Diamond-Blackfan Anemia 8 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

Sources

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:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Metabolic diseases Cancer diseases
Anatomical: Blood diseases Immune diseases Neuronal diseases Bone diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹¹ DOID:0111881

OMIM® ⁵⁷ 612563

OMIM Phenotypic Series ⁵⁷ PS105650

MeSH ⁴³ C567253 D029503

MedGen ⁴⁰ C2675511

SNOMED-CT via HPO ⁶⁹ 165517008 194021007 22006008 more

UMLS ⁷¹ C2675511

Sources

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.

Sources

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:

Sources

Symptoms & Phenotypes for Diamond-Blackfan Anemia 8

Human phenotypes related to Diamond-Blackfan Anemia 8:

³⁰ (show all 8)

#	Description	HPO 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)

Sources

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

Sources

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

Sources

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

Sources

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	Ichimura T...Ohga S	27882484	2017
2	Target enrichment and high-throughput sequencing of 80 ribosomal protein genes to identify mutations associated with Diamond-Blackfan anaemia. ⁵⁷ ⁵	Gerrard G...Karadimitris A	23718193	2013
3	Ribosomal protein L5 and L11 mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patients. ⁵⁷ ⁵	Gazda HT...Beggs AH	19061985	2008
4	Clinical utility of next-generation sequencing for inherited bone marrow failure syndromes. ⁵	Muramatsu H...Kojima S	28102861	2017
5	Loss of function mutations in RPL27 and RPS27 identified by whole-exome sequencing in Diamond-Blackfan anaemia. ⁵	Wang R...Ito E	25424902	2015
6	Novel deletion of RPL15 identified by array-comparative genomic hybridization in Diamond-Blackfan anemia. ⁵⁷	Landowski M...Gazda HT	23812780	2013
7	Occupational exposures to noise resulting from the workplace use of personal media players at a manufacturing facility. ⁶²	Autenrieth DA...Brazile WJ	22937995	2012

Sources

Genes for Diamond-Blackfan Anemia 8

Genes related to Diamond-Blackfan Anemia 8 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	RPS7	Ribosomal Protein S7	Protein Coding	1033.11	Molecular basis known ⁵⁷ Pathogenic ⁵ Genetic Tests ²⁸ Likely pathogenic ⁵ GeneCards inferred via : Disorders (show sections)	19061985 23718193 25424902 (more) 27882484 28102861
2	FAM20C	FAM20C Golgi Associated Secretory Pathway Kinase	Protein Coding	5.42	DISEASES inferred ¹⁴
3	RPS3	Ribosomal Protein S3	Protein Coding	5.38	DISEASES inferred ¹⁴
4	MT-ND2	Mitochondrially Encoded NADH:Ubiquinone Oxidoreductase Core Subunit 2	Protein Coding	4.85	DISEASES inferred ¹⁴
5	CCL1	C-C Motif Chemokine Ligand 1	Protein Coding	4.78	DISEASES inferred ¹⁴
6	MT-ND1	Mitochondrially Encoded NADH:Ubiquinone Oxidoreductase Core Subunit 1	Protein Coding	4.72	DISEASES inferred ¹⁴

Sources

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

Sources

Expression for Diamond-Blackfan Anemia 8

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

Sources

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	Complex I biogenesis ⁶⁶ Show member pathways Mitochondrial complex I assembly model OXPHOS system ⁷⁴	11	MT-ND2 MT-ND1
2	SARS-CoV-2 modulates host translation machinery ⁶⁶ Show member pathways SARS-CoV-1 modulates host translation machinery ⁶⁶	10.57	RPS7 RPS3

Sources

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

Sources for Diamond-Blackfan Anemia 8

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

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	Data Licensing For inquiries, contact: [email protected]
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

Diamond-Blackfan Anemia 8 (DBA8)

Aliases & Classifications for Diamond-Blackfan Anemia 8

MalaCards integrated aliases for Diamond-Blackfan Anemia 8:

Characteristics:

Inheritance:

OMIM®:

Classifications:

External Ids:

Summaries for Diamond-Blackfan Anemia 8

Related Diseases for Diamond-Blackfan Anemia 8

Diseases in the Diamond-Blackfan Anemia family:

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

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

Symptoms & Phenotypes for Diamond-Blackfan Anemia 8

Human phenotypes related to Diamond-Blackfan Anemia 8:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

Drugs & Therapeutics 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:

Anatomical Context for Diamond-Blackfan Anemia 8

Organs/tissues related to Diamond-Blackfan Anemia 8:

Publications for Diamond-Blackfan Anemia 8

Articles related to Diamond-Blackfan Anemia 8:

Genes for Diamond-Blackfan Anemia 8

Genes related to Diamond-Blackfan Anemia 8 (1 elite genes):

Variations for Diamond-Blackfan Anemia 8

ClinVar genetic disease variations for Diamond-Blackfan Anemia 8:

Expression for Diamond-Blackfan Anemia 8

Pathways for Diamond-Blackfan Anemia 8

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

GO Terms for Diamond-Blackfan Anemia 8

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

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

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

Sources for Diamond-Blackfan Anemia 8