Entry - #617409 - DIAMOND-BLACKFAN ANEMIA 17; DBA17 - OMIM - (OMIM.ORG)

 
ICD+
# 617409

DIAMOND-BLACKFAN ANEMIA 17; DBA17


Phenotype-Gene Relationships

Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key 		Gene/Locus Gene/Locus
MIM number
1q21.3 ?Diamond-Blackfan anemia 17 617409 AD 3 RPS27 603702
Clinical Synopsis
 
Phenotypic Series
 

INHERITANCE - Autosomal dominant [SNOMEDCT: 263681008, 771269000] [UMLS: C1867440, C0443147 HPO: HP:0000006] [HPO: HP:0000006] SKIN, NAILS, & HAIR Skin - Abnormal pigmentation [UMLS: C1260926 HPO: HP:0001000] [HPO: HP:0001000] HEMATOLOGY - Anemia [SNOMEDCT: 271737000] [ICD10CM: D64. 9] [ICD9CM: 285. 9] [UMLS: C1000483, C0002871 HPO: HP:0001903] [HPO: HP:0001903] MISCELLANEOUS - Based on report of 1 patient (last curated March 2017) - Diagnosed at 2 months of age MOLECULAR BASIS - Caused by mutation in the ribosomal protein S27 gene (RPS27, 603702. 0001) ▲ Close Diamond-Blackfan anemia - PS105650 - 22 Entries Location Phenotype Inheritance Phenotypemapping key PhenotypeMIM number Gene/Locus Gene/LocusMIM number 1p36. 11 Diamond-Blackfan anemia 7 AD 3 612562 RPL11 604175 1p22. 1 Diamond-Blackfan anemia 6 AD 3 612561 RPL5 603634 1q21. 3 . Diamond-Blackfan anemia 17 AD 3 617409 RPS27 603702 2p25. 3 Diamond-Blackfan anemia 8 AD 3 612563 RPS7 603658 3p24. 2 Diamond-Blackfan anemia 12 AD 3 615550 RPL15 604174 3q29 Diamond-Blackfan anemia 5 AD 3 612528 RPL35A 180468 6p21. 31 Diamond-Blackfan anemia 9 AD 3 613308 RPS10 603632 8p23. 3-p22 Diamond-Blackfan anemia 2 2 606129 DBA2 606129 9q33. 3 . Diamond-Blackfan anemia 19 AD 3 618312 RPL35 618315 10q22. 3 Diamond-blackfan anemia 3 AD 3 610629 RPS24 602412 12q13. 2 Diamond-Blackfan anemia 10 AD 3 613309 RPS26 603701 14q21. 3 Diamond-Blackfan anemia 13 AD 3 615909 RPS29 603633 15q25 VSports app下载. 2 Diamond-Blackfan anemia 4 AD 3 612527 RPS17 180472 16p12. 3 . Diamond-Blackfan anemia 20 AD 3 618313 RPS15A 603674 16q12. 1 Diamond-Blackfan anemia 21 AR 3 620072 HEATR3 614951 17p13. 1 . Diamond-Blackfan anemia 11 AD 3 614900 RPL26 603704 17q21. 31 . Diamond-Blackfan anemia 16 AD 3 617408 RPL27 607526 18q21. 1 Diamond-Blackfan anemia 22 AD 3 621262 RPL17 603661 19p13. 2 Diamond Blackfan anemia 15 with mandibulofacial dysostosis AD 3 606164 RPS28 603685 19q13. 2 Diamond-Blackfan anemia 1 AD 3 105650 RPS19 603474 19q13. 33 . Diamond-Blackfan anemia 18 AD 3 618310 RPL18 604179 Xp11. 22 . Diamond-Blackfan anemia 14 with mandibulofacial dysostosis XLR 3 300946 TSR2 300945 ▲ Close ▼ TEXT A number sign (#) is used with this entry because of evidence that Diamond-Blackfan anemia-17 (DBA17) is caused by heterozygous mutation in the RPS27 gene (603702) on chromosome 1q21. One such patient has been reported.

For a general phenotypic description and discussion of genetic heterogeneity of Diamond-Blackfan anemia, see DBA1 (105650).


▼ Clinical Features

Wang et al VSports手机版. (2015) studied a 4-year-old Japanese girl (patient 42) who was diagnosed with Diamond-Blackfan anemia at 2 months of age. She had no other abnormalities except for skin pigmentation, and she responded to steroid treatment. There was no family history of anemia. .

▼ Molecular Genetics

In 48 Japanese patients with DBA in whom screening for mutations or large deletions in 8 of the known DBA-associated genes was negative, Wang et al. (2015) performed whole-exome sequencing and identified heterozygosity for a 1-bp deletion in the RPS27 gene (603702 V体育安卓版. 0001) in an affected 4-year-old girl (patient 42). .

▼ REFERENCES

Wang, R. , Yoshida, K. , Toki, T. , Sawada, T. , Uechi, T. , Okuno, Y. , Sato-Otsubo, A. , Kudo, K. , Kamimaki, I. , Kanezaki, R. , Shiraishi, Y. , Chiba, K. , and 21 others. Loss of function mutations in RPL27 and RPS27 identified by whole exome sequencing in Diamond-Blackfan anaemia. Brit V体育ios版. J. Haemat. 168: 854-864, 2015. [PubMed: 25424902, related citations] [Full Text] .


Creation Date:
Marla J. F. O'Neill : 03/28/2017
Edit History:
carol : 03/28/2017

# 617409

DIAMOND-BLACKFAN ANEMIA 17; DBA17


ORPHA: 124;   DO: 0111880;   MONDO: 0044310;  


Phenotype-Gene Relationships

Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key 		Gene/Locus Gene/Locus
MIM number
1q21.3 ?Diamond-Blackfan anemia 17 617409 Autosomal dominant 3 RPS27 603702

TEXT

A number sign (#) is used with this entry because of evidence that Diamond-Blackfan anemia-17 (DBA17) is caused by heterozygous mutation in the RPS27 gene (603702) on chromosome 1q21. One such patient has been reported V体育平台登录.

For a general phenotypic description and discussion of genetic heterogeneity of Diamond-Blackfan anemia, see DBA1 (105650).

Clinical Features

Wang et al. (2015) studied a 4-year-old Japanese girl (patient 42) who was diagnosed with Diamond-Blackfan anemia at 2 months of age. She had no other abnormalities except for skin pigmentation, and she responded to steroid treatment. There was no family history of anemia. V体育官网入口.

Molecular Genetics

In 48 Japanese patients with DBA in whom screening for mutations or large deletions in 8 of the known DBA-associated genes was negative, Wang et al. (2015) performed whole-exome sequencing and identified heterozygosity for a 1-bp deletion in the RPS27 gene (603702 VSports在线直播. 0001) in an affected 4-year-old girl (patient 42). .

REFERENCES

Wang, R. , Yoshida, K. , Toki, T. , Sawada, T. , Uechi, T. , Okuno, Y. , Sato-Otsubo, A. , Kudo, K. , Kamimaki, I. , Kanezaki, R. , Shiraishi, Y. , Chiba, K. , and 21 others. Loss of function mutations in RPL27 and RPS27 identified by whole exome sequencing in Diamond-Blackfan anaemia. Brit. J. Haemat. 168: 854-864, 2015. [PubMed: 25424902] [Full Text: https://doi. org/10 V体育2025版. 1111/bjh. 13229] .


Creation Date:
Marla J. F. O'Neill : 03/28/2017

Edit History:
carol : 03/28/2017



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