MCID: DMN043
MIFTS: 30

Diamond-Blackfan Anemia 15 with Mandibulofacial Dysostosis

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 75
Anemia, Diamond Blackfan, Type 15 with Mandibulofacial Dysostosis 40
Diamond-Blackfan Anemia 15, with Mandibulofacial Dysostosis 75
Diamond Blackfan Anemia 15 with Mandibulofacial Dysostosis 57
Diamond-Blackfan Anemia with Microtia and Cleft Palate 75

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:
Onset and clinical course infantile onset
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Diamond-Blackfan Anemia 15 with Mandibulofacial Dysostosis

UniProtKB/Swiss-Prot : 75 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 diamond-blackfan anemia 10 and dysostosis. 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 epicanthus and micrognathia

Description from OMIM: 606164

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 diamond-blackfan anemia 10 9.5 LOC105369780 RPS26
2 dysostosis 9.1 RPS28 TSR2
3 pierre robin syndrome 8.9 RPS26 RPS28 TSR2
4 macrocytic anemia 8.8 RPS26 RPS28 TSR2
5 diamond-blackfan anemia 7.6 LOC105369780 NDUFA7 RPS26 RPS28 TSR2

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

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

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

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

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 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

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 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
3 RPS28 NM_001031.4(RPS28): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic rs786203997 GRCh37 Chromosome 19, 8386415: 8386415
4 RPS28 NM_001031.4(RPS28): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic rs786203997 GRCh38 Chromosome 19, 8321531: 8321531
5 RPS26 NM_001029.4(RPS26): c.259C> T (p.Arg87Ter) single nucleotide variant Pathogenic rs148942765 GRCh37 Chromosome 12, 56437224: 56437224
6 RPS26 NM_001029.4(RPS26): c.259C> T (p.Arg87Ter) single nucleotide variant Pathogenic rs148942765 GRCh38 Chromosome 12, 56043440: 56043440
7 RPS26 NM_001029.4(RPS26): c.4-2A> T single nucleotide variant Pathogenic rs786203998 GRCh37 Chromosome 12, 56436207: 56436207
8 RPS26 NM_001029.4(RPS26): c.4-2A> T single nucleotide variant Pathogenic rs786203998 GRCh38 Chromosome 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
11.02 RPS26 RPS28

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 RPS26 RPS28
2 rough endoplasmic reticulum GO:0005791 9.32 RPS26 RPS28
3 cytosolic small ribosomal subunit GO:0022627 9.26 RPS26 RPS28
4 polysomal ribosome GO:0042788 9.16 RPS26 RPS28
5 small ribosomal subunit GO:0015935 8.96 RPS26 RPS28
6 cytoplasmic side of rough endoplasmic reticulum membrane GO:0098556 8.62 RPS26 RPS28

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 translational initiation GO:0006413 9.37 RPS26 RPS28
2 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay GO:0000184 9.32 RPS26 RPS28
3 viral transcription GO:0019083 9.26 RPS26 RPS28
4 SRP-dependent cotranslational protein targeting to membrane GO:0006614 9.16 RPS26 RPS28
5 cytoplasmic translation GO:0002181 8.96 RPS26 RPS28
6 rRNA processing GO:0006364 8.8 RPS26 RPS28 TSR2

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 NDUFA7 RPS26 RPS28

Sources for Diamond-Blackfan Anemia 15 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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