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MCID: DMN039
MIFTS: 18
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Diamond-Blackfan Anemia 17
Categories:
Genetic diseases, Rare diseases, Metabolic diseases, Fetal diseases, Blood diseases
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MalaCards integrated aliases for Diamond-Blackfan Anemia 17:Characteristics:OMIM:57
Inheritance:
autosomal dominant
Miscellaneous:
based on report of 1 patient (last curated march 2017) diagnosed at 2 months of age HPO:32Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases Fetal diseases Anatomical: Blood diseases |
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UniProtKB/Swiss-Prot
:
75
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 related phenotypes are hyperpigmentation of the skin and anemia
Description from OMIM:
617409
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Diseases in the Diamond-Blackfan Anemia family:Diseases related to Diamond-Blackfan Anemia 17 via text searches within MalaCards or GeneCards Suite gene sharing:
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Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:617409Human phenotypes related to Diamond-Blackfan Anemia 17:32
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MalaCards organs/tissues related to Diamond-Blackfan Anemia 17:41
Skin
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Genes related to Diamond-Blackfan Anemia 17 (1 elite genes):
- Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Diamond-Blackfan Anemia 17:6
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Search
GEO
for disease gene expression data for Diamond-Blackfan Anemia 17.
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