Diamond-Blackfan Anemia 13 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

DBA13 MCID: DMN030 MIFTS: 23	Diamond-Blackfan Anemia 13 (DBA13) 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]
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Aliases & Classifications for Diamond-Blackfan Anemia 13

MalaCards integrated aliases for Diamond-Blackfan Anemia 13:

Name: Diamond-Blackfan Anemia 13 ⁵⁷ ¹¹ ⁷³ ²⁸ ⁵ ¹⁴ ⁷¹

Dba13 ⁵⁷ ¹¹ ⁷³

Rps29-Related Diamond-Blackfan Anemia ¹¹

Anemia, Diamond-Blackfan, Type 13 ³⁸

Characteristics:

Inheritance:

Autosomal dominant ⁵⁷

OMIM®:

⁵⁷ (Updated 08-Dec-2022)

Miscellaneous:
variable expressivity
onset in childhood
incomplete penetrance
one family and an unrelated patient have been reported (last curated july 2014)
no dysmorphic features
most cases are responsive to steroids

HPO:

³⁰

diamond-blackfan anemia 13:
Onset and clinical course variable expressivity

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:0111889

OMIM® ⁵⁷ 615909

OMIM Phenotypic Series ⁵⁷ PS105650

MeSH ⁴³ D029503

MedGen ⁴⁰ C4014641 CN197014

SNOMED-CT via HPO ⁶⁹ 300980002

UMLS ⁷¹ C4014641

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Summaries for Diamond-Blackfan Anemia 13

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.

MalaCards based summary: Diamond-Blackfan Anemia 13, is also known as dba13. An important gene associated with Diamond-Blackfan Anemia 13 is RPS29 (Ribosomal Protein S29). Affiliated tissues include bone marrow, bone and blood and bone marrow, and related phenotypes are normocytic anemia and elevated red cell adenosine deaminase level

Disease Ontology: ¹¹ A Diamond-Blackfan anemia that has material basis in heterozygous mutation in RPS29 on chromosome 14q21.3.

More information from OMIM: 615909 PS105650

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Related Diseases for Diamond-Blackfan Anemia 13

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Symptoms & Phenotypes for Diamond-Blackfan Anemia 13

Human phenotypes related to Diamond-Blackfan Anemia 13:

³⁰

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	normocytic anemia ³⁰			HP:0001897
2	elevated red cell adenosine deaminase level ³⁰			HP:0030270

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 08-Dec-2022)

Hematology:
normocytic anemia

Laboratory Abnormalities:
elevated erythrocyte adenosine deaminase

Neoplasia:
possibly increased risk of cancer

Clinical features from OMIM®:

615909 (Updated 08-Dec-2022)

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Drugs & Therapeutics for Diamond-Blackfan Anemia 13

Search Clinical Trials, NIH Clinical Center for Diamond-Blackfan Anemia 13

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Genetic Tests for Diamond-Blackfan Anemia 13

Genetic tests related to Diamond-Blackfan Anemia 13:

#	Genetic test	Affiliating Genes
1	Diamond-Blackfan Anemia 13 ²⁸	RPS29

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Anatomical Context for Diamond-Blackfan Anemia 13

Organs/tissues related to Diamond-Blackfan Anemia 13:

MalaCards : Bone Marrow, Bone

ODiseA: Blood And Bone Marrow

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Publications for Diamond-Blackfan Anemia 13

Articles related to Diamond-Blackfan Anemia 13:

#	Title	Authors	PMID	Year
1	Whole-exome sequencing and functional studies identify RPS29 as a novel gene mutated in multicase Diamond-Blackfan anemia families. ⁵⁷ ⁵	Mirabello L...Savage SA	24829207	2014
2	Visual and auditory neurotoxicity in patients receiving subcutaneous deferoxamine infusions. ⁶²	Olivieri NF...Skarf B	3485251	1986

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Genes for Diamond-Blackfan Anemia 13

Genes related to Diamond-Blackfan Anemia 13 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	RPS29	Ribosomal Protein S29	Protein Coding	1333.13	Molecular basis known ⁵⁷ Pathogenic ⁵ Causative variation ⁷³ Genetic Tests ²⁸ Likely pathogenic ⁵ GeneCards inferred via : Disorders (show sections)	24829207
2	ALPP	Alkaline Phosphatase, Placental	Protein Coding	6.5	DISEASES inferred ¹⁴

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Variations for Diamond-Blackfan Anemia 13

ClinVar genetic disease variations for Diamond-Blackfan Anemia 13:

⁵

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	RPS29	NM_001032.5(RPS29):c.91A>T (p.Ile31Phe)	SNV	Pathogenic	140738	rs587777568	GRCh37: 14:50052739-50052739 GRCh38: 14:49586021-49586021
2	RPS29	NM_001032.5(RPS29):c.149T>C (p.Ile50Thr)	SNV	Likely Pathogenic	140739	rs587777569	GRCh37: 14:50052681-50052681 GRCh38: 14:49585963-49585963
3	RPS29	NM_001032.5(RPS29):c.63-6T>G	SNV	Uncertain Significance	813931	rs1594573747	GRCh37: 14:50052773-50052773 GRCh38: 14:49586055-49586055