MCID: DGT002
MIFTS: 25

Digital Clubbing, Isolated Congenital

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 53 28 13
Isolated Congenital Nail Clubbing 55 71 36
Isolated Congenital Digital Clubbing 55 71
Clubbing of Digits 53 71
Isolated Congenital Acropachy 55
Acropachy, Hereditary 53
Hereditary Acropachy 71
Icnc 71

Characteristics:

Orphanet epidemiological data:

55
isolated congenital digital clubbing
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Infancy,Neonatal;

OMIM:

53
Inheritance:
autosomal recessive


HPO:

31
digital clubbing, isolated congenital:
Inheritance autosomal recessive inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 53 119900
Orphanet 55 ORPHA217059
UMLS via Orphanet 70 C0345408
ICD10 via Orphanet 33 Q68.1
MeSH 41 D009260
KEGG 36 H01246
SNOMED-CT via HPO 65 263681008 258211005 367004

Summaries for Digital Clubbing, Isolated Congenital

UniProtKB/Swiss-Prot : 71 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, and has symptoms including 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.

OMIM : 53 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:

53
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:

31
# Description HPO Frequency HPO Source Accession
1 clubbing 31 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 28 HPGD

Anatomical Context for Digital Clubbing, Isolated Congenital

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

38
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:

71
# Symbol AA change Variation ID SNP ID
1 HPGD p.Ser193Pro VAR_060792 rs121434481

ClinVar genetic disease variations for Digital Clubbing, Isolated Congenital:

6
# 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

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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