MCID: DGT002
MIFTS: 23

Digital Clubbing, Isolated Congenital malady

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

Aliases & Classifications for Digital Clubbing, Isolated Congenital

About this section

Aliases & Descriptions for Digital Clubbing, Isolated Congenital:

Name: Digital Clubbing, Isolated Congenital 52 12
Isolated Congenital Digital Clubbing 24 54 70 27
Isolated Congenital Nail Clubbing 54 70
Hereditary Acropachy 24 70
 
Isolated Congenital Acropachy 54
Clubbing of Digits 70
Icnc 70

Characteristics:

Orphanet epidemiological data:

54
isolated congenital digital clubbing:
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Infancy,Neonatal

HPO:

64
digital clubbing, isolated congenital:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM52 119900
Orphanet54 ORPHA217059
ICD10 via Orphanet31 Q68.1
MedGen37 C1861514
MeSH39 D009260

Summaries for Digital Clubbing, Isolated Congenital

About this section
UniProtKB/Swiss-Prot:70 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, is also known as isolated congenital digital clubbing, and has symptoms including clubbing An important gene associated with Digital Clubbing, Isolated Congenital is HPGD (Hydroxyprostaglandin Dehydrogenase 15-(NAD)). Affiliated tissues include skin and bone.

OMIM:52 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

About this section

Symptoms & Phenotypes for Digital Clubbing, Isolated Congenital

About this section

Symptoms by clinical synopsis from OMIM:

119900

Clinical features from OMIM:

119900

Human phenotypes related to Digital Clubbing, Isolated Congenital:

 64
id Description HPO Frequency HPO Source Accession
1 clubbing64 HP:0001217

Drugs & Therapeutics for Digital Clubbing, Isolated Congenital

About this section

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

(show all 22)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Carvedilolapproved, investigationalPhase 116372956-09-32585
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 13262571-86-244093
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 (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 12221952-01-7, 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 113979
5Mineralocorticoid Receptor AntagonistsPhase 1333
6Hormones, Hormone Substitutes, and Hormone AntagonistsPhase 112767
7Natriuretic AgentsPhase 11645
8Vasodilator AgentsPhase 13438
9
protease inhibitorsPhase 15320
Synonyms:
 
protease inhibitors
10Neurotransmitter AgentsPhase 117734
11Hormone AntagonistsPhase 112778
12MineralocorticoidsPhase 1352
13Diuretics, Potassium SparingPhase 11827
14Adrenergic AntagonistsPhase 11535
15Adrenergic alpha-AntagonistsPhase 1727
16Adrenergic alpha-1 Receptor AntagonistsPhase 1470
17Adrenergic beta-AntagonistsPhase 11154
18Angiotensin-Converting Enzyme InhibitorsPhase 1711
19Adrenergic AgentsPhase 15140
20diureticsPhase 11372
21Antihypertensive AgentsPhase 14095
22HIV Protease InhibitorsPhase 15319

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

About this section

Genetic tests related to Digital Clubbing, Isolated Congenital:

id Genetic test Affiliating Genes
1 Digital Clubbing, Isolated Congenital27
2 Isolated Congenital Digital Clubbing24 HPGD

Anatomical Context for Digital Clubbing, Isolated Congenital

About this section

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

36
Skin, Bone

Publications for Digital Clubbing, Isolated Congenital

About this section

Variations for Digital Clubbing, Isolated Congenital

About this section

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

70
id Symbol AA change Variation ID SNP ID
1HPGDp.Ser193ProVAR_060792rs121434481

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)SNVPathogenicrs121434481GRCh37Chr 4, 175414387: 175414387

Expression for genes affiliated with Digital Clubbing, Isolated Congenital

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

Pathways for genes affiliated with Digital Clubbing, Isolated Congenital

About this section

GO Terms for genes affiliated with Digital Clubbing, Isolated Congenital

About this section

Sources for Digital Clubbing, Isolated Congenital

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet