ICNC
MCID: DGT002
MIFTS: 27

Digital Clubbing, Isolated Congenital (ICNC)

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

Aliases & Classifications for Digital Clubbing, Isolated Congenital

MalaCards integrated aliases for Digital Clubbing, Isolated Congenital:

Name: Digital Clubbing, Isolated Congenital 58 30 13 6 41
Isolated Congenital Nail Clubbing 60 76 38
Isolated Congenital Digital Clubbing 60 76
Clubbing of Digits 58 76
Isolated Congenital Acropachy 60
Acropachy, Hereditary 58
Hereditary Acropachy 76
Icnc 76

Characteristics:

Orphanet epidemiological data:

60
isolated congenital digital clubbing
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
digital clubbing, isolated congenital:
Inheritance autosomal dominant inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 58 119900
KEGG 38 H01246
MeSH 45 D009260
ICD10 via Orphanet 35 Q68.1
UMLS via Orphanet 75 C0345408
Orphanet 60 ORPHA217059
SNOMED-CT via HPO 70 258211005 263681008 367004

Summaries for Digital Clubbing, Isolated Congenital

UniProtKB/Swiss-Prot : 76 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 nail clubbing, is related to neutrophil actin dysfunction. An important gene associated with Digital Clubbing, Isolated Congenital is HPGD (15-Hydroxyprostaglandin Dehydrogenase). The drugs Spironolactone and Captopril have been mentioned in the context of this disorder. Affiliated tissues include skin, bone and neutrophil, and related phenotype is clubbing.

OMIM : 58 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

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

# Related Disease Score Top Affiliating Genes
1 neutrophil actin dysfunction 10.0

Symptoms & Phenotypes for Digital Clubbing, Isolated Congenital

Human phenotypes related to Digital Clubbing, Isolated Congenital:

33
# Description HPO Frequency HPO Source Accession
1 clubbing 33 HP:0001217

Symptoms via clinical synopsis from OMIM:

58
Skeletal Hands:
digital clubbing
acropachy

Skin Nails Hair Nails:
incurved nails

Skeletal Feet:
digital clubbing (in some patients)

Clinical features from OMIM:

119900

Drugs & Therapeutics for Digital Clubbing, Isolated Congenital

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

(show all 27)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Spironolactone Approved Phase 1 1952-01-7, 52-01-7 5833
2
Captopril Approved Phase 1 62571-86-2 44093
3
Carvedilol Approved, Investigational Phase 1 72956-09-3 2585
4
Calcium Approved, Nutraceutical Phase 1 7440-70-2 271
5 Adrenergic beta-Antagonists Phase 1
6 Mineralocorticoids Phase 1
7 Adrenergic alpha-1 Receptor Antagonists Phase 1
8 Antioxidants Phase 1
9 Natriuretic Agents Phase 1
10 Neurotransmitter Agents Phase 1
11 Hormone Antagonists Phase 1
12 Adrenergic alpha-Antagonists Phase 1
13 Vasodilator Agents Phase 1
14 Antihypertensive Agents Phase 1
15 Adrenergic Agents Phase 1
16 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 1
17 calcium channel blockers Phase 1
18 Hormones Phase 1
19 Adrenergic Antagonists Phase 1
20 diuretics Phase 1
21
protease inhibitors Phase 1
22 Angiotensin-Converting Enzyme Inhibitors Phase 1
23 Diuretics, Potassium Sparing Phase 1
24 Mineralocorticoid Receptor Antagonists Phase 1
25 HIV Protease Inhibitors Phase 1
26 Protective Agents Phase 1
27 Calcium, Dietary 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 30 HPGD

Anatomical Context for Digital Clubbing, Isolated Congenital

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

42
Skin, Bone, Neutrophil

Publications for Digital Clubbing, Isolated Congenital

Articles related to Digital Clubbing, Isolated Congenital:

# Title Authors Year
1
Homozygous SLCO2A1 translation initiation codon mutation in a Pakistani family with recessive isolated congenital nail clubbing. ( 27681482 )
2017
2
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:

76
# 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.-404G> C single nucleotide variant Benign rs1346271 GRCh37 Chromosome 4, 175444006: 175444006
4 HPGD NM_000860.5(HPGD): c.-156T> C single nucleotide variant Uncertain significance rs552078994 GRCh38 Chromosome 4, 174522607: 174522607
5 HPGD NM_000860.5(HPGD): c.-156T> C single nucleotide variant Uncertain significance rs552078994 GRCh37 Chromosome 4, 175443758: 175443758
6 HPGD NM_000860.5(HPGD): c.-221G> C single nucleotide variant Uncertain significance rs116796476 GRCh38 Chromosome 4, 174522672: 174522672
7 HPGD NM_000860.5(HPGD): c.-221G> C single nucleotide variant Uncertain significance rs116796476 GRCh37 Chromosome 4, 175443823: 175443823
8 HPGD NM_000860.5(HPGD): c.-302C> T single nucleotide variant Uncertain significance rs145977377 GRCh38 Chromosome 4, 174522753: 174522753
9 HPGD NM_000860.5(HPGD): c.-302C> T single nucleotide variant Uncertain significance rs145977377 GRCh37 Chromosome 4, 175443904: 175443904
10 HPGD NM_000860.5(HPGD): c.78G> A (p.Leu26=) single nucleotide variant Uncertain significance rs750817164 GRCh38 Chromosome 4, 174522374: 174522374
11 HPGD NM_000860.5(HPGD): c.78G> A (p.Leu26=) single nucleotide variant Uncertain significance rs750817164 GRCh37 Chromosome 4, 175443525: 175443525
12 HPGD NM_000860.5(HPGD): c.*1478C> T single nucleotide variant Uncertain significance rs886059245 GRCh38 Chromosome 4, 174490478: 174490478
13 HPGD NM_000860.5(HPGD): c.*1478C> T single nucleotide variant Uncertain significance rs886059245 GRCh37 Chromosome 4, 175411629: 175411629
14 HPGD NM_000860.5(HPGD): c.*1400T> G single nucleotide variant Uncertain significance rs547141987 GRCh38 Chromosome 4, 174490556: 174490556
15 HPGD NM_000860.5(HPGD): c.*1400T> G single nucleotide variant Uncertain significance rs547141987 GRCh37 Chromosome 4, 175411707: 175411707
16 HPGD NM_000860.5(HPGD): c.*1246G> A single nucleotide variant Uncertain significance rs542418235 GRCh38 Chromosome 4, 174490710: 174490710
17 HPGD NM_000860.5(HPGD): c.*1246G> A single nucleotide variant Uncertain significance rs542418235 GRCh37 Chromosome 4, 175411861: 175411861
18 HPGD NM_000860.5(HPGD): c.*1131C> T single nucleotide variant Uncertain significance rs886059246 GRCh38 Chromosome 4, 174490825: 174490825
19 HPGD NM_000860.5(HPGD): c.*1131C> T single nucleotide variant Uncertain significance rs886059246 GRCh37 Chromosome 4, 175411976: 175411976
20 HPGD NM_000860.5(HPGD): c.*914A> G single nucleotide variant Uncertain significance rs886059248 GRCh38 Chromosome 4, 174491042: 174491042
21 HPGD NM_000860.5(HPGD): c.*914A> G single nucleotide variant Uncertain significance rs886059248 GRCh37 Chromosome 4, 175412193: 175412193
22 HPGD NM_000860.5(HPGD): c.*749A> G single nucleotide variant Uncertain significance rs886059249 GRCh38 Chromosome 4, 174491207: 174491207
23 HPGD NM_000860.5(HPGD): c.*749A> G single nucleotide variant Uncertain significance rs886059249 GRCh37 Chromosome 4, 175412358: 175412358
24 HPGD NM_000860.5(HPGD): c.*95C> G single nucleotide variant Uncertain significance rs186313653 GRCh38 Chromosome 4, 174491861: 174491861
25 HPGD NM_000860.5(HPGD): c.*95C> G single nucleotide variant Uncertain significance rs186313653 GRCh37 Chromosome 4, 175413012: 175413012
26 HPGD NM_000860.5(HPGD): c.520A> C (p.Ser174Arg) single nucleotide variant Uncertain significance rs200207595 GRCh38 Chromosome 4, 174493293: 174493293
27 HPGD NM_000860.5(HPGD): c.520A> C (p.Ser174Arg) single nucleotide variant Uncertain significance rs200207595 GRCh37 Chromosome 4, 175414444: 175414444
28 HPGD NM_000860.5(HPGD): c.-453A> G single nucleotide variant Benign rs1346270 GRCh37 Chromosome 4, 175444055: 175444055
29 HPGD NM_000860.5(HPGD): c.-453A> G single nucleotide variant Benign rs1346270 GRCh38 Chromosome 4, 174522904: 174522904
30 HPGD NM_000860.5(HPGD): c.*968T> C single nucleotide variant Uncertain significance rs530460934 GRCh37 Chromosome 4, 175412139: 175412139
31 HPGD NM_000860.5(HPGD): c.*968T> C single nucleotide variant Uncertain significance rs530460934 GRCh38 Chromosome 4, 174490988: 174490988
32 HPGD NM_000860.5(HPGD): c.*1154T> C single nucleotide variant Benign rs9312555 GRCh37 Chromosome 4, 175411953: 175411953
33 HPGD NM_000860.5(HPGD): c.*1154T> C single nucleotide variant Benign rs9312555 GRCh38 Chromosome 4, 174490802: 174490802
34 HPGD NM_000860.5(HPGD): c.*1514A> G single nucleotide variant Uncertain significance rs45449496 GRCh37 Chromosome 4, 175411593: 175411593
35 HPGD NM_000860.5(HPGD): c.*1514A> G single nucleotide variant Uncertain significance rs45449496 GRCh38 Chromosome 4, 174490442: 174490442
36 HPGD NM_000860.5(HPGD): c.*1556C> T single nucleotide variant Uncertain significance rs886059244 GRCh37 Chromosome 4, 175411551: 175411551
37 HPGD NM_000860.5(HPGD): c.*1556C> T single nucleotide variant Uncertain significance rs886059244 GRCh38 Chromosome 4, 174490400: 174490400
38 HPGD NM_000860.5(HPGD): c.*1725G> A single nucleotide variant Benign rs2555660 GRCh37 Chromosome 4, 175411382: 175411382
39 HPGD NM_000860.5(HPGD): c.*1725G> A single nucleotide variant Benign rs2555660 GRCh38 Chromosome 4, 174490231: 174490231
40 HPGD NM_000860.5(HPGD): c.*1725_*1726delGCinsAT indel Uncertain significance rs371061653 GRCh37 Chromosome 4, 175411381: 175411382
41 HPGD NM_000860.5(HPGD): c.*1725_*1726delGCinsAT indel Uncertain significance rs371061653 GRCh38 Chromosome 4, 174490230: 174490231
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.-123C> T single nucleotide variant Uncertain significance rs886059256 GRCh38 Chromosome 4, 174522574: 174522574
44 HPGD NM_000860.5(HPGD): c.*87A> G single nucleotide variant Uncertain significance rs45522334 GRCh37 Chromosome 4, 175413020: 175413020
45 HPGD NM_000860.5(HPGD): c.*87A> G single nucleotide variant Uncertain significance rs45522334 GRCh38 Chromosome 4, 174491869: 174491869
46 HPGD NM_000860.5(HPGD): c.*510G> C single nucleotide variant Uncertain significance rs886059250 GRCh37 Chromosome 4, 175412597: 175412597
47 HPGD NM_000860.5(HPGD): c.*510G> C single nucleotide variant Uncertain significance rs886059250 GRCh38 Chromosome 4, 174491446: 174491446
48 HPGD NM_000860.5(HPGD): c.*679T> C single nucleotide variant Uncertain significance rs561424050 GRCh37 Chromosome 4, 175412428: 175412428
49 HPGD NM_000860.5(HPGD): c.*679T> C single nucleotide variant Uncertain significance rs561424050 GRCh38 Chromosome 4, 174491277: 174491277
50 HPGD NM_000860.5(HPGD): c.*1511A> G single nucleotide variant Uncertain significance rs539552730 GRCh37 Chromosome 4, 175411596: 175411596

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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70 SNOMED-CT via HPO
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75 UMLS via Orphanet
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