ICNC
MCID: DGT002
MIFTS: 23

Digital Clubbing, Isolated Congenital (ICNC) malady

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

Aliases & Classifications for Digital Clubbing, Isolated Congenital

Aliases & Descriptions for Digital Clubbing, Isolated Congenital:

Name: Digital Clubbing, Isolated Congenital 54 13
Isolated Congenital Digital Clubbing 24 56 66 29
Isolated Congenital Nail Clubbing 56 66
Hereditary Acropachy 24 66
Isolated Congenital Acropachy 56
Clubbing of Digits 66
Icnc 66

Characteristics:

Orphanet epidemiological data:

56
isolated congenital digital clubbing
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Infancy,Neonatal;

HPO:

32
digital clubbing, isolated congenital:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 119900
Orphanet 56 ORPHA217059
ICD10 via Orphanet 34 Q68.1
MedGen 40 C1861514
MeSH 42 D009260

Summaries for Digital Clubbing, Isolated Congenital

UniProtKB/Swiss-Prot : 66 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)). The drugs Captopril and Spironolactone have been mentioned in the context of this disorder. Affiliated tissues include bone and skin.

OMIM : 54 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

Symptoms & Phenotypes for Digital Clubbing, Isolated Congenital

Symptoms by clinical synopsis from OMIM:

119900

Clinical features from OMIM:

119900

Human phenotypes related to Digital Clubbing, Isolated Congenital:

32
id 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)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Captopril Approved Phase 1 62571-86-2 44093
2
Spironolactone Approved Phase 1 1952-01-7, 52-01-7 5833
3
Carvedilol Approved, Investigational Phase 1 72956-09-3 2585
4 diuretics Phase 1
5
protease inhibitors Phase 1
6 Adrenergic Agents Phase 1
7 Natriuretic Agents Phase 1
8 Adrenergic Antagonists Phase 1
9 Adrenergic alpha-1 Receptor Antagonists Phase 1
10 Adrenergic alpha-Antagonists Phase 1
11 Neurotransmitter Agents Phase 1
12 Adrenergic beta-Antagonists Phase 1
13 HIV Protease Inhibitors Phase 1
14 Hormone Antagonists Phase 1
15 Hormones Phase 1
16 Diuretics, Potassium Sparing Phase 1
17 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 1
18 Vasodilator Agents Phase 1
19 Angiotensin-Converting Enzyme Inhibitors Phase 1
20 Antihypertensive Agents Phase 1
21 Mineralocorticoid Receptor Antagonists Phase 1
22 Mineralocorticoids Phase 1

Interventional clinical trials:


id Name Status NCT ID Phase
1 Spironolactone Combined With Captopril and Carvedilol for the Treatment of Pulmonary Arterial Hypertension Completed NCT00240656 Phase 1

Search NIH Clinical Center for Digital Clubbing, Isolated Congenital

Genetic Tests for Digital Clubbing, Isolated Congenital

Genetic tests related to Digital Clubbing, Isolated Congenital:

id Genetic test Affiliating Genes
1 Digital Clubbing, Isolated Congenital 29
2 Isolated Congenital Digital Clubbing 24 HPGD

Anatomical Context for Digital Clubbing, Isolated Congenital

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

39
Bone, Skin

Publications for Digital Clubbing, Isolated Congenital

Variations for Digital Clubbing, Isolated Congenital

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

66
id Symbol AA change Variation ID SNP ID
1 HPGD p.Ser193Pro VAR_060792 rs121434481

ClinVar genetic disease variations for Digital Clubbing, Isolated Congenital:

6
id 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
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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