DBA15
MCID: DMN043
MIFTS: 29

Diamond-Blackfan Anemia 15 with Mandibulofacial Dysostosis (DBA15)

Categories: Genetic diseases

Aliases & Classifications for Diamond-Blackfan Anemia 15 with Mandibulofacial Dysostosis

MalaCards integrated aliases for Diamond-Blackfan Anemia 15 with Mandibulofacial Dysostosis:

Name: Diamond-Blackfan Anemia 15 with Mandibulofacial Dysostosis 57 29 6
Dba15 57 74
Anemia, Diamond Blackfan, Type 15 with Mandibulofacial Dysostosis 40
Diamond-Blackfan Anemia 15, with Mandibulofacial Dysostosis 74
Diamond Blackfan Anemia 15 with Mandibulofacial Dysostosis 57
Diamond-Blackfan Anemia with Microtia and Cleft Palate 74

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
onset in infancy
two unrelated patients have been reported
both mutations occurred de novo


HPO:

32
diamond-blackfan anemia 15 with mandibulofacial dysostosis:
Inheritance autosomal dominant inheritance
Onset and clinical course infantile onset


Classifications:



External Ids:

MeSH 44 D029503

Summaries for Diamond-Blackfan Anemia 15 with Mandibulofacial Dysostosis

UniProtKB/Swiss-Prot : 74 Diamond-Blackfan anemia 15, 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 15 with Mandibulofacial Dysostosis, also known as dba15, is related to dysostosis and diamond-blackfan anemia 10. An important gene associated with Diamond-Blackfan Anemia 15 with Mandibulofacial Dysostosis is RPS28 (Ribosomal Protein S28), and among its related pathways/superpathways is Activation of the mRNA upon binding of the cap-binding complex and eIFs, and subsequent binding to 43S. Related phenotypes are global developmental delay and microtia

More information from OMIM: 606164 PS105650

Related Diseases for Diamond-Blackfan Anemia 15 with Mandibulofacial Dysostosis

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

Diamond-Blackfan Anemia 14 with Mandibulofacial Dysostosis

Diseases related to Diamond-Blackfan Anemia 15 with Mandibulofacial Dysostosis via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 dysostosis 9.5 TSR2 RPS28
2 diamond-blackfan anemia 10 9.4 RPS26 LOC105369780
3 macrocytic anemia 8.9 TSR2 RPS28 RPS26
4 diamond-blackfan anemia 8.0 TSR2 RPS28 RPS26 NDUFA7 LOC105369780

Symptoms & Phenotypes for Diamond-Blackfan Anemia 15 with Mandibulofacial Dysostosis

Human phenotypes related to Diamond-Blackfan Anemia 15 with Mandibulofacial Dysostosis:

32 (show all 16)
# Description HPO Frequency HPO Source Accession
1 global developmental delay 32 HP:0001263
2 microtia 32 HP:0008551
3 short stature 32 HP:0004322
4 micrognathia 32 HP:0000347
5 feeding difficulties 32 HP:0011968
6 respiratory distress 32 HP:0002098
7 epicanthus 32 HP:0000286
8 broad neck 32 HP:0000475
9 downslanted palpebral fissures 32 HP:0000494
10 congenital diaphragmatic hernia 32 HP:0000776
11 midface retrusion 32 HP:0011800
12 macrocytic anemia 32 HP:0001972
13 posteriorly rotated ears 32 HP:0000358
14 mixed hearing impairment 32 HP:0000410
15 granulocytopenia 32 HP:0001913
16 sparse and thin eyebrow 32 HP:0000535

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Ears:
microtia
small or atretic external auditory canals
mixed hearing loss (patient a)
posteriorly rotated ears (patient b)
sensorineural hearing loss (patient b)

Head And Neck Face:
micrognathia
midface hypoplasia

Head And Neck Eyes:
downslanting palpebral fissures
sparse eyebrows (patient b)
epicanthal folds (patient b)
absence of eyelashes on the medial aspects of the lower lids (patient a)

Growth Other:
poor overall growth (patient a)

Head And Neck Neck:
wide neck (patient b)

Chest Diaphragm:
diaphragmatic hernia (patient a)

Skeletal Hands:
immobile thumbs at the interphalangeal joint (patient a)

Growth Height:
short stature

Hematology:
macrocytic anemia
increased fetal hemoglobin
increased erythrocyte adenosine deaminase activity
granulocytopenia, intermittent (patient a)

Neurologic Central Nervous System:
delayed psychomotor development

Head And Neck Mouth:
submucosal cleft palate (patient a) bifid uvula (patient b)

Respiratory:
respiratory difficulties (patient a)

Abdomen Gastrointestinal:
feeding difficulties (patient a)

Clinical features from OMIM:

606164

GenomeRNAi Phenotypes related to Diamond-Blackfan Anemia 15 with Mandibulofacial Dysostosis according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased Hepatitis C virus replication GR00180-A-1 9.26 RPS26 RPS28
2 Increased number of mitotic cells GR00098-A-3 9.16 NDUFA7 RPS26
3 Nuclear 40S maturation defects GR00209-A-2 8.96 RPS26 RPS28
4 Nucleolar pre-40S maturation defects GR00209-A-1 8.62 RPS26 RPS28

Drugs & Therapeutics for Diamond-Blackfan Anemia 15 with Mandibulofacial Dysostosis

Search Clinical Trials , NIH Clinical Center for Diamond-Blackfan Anemia 15 with Mandibulofacial Dysostosis

Genetic Tests for Diamond-Blackfan Anemia 15 with Mandibulofacial Dysostosis

Genetic tests related to Diamond-Blackfan Anemia 15 with Mandibulofacial Dysostosis:

# Genetic test Affiliating Genes
1 Diamond-Blackfan Anemia 15 with Mandibulofacial Dysostosis 29 RPS28

Anatomical Context for Diamond-Blackfan Anemia 15 with Mandibulofacial Dysostosis

Publications for Diamond-Blackfan Anemia 15 with Mandibulofacial Dysostosis

Articles related to Diamond-Blackfan Anemia 15 with Mandibulofacial Dysostosis:

# Title Authors PMID Year
1
Diamond-Blackfan anemia with mandibulofacial dystostosis is heterogeneous, including the novel DBA genes TSR2 and RPS28. 8
24942156 2014
2
Diamond-Blackfan Anemia 71
20301769 2009
3
Bilateral microtia and cleft palate in cousins with Diamond-Blackfan anemia. 8
11424144 2001
4
Diamond-Blackfan anemia associated with Treacher-Collins syndrome. 8
8217543 1993

Variations for Diamond-Blackfan Anemia 15 with Mandibulofacial Dysostosis

ClinVar genetic disease variations for Diamond-Blackfan Anemia 15 with Mandibulofacial Dysostosis:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 TSR2 NM_058163.3(TSR2): c.191A> G (p.Glu64Gly) single nucleotide variant Pathogenic rs786203996 X:54469851-54469851 X:54443418-54443418
2 RPS28 NM_001031.5(RPS28): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic rs786203997 19:8386415-8386415 19:8321531-8321531
3 RPS26 NM_001029.5(RPS26): c.259C> T (p.Arg87Ter) single nucleotide variant Pathogenic rs148942765 12:56437224-56437224 12:56043440-56043440
4 RPS26 NM_001029.5(RPS26): c.4-2A> T single nucleotide variant Pathogenic rs786203998 12:56436207-56436207 12:56042423-56042423

Expression for Diamond-Blackfan Anemia 15 with Mandibulofacial Dysostosis

Search GEO for disease gene expression data for Diamond-Blackfan Anemia 15 with Mandibulofacial Dysostosis.

Pathways for Diamond-Blackfan Anemia 15 with Mandibulofacial Dysostosis

Pathways related to Diamond-Blackfan Anemia 15 with Mandibulofacial Dysostosis according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11 RPS28 RPS26

GO Terms for Diamond-Blackfan Anemia 15 with Mandibulofacial Dysostosis

Cellular components related to Diamond-Blackfan Anemia 15 with Mandibulofacial Dysostosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ribosome GO:0005840 9.37 RPS28 RPS26
2 rough endoplasmic reticulum GO:0005791 9.32 RPS28 RPS26
3 cytosolic small ribosomal subunit GO:0022627 9.26 RPS28 RPS26
4 polysomal ribosome GO:0042788 9.16 RPS28 RPS26
5 small ribosomal subunit GO:0015935 8.96 RPS28 RPS26
6 cytoplasmic side of rough endoplasmic reticulum membrane GO:0098556 8.62 RPS28 RPS26

Biological processes related to Diamond-Blackfan Anemia 15 with Mandibulofacial Dysostosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 rRNA processing GO:0006364 9.32 TSR2 RPS28
2 translational initiation GO:0006413 9.26 RPS28 RPS26
3 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay GO:0000184 9.16 RPS28 RPS26
4 SRP-dependent cotranslational protein targeting to membrane GO:0006614 8.96 RPS28 RPS26
5 cytoplasmic translation GO:0002181 8.62 RPS28 RPS26

Molecular functions related to Diamond-Blackfan Anemia 15 with Mandibulofacial Dysostosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 structural constituent of ribosome GO:0003735 8.8 RPS28 RPS26 NDUFA7

Sources for Diamond-Blackfan Anemia 15 with Mandibulofacial Dysostosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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