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 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:

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

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁸ 617408

MeSH ⁴⁵ D029503

MedGen ⁴³ C4479424 CN241838

SNOMED-CT via HPO ⁷⁰ 165397008 253366007 263681008 more

Sources

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 Histamine and Doxepin have been mentioned in the context of this disorder. Affiliated tissues include brain, bone and bone marrow, and related phenotypes are anemia and atrial septal defect

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
Diamond-Blackfan Anemia 18	Diamond-Blackfan Anemia 19
Diamond-Blackfan Anemia 20

Sources

Symptoms & Phenotypes for Diamond-Blackfan Anemia 16

Human phenotypes related to Diamond-Blackfan Anemia 16:

³³

#	Description	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

Sources

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

Histamine

Approved, Investigational

Early Phase 1

51-45-6

774

Synonyms:

1H-Imidazole-4-ethanamine

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

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

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

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

2-(4-Imidazolyl)ethanamine

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

5-imidazoleethylamine

5-Imidazoleethylamine

beta-aminoethylglyoxaline

beta-Aminoethylglyoxaline

beta-aminoethylimidazole

beta-Aminoethylimidazole

beta-Aminothethylglyoxaline

beta-Imidazolyl-4-ethylamine

b-Imidazolyl-4-ethylamine

Ceplene

Dihydrochloride, histamine

Eramin

Ergamine

Ergotidine

Free histamine

Histamine dihydrochloride

Histamine hydrochloride

HSM

Hydrochloride, histamine

L-Histamin base

L-Histamine

Peremin

Theramine

2

Doxepin

Approved, Investigational

Early Phase 1

1668-19-5

667468 667477

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

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

Promethazine

Approved, Investigational

Early Phase 1

60-87-7

4927

Synonyms:

(2-dimethylamino-2-methyl)ethyl-N-dibenzoparathiazine

(2-dimethylamino-2-Methyl)ethyl-N-dibenzoparathiazine

(2-Dimethylamino-2-methyl)ethyl-N-dibenzoparathiazine

(Dimethylamino-2-propyl-10-phenothiazine hydrochloride

10-(2-(Dimethylamino)-2-methylethyl)phenothiazine

10-(2-(Dimethylamino)propyl)phenothiazine

10-(2-Dimethylaminopropyl)phenothiazine

10-[2-(dimethylamino)propyl]phenothiazine

10-[2-(dimethylamino)Propyl]phenothiazine

10-[2-(Dimethylamino)propyl]phenothiazine

10H-Phenothiazine-10-ethanamine, N,N,alpha-trimethyl- (9CI)

10H-Phenothiazine-10-ethanamine, N,N,alpha-trimethyl-, radical ion(1+)

3277 RP

3389 R.p.

38878-40-9

4182 R.p.

4-27-00-01253 (Beilstein Handbook Reference)

60-87-7

73745-50-3

A-91033

AB00053535

AC-15939

AC1L1J92

Antiallersin

Aprobit

Atosil

Avomine

BPBio1_000744

BRN 0088554

BSPBio_000676

BSPBio_002777

C07404

Camergan

CCRIS 7056

CHEBI:8461

CHEMBL643

CID4927

D00494

DB01069

Dimapp

Dimethylamino-isopropyl-phenthiazin

Dimethylamino-isopropyl-phenthiazin [German]

Diphergan

Diprazin

Diprazine

Diprozin

DivK1c_000005

EINECS 200-489-2

Fargan

Fenazil

Fenetazina

Fenetazine

Genphen

Hiberna

Histargan

HMS2089E08

HSDB 3173

Hydrochloride, promethazine

IDI1_000005

Iergigan

InChI=1/C17H20N2S/c1-13(18(2)3)12-19-14-8-4-6-10-16(14)20-17-11-7-5-9-15(17)19/h4-11,13H,12H2,1-3H3

Isophenergan

Isopromethazine

KBio1_000005

KBio2_001348

KBio2_003916

KBio2_006484

KBio3_001997

KBioGR_001697

KBioSS_001348

L000495

Lercigan

Lergigan

Lilly 01516

Lilly 1516

Lopac0_000899

LS-264

Metaryl

MolPort-001-783-684

N-(2'-dimethylamino-2'-methyl)ethylphenothiazine

N-(2'-dimethylamino-2'-Methyl)ethylphenothiazine

N-(2'-Dimethylamino-2'-methyl)ethylphenothiazine

N,N,alpha-trimethyl-10H-phenothiazine-10-ethanamine

N,N,alpha-Trimethyl-10H-phenothiazine-10-ethanamine

N,N,a-Trimethyl-10H-phenothiazine-10-ethanamine

N,N,α-trimethyl-10H-phenothiazine-10-ethanamine

N,N-dimethyl-1-(10H-phenothiazin-10-yl)propan-2-amine

N,N-dimethyl-1-phenothiazin-10-ylpropan-2-amine

N,N-dimethyl-1-phenothiazin-10-ylpropan-2-amine hydrochloride

NCGC00015817-10

NCGC00089735-02

NCGC00089735-03

NCI60_001878

NCI-C60673

N-Dimethylamino-2-methylethyl thiodiphenylamine

NINDS_000005

NSC 30321

NSC30321

Oprea1_758749

Pelpica

Phargan

Phenargan

Phenergan

Phenerzine

Phenoject-50

Phensedyl

Pilothia

Pilpophen

Pipolfen

Pipolphen

Pipolphene

Prestwick0_000888

Prestwick1_000888

Prestwick2_000888

Prestwick3_000888

Pro-50

Proazaimine

Proazamine

Procit

Promacot

Promazinamide

Promergan

Promesan

Promet

Prometasin

Prometazin

Prometazina

Prometazina [INN-Spanish]

Prometazine

Prometh

Promethacon

Promethaine

Promethazin

promethazine

Promethazine

Promethazine (JAN/INN)

PROMETHAZINE (SEE ALSO PROMETHAZINE HYDROCHLORIDE 58-33-3)

Promethazine [INN:BAN]

Promethazine hydrochloride

PromethazineHcl

Promethazinum

Promethazinum [INN-Latin]

Promethegan

Promethiazine

Promezathine

Prorex

Protazine

Prothazin

Prothazine

Provigan

Pyrethia

Pyrethiazine

Remsed

Romergan

RP 3277

Rumergan

SKF 1498

SPBio_000799

SPBio_002895

Spectrum_000868

Spectrum2_000840

Spectrum3_001019

Spectrum4_001149

Spectrum5_000977

Tanidil

Thiergan

UNII-FF28EJQ494

Valergine

Vallergine

WLN: T C666 BN ISJ B1Y1&N1&1

WY 509

Zipan-25

5

Diphenhydramine

Approved, Investigational

Early Phase 1

147-24-0, 58-73-1

3100

Synonyms:

147-24-0

147-24-0 (HYDROCHLORIDE)

2-(benzhydryloxy)-N,N-dimethylethylamine

2-(Benzhydryloxy)-N,N-dimethylethylamine

2-(Benzhydryloxy)-N,N-dimethylethylamine, hydrochloride

2-(diphenylmethoxy)-N,N-dimethylethanamine

2-(Diphenylmethoxy)-N,N-dimethylethylamine

2-[(diphenylmethyl)oxy]-N,N-dimethylethanamine

2-benzhydryloxyethyl-N,N-dimethylammonium

2-benzhydryloxy-N,N-dimethylethanamine

2-diphenylmethoxy-N,N-demthylethanamine

2-Diphenylmethoxy-N,N-demthylethanamine

2-Diphenylmethoxy-N,N-dimethylethylamine

2PM

58-73-1

88637-37-0 (citrate (1:1))

a-(2-Dimethylaminoethoxy)diphenylmethane

AB00053460

AC-13704

AC1L1F65

AKOS003658554

Aleryl

Alledryl

Allerdryl

Allergan

Allergan B

Allergeval

Allergical

Allergina

Allergival

Allermax Caplets

Aller-Med

alpha-(2-Dimethylaminoethoxy)diphenylmethane

Amidryl

Antistominum

Antitussive

Antomin

Automin

Bagodryl

Banophen

Banophen Caplets

Baramine

b-Dimethylaminoethanol diphenylmethyl ether

b-Dimethylaminoethyl benzhydryl ether

Beldin

Belix

Bena

Benachlor

Benadrin

Benadryl

Benadryl (hydrochloride)

Benadryl Allergy

BENADRYL HCl

Ben-allergin

Benapon

Bendylate

Benhydramin

Benodin

Benodine

Benylan

Benylin

Benzantin

Benzantine

Benzhydramine

Benzhydraminum

Benzhydril

Benzhydroamina

Benzhydryl

beta-Dimethylamino-aethyl-benzhydryl-aether

beta-Dimethylamino-aethyl-benzhydryl-aether [German]

beta-Dimethylaminoethanol diphenylmethyl ether

beta-dimethylaminoethyl benzhydryl ether

beta-Dimethylaminoethyl benzhydryl ether

beta-Dimethylaminoethylbenzhydrylether

Betramin

BIDD:GT0152

BPBio1_000275

BRD-K47278471-003-05-7

BRN 1914136

BSPBio_000249

BSPBio_002219

CAS-147-24-0

CCRIS 1959

CHEBI:127629

CHEBI:4636

CHEMBL657

CID3100

Citrate, diphenhydramine

Compoz

CPD-10890

D00300

Dabylen

DB01075

DB06975

Debendrin

Dermistina

Dermodrin

Desentol

Diabenyl

Diabylen

Dibendrin

Dibenil

Dibondrin

Difedryl

Difenhidramina

Difenhidramina [INN-Spanish]

Difenhydramin

Difenhydramine

Difenidramina

Difenidramina [Italian]

Dihidral

Dimedrol

Dimedrol base

Dimedrolum

Dimedryl

Dimehydrinate

Dimethylamine benzhydryl ester

Diphamine

Diphantine

Diphen

Diphen Cough

Diphenhist

Diphenhist Captabs

diphenhydramine

Diphenhydramine

Diphenhydramine (JP15/INN)

Diphenhydramine [INN:BAN:JAN]

Diphenhydramine Base

Diphenhydramine citrate

Diphenhydramine citrate (1:1)

Diphenhydramine HCl

Diphenhydramine hydrochloride

DIPHENHYDRAMINE, ANTISTOMINUM, BENZHYDRAMINE

Diphenhydraminum

Diphenhydraminum [INN-Latin]

Diphenylhydramin

Diphenylhydramine

DivK1c_000368

Dobacen

Dormarex 2

Dormin

Dryistan

Drylistan

Dylamon

EINECS 200-396-7

Etanautine

FAR 90X2

Genahist

Histaxin

HMS2089E06

HSDB 3066

Hyadrine

Hydramine

Hydrochloride, diphenhydramine

Hyrexin

I14-6749

Ibiodral

IDI1_000368

KBio1_000368

KBio2_001460

KBio2_004028

KBio2_006596

KBio3_001439

KBioGR_001099

KBioSS_001460

L000227

Lopac0_000377

Lopac-D-3630

LS-68208

Medidryl

Mephadryl

MLS002222276

MolPort-001-783-508

N-(2-(diphenylmethoxy)ethyl)-N,N-dimethylamine

N-(2-(Diphenylmethoxy)ethyl)-N,N-dimethylamine

N-(Benzhydryloksy-etylo)dwumetyloamina

N-(Benzhydryloksy-etylo)dwumetyloamina [Polish]

N,N-Dimethyl-2-(diphenylmethoxy)-ethylamine hydrochloride

N-[2-(BENZHYDRYLOXY)ETHYL]-N,N-DIMETHYLAMINE

Nausen

NCGC00015335-01

NCGC00015335-02

NCGC00015335-03

NCGC00015335-10

NCGC00024414-03

NCGC00024414-04

nchembio747-comp18

NCI60_002916

NCI60_022782

Nervine Nighttime Sleep-Aid

NINDS_000368

Novamina

NSC665800

Nytol Quickcaps

Nytol Quickgels

O-benzhydryldimethylaminoethanol

O-Benzhydryldimethylaminoethanol

Oprea1_254625

PM 255

Prestwick0_000065

Prestwick1_000065

Prestwick2_000065

Prestwick3_000065

Probedryl

Restamin

Restamin (TN)

Rigidil

S51

Siladryl

Silphen

Sleep-Eze D

Sleep-Eze D Extra Strength

SMR001307259

SPBio_000961

SPBio_002170

Spectrum_000980

Spectrum2_000961

Spectrum3_000400

Spectrum4_000520

Spectrum5_000915

STK103720

STOCK2S-94461

Syntedril

Syntodril

TL8003758

Twilite Caplets

UNII-8GTS82S83M

Unisom Sleepgels Maximum Strength

α-(2-dimethylaminoethoxy)diphenylmethane

β-dimethylaminoethanol diphenylmethyl ether

β-dimethylaminoethyl benzhydryl ether

6

Pharmaceutical Solutions

Not Applicable

7

Hypnotics and Sedatives

Early Phase 1

8

Histamine Antagonists

Early Phase 1

9

Antidepressive Agents, Tricyclic

Early Phase 1

10

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

11

Antidepressive Agents

Early Phase 1

12

Central Nervous System Depressants

Early Phase 1

13

Psychotropic Drugs

Early Phase 1

14

Neurotransmitter Agents

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

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 ³⁰	RPL27

Sources

Anatomical Context for Diamond-Blackfan Anemia 16

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

⁴²

Brain, 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	1077.75	Molecular basis known ⁵⁸ Pathogenic ⁶ Genetic Tests ³⁰ Unconfirmed association ⁵⁸ 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_000988.5(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

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 EFO

¹⁸ ExPASy

¹⁹ FDA Approved Drugs

²⁰ FMA

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ Genetics Home Reference

²⁷ GenomeRNAi

²⁸ GEO DataSets

²⁹ GO

³⁰ GTR

³¹ HGMD

³² HMDB

³³ HPO

³⁴ ICD10

³⁵ ICD10 via Orphanet

³⁶ ICD9CM

³⁷ IUPHAR

³⁸ KEGG

³⁹ LifeMap

⁴⁰ LncRNADisease

⁴¹ LOVD

⁴² MalaCards

⁴³ MedGen

⁴⁴ MedlinePlus

⁴⁵ MeSH

⁴⁶ MESH via Orphanet

⁴⁷ MGI

⁴⁸ miR2Disease

⁴⁹ NCBI Bookshelf

⁵⁰ NCI

⁵¹ NCIt

⁵² NDF-RT

⁵³ NIH Clinical Center

⁵⁴ NIH Rare Diseases

⁵⁵ NINDS

⁵⁶ Novoseek

⁵⁷ Novus Biologicals

⁵⁸ OMIM

⁵⁹ OMIM via Orphanet

⁶⁰ Orphanet

⁶¹ PathCards

⁶² PharmGKB

⁶³ PubMed

⁶⁴ PubMed Health

⁶⁵ QIAGEN

⁶⁶ R&D Systems

⁶⁷ Reactome

⁶⁸ Sino Biological

⁶⁹ SNOMED-CT

⁷⁰ SNOMED-CT via HPO

⁷¹ SNOMED-CT via Orphanet

⁷² TGDB

⁷³ Tocris

⁷⁴ UMLS

⁷⁵ UMLS via Orphanet

⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ Wikipedia

Diamond-Blackfan Anemia 16 (DBA16)

Aliases & Classifications for Diamond-Blackfan Anemia 16

MalaCards integrated aliases for Diamond-Blackfan Anemia 16:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Diamond-Blackfan Anemia 16

Related Diseases for Diamond-Blackfan Anemia 16

Diseases in the Diamond-Blackfan Anemia family:

Symptoms & Phenotypes for Diamond-Blackfan Anemia 16

Human phenotypes related to Diamond-Blackfan Anemia 16:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Drugs & Therapeutics for Diamond-Blackfan Anemia 16

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

Interventional clinical trials:

Genetic Tests for Diamond-Blackfan Anemia 16

Genetic tests related to Diamond-Blackfan Anemia 16:

Anatomical Context for Diamond-Blackfan Anemia 16

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

Publications for Diamond-Blackfan Anemia 16

Genes for Diamond-Blackfan Anemia 16

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

Variations for Diamond-Blackfan Anemia 16

ClinVar genetic disease variations for Diamond-Blackfan Anemia 16:

Expression for Diamond-Blackfan Anemia 16

Pathways for Diamond-Blackfan Anemia 16

GO Terms for Diamond-Blackfan Anemia 16

Sources for Diamond-Blackfan Anemia 16