MCID: DGT002
MIFTS: 21

Digital Clubbing, Isolated Congenital malady

Categories: Genetic diseases, Bone diseases, Skin diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Digital Clubbing, Isolated Congenital

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Aliases & Descriptions for Digital Clubbing, Isolated Congenital:

Name: Digital Clubbing, Isolated Congenital 49 11
Isolated Congenital Digital Clubbing 22 51 67 24
Isolated Congenital Nail Clubbing 51 67
Hereditary Acropachy 22 67
 
Isolated Congenital Acropachy 51
Clubbing of Digits 67
Icnc 67

Characteristics:

Orphanet epidemiological data:

51
isolated congenital digital clubbing:
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Infancy,Neonatal

HPO:

61
digital clubbing, isolated congenital:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 119900
Orphanet51 217059
ICD10 via Orphanet28 Q68.1
MedGen34 C1861514
MeSH36 D009260

Summaries for Digital Clubbing, Isolated Congenital

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UniProtKB/Swiss-Prot:67 Isolated congenital nail clubbing: A rare genodermatosis characterized by enlargement of the nail plate and terminal segments of the fingers and toes, resulting from proliferation of the connective tissues between the nail matrix and the distal phalanx. It is usually symmetrical and bilateral (in some cases unilateral). In nail clubbing usually the distal end of the nail matrix is relatively high compared to the proximal end, while the nail plate is complete but its dimensions and diameter more or less vary in comparison to normal. There may be different fingers and toes involved to varying degrees. Some fingers or toes are spared, but the thumbs are almost always involved.

MalaCards based summary: Digital Clubbing, Isolated Congenital, also known as isolated congenital digital clubbing, is related to basal cell carcinoma, and has symptoms including clubbing An important gene associated with Digital Clubbing, Isolated Congenital is HPGD (Hydroxyprostaglandin Dehydrogenase 15-(NAD)). Affiliated tissues include bone and skin.

OMIM:49 Digital clubbing is characterized by enlargement of the nail plate and terminal segments of the fingers and toes,... (119900) more...

Related Diseases for Digital Clubbing, Isolated Congenital

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Diseases related to Digital Clubbing, Isolated Congenital via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1basal cell carcinoma10.3

Symptoms for Digital Clubbing, Isolated Congenital

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Symptoms by clinical synopsis from OMIM:

119900

Clinical features from OMIM:

119900

HPO human phenotypes related to Digital Clubbing, Isolated Congenital:

id Description Frequency HPO Source Accession
1 clubbing HP:0001217

Drugs & Therapeutics for Digital Clubbing, Isolated Congenital

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Drugs for Digital Clubbing, Isolated Congenital (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 22)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Carvedilolapproved, investigationalPhase 115372956-09-32585
Synonyms:
(+-)-1-(Carbazol-4-yloxy)-3-((2-(O-methoxyphenoxy)ethyl)amino)-2-propanol
(+-)-1-(Carbazol-4-yloxy)-3-((2-(o-methoxyphenoxy)ethyl)amino)-2-propanol
(+-)-1-Carbazol-4-yloxy)-3-((2-(o-methoxyphenoxy)ethyl)amino)-2-propanol
(+/-)-1-(Carbazol-4-yloxy)-3-[[2-(o-methoxyphenoxy)ethyl]amino]-2-propanol
1-(9H-Carbazol-4-yloxy)-3-[[2-(2-methoxyphenoxy)ethyl]amino]-2-propanol
1-(9H-carbazol-4-yloxy)-3-[(2-{[2-(methyloxy)phenyl]oxy}ethyl)amino]propan-2-ol
1-(9H-carbazol-4-yloxy)-3-[2-(2-methoxyphenoxy)ethylamino]propan-2-ol
1-(9H-carbazol-4-yloxy)-3-{[2-(2-methoxyphenoxy)ethyl]amino}propan-2-ol
107741-96-8
72956-09-3
AB1004830
AC-1641
AC1L1E0B
Artist
Artist (TN)
Atlana Pharma brand of carvedilol
BM 14190
BM-14-190
BM-14.190
BM-14190
BRD-A10977446-001-04-8
BRD-A10977446-045-01-1
Bio-0014
C043211
C06875
C2260
C24H26N2O4
CHEBI:3441
CHEMBL723
CID2585
CPD000449280
Carvedilol
Carvedilol (JAN/USAN/INN)
Carvedilol [USAN:INN:BAN:JAN]
Carvedilolum
Carvedilolum [Latin]
Coreg
Coreg (TN)
Coreg CR
Coropres
Coropress
D00255
DB01136
DQ 2466
DQ-2466
Dibloc
 
Dilatrend
EG-P042
Eucardic
GlaxoSmithKline brand of carvedilol
HMS2051N03
HMS2089B09
HMS2093E12
HSDB 7044
I06-0064
I06-1477
KBio2_002145
KBio2_004713
KBio2_007281
KBio3_002323
KBioGR_001252
KBioSS_002145
Kredex
L001243
LS-121875
Lakeside brand of carvedilol
MLS000758299
MLS000759508
MLS001424092
MolPort-003-666-814
NCGC00167832-01
NCGC00167832-02
NCGC00167832-03
Querto
Roche brand of carvedilol
SAM001246736
SAM001247021
SK&F-105517
SKF 105517
SMR000449280
SPBio_001885
STK621453
Spectrum2_001673
Spectrum3_001182
Spectrum4_000636
Spectrum5_001436
Spectrum_001665
TL8005080
UNII-0K47UL67F2
carvedilol
carvedilol, (+-)-isomer
carvedilol, (R)-isomer
carvedilol, (S)-isomer
carvedilol, 14C-labeled
2
CaptoprilapprovedPhase 12962571-86-244093
Synonyms:
(2S)-1-(3-Mercapto-2-methylpropionyl)-L-proline
(2S)-1-[(2S)-2-Methyl-3-sulfanylpropanoyl]pyrrolidine-2-carboxylic acid
(2S)-1-[(2S)-2-methyl-3-sulfanylpropanoyl]pyrrolidine-2-carboxylic acid
(S)-1-(3-Mercapto-2-methyl-1-oxo-propyl)-L-proline
(S)-1-(3-Mercapto-2-methyl-1-oxopropyl)-L-proline
1-((2S)-3-Mercapto-2-methylpropionyl)-L-proline
1-(3-Mercapto-2-methyl-1-oxopropyl)-L-proline
1-(D-3-Mercapto-2-methyl-1-oxopropyl)-L-proline (S,S)
1-[(2S)-2-methyl-3-sulfanylpropanoyl]-L-proline
1j37
3-Mercapto-2-methylpropionyl-proline
62571-86-2
AC-12047
AC1L2B4L
AC1Q29GZ
AC1Q5R48
Acediur
Aceplus
Acepress
Acepril
Alopresin
Apopril
Apopril (TN)
Asisten
BB_NC-2104
BIM-0050290.0001
BPBio1_000063
BRD-K54529596-001-04-0
BSPBio_000057
BSPBio_002976
C 4042
C4042_SIAL
C4042_SIGMA
C8856_SIAL
C9H15NO3S
CHEBI:3380
CHEMBL1560
CHEMBL82
CID44093
CP
CPD0-2067
CPD000059061
Capoten
Capoten (TN)
Captolane
Captopril
Captopril (JP15/USP/INN)
Captopril [USAN:INN:BAN:JAN]
Captoprilum
Captoprilum [INN-Latin]
Captopryl
Captoril
Captril
Cesplon
D-2-Methyl-3-mercaptopropanoyl-L-proline
D-3-Mercapto-2-methylpropanoyl-L-proline
D-3-Mercapto-2-methylpropionylproline
D00251
DB01197
Dilabar
DivK1c_000208
EINECS 263-607-1
EU-0100302
FT-0082749
Garranil
Garranil (discontinued)
HMS1921C12
 
HMS2089P19
HMS2092I12
HMS500K10
HSDB 6527
Hipertil
Hypertil
IDI1_000208
Isopresol
KBio1_000208
KBio2_001168
KBio2_003736
KBio2_006304
KBio3_002196
KBioGR_001321
KBioSS_001168
L-Captopril
LS-137465
Lopac-C-4042
Lopac0_000302
Lopirin
Lopirin [Switzerland]
Lopril
MCO
MLS000069484
MLS001076488
MolPort-001-794-639
N-[(S)-3-Mercapto-2-methylpropionyl]-L-proline
NCGC00015235-01
NCGC00015235-02
NCGC00023654-03
NCGC00023654-04
NCGC00023654-05
NCGC00023654-06
NCGC00023654-07
NCGC00023654-08
NCGC00023654-09
NCGC00023654-10
NINDS_000208
Prestwick3_000019
Prestwick_103
SA 333
SAM002564201
SMP1_000056
SMR000059061
SPBio_001022
SPECTRUM1500682
SQ 14,225
SQ 14225
SQ-14,225
SQ-14,534
SQ-14225
SQ-14534
ST079562
STK802012
Spectrum2_001211
Spectrum3_001388
Spectrum4_000811
Spectrum5_001587
Spectrum_000688
Tenosbon
Tensiomin
Tensobon
Tensoprel
UNII-9G64RSX1XD
UPCMLD-DP003
UPCMLD-DP003:001
X8Z
[2S]-1-[3-Mercapto-2-methylpropionyl]-L-proline
captopril
3
SpironolactoneapprovedPhase 11591952-01-7, 52-01-75833
Synonyms:
4-18-00-01601 (Beilstein Handbook Reference)
4-Pregnen-21-oic acid-17alpha-ol-3-one-7alpha-thiol gamma-lactone 7-acetate
496916-40-6
52-01-7
7-alpha-Acetylthio-3-oxo-17-alpha-pregn-4-ene-21,17-beta-carbolactone
7alpha-(acetylsulfanyl)-3-oxo-17alpha-pregn-4-ene-21,17-carbolactone
AB00513806
AC-4214
AC1L1L8Q
Abbolactone
Acelat
Aldace
Aldactazide
Aldactide
Aldactone
Aldactone (TN)
Aldactone A
Alderon
Aldopur
Almatol
Alphapharm Brand of Spironolactone
Alpharma Brand of Spironolactone
Alter Brand of Spironolactone
Altex
Aquareduct
Ashbourne Brand of Spironolactone
Azupharma Brand of Spironolactone
BIDD:PXR0071
BPBio1_000194
BRD-K90027355-001-03-4
BRN 0057767
BSPBio_000176
C07310
C24H32O4S
CHEBI:428201
CHEBI:45692
CHEBI:9241
CHEMBL1393
CID5833
CPD000471892
Cardel Brand of Spironolactone
D00443
D013148
DB00421
Deverol
Dexo Brand of Spironolactone
Diatensec
Dira
Duraspiron
EINECS 200-133-6
Espironolactona
Espironolactona Alter
Espironolactona Mundogen
Espironolactona [INN-Spanish]
Euteberol
Flumach
Frumikal
Generosan Brand of Spironolactone
HMS1568I18
HMS2090N21
HSDB 3184
Hormosan Brand of Spironolactone
I06-1970
Jenapharm Brand of Spironolactone
Jenaspiron
LS-118614
LT00772287
Lacalmin
Lacdene
Laractone
MLS001074672
MLS001333253
MLS001333254
MLS002153245
MLS002207058
Mayoly-Spindler Brand of Spironolactone
Melarcon
Merck dura Brand of Spironolactone
Mundogen Brand of Spironolactone
NCGC00164397-01
 
NCGC00164397-02
NSC 150399
NSC150399
Nefurofan
Novo Spiroton
Novo-Spiroton
NovoSpiroton
Novopharm Brand of Spironolactone
Osyrol
Pfizer Brand of Spironolactone
Pharmafrid Brand of Spironolactone
Practon
Prestwick0_000128
Prestwick1_000128
Prestwick2_000128
Prestwick3_000128
Roche Brand of Spironolactone
S0260
S3378_SIGMA
SAM002264648
SC 9420
SC-9420
SC9420
SMR000471892
SNL
SPBio_002115
Sagisal
Searle Brand of Spironolactone
Sincomen
Spiractin
Spiresis
Spiretic
Spiridon
Spiro L.U.T.
Spiro(17H-cyclopenta(a)phenauthrene-17,2'-(3'H)-furan)
Spiro-Tablinen
Spiro[17H-cyclopenta[a]phenauthrene-17,2'-(3'H)-furan]
Spirobeta
Spiroctan
Spiroctanie
Spiroderm
Spirogamma
Spirolactone
Spirolakton
Spirolang
Spirolone
Spirone
Spirono Isis
Spirono-Isis
Spironocompren
Spironolactone
Spironolactone (JP15/USP/INN)
Spironolactone A
Spironolactone [BAN:INN:JAN]
Spironolactone [INN:BAN:JAN]
Spironolactonum
Spironolactonum [INN-Latin]
Spironolattone
Spironolattone [DCIT]
Spironone
Spirospare
Sprioderm
Supra-puren
Suracton
UNII-27O7W4T232
Uractone
Urusonin
Veroshpiron
Verospiron
Verospirone
Verospirone Opianin
WLN: L E5 B666 FX OV MUTJ A1 E1 KSV1 F-& CT5VOXTJ
Worwag Brand of Spironolactone
Xenalon
ZINC03861599
betapharm Brand of Spironolactone
ct Arzneimittel Brand of Spironolactone
ct-Arzneimittel Brand of Spironolactone
spiro von ct
spironolactone
spironolattone
von ct, spiro
4HormonesPhase 111748
5Mineralocorticoid Receptor AntagonistsPhase 1284
6Hormones, Hormone Substitutes, and Hormone AntagonistsPhase 19988
7Natriuretic AgentsPhase 11403
8Vasodilator AgentsPhase 12926
9Protease InhibitorsPhase 14558
10Neurotransmitter AgentsPhase 114795
11Hormone AntagonistsPhase 110002
12MineralocorticoidsPhase 1301
13Diuretics, Potassium SparingPhase 11445
14Adrenergic AntagonistsPhase 11253
15Adrenergic alpha-AntagonistsPhase 1586
16Adrenergic alpha-1 Receptor AntagonistsPhase 1405
17Adrenergic beta-AntagonistsPhase 1979
18Angiotensin-Converting Enzyme InhibitorsPhase 1634
19Adrenergic AgentsPhase 14204
20diureticsPhase 11194
21Antihypertensive AgentsPhase 13618
22HIV Protease InhibitorsPhase 14558

Interventional clinical trials:

idNameStatusNCT IDPhase
1Spironolactone Combined With Captopril and Carvedilol for the Treatment of Pulmonary Arterial HypertensionCompletedNCT00240656Phase 1

Search NIH Clinical Center for Digital Clubbing, Isolated Congenital

Genetic Tests for Digital Clubbing, Isolated Congenital

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Genetic tests related to Digital Clubbing, Isolated Congenital:

id Genetic test Affiliating Genes
1 Isolated Congenital Digital Clubbing22 HPGD

Anatomical Context for Digital Clubbing, Isolated Congenital

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MalaCards organs/tissues related to Digital Clubbing, Isolated Congenital:

33
Bone, Skin

Animal Models for Digital Clubbing, Isolated Congenital or affiliated genes

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Publications for Digital Clubbing, Isolated Congenital

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Variations for Digital Clubbing, Isolated Congenital

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UniProtKB/Swiss-Prot genetic disease variations for Digital Clubbing, Isolated Congenital:

67
id Symbol AA change Variation ID SNP ID
1HPGDp.Ser193ProVAR_060792

Clinvar genetic disease variations for Digital Clubbing, Isolated Congenital:

5
id Gene Variation Type Significance SNP ID Assembly Location
1HPGDNM_000860.5(HPGD): c.577T> C (p.Ser193Pro)single nucleotide variantPathogenicrs121434481GRCh37Chr 4, 175414387: 175414387

Expression for genes affiliated with Digital Clubbing, Isolated Congenital

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Search GEO for disease gene expression data for Digital Clubbing, Isolated Congenital.

Pathways for genes affiliated with Digital Clubbing, Isolated Congenital

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GO Terms for genes affiliated with Digital Clubbing, Isolated Congenital

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Sources for Digital Clubbing, Isolated Congenital

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet