPS7 NM_001011.4(RPS7):c.156A>C (p.Glu52Asp) SNV Uncertain Significance
1525582 GRCh37: 2:3624085-3624085
GRCh38: 2:3576495-3576495
48 RPS7 NM_001011.4(RPS7):c.543G>A (p.Thr181=) SNV Likely Benign
1102982 GRCh37: 2:3628430-3628430
GRCh38: 2:3580840-3580840
49 RPS7 NM_001011.4(RPS7):c.519T>C (p.Phe173=) SNV Likely Benign
1112689 GRCh37: 2:3628406-3628406
GRCh38: 2:3580816-3580816
50 RPS7 NM_001011.4(RPS7):c.292-9A>T SNV Likely Benign
335904 rs746941533 GRCh37: 2:3625291-3625291
GRCh38: 2:3577701-3577701

Expression for Diamond-Blackfan Anemia 8

Search GEO for disease gene expression data for Diamond-Blackfan Anemia 8.

Pathways for Diamond-Blackfan Anemia 8

Pathways related to Diamond-Blackfan Anemia 8 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11 MT-ND2 MT-ND1
2
Show member pathways
10.57 RPS7 RPS3

GO Terms for Diamond-Blackfan Anemia 8

Cellular components related to Diamond-Blackfan Anemia 8 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytosolic ribosome GO:0022626 9.56 RPS7 RPS3
2 mitochondrial respiratory chain complex I GO:0005747 9.46 MT-ND2 MT-ND1
3 cytosolic small ribosomal subunit GO:0022627 9.26 RPS7 RPS3
4 respirasome GO:0070469 8.62 MT-ND2 MT-ND1

Biological processes related to Diamond-Blackfan Anemia 8 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 aerobic respiration GO:0009060 9.56 MT-ND2 MT-ND1
2 proton motive force-driven mitochondrial ATP synthesis GO:0042776 9.46 MT-ND2 MT-ND1
3 mitochondrial respiratory chain complex I assembly GO:0032981 9.26 MT-ND2 MT-ND1
4 mitochondrial electron transport, NADH to ubiquinone GO:0006120 8.92 MT-ND2 MT-ND1

Molecular functions related to Diamond-Blackfan Anemia 8 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 NADH dehydrogenase (ubiquinone) activity GO:0008137 8.92 MT-ND2 MT-ND1

Sources for Diamond-Blackfan Anemia 8

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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