ICNC
MCID: DGT002
MIFTS: 25

Digital Clubbing, Isolated Congenital (ICNC)

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

Aliases & Classifications for Digital Clubbing, Isolated Congenital

MalaCards integrated aliases for Digital Clubbing, Isolated Congenital:

Name: Digital Clubbing, Isolated Congenital 57 29 13 6 40
Isolated Congenital Nail Clubbing 59 75 37
Isolated Congenital Digital Clubbing 59 75
Clubbing of Digits 57 75
Isolated Congenital Acropachy 59
Acropachy, Hereditary 57
Hereditary Acropachy 75
Icnc 75

Characteristics:

Orphanet epidemiological data:

59
isolated congenital digital clubbing
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
digital clubbing, isolated congenital:
Inheritance autosomal dominant inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 119900
Orphanet 59 ORPHA217059
UMLS via Orphanet 74 C0345408
ICD10 via Orphanet 34 Q68.1
MeSH 44 D009260
KEGG 37 H01246
SNOMED-CT via HPO 69 263681008 258211005 367004

Summaries for Digital Clubbing, Isolated Congenital

UniProtKB/Swiss-Prot : 75 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 nail clubbing. An important gene associated with Digital Clubbing, Isolated Congenital is HPGD (15-Hydroxyprostaglandin Dehydrogenase). The drugs Captopril and Carvedilol have been mentioned in the context of this disorder. Affiliated tissues include skin and bone, and related phenotype is clubbing.

OMIM : 57 Digital clubbing is 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 (Myers and Farquhar, 2001). (119900)

Related Diseases for Digital Clubbing, Isolated Congenital

Symptoms & Phenotypes for Digital Clubbing, Isolated Congenital

Symptoms via clinical synopsis from OMIM:

57
Skeletal Hands:
digital clubbing
acropachy

Skin Nails Hair Nails:
incurved nails

Skeletal Feet:
digital clubbing (in some patients)


Clinical features from OMIM:

119900

Human phenotypes related to Digital Clubbing, Isolated Congenital:

32
# Description HPO Frequency HPO Source Accession
1 clubbing 32 HP:0001217

Drugs & Therapeutics for Digital Clubbing, Isolated Congenital

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

(show all 22)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Captopril Approved Phase 1 62571-86-2 44093
2
Carvedilol Approved, Investigational Phase 1 72956-09-3 2585
3
Spironolactone Approved Phase 1 1952-01-7, 52-01-7 5833
4 Adrenergic Agents Phase 1
5 Adrenergic alpha-1 Receptor Antagonists Phase 1
6 Adrenergic alpha-Antagonists Phase 1
7 Adrenergic Antagonists Phase 1
8 Adrenergic beta-Antagonists Phase 1
9 Angiotensin-Converting Enzyme Inhibitors Phase 1
10 Antihypertensive Agents Phase 1
11 diuretics Phase 1
12 Diuretics, Potassium Sparing Phase 1
13 HIV Protease Inhibitors Phase 1
14 Hormone Antagonists Phase 1
15 Hormones Phase 1
16 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 1
17 Mineralocorticoid Receptor Antagonists Phase 1
18 Mineralocorticoids Phase 1
19 Natriuretic Agents Phase 1
20 Neurotransmitter Agents Phase 1
21
protease inhibitors Phase 1
22 Vasodilator Agents Phase 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Spironolactone Combined With Captopril and Carvedilol for the Treatment of Pulmonary Arterial Hypertension Completed NCT00240656 Phase 1 spironolactone captopril carvedilol
2 Investigation of the Prevalence of Hepatopulmonary Syndrome in Cirrhosis Patients Caused by Hepatitis B in Western China Recruiting NCT03435406

Search NIH Clinical Center for Digital Clubbing, Isolated Congenital

Genetic Tests for Digital Clubbing, Isolated Congenital

Genetic tests related to Digital Clubbing, Isolated Congenital:

# Genetic test Affiliating Genes
1 Digital Clubbing, Isolated Congenital 29 HPGD

Anatomical Context for Digital Clubbing, Isolated Congenital

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

41
Skin, Bone

Publications for Digital Clubbing, Isolated Congenital

Articles related to Digital Clubbing, Isolated Congenital:

# Title Authors Year
1
Mutation in the HPGD gene encoding NAD+ dependent 15- hydroxyprostaglandin dehydrogenase underlies isolated congenital nail clubbing (ICNC). ( 18805827 )
2009

Variations for Digital Clubbing, Isolated Congenital

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

75
# Symbol AA change Variation ID SNP ID
1 HPGD p.Ser193Pro VAR_060792 rs121434481

ClinVar genetic disease variations for Digital Clubbing, Isolated Congenital:

6
(show top 50) (show all 96)
# Gene Variation Type Significance SNP ID Assembly Location
1 HPGD NM_000860.5(HPGD): c.577T> C (p.Ser193Pro) single nucleotide variant Pathogenic rs121434481 GRCh37 Chromosome 4, 175414387: 175414387
2 HPGD NM_000860.5(HPGD): c.577T> C (p.Ser193Pro) single nucleotide variant Pathogenic rs121434481 GRCh38 Chromosome 4, 174493236: 174493236
3 HPGD NM_000860.5(HPGD): c.*1726C> T single nucleotide variant Benign rs2612691 GRCh38 Chromosome 4, 174490230: 174490230
4 HPGD NM_000860.5(HPGD): c.*1726C> T single nucleotide variant Benign rs2612691 GRCh37 Chromosome 4, 175411381: 175411381
5 HPGD NM_000860.5(HPGD): c.*1618A> T single nucleotide variant Uncertain significance rs886059242 GRCh38 Chromosome 4, 174490338: 174490338
6 HPGD NM_000860.5(HPGD): c.*1618A> T single nucleotide variant Uncertain significance rs886059242 GRCh37 Chromosome 4, 175411489: 175411489
7 HPGD NM_000860.5(HPGD): c.*1584A> G single nucleotide variant Uncertain significance rs886059243 GRCh38 Chromosome 4, 174490372: 174490372
8 HPGD NM_000860.5(HPGD): c.*1584A> G single nucleotide variant Uncertain significance rs886059243 GRCh37 Chromosome 4, 175411523: 175411523
9 HPGD NM_000860.5(HPGD): c.*1203A> C single nucleotide variant Uncertain significance rs766485728 GRCh38 Chromosome 4, 174490753: 174490753
10 HPGD NM_000860.5(HPGD): c.*1203A> C single nucleotide variant Uncertain significance rs766485728 GRCh37 Chromosome 4, 175411904: 175411904
11 HPGD NM_000860.5(HPGD): c.*941C> T single nucleotide variant Uncertain significance rs886059247 GRCh38 Chromosome 4, 174491015: 174491015
12 HPGD NM_000860.5(HPGD): c.*941C> T single nucleotide variant Uncertain significance rs886059247 GRCh37 Chromosome 4, 175412166: 175412166
13 HPGD NM_000860.5(HPGD): c.*798delA deletion Uncertain significance rs530867889 GRCh38 Chromosome 4, 174491158: 174491158
14 HPGD NM_000860.5(HPGD): c.*798delA deletion Uncertain significance rs530867889 GRCh37 Chromosome 4, 175412309: 175412309
15 HPGD NM_000860.5(HPGD): c.*207G> A single nucleotide variant Uncertain significance rs181290362 GRCh38 Chromosome 4, 174491749: 174491749
16 HPGD NM_000860.5(HPGD): c.*207G> A single nucleotide variant Uncertain significance rs181290362 GRCh37 Chromosome 4, 175412900: 175412900
17 HPGD NM_000860.5(HPGD): c.*132G> A single nucleotide variant Likely benign rs2253170 GRCh38 Chromosome 4, 174491824: 174491824
18 HPGD NM_000860.5(HPGD): c.*132G> A single nucleotide variant Likely benign rs2253170 GRCh37 Chromosome 4, 175412975: 175412975
19 HPGD NM_000860.5(HPGD): c.*54A> T single nucleotide variant Uncertain significance rs886059253 GRCh38 Chromosome 4, 174491902: 174491902
20 HPGD NM_000860.5(HPGD): c.*54A> T single nucleotide variant Uncertain significance rs886059253 GRCh37 Chromosome 4, 175413053: 175413053
21 HPGD NM_000860.5(HPGD): c.680A> G (p.Asn227Ser) single nucleotide variant Uncertain significance rs117270501 GRCh38 Chromosome 4, 174492077: 174492077
22 HPGD NM_000860.5(HPGD): c.680A> G (p.Asn227Ser) single nucleotide variant Uncertain significance rs117270501 GRCh37 Chromosome 4, 175413228: 175413228
23 HPGD NM_000860.5(HPGD): c.489C> T (p.Arg163=) single nucleotide variant Likely benign rs17060544 GRCh38 Chromosome 4, 174495557: 174495557
24 HPGD NM_000860.5(HPGD): c.489C> T (p.Arg163=) single nucleotide variant Likely benign rs17060544 GRCh37 Chromosome 4, 175416708: 175416708
25 HPGD NM_000860.5(HPGD): c.-221G> A single nucleotide variant Uncertain significance rs116796476 GRCh38 Chromosome 4, 174522672: 174522672
26 HPGD NM_000860.5(HPGD): c.-221G> A single nucleotide variant Uncertain significance rs116796476 GRCh37 Chromosome 4, 175443823: 175443823
27 HPGD NM_000860.5(HPGD): c.-235C> A single nucleotide variant Uncertain significance rs886059257 GRCh38 Chromosome 4, 174522686: 174522686
28 HPGD NM_000860.5(HPGD): c.-235C> A single nucleotide variant Uncertain significance rs886059257 GRCh37 Chromosome 4, 175443837: 175443837
29 HPGD NM_000860.5(HPGD): c.-353C> T single nucleotide variant Uncertain significance rs374745050 GRCh38 Chromosome 4, 174522804: 174522804
30 HPGD NM_000860.5(HPGD): c.-353C> T single nucleotide variant Uncertain significance rs374745050 GRCh37 Chromosome 4, 175443955: 175443955
31 HPGD NM_000860.5(HPGD): c.-404G> C single nucleotide variant Benign rs1346271 GRCh38 Chromosome 4, 174522855: 174522855
32 HPGD NM_000860.5(HPGD): c.-404G> C single nucleotide variant Benign rs1346271 GRCh37 Chromosome 4, 175444006: 175444006
33 HPGD NM_000860.5(HPGD): c.*1511A> G single nucleotide variant Uncertain significance rs539552730 GRCh38 Chromosome 4, 174490445: 174490445
34 HPGD NM_000860.5(HPGD): c.*1511A> G single nucleotide variant Uncertain significance rs539552730 GRCh37 Chromosome 4, 175411596: 175411596
35 HPGD NM_000860.5(HPGD): c.*679T> C single nucleotide variant Uncertain significance rs561424050 GRCh38 Chromosome 4, 174491277: 174491277
36 HPGD NM_000860.5(HPGD): c.*679T> C single nucleotide variant Uncertain significance rs561424050 GRCh37 Chromosome 4, 175412428: 175412428
37 HPGD NM_000860.5(HPGD): c.*510G> C single nucleotide variant Uncertain significance rs886059250 GRCh37 Chromosome 4, 175412597: 175412597
38 HPGD NM_000860.5(HPGD): c.*510G> C single nucleotide variant Uncertain significance rs886059250 GRCh38 Chromosome 4, 174491446: 174491446
39 HPGD NM_000860.5(HPGD): c.*87A> G single nucleotide variant Uncertain significance rs45522334 GRCh38 Chromosome 4, 174491869: 174491869
40 HPGD NM_000860.5(HPGD): c.*87A> G single nucleotide variant Uncertain significance rs45522334 GRCh37 Chromosome 4, 175413020: 175413020
41 HPGD NM_000860.5(HPGD): c.-123C> T single nucleotide variant Uncertain significance rs886059256 GRCh38 Chromosome 4, 174522574: 174522574
42 HPGD NM_000860.5(HPGD): c.-123C> T single nucleotide variant Uncertain significance rs886059256 GRCh37 Chromosome 4, 175443725: 175443725
43 HPGD NM_000860.5(HPGD): c.-156T> C single nucleotide variant Uncertain significance rs552078994 GRCh38 Chromosome 4, 174522607: 174522607
44 HPGD NM_000860.5(HPGD): c.-156T> C single nucleotide variant Uncertain significance rs552078994 GRCh37 Chromosome 4, 175443758: 175443758
45 HPGD NM_000860.5(HPGD): c.-221G> C single nucleotide variant Uncertain significance rs116796476 GRCh38 Chromosome 4, 174522672: 174522672
46 HPGD NM_000860.5(HPGD): c.-221G> C single nucleotide variant Uncertain significance rs116796476 GRCh37 Chromosome 4, 175443823: 175443823
47 HPGD NM_000860.5(HPGD): c.-302C> T single nucleotide variant Uncertain significance rs145977377 GRCh38 Chromosome 4, 174522753: 174522753
48 HPGD NM_000860.5(HPGD): c.-302C> T single nucleotide variant Uncertain significance rs145977377 GRCh37 Chromosome 4, 175443904: 175443904
49 HPGD NM_000860.5(HPGD): c.*1725_*1726delGCinsAT indel Uncertain significance rs371061653 GRCh38 Chromosome 4, 174490230: 174490231
50 HPGD NM_000860.5(HPGD): c.*1725_*1726delGCinsAT indel Uncertain significance rs371061653 GRCh37 Chromosome 4, 175411381: 175411382

Expression for Digital Clubbing, Isolated Congenital

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

Pathways for Digital Clubbing, Isolated Congenital

GO Terms for Digital Clubbing, Isolated Congenital

Sources for Digital Clubbing, Isolated Congenital

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74 UMLS via Orphanet
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