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 57 29 6
Dba14 57 75
Anemia, Diamond-Blackfan, Type 14 with Mandibulofacial Dysostosis 40
Diamond-Blackfan Anemia 14, with Mandibulofacial Dysostosis 75

Characteristics:

OMIM:

57
Inheritance:
x-linked recessive

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


HPO:

32
diamond-blackfan anemia 14 with mandibulofacial dysostosis:
Inheritance x-linked recessive inheritance


Classifications:



External Ids:

OMIM 57 300946
MeSH 44 D029503

Summaries for Diamond-Blackfan Anemia 14 with Mandibulofacial Dysostosis

UniProtKB/Swiss-Prot : 75 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 micrognathia and conductive hearing impairment

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:

57
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:

32 (show all 6)
# Description HPO Frequency HPO Source Accession
1 micrognathia 32 HP:0000347
2 conductive hearing impairment 32 HP:0000405
3 downslanted palpebral fissures 32 HP:0000494
4 macrocytic anemia 32 HP:0001972
5 microtia 32 HP:0008551
6 midface retrusion 32 HP:0011800

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

Variations for Diamond-Blackfan Anemia 14 with Mandibulofacial Dysostosis

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

75
# 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
2 TSR2 NM_058163.2(TSR2): c.191A> G (p.Glu64Gly) single nucleotide variant Pathogenic rs786203996 GRCh38 Chromosome X, 54443418: 54443418

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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