DBA15
MCID: DMN043
MIFTS: 30

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 56 29 6
Dba15 56 73
Anemia, Diamond Blackfan, Type 15 with Mandibulofacial Dysostosis 39
Diamond-Blackfan Anemia 15, with Mandibulofacial Dysostosis 73
Diamond Blackfan Anemia 15 with Mandibulofacial Dysostosis 56
Diamond-Blackfan Anemia with Microtia and Cleft Palate 73

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

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


HPO:

31
diamond-blackfan anemia 15 with mandibulofacial dysostosis:
Inheritance autosomal dominant inheritance
Onset and clinical course infantile onset


Classifications:



Summaries for Diamond-Blackfan Anemia 15 with Mandibulofacial Dysostosis

UniProtKB/Swiss-Prot : 73 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 klippel-feil syndrome. An important gene associated with Diamond-Blackfan Anemia 15 with Mandibulofacial Dysostosis is RPS28 (Ribosomal Protein S28), and among its related pathways/superpathways are Influenza Viral RNA Transcription and Replication and 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 9.7 TSR2 RPS28
2 klippel-feil syndrome 9.4 TSR2 RPS26
3 shwachman-diamond syndrome 1 9.2 RPS28 RPS26
4 diamond-blackfan anemia 9.1 TSR2 RPS28 RPS26
5 macrocytic anemia 9.0 TSR2 RPS28 RPS26

Graphical network of the top 20 diseases related to Diamond-Blackfan Anemia 15 with Mandibulofacial Dysostosis:



Diseases related to Diamond-Blackfan Anemia 15 with Mandibulofacial Dysostosis

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

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

31 (show all 16)
# Description HPO Frequency HPO Source Accession
1 global developmental delay 31 HP:0001263
2 microtia 31 HP:0008551
3 short stature 31 HP:0004322
4 feeding difficulties 31 HP:0011968
5 micrognathia 31 HP:0000347
6 downslanted palpebral fissures 31 HP:0000494
7 midface retrusion 31 HP:0011800
8 respiratory distress 31 HP:0002098
9 epicanthus 31 HP:0000286
10 broad neck 31 HP:0000475
11 posteriorly rotated ears 31 HP:0000358
12 congenital diaphragmatic hernia 31 HP:0000776
13 macrocytic anemia 31 HP:0001972
14 mixed hearing impairment 31 HP:0000410
15 granulocytopenia 31 HP:0001913
16 sparse and thin eyebrow 31 HP:0000535

Symptoms via clinical synopsis from OMIM:

56
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 9.16 RPS26 RPS28
2 Nuclear 40S maturation defects GR00209-A-2 8.96 RPS26 RPS28
3 Nucleoplasmic 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. 56
24942156 2014
2
Diamond-Blackfan Anemia 6
20301769 2009
3
Bilateral microtia and cleft palate in cousins with Diamond-Blackfan anemia. 56
11424144 2001
4
Diamond-Blackfan anemia associated with Treacher-Collins syndrome. 56
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 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
2 RPS28 NM_001031.5(RPS28):c.1A>G (p.Met1Val)SNV Pathogenic 187848 rs786203997 19:8386415-8386415 19:8321531-8321531
3 RPS26 NM_001029.5(RPS26):c.259C>T (p.Arg87Ter)SNV Pathogenic 187849 rs148942765 12:56437224-56437224 12:56043440-56043440
4 RPS26 NM_001029.5(RPS26):c.4-2A>TSNV Pathogenic 187850 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
11.6 RPS28 RPS26
2
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 translation GO:0006412 9.4 RPS28 RPS26
2 rRNA processing GO:0006364 9.37 TSR2 RPS28
3 translational initiation GO:0006413 9.32 RPS28 RPS26
4 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay GO:0000184 9.26 RPS28 RPS26
5 viral transcription GO:0019083 9.16 RPS28 RPS26
6 SRP-dependent cotranslational protein targeting to membrane GO:0006614 8.96 RPS28 RPS26
7 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 8.62 RPS28 RPS26

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 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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