DBA14
MCID: DMN037
MIFTS: 18

Diamond-Blackfan Anemia 14 with Mandibulofacial Dysostosis (DBA14)

Categories: Blood diseases, Genetic diseases

Aliases & Classifications for Diamond-Blackfan Anemia 14 with Mandibulofacial Dysostosis

MalaCards integrated aliases for Diamond-Blackfan Anemia 14 with Mandibulofacial Dysostosis:

Name: Diamond-Blackfan Anemia 14 with Mandibulofacial Dysostosis 56 12 29 6
Dba14 56 12 73
Anemia, Diamond-Blackfan, Type 14 with Mandibulofacial Dysostosis 39
Diamond-Blackfan Anemia 14, with Mandibulofacial Dysostosis 73

Characteristics:

OMIM:

56
Inheritance:
x-linked recessive

Miscellaneous:
one family has been reported (last curated march 2015)


HPO:

31
diamond-blackfan anemia 14 with mandibulofacial dysostosis:
Inheritance x-linked recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111897
OMIM 56 300946
OMIM Phenotypic Series 56 PS105650
MeSH 43 D029503
UMLS 71 C4225422

Summaries for Diamond-Blackfan Anemia 14 with Mandibulofacial Dysostosis

UniProtKB/Swiss-Prot : 73 Diamond-Blackfan anemia 14, with mandibulofacial dysostosis: 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 14 with Mandibulofacial Dysostosis, is also known as dba14. An important gene associated with Diamond-Blackfan Anemia 14 with Mandibulofacial Dysostosis is TSR2 (TSR2 Ribosome Maturation Factor). Related phenotypes are microtia and micrognathia

Disease Ontology : 12 A Diamond-Blackfan anemia characterized by Diamond-Blackfan anemia, bilateral microtia, and cleft palate that has material basis in hemizygous mutation in TSR2 on chromosome Xp11.22.

More information from OMIM: 300946 PS105650

Related Diseases for Diamond-Blackfan Anemia 14 with Mandibulofacial Dysostosis

Diseases in the Diamond-Blackfan Anemia 15 with Mandibulofacial Dysostosis family:

Diamond-Blackfan Anemia 14 with Mandibulofacial Dysostosis

Symptoms & Phenotypes for Diamond-Blackfan Anemia 14 with Mandibulofacial Dysostosis

Human phenotypes related to Diamond-Blackfan Anemia 14 with Mandibulofacial Dysostosis:

31 (show all 7)
# Description HPO Frequency HPO Source Accession
1 microtia 31 HP:0008551
2 micrognathia 31 HP:0000347
3 downslanted palpebral fissures 31 HP:0000494
4 conductive hearing impairment 31 HP:0000405
5 midface retrusion 31 HP:0011800
6 sparse eyelashes 31 HP:0000653
7 macrocytic anemia 31 HP:0001972

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Ears:
microtia
conductive hearing loss
absent or hypoplastic external ear canals
abnormal middle ears (1 patient)

Hematology:
macrocytic anemia
increased fetal hemoglobin
elevated erythrocyte adenosine deaminase activity

Head And Neck Face:
micrognathia
midface hypoplasia

Head And Neck Eyes:
downslanting palpebral fissures
sparse eyelashes on the medial lower lid

Clinical features from OMIM:

300946

Drugs & Therapeutics for Diamond-Blackfan Anemia 14 with Mandibulofacial Dysostosis

Search Clinical Trials , NIH Clinical Center for Diamond-Blackfan Anemia 14 with Mandibulofacial Dysostosis

Genetic Tests for Diamond-Blackfan Anemia 14 with Mandibulofacial Dysostosis

Genetic tests related to Diamond-Blackfan Anemia 14 with Mandibulofacial Dysostosis:

# Genetic test Affiliating Genes
1 Diamond-Blackfan Anemia 14 with Mandibulofacial Dysostosis 29 TSR2

Anatomical Context for Diamond-Blackfan Anemia 14 with Mandibulofacial Dysostosis

Publications for Diamond-Blackfan Anemia 14 with Mandibulofacial Dysostosis

Articles related to Diamond-Blackfan Anemia 14 with Mandibulofacial Dysostosis:

# Title Authors PMID Year
1
Diamond-Blackfan anemia with mandibulofacial dystostosis is heterogeneous, including the novel DBA genes TSR2 and RPS28. 56 6
24942156 2014
2
Bilateral microtia and cleft palate in cousins with Diamond-Blackfan anemia. 6 56
11424144 2001
3
Diamond-Blackfan Anemia 6
20301769 2009

Variations for Diamond-Blackfan Anemia 14 with Mandibulofacial Dysostosis

ClinVar genetic disease variations for Diamond-Blackfan Anemia 14 with Mandibulofacial Dysostosis:

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TSR2 NM_058163.3(TSR2):c.191A>G (p.Glu64Gly)SNV Pathogenic 187847 rs786203996 X:54469851-54469851 X:54443418-54443418

UniProtKB/Swiss-Prot genetic disease variations for Diamond-Blackfan Anemia 14 with Mandibulofacial Dysostosis:

73
# Symbol AA change Variation ID SNP ID
1 TSR2 p.Glu64Gly VAR_073396 rs786203996

Expression for Diamond-Blackfan Anemia 14 with Mandibulofacial Dysostosis

Search GEO for disease gene expression data for Diamond-Blackfan Anemia 14 with Mandibulofacial Dysostosis.

Pathways for Diamond-Blackfan Anemia 14 with Mandibulofacial Dysostosis

GO Terms for Diamond-Blackfan Anemia 14 with Mandibulofacial Dysostosis

Sources for Diamond-Blackfan Anemia 14 with Mandibulofacial Dysostosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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