Diamond-Blackfan Anemia 16 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

Sources

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:

MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases Fetal diseases
Anatomical: Blood diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁷ 617408

MedGen ⁴² C4479424 CN241838

MeSH ⁴⁴ D029503

SNOMED-CT via HPO ⁶⁹ 263681008 253366007 405752007 more

Sources

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

Sources

Related Diseases for Diamond-Blackfan Anemia 16

Diseases in the Diamond-Blackfan Anemia family:

Diamond-Blackfan Anemia 1	Diamond-Blackfan Anemia 2
Diamond-Blackfan Anemia 3	Diamond-Blackfan Anemia 4
Diamond-Blackfan Anemia 5	Diamond-Blackfan Anemia 6
Diamond-Blackfan Anemia 7	Diamond-Blackfan Anemia 8
Diamond-Blackfan Anemia 9	Diamond-Blackfan Anemia 10
Diamond-Blackfan Anemia 11	Diamond-Blackfan Anemia 12
Diamond-Blackfan Anemia 13	Diamond-Blackfan Anemia 16
Diamond-Blackfan Anemia 17	Diamond-Blackfan Anemia-Like

Sources

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 Source Accession
1	atrial septal defect ³²	HP:0001631
2	pulmonic stenosis ³²	HP:0001642
3	anemia ³²	HP:0001903

Sources

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

Synonyms:

(3E)-3-(6H-benzo[c][1]benzoxepin-11-ylidene)-N,N-dimethylpropan-1-amine

(3E)-3-dibenzo[b,e]oxepin-11(6H)-ylidene-N,N-dimethylpropan-1-amine

(3Z)-3-(6H-benzo[c][1]benzoxepin-11-ylidene)-N,N-di(methyl)propan-1-amine

(3Z)-3-(6H-benzo[c][1]benzoxepin-11-ylidene)-N,N-dimethylpropan-1-amine

(3Z)-3-dibenzo[b,e]oxepin-11(6H)-ylidene-N,N-dimethylpropan-1-amine

(Z)-Doxepin

11-(3-(Dimethylamino)propylidene)-6H-dibenz(b,e)oxepine

11-(3-Dimethylamino-propyliden)-6,11-dihydro-dibenz(b,e)oxipin

11-(3-Dimethylaminopropylidene)-6,11-dihydrodibenz(b,e)oxipin

1668-19-5

3-(6H-benzo[c][1]benzoxepin-11-ylidene)-N,N-dimethylpropan-1-amine

3607-18-9

3-Dibenz[b,e]oxepin-11(6H)-ylidene-N,N-dimethyl-1-propanamine

3-dibenzo[b,e]oxepin-11(6H)-ylidene-N,N-dimethylpropan-1-amine

AC1L1FAW

AC1LDI5F

AC1LDI63

AC1NUW4A

Adapin

AKOS001582771

apo Doxepin

apo-Doxepin

ApoDoxepin

Aponal

BPBio1_000118

BRD-K36616567-003-01-5

BRD-K37694030-003-02-8

BRD-K54462405-003-03-3

BSPBio_000106

BSPBio_001934

C06971

C19H21NO

CAS-1229-29-4

CCRIS 9176

CHEBI:36691

CHEBI:36692

CHEBI:4710

CHEMBL101740

CID10039438

CID3158

CID5462131

CID667468

CID667477

Cidoxepin

Cidoxepin [INN]

Cidoxepina

Cidoxepinum

cis-doxepin

cis-N-(3-(6H-Dibenz(b,e)oxepin-11-yliden)propyl)-N,N-dimethylamin

Curatin

D07875

DB01142

Deptran

Desidox

DivK1c_000431

Doneurin

Doxepia

doxepin

Doxepin

Doxepin (INN)

Doxepin (Z)-isomer

Doxepin [USAN]

Doxepin beta

Doxepin Hcl

Doxepin hydrochloride

Doxepin Hydrochloride,

Doxepin hydrochloride, cis-trans isomer mixture (approximately 1:5)

Doxepin RPH

Doxepin, Hydrochloride

Doxepina

Doxepina [INN-Spanish]

Doxepine

Doxepin-RPH

Doxepinum

Doxepinum [INN-Latin]

Espadox

HSDB 3069

Hydrochloride, doxepin

IDI1_000431

KBio1_000431

KBio2_001285

KBio2_003853

KBio2_006421

KBio3_001154

KBioGR_001131

KBioSS_001285

L000699

Lopac0_000339

Lopac-D-4526

LS-174582

LS-61638

Mareen

MF 10

MOLI001594

MolPort-003-847-024

MolPort-005-933-834

N,N-Dimethyldibenz(b,e)oxepin-delta(11(6H),gamma)-propylamine

NCGC00015344-01

NCGC00015344-02

NCGC00015344-04

NCGC00024623-01

NCGC00024623-02

NCGC00162127-01

NINDS_000431

novo Doxepin

novo-Doxepin

Oprea1_473232

Prestwick0_000263

Prestwick1_000263

Prestwick2_000263

Prestwick3_000263

Prudoxin

Quitaxon

Sinequan

Sinequan (TN)

Sinquan

SPBio_000206

SPBio_002325

Spectrum_000805

Spectrum2_000133

Spectrum3_000407

Spectrum4_000526

Spectrum5_001051

Tocris-0508

Triadapin

UNII-5ASJ6HUZ7D

UNII-F96TTB8728

Xepin

Zonalon

2

Histamine

Approved, Investigational

Early Phase 1

75614-87-8, 51-45-6

774

Synonyms:

.beta.-Imidazolyl-4-ethylamine

[3H]histamine

1avn

1H-Imidazole-4-ethanamine

1H-Imidazole-5-ethanamine

1qft

2-(1H-imidazol-4-yl)ethan-1-amine

2-(1H-Imidazol-4-yl)ethanamine

2-(1H-Imidazol-4-yl)ethylamine

2-(1H-imidazol-5-yl)ethanamine

2-(1H-Imidazol-5-yl)ethanamine

2-(1H-Imidazol-5-yl)ethylamine

2-(3H-Imidazol-4-yl)-ethylamine

2-(4-Imidazolyl)ethanamine

2-(4-imidazolyl)ethylamine

2-(4-Imidazolyl)ethylamine

2-[4-Imidazolyl]ethylamine

2-Imidazol-4-ylethylamine

2-Imidazol-4-yl-ethylamine

4-(2-Aminoethyl)-1H-imidazole

4-(2-Aminoethyl)imidazole

4-imidazoleethylamine

4-Imidazoleethylamine

51-45-6

53290_FLUKA

5-imidazoleethylamine

5-Imidazoleethylamine

64422-25-9

924364-91-0

AC-13185

AC1L19ZT

AC1Q54BV

AC1Q54BW

AKOS000274386

ALBB-005968

BCBcMAP01_000250

beta-aminoethylglyoxaline

beta-Aminoethylglyoxaline

beta-aminoethylimidazole

beta-Aminoethylimidazole

beta-aminothethylglyoxaline

beta-Aminothethylglyoxaline

beta-Imidazolyl-4-ethylamine

b-Imidazolyl-4-ethylamine

Bio1_000487

Bio1_000976

Bio1_001465

Bio2_000389

Bio2_000869

bmse000744

BSPBio_001117

BSPBio_002124

C00388

CCRIS 6535

Ceplene

CHEBI:18295

CHEMBL90

CID774

D08040

Dihydrochloride, histamine

DivK1c_000308

EINECS 200-100-6

Eramin

Ergamine

Ergotidine

F411C768-A159-4FC0-A195-291A08BB03AA

Free histamine

H7125_SIGMA

histamine

Histamine (DCF)

Histamine [USAN]

Histamine Base

Histamine dihydrochloride

Histamine hydrochloride

Histamine, Free Base

Histaminum

Histaminum (TN)

HMS1362G19

HMS1792G19

HMS1990G19

HSDB 3338

HSM

Hydrochloride, histamine

IDI1_000308

IDI1_002144

Imidazole-4-ethylamine

Istamina

Istamina [Italian]

KBio1_000308

KBio2_000457

KBio2_001325

KBio2_003025

KBio2_003893

KBio2_005593

KBio2_006461

KBio3_000853

KBio3_000854

KBio3_001344

KBioGR_000457

KBioGR_001580

KBioSS_000457

KBioSS_001325

L000292

L-Histamin base

L-histamine

L-Histamine

Lopac0_000595

Lopac-H-7250

LS-75835

MLS000069447

MolPort-001-785-597

MolPort-002-042-264

NCGC00015513-01

NCGC00015513-08

NCGC00093371-02

NCGC00093371-03

NCGC00093371-04

NCGC00093371-05

nchembio.87-comp54

nchembio714-comp1

NINDS_000308

NSC 33792

NSC33792

Peremin

SDCCGMLS-0066601.P001

SMP1_000151

SMR000059091

SPBio_000729

Spectrum_000845

Spectrum2_000665

Spectrum3_000452

Spectrum4_000960

Spectrum5_000796

ST073926

STK346752

STOCK5S-55669

Theramine

UNII-820484N8I3

WLN: T5M CNJ D2Z

ZERO/004089

3

Zopiclone

Approved

Early Phase 1

43200-80-2

5735

Synonyms:

(+-)-zopiclone

(+-)-Zopiclone

(±)-zopiclone

[6-(5-chloropyridin-2-yl)-5-oxo-7H-pyrrolo[3,4-b]pyrazin-7-yl] 4-methylpiperazine-1-carboxylate

138680-07-6

1-Piperazinecarboxylic acid, 4-methyl-, 6-(5-chloro-2-pyridinyl)-6,7-dihydro-7-oxo-5H-pyrrolo(3,4-b)pyrazin-5-yl ester

1-Piperazinecarboxylic acid, 4-methyl-, 6-(5-chloro-2-pyridinyl)-6,7-dihydro-7-oxo-5H-pyrrolo[3,4-b]pyrazin-5-yl ester

27267 R.P

27267 R.P.

43200-80-2

4-Methyl-1-piperazinecarboxylic acid 6-(5-chloro-2-pyridinyl)-6,7-dihydro-7-oxo-5H-pyrrolo[3,4-b]pyrazin-5-yl ester

4-Methyl-1-piperazinecarboxylic acid ester with 6-(5-chloro-2-pyridyl)-6,7-dihydro-7-hydroxy-5H-pyrrolo(3,4-b)pyrazin-5-one

6-(5-chloro-2-Pyridinyl)-7-oxo-6,7-dihydro-5H-pyrrolo[3,4-b]pyrazin-5-yl 4-methyl-1-piperazinecarboxylate

6-(5-Chloro-2-pyridinyl)-7-oxo-6,7-dihydro-5H-pyrrolo[3,4-b]pyrazin-5-yl 4-methyl-1-piperazinecarboxylate

6-(5-chloro-2-Pyridinyl)-7-oxo-6,7-dihydro-5H-pyrrolo[3,4-b]pyrazin-5-yl 4-methyl-1-piperazinecarboxylic acid

6-(5-chloro-2-pyridyl)-6,7-dihydro- 7-oxo-5H-pyrrolo(3,4-b)pyrazin-5-yl 4-methyl-1- piperazinecarboxylate

6-(5-chloro-2-Pyridyl)-6,7-dihydro- 7-oxo-5H-pyrrolo(3,4-b)pyrazin-5-yl 4-methyl-1- piperazinecarboxylate

6-(5-chloropyrid-2-yl)-5-(4-methylpiperazin-1-yl)carbonyloxy-7-oxo-6,7-dihydro-5H-pyrrolo[3,4-b]pyrazine

6-(5-chloropyridin-2-yl)-7-oxo-6,7-dihydro-5H-pyrrolo[3,4-b]pyrazin-5-yl 4-methylpiperazine-1-carboxylate

AbZ brand of zopiclone

AC1L1L0T

Aliud brand of zopiclone

Alpharma brand of zopiclone

Amoban

Amoban (TN)

Amovane

Aventis brand of zopiclone

Aventis Pharma brand of zopiclone

Azupharma brand of zopiclone

betapharm brand of zopiclone

Bio-0528

Biomol-NT_000284

BPBio1_001146

BRD-A34309505-001-08-5

BRN 0768704

C17H17ClN6O3

C515050

CHEBI:32315

CHEBI:324263

CHEMBL135400

Ciclum brand of zopiclone

CID5735

Clonmel brand of zopiclone

ct-Arzneimittel brand of zopiclone

D01372

DB01198

Dolorgeit brand of zopiclone

EINECS 256-138-9

EU-0101270

Gerard brand of zopiclone

Hexal brand of zopiclone

Hormosan brand of zopiclone

Imovance

Imovane

Italfarmaco brand of zopiclone

Limovan

Lopac0_001270

LS-110937

Merck dura brand of zopiclone

MLS000028547

MLS000083579

MLS001201837

MLS001304058

MolPort-002-507-850

NCGC00024993-03

NCGC00024993-04

nchembio747-comp16

neuraxpharm brand of zopiclone

Norton brand of zopiclone

Novo-zopiclone

Nu-Pharm brand of zopiclone

Nu-zopiclone

Nu-Zopiclone

Optidorm

Opus brand of zopiclone

Pinewood brand of zopiclone

Ran-zopiclone

Ratiopharm brand of zopiclone

ratio-Zopiclone

Rhodiapharm brand of zopiclone

Rhone-Poulenc Rorer brand of zopiclone

Rhovane

RP 27 267

RP 27267

RP-27267

S1446_Selleck

Siaten

SMR000048685

Somnosan

Sopivan

Stadapharm brand of zopiclone

STK599439

TAD brand of zopiclone

Temmler brand of zopiclone

Teva brand of zopiclone

UNII-03A5ORL08Q

Ximovan

Z 4900

Z4900_SIGMA

Zileze

Zimoclone

Zimovane

Zop

Zopicalm

Zopicalma

zopiclodura

Zopiclodura

Zopiclon abz

Zopiclon AbZ

Zopiclon al

Zopiclon AL

Zopiclon azu

Zopiclon AZU

Zopiclon beta

Zopiclon stada

Zopiclon Stada

Zopiclon tad

Zopiclon TAD

zopiclon von ct

Zopiclon von CT

Zopiclona

Zopiclona [INN-Spanish]

zopiclone

Zopiclone

Zopiclone (JAN/INN)

Zopiclone (TN)

Zopiclone [BAN:INN:JAN]

Zopiclone, Imovane, Zimovane, Lunesta

Zopiclon-neuraxpharm

Zopiclon-ratiopharm

Zopiclon-teva

Zopiclon-TEVA

Zopiclonum

Zopiclonum [INN-Latin]

Zopi-puren

Zopi-Puren

Zopitan

Zorclone

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

Synonyms:

1H-Imidazole-4-ethanamine, phosphate (1:2)

2-Imidazol-4-ylethylamine orthophosphoric acid (1:2)

4-(2-Aminoethyl)imidazole bis(dihydrogen phosphate)

4-(2-Aminoethyl)imidazole di-acid phosphate

4-2(2-Aminoethyl)Imidazole-Di-Acid Phosphate

51-74-1

53623-99-7

74-56-6

AC1L23E4

CID65513

D04445

DB00667

EINECS 200-118-4

H0147

Histamine acid phosphate

Histamine biphosphate

Histamine dihydrogen phosphate

Histamine diphosphate

Histamine phosphate (1:2)

Histamine phosphate (TN)

Histamine phosphate (USP)

Histamine phosphate [USP]

Histamine positive

LS-78569

UNII-QWB37T4WZZ

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

Sources

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

Sources

Anatomical Context for Diamond-Blackfan Anemia 16

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

⁴¹

Bone, Bone Marrow

Sources

Publications for Diamond-Blackfan Anemia 16

Sources

Genes for Diamond-Blackfan Anemia 16

Genes related to Diamond-Blackfan Anemia 16 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	RPL27	Ribosomal Protein L27	Protein Coding	1077.93	Molecular basis known ⁵⁷ Pathogenic ⁶ Genetic Tests ²⁹ Unconfirmed association ⁵⁷ GeneCards inferred via : Disorders Variants (show sections)	25424902

Sources

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

Sources

Expression for Diamond-Blackfan Anemia 16

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

Sources

Pathways for Diamond-Blackfan Anemia 16

Sources

GO Terms for Diamond-Blackfan Anemia 16

Sources

Sources for Diamond-Blackfan Anemia 16

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ ExPASy

¹⁸ FDA Approved Drugs

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia