Diamond-Blackfan Anemia 16 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

DBA16 MCID: DMN040 MIFTS: 20	Diamond-Blackfan Anemia 16 (DBA16) 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 16

MalaCards integrated aliases for Diamond-Blackfan Anemia 16:

Name: Diamond-Blackfan Anemia 16 ⁵⁷ ¹¹ ⁷³ ²⁸ ⁵

Dba16 ⁵⁷ ¹¹ ⁷³

Rpl27-Related Diamond-Blackfan Anemia ¹¹

Anemia, Diamond-Blackfan, Type 16 ³⁸

Characteristics:

Inheritance:

Autosomal dominant ⁵⁷

OMIM®:

⁵⁷ (Updated 08-Dec-2022)

Miscellaneous:
based on report of 1 patient (last curated march 2017)
diagnosed at birth

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:0111893

OMIM® ⁵⁷ 617408

OMIM Phenotypic Series ⁵⁷ PS105650

MeSH ⁴³ D029503

MedGen ⁴⁰ C4479424 CN241838

SNOMED-CT via HPO ⁶⁹ 165397008 253366007 271737000 more

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Summaries for Diamond-Blackfan Anemia 16

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 16, is also known as dba16. An important gene associated with Diamond-Blackfan Anemia 16 is RPL27 (Ribosomal Protein L27). Affiliated tissues include bone marrow, bone and blood and bone marrow, and related phenotypes are anemia and atrial septal defect

Disease Ontology: ¹¹ A Diamond-Blackfan anemia that has material basis in heterozygous mutation in RPL27 on chromosome 17q21.31.

More information from OMIM: 617408 PS105650

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Related Diseases for Diamond-Blackfan Anemia 16

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Symptoms & Phenotypes for Diamond-Blackfan Anemia 16

Human phenotypes related to Diamond-Blackfan Anemia 16:

³⁰

#	Description	HPO Source Accession
1	anemia ³⁰	HP:0001903
2	atrial septal defect ³⁰	HP:0001631
3	pulmonic stenosis ³⁰	HP:0001642

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 08-Dec-2022)

Hematology:
anemia
hypercellularity of bone marrow

Cardiovascular Vascular:
pulmonary stenosis

Cardiovascular Heart:
atrial septal defect

Clinical features from OMIM®:

617408 (Updated 08-Dec-2022)

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Drugs & Therapeutics for Diamond-Blackfan Anemia 16

Search Clinical Trials, NIH Clinical Center for Diamond-Blackfan Anemia 16

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Genetic Tests for Diamond-Blackfan Anemia 16

Genetic tests related to Diamond-Blackfan Anemia 16:

#	Genetic test	Affiliating Genes
1	Diamond-Blackfan Anemia 16 ²⁸	RPL27

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Anatomical Context for Diamond-Blackfan Anemia 16

Organs/tissues related to Diamond-Blackfan Anemia 16:

MalaCards : Bone Marrow, Bone

ODiseA: Blood And Bone Marrow

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Publications for Diamond-Blackfan Anemia 16

Articles related to Diamond-Blackfan Anemia 16:

#	Title	Authors	PMID	Year
1	Loss of function mutations in RPL27 and RPS27 identified by whole-exome sequencing in Diamond-Blackfan anaemia. ⁵⁷ ⁵	Wang R...Ito E	25424902	2015

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Genes for Diamond-Blackfan Anemia 16

Genes related to Diamond-Blackfan Anemia 16 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	RPL27	Ribosomal Protein L27	Protein Coding	1058.15	Molecular basis known ⁵⁷ Pathogenic ⁵ Genetic Tests ²⁸ Unconfirmed association ⁵⁷ GeneCards inferred via : Disorders (show sections)	25424902

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Variations for Diamond-Blackfan Anemia 16

ClinVar genetic disease variations for Diamond-Blackfan Anemia 16:

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#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	RPL27	NM_000988.5(RPL27):c.-2-1G>A	SNV	Pathogenic	417776	rs1085307119	GRCh37: 17:41150765-41150765 GRCh38: 17:42998748-42998748
2	RPL27	NM_000988.5(RPL27):c.403C>T (p.Arg135Trp)	SNV	Uncertain Significance	1683516		GRCh37: 17:41154929-41154929 GRCh38: 17:43002912-43002912
3	RPL27	NM_000988.5(RPL27):c.362+17A>C	SNV	Benign	1243778		GRCh37: 17:41154817-41154817 GRCh38: 17:43002800-43002800