MCID: DMN040
MIFTS: 22

Diamond-Blackfan Anemia 16

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

Aliases & Classifications for Diamond-Blackfan Anemia 16

MalaCards integrated aliases for Diamond-Blackfan Anemia 16:

Name: Diamond-Blackfan Anemia 16 53 71 28
Dba16 53 71

Characteristics:

OMIM:

53
Inheritance:
autosomal dominant

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


HPO:

31
diamond-blackfan anemia 16:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Diamond-Blackfan Anemia 16

UniProtKB/Swiss-Prot : 71 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, and has symptoms including atrial septal defect, pulmonic stenosis and anemia. 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 and bone marrow.

Description from OMIM: 617408

Related Diseases for Diamond-Blackfan Anemia 16

Symptoms & Phenotypes for Diamond-Blackfan Anemia 16

Symptoms via clinical synopsis from OMIM:

53
Cardiovascular Heart:
atrial septal defect

Hematology:
anemia
hypercellularity of bone marrow

Cardiovascular Vascular:
pulmonary stenosis


Clinical features from OMIM:

617408

Human phenotypes related to Diamond-Blackfan Anemia 16:

31
# Description HPO Frequency HPO Source Accession
1 atrial septal defect 31 HP:0001631
2 pulmonic stenosis 31 HP:0001642
3 anemia 31 HP:0001903

Drugs & Therapeutics for Diamond-Blackfan Anemia 16

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

(show all 11)
# 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, 75614-87-8 774
3
Zopiclone Approved Early Phase 1 43200-80-2 5735
4 Antidepressive Agents Early Phase 1
5 Antidepressive Agents, Tricyclic Early Phase 1
6 Central Nervous System Depressants Early Phase 1
7 Histamine Antagonists Early Phase 1
8
Histamine Phosphate Early Phase 1 51-74-1 65513
9 Hypnotics and Sedatives Early Phase 1
10 Neurotransmitter Agents Early Phase 1
11 Psychotropic Drugs 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 Treatments for Insomnia in Patients With Parkinson's Disease Completed NCT01489982 Early Phase 1 Doxepin and Zopiclone
3 Group Cognitive Behavioral Therapy and Acupressure for Insomnia Recruiting NCT03291301
4 A Comparison of CBTi and Usual Treatment for Tinnitus Related Insomnia Recruiting NCT03386123
5 Cognitive Behavioral Therapy for Insomnia Among Different Types of Shift Workers Recruiting NCT02523079
6 i-Sleep: Internet-based Treatment for Insomnia Active, not recruiting NCT03110263

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 28 RPL27

Anatomical Context for Diamond-Blackfan Anemia 16

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

38
Bone, Bone Marrow

Publications for Diamond-Blackfan Anemia 16

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_000988.4(RPL27): c.-2-1G> A single nucleotide variant Pathogenic rs1085307119 GRCh37 Chromosome 17, 41150765: 41150765

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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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