MCID: DMN040
MIFTS: 22

Diamond-Blackfan Anemia 16

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

Aliases & Classifications for Diamond-Blackfan Anemia 16

MalaCards integrated aliases for Diamond-Blackfan Anemia 16:

Name: Diamond-Blackfan Anemia 16 57 75 29 6
Dba16 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
diamond-blackfan anemia 16:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Diamond-Blackfan Anemia 16

UniProtKB/Swiss-Prot : 75 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 and bone marrow, and related phenotypes are atrial septal defect and pulmonic stenosis

Description from OMIM: 617408

Related Diseases for Diamond-Blackfan Anemia 16

Symptoms & Phenotypes for Diamond-Blackfan Anemia 16

Symptoms via clinical synopsis from OMIM:

57
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:

32
# Description HPO Frequency HPO Source Accession
1 atrial septal defect 32 HP:0001631
2 pulmonic stenosis 32 HP:0001642
3 anemia 32 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 12)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Doxepin Approved, Investigational Early Phase 1 1668-19-5 667477 667468
2
Histamine Approved, Investigational Early Phase 1 75614-87-8, 51-45-6 774
3
Zopiclone Approved Early Phase 1 43200-80-2 5735
4 Pharmaceutical Solutions Not Applicable
5 Antidepressive Agents Early Phase 1
6 Antidepressive Agents, Tricyclic Early Phase 1
7 Central Nervous System Depressants Early Phase 1
8 Histamine Antagonists Early Phase 1
9
Histamine Phosphate Early Phase 1 51-74-1 65513
10 Hypnotics and Sedatives Early Phase 1
11 Neurotransmitter Agents Early Phase 1
12 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 Auricular Acupuncture and Cognitive Behavioral Therapy Treatment for Insomnia Completed NCT01765959 Not Applicable
3 Treatments for Insomnia in Patients With Parkinson's Disease Completed NCT01489982 Early Phase 1 Doxepin and Zopiclone
4 Group Cognitive Behavioral Therapy and Acupressure for Insomnia Recruiting NCT03291301 Not Applicable
5 A Comparison of CBTi and Usual Treatment for Tinnitus Related Insomnia Recruiting NCT03386123 Not Applicable
6 Cognitive Behavioral Therapy for Insomnia Among Different Types of Shift Workers Recruiting NCT02523079 Not Applicable
7 A Pragmatic Pilot Study of Cognitive Behavioural Therapy for Insomnia Among People Living With HIV Recruiting NCT02887209 Not Applicable
8 i-Sleep: Internet-based Treatment for Insomnia Active, not recruiting 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 29 RPL27

Anatomical Context for Diamond-Blackfan Anemia 16

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

41
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
2 RPL27 NM_000988.4(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 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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