DBA16
MCID: DMN040
MIFTS: 24

Diamond-Blackfan Anemia 16 (DBA16)

Categories: Blood diseases, Bone diseases, Fetal diseases, Genetic diseases, Immune diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Diamond-Blackfan Anemia 16

MalaCards integrated aliases for Diamond-Blackfan Anemia 16:

Name: Diamond-Blackfan Anemia 16 58 76 30 6
Dba16 58 76
Anemia, Diamond-Blackfan, Type 16 41

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
based on report of 1 patient (last curated march 2017)
diagnosed at birth


HPO:

33
diamond-blackfan anemia 16:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Diamond-Blackfan Anemia 16

UniProtKB/Swiss-Prot : 76 Diamond-Blackfan anemia 16: 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 16, is also known as dba16. An important gene associated with Diamond-Blackfan Anemia 16 is RPL27 (Ribosomal Protein L27). The drugs Doxepin and Histamine have been mentioned in the context of this disorder. Affiliated tissues include bone, brain and bone marrow, and related phenotypes are anemia and atrial septal defect

Description from OMIM: 617408

Related Diseases for Diamond-Blackfan Anemia 16

Symptoms & Phenotypes for Diamond-Blackfan Anemia 16

Human phenotypes related to Diamond-Blackfan Anemia 16:

33
# Description HPO Frequency HPO Source Accession
1 anemia 33 HP:0001903
2 atrial septal defect 33 HP:0001631
3 pulmonic stenosis 33 HP:0001642

Symptoms via clinical synopsis from OMIM:

58
Hematology:
anemia
hypercellularity of bone marrow

Cardiovascular Vascular:
pulmonary stenosis

Cardiovascular Heart:
atrial septal defect

Clinical features from OMIM:

617408

Drugs & Therapeutics for Diamond-Blackfan Anemia 16

Drugs for Diamond-Blackfan Anemia 16 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 14)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Doxepin Approved, Investigational Early Phase 1 1668-19-5 667468 667477
2
Histamine Approved, Investigational Early Phase 1 51-45-6 774
3
Promethazine Approved, Investigational Early Phase 1 60-87-7 4927
4
Diphenhydramine Approved, Investigational Early Phase 1 147-24-0, 58-73-1 3100
5
Zopiclone Approved Early Phase 1 43200-80-2 5735
6 Pharmaceutical Solutions Not Applicable
7
Histamine Phosphate Early Phase 1 51-74-1 65513
8 Antidepressive Agents Early Phase 1
9 Central Nervous System Depressants Early Phase 1
10 Antidepressive Agents, Tricyclic Early Phase 1
11 Histamine Antagonists Early Phase 1
12 Neurotransmitter Agents Early Phase 1
13 Psychotropic Drugs Early Phase 1
14 Hypnotics and Sedatives Early Phase 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Effectiveness of Internet Cognitive Behavioral Therapy Intervention for Treating Insomnia Completed NCT00328250 Phase 1, Phase 2
2 Auricular Acupuncture and Cognitive Behavioral Therapy Treatment for Insomnia Completed NCT01765959 Not Applicable
3 Group Cognitive Behavioral Therapy and Acupressure for Insomnia Completed NCT03291301 Not Applicable
4 Treatment of Insomnia for Adolescents With Mild Traumatic Brain Injury Completed NCT03688984 Not Applicable
5 Treatments for Insomnia in Patients With Parkinson's Disease Completed NCT01489982 Early Phase 1 Doxepin and Zopiclone
6 A Comparison of CBTi and Usual Treatment for Tinnitus Related Insomnia Recruiting NCT03386123 Not Applicable
7 A Pragmatic Pilot Study of Cognitive Behavioural Therapy for Insomnia Among People Living With HIV Recruiting NCT02887209 Not Applicable
8 Cognitive Behavioral Therapy for Insomnia Among Different Types of Shift Workers Active, not recruiting NCT02523079 Not Applicable
9 Reducing Health Disparities for Black Women in the Treatment of Insomnia Not yet recruiting NCT03613519 Not Applicable
10 i-Sleep: Internet-based Treatment for Insomnia Terminated NCT03110263 Not Applicable

Search NIH Clinical Center for Diamond-Blackfan Anemia 16

Genetic Tests for Diamond-Blackfan Anemia 16

Genetic tests related to Diamond-Blackfan Anemia 16:

# Genetic test Affiliating Genes
1 Diamond-Blackfan Anemia 16 30 RPL27

Anatomical Context for Diamond-Blackfan Anemia 16

MalaCards organs/tissues related to Diamond-Blackfan Anemia 16:

42
Bone, Brain, Bone Marrow

Publications for Diamond-Blackfan Anemia 16

Articles related to Diamond-Blackfan Anemia 16:

# Title Authors Year
1
Loss of function mutations in RPL27 and RPS27 identified by whole-exome sequencing in Diamond-Blackfan anaemia. ( 25424902 )
2015

Variations for Diamond-Blackfan Anemia 16

ClinVar genetic disease variations for Diamond-Blackfan Anemia 16:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 RPL27 NM_000988.5(RPL27): c.-2-1G> A single nucleotide variant Pathogenic rs1085307119 GRCh37 Chromosome 17, 41150765: 41150765
2 RPL27 NM_000988.5(RPL27): c.-2-1G> A single nucleotide variant Pathogenic rs1085307119 GRCh38 Chromosome 17, 42998748: 42998748

Expression for Diamond-Blackfan Anemia 16

Search GEO for disease gene expression data for Diamond-Blackfan Anemia 16.

Pathways for Diamond-Blackfan Anemia 16

GO Terms for Diamond-Blackfan Anemia 16

Sources for Diamond-Blackfan Anemia 16

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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