MCID: DMN037
MIFTS: 15

Diamond-Blackfan Anemia 14 with Mandibulofacial Dysostosis

Categories: 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 53 28
Dba14 53 71
Diamond-Blackfan Anemia 14, with Mandibulofacial Dysostosis 71

Characteristics:

OMIM:

53
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:

OMIM 53 300946
MeSH 41 D029503

Summaries for Diamond-Blackfan Anemia 14 with Mandibulofacial Dysostosis

UniProtKB/Swiss-Prot : 71 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, and has symptoms including microtia, micrognathia and downslanted palpebral fissures. An important gene associated with Diamond-Blackfan Anemia 14 with Mandibulofacial Dysostosis is TSR2 (TSR2, Ribosome Maturation Factor).

Description from OMIM: 300946

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

Symptoms via clinical synopsis from OMIM:

53
Head And Neck Face:
midface hypoplasia
micrognathia

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

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

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


Clinical features from OMIM:

300946

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

31 (show all 6)
# 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 macrocytic anemia 31 HP:0001972

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 28 TSR2

Anatomical Context for Diamond-Blackfan Anemia 14 with Mandibulofacial Dysostosis

Publications for Diamond-Blackfan Anemia 14 with Mandibulofacial Dysostosis

Variations for Diamond-Blackfan Anemia 14 with Mandibulofacial Dysostosis

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

71
# Symbol AA change Variation ID SNP ID
1 TSR2 p.Glu64Gly VAR_073396 rs786203996

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TSR2 NM_058163.2(TSR2): c.191A> G (p.Glu64Gly) single nucleotide variant Pathogenic rs786203996 GRCh37 Chromosome X, 54469851: 54469851

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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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