Diamond-Blackfan Anemia 17 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Diamond-Blackfan Anemia 17

MalaCards integrated aliases for Diamond-Blackfan Anemia 17:

Name: Diamond-Blackfan Anemia 17 ⁵⁸ ⁷⁶ ³⁰ ⁶

Dba17 ⁵⁸ ⁷⁶

Anemia, Diamond-Blackfan, Type 17 ⁴¹

Characteristics:

OMIM:

⁵⁸

Inheritance:
autosomal dominant

Miscellaneous:
based on report of 1 patient (last curated march 2017)
diagnosed at 2 months of age

HPO:

³³

diamond-blackfan anemia 17:
Inheritance autosomal dominant inheritance

Classifications:

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

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁸ 617409

MeSH ⁴⁵ D029503

MedGen ⁴³ C4479428 CN241839

SNOMED-CT via HPO ⁷⁰ 165397008 263681008 271737000 more

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Summaries for Diamond-Blackfan Anemia 17

UniProtKB/Swiss-Prot : ⁷⁶ Diamond-Blackfan anemia 17: 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 17, also known as dba17, is related to diamond-blackfan anemia. An important gene associated with Diamond-Blackfan Anemia 17 is RPS27 (Ribosomal Protein S27). Affiliated tissues include skin and bone, and related phenotypes are anemia and hyperpigmentation of the skin

Description from OMIM: 617409

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Related Diseases for Diamond-Blackfan Anemia 17

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

#	Related Disease	Score	Top Affiliating Genes
1	diamond-blackfan anemia	9.5	RAB13 RPS27

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Symptoms & Phenotypes for Diamond-Blackfan Anemia 17

Human phenotypes related to Diamond-Blackfan Anemia 17:

³³

#	Description	HPO Frequency	HPO Source Accession
1	anemia ³³		HP:0001903
2	hyperpigmentation of the skin ³³		HP:0000953

Symptoms via clinical synopsis from OMIM:

⁵⁸

Hematology:
anemia

Skin Nails Hair Skin:
abnormal pigmentation

Clinical features from OMIM:

617409

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Drugs & Therapeutics for Diamond-Blackfan Anemia 17

Search Clinical Trials , NIH Clinical Center for Diamond-Blackfan Anemia 17

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Genetic Tests for Diamond-Blackfan Anemia 17

Genetic tests related to Diamond-Blackfan Anemia 17:

#	Genetic test	Affiliating Genes
1	Diamond-Blackfan Anemia 17 ³⁰	RPS27

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Anatomical Context for Diamond-Blackfan Anemia 17

MalaCards organs/tissues related to Diamond-Blackfan Anemia 17:

⁴²

Skin, Bone

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Publications for Diamond-Blackfan Anemia 17

Articles related to Diamond-Blackfan Anemia 17:

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

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Genes for Diamond-Blackfan Anemia 17

Genes related to Diamond-Blackfan Anemia 17 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	RPS27	Ribosomal Protein S27	Protein Coding	1077.75	Molecular basis known ⁵⁸ Pathogenic ⁶ Genetic Tests ³⁰ Unconfirmed association ⁵⁸ GeneCards inferred via : Disorders Variants (show sections)	25424902
2	RAB13	RAB13, Member RAS Oncogene Family	Protein Coding	7.83	GeneCards inferred via : Variants (show sections)

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Variations for Diamond-Blackfan Anemia 17

ClinVar genetic disease variations for Diamond-Blackfan Anemia 17:

⁶

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	RPS27	NM_001030.5(RPS27): c.90delC (p.Tyr31Thrfs)	deletion	Pathogenic	rs1085307115	GRCh37	Chromosome 1, 153963674: 153963674
2	RPS27	NM_001030.5(RPS27): c.90delC (p.Tyr31Thrfs)	deletion	Pathogenic	rs1085307115	GRCh38	Chromosome 1, 153991198: 153991198

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Expression for Diamond-Blackfan Anemia 17

Search GEO for disease gene expression data for Diamond-Blackfan Anemia 17.

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Pathways for Diamond-Blackfan Anemia 17

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GO Terms for Diamond-Blackfan Anemia 17

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Sources for Diamond-Blackfan Anemia 17

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Diamond-Blackfan Anemia 17 (DBA17)

Aliases & Classifications for Diamond-Blackfan Anemia 17

MalaCards integrated aliases for Diamond-Blackfan Anemia 17:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Diamond-Blackfan Anemia 17

Related Diseases for Diamond-Blackfan Anemia 17

Diseases in the Diamond-Blackfan Anemia family:

Diseases related to Diamond-Blackfan Anemia 17 via text searches within MalaCards or GeneCards Suite gene sharing:

Symptoms & Phenotypes for Diamond-Blackfan Anemia 17

Human phenotypes related to Diamond-Blackfan Anemia 17:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Drugs & Therapeutics for Diamond-Blackfan Anemia 17

Genetic Tests for Diamond-Blackfan Anemia 17

Genetic tests related to Diamond-Blackfan Anemia 17:

Anatomical Context for Diamond-Blackfan Anemia 17

MalaCards organs/tissues related to Diamond-Blackfan Anemia 17:

Publications for Diamond-Blackfan Anemia 17

Articles related to Diamond-Blackfan Anemia 17:

Genes for Diamond-Blackfan Anemia 17

Genes related to Diamond-Blackfan Anemia 17 (1 elite genes):

Variations for Diamond-Blackfan Anemia 17

ClinVar genetic disease variations for Diamond-Blackfan Anemia 17:

Expression for Diamond-Blackfan Anemia 17

Pathways for Diamond-Blackfan Anemia 17

GO Terms for Diamond-Blackfan Anemia 17

Sources for Diamond-Blackfan Anemia 17