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 56 29 13 6 39
Isolated Congenital Nail Clubbing 58 73 36
Isolated Congenital Digital Clubbing 58 73
Clubbing of Digits 56 73
Isolated Congenital Acropachy 58
Acropachy, Hereditary 56
Hereditary Acropachy 73
Icnc 73

Characteristics:

Orphanet epidemiological data:

58
isolated congenital digital clubbing
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
autosomal recessive


HPO:

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


Classifications:

Orphanet: 58  
Rare bone diseases
Rare skin diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM 56 119900
KEGG 36 H01246
MeSH 43 D009260
ICD10 via Orphanet 33 Q68.1
UMLS via Orphanet 72 C0345408
Orphanet 58 ORPHA217059
SNOMED-CT via HPO 68 258211005 263681008 367004

Summaries for Digital Clubbing, Isolated Congenital

UniProtKB/Swiss-Prot : 73 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 autosomal recessive disease and diarrhea. An important gene associated with Digital Clubbing, Isolated Congenital is HPGD (15-Hydroxyprostaglandin Dehydrogenase). Affiliated tissues include bone and skin, and related phenotype is clubbing.

OMIM : 56 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)

KEGG : 36 Isolated congenital nail clubbing (ICNC) is a rare autosomal recessive disorder characterised by enlargement of the terminal segments of fingers and toes with thickened nails due to proliferation of the connective tissues and abnormal function of the nail matrix. It has been reported that mutation in the HPGD gene underlies ICNC.

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 autosomal recessive disease 10.0
2 diarrhea 9.8

Symptoms & Phenotypes for Digital Clubbing, Isolated Congenital

Human phenotypes related to Digital Clubbing, Isolated Congenital:

31
# Description HPO Frequency HPO Source Accession
1 clubbing 31 HP:0001217

Symptoms via clinical synopsis from OMIM:

56
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

Search Clinical Trials , 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:

40
Bone, Skin

Publications for Digital Clubbing, Isolated Congenital

Articles related to Digital Clubbing, Isolated Congenital:

# Title Authors PMID Year
1
Mutation in the HPGD gene encoding NAD+ dependent 15-hydroxyprostaglandin dehydrogenase underlies isolated congenital nail clubbing (ICNC). 61 56 6
18805827 2009
2
The rational clinical examination. Does this patient have clubbing? 56
11466101 2001
3
Idiopathic hypertrophic osteoarthropathy without pachyderma. 56
704851 1978
4
CLUBBING, A REVIEW, WITH EMPHASIS ON HEREDITARY ACROPACHY. 56
14183519 1964
5
Familial clubbed fingers. 56
13718935 1961
6
Congenital Familial Clubbing of the Fingers and Toes. 56
20320148 1936
7
THE OCCURRENCE OF CLUBBED FINGERS IN HEALTHY PERSONS AS A FAMILIAL PECULIARITY. 56
20769632 1919
8
Homozygous SLCO2A1 translation initiation codon mutation in a Pakistani family with recessive isolated congenital nail clubbing. 61
27681482 2017

Variations for Digital Clubbing, Isolated Congenital

ClinVar genetic disease variations for Digital Clubbing, Isolated Congenital:

6 (show all 48) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 HPGD NM_000860.6(HPGD):c.577T>C (p.Ser193Pro)SNV Pathogenic 7920 rs121434481 4:175414387-175414387 4:174493236-174493236
2 HPGD NM_000860.6(HPGD):c.680A>G (p.Asn227Ser)SNV Conflicting interpretations of pathogenicity 348200 rs117270501 4:175413228-175413228 4:174492077-174492077
3 HPGD NM_000860.6(HPGD):c.*1618A>TSNV Uncertain significance 348171 rs886059242 4:175411489-175411489 4:174490338-174490338
4 HPGD NM_000860.6(HPGD):c.*1584A>GSNV Uncertain significance 348172 rs886059243 4:175411523-175411523 4:174490372-174490372
5 HPGD NM_000860.6(HPGD):c.*1203A>CSNV Uncertain significance 348179 rs766485728 4:175411904-175411904 4:174490753-174490753
6 HPGD NM_000860.6(HPGD):c.*941C>TSNV Uncertain significance 348183 rs886059247 4:175412166-175412166 4:174491015-174491015
7 HPGD NM_000860.6(HPGD):c.*798deldeletion Uncertain significance 348185 rs530867889 4:175412309-175412309 4:174491158-174491158
8 HPGD NM_000860.6(HPGD):c.*207G>ASNV Uncertain significance 348193 rs181290362 4:175412900-175412900 4:174491749-174491749
9 HPGD NM_000860.6(HPGD):c.*1511A>GSNV Uncertain significance 348175 rs539552730 4:175411596-175411596 4:174490445-174490445
10 HPGD NM_000860.6(HPGD):c.*679T>CSNV Uncertain significance 348187 rs561424050 4:175412428-175412428 4:174491277-174491277
11 HPGD NM_000860.6(HPGD):c.*510G>CSNV Uncertain significance 348190 rs886059250 4:175412597-175412597 4:174491446-174491446
12 HPGD NM_000860.6(HPGD):c.*87A>GSNV Uncertain significance 348197 rs45522334 4:175413020-175413020 4:174491869-174491869
13 HPGD NM_001145816.2(HPGD):c.-123C>TSNV Uncertain significance 348206 rs886059256 4:175443725-175443725 4:174522574-174522574
14 HPGD NM_001145816.2(HPGD):c.-156T>CSNV Uncertain significance 348207 rs552078994 4:175443758-175443758 4:174522607-174522607
15 HPGD NM_001145816.2(HPGD):c.-221G>CSNV Uncertain significance 348208 rs116796476 4:175443823-175443823 4:174522672-174522672
16 HPGD NM_001145816.2(HPGD):c.-302C>TSNV Uncertain significance 348211 rs145977377 4:175443904-175443904 4:174522753-174522753
17 HPGD NM_000860.6(HPGD):c.*1725_*1726delinsATindel Uncertain significance 348169 rs371061653 4:175411381-175411382 4:174490230-174490231
18 HPGD NM_001145816.2(HPGD):c.-221G>ASNV Uncertain significance 348209 rs116796476 4:175443823-175443823 4:174522672-174522672
19 HPGD NM_001145816.2(HPGD):c.-235C>ASNV Uncertain significance 348210 rs886059257 4:175443837-175443837 4:174522686-174522686
20 HPGD NM_001145816.2(HPGD):c.-353C>TSNV Uncertain significance 348212 rs374745050 4:175443955-175443955 4:174522804-174522804
21 HPGD NM_000860.6(HPGD):c.*1556C>TSNV Uncertain significance 348173 rs886059244 4:175411551-175411551 4:174490400-174490400
22 HPGD NM_000860.6(HPGD):c.*1514A>GSNV Uncertain significance 348174 rs45449496 4:175411593-175411593 4:174490442-174490442
23 HPGD NM_000860.6(HPGD):c.*968T>CSNV Uncertain significance 348182 rs530460934 4:175412139-175412139 4:174490988-174490988
24 HPGD NM_000860.6(HPGD):c.78G>A (p.Leu26=)SNV Uncertain significance 348205 rs750817164 4:175443525-175443525 4:174522374-174522374
25 HPGD NM_000860.6(HPGD):c.*1478C>TSNV Uncertain significance 348176 rs886059245 4:175411629-175411629 4:174490478-174490478
26 HPGD NM_000860.6(HPGD):c.*1400T>GSNV Uncertain significance 348177 rs547141987 4:175411707-175411707 4:174490556-174490556
27 HPGD NM_000860.6(HPGD):c.*1246G>ASNV Uncertain significance 348178 rs542418235 4:175411861-175411861 4:174490710-174490710
28 HPGD NM_000860.6(HPGD):c.*1131C>TSNV Uncertain significance 348181 rs886059246 4:175411976-175411976 4:174490825-174490825
29 HPGD NM_000860.6(HPGD):c.*914A>GSNV Uncertain significance 348184 rs886059248 4:175412193-175412193 4:174491042-174491042
30 HPGD NM_000860.6(HPGD):c.*749A>GSNV Uncertain significance 348186 rs886059249 4:175412358-175412358 4:174491207-174491207
31 HPGD NM_000860.6(HPGD):c.*95C>GSNV Uncertain significance 348196 rs186313653 4:175413012-175413012 4:174491861-174491861
32 HPGD NM_000860.6(HPGD):c.520A>C (p.Ser174Arg)SNV Uncertain significance 348201 rs200207595 4:175414444-175414444 4:174493293-174493293
33 HPGD NM_000860.6(HPGD):c.*248A>GSNV Uncertain significance 348192 rs886059251 4:175412859-175412859 4:174491708-174491708
34 HPGD NM_000860.6(HPGD):c.*157A>GSNV Uncertain significance 348194 rs886059252 4:175412950-175412950 4:174491799-174491799
35 HPGD NM_000860.6(HPGD):c.773C>A (p.Thr258Lys)SNV Uncertain significance 348199 rs886059254 4:175413135-175413135 4:174491984-174491984
36 HPGD NM_000860.6(HPGD):c.421G>A (p.Gly141Arg)SNV Uncertain significance 348203 rs886059255 4:175429847-175429847 4:174508696-174508696
37 HPGD NM_000860.6(HPGD):c.*606_*609deldeletion Uncertain significance 348189 rs45618536 4:175412498-175412501 4:174491347-174491350
38 HPGD NM_000860.6(HPGD):c.*54A>TSNV Uncertain significance 348198 rs886059253 4:175413053-175413053 4:174491902-174491902
39 HPGD NM_000860.6(HPGD):c.*132G>ASNV Likely benign 348195 rs2253170 4:175412975-175412975 4:174491824-174491824
40 HPGD NM_000860.6(HPGD):c.489C>T (p.Arg163=)SNV Benign/Likely benign 348202 rs17060544 4:175416708-175416708 4:174495557-174495557
41 HPGD NM_000860.6(HPGD):c.*1726C>TSNV Benign 348168 rs2612691 4:175411381-175411381 4:174490230-174490230
42 HPGD NM_000860.6(HPGD):c.*1725G>ASNV Benign 348170 rs2555660 4:175411382-175411382 4:174490231-174490231
43 HPGD NM_000860.5(HPGD):c.-453A>GSNV Benign 369440 rs1346270 4:175444055-175444055 4:174522904-174522904
44 HPGD NM_000860.6(HPGD):c.*630G>ASNV Benign 348188 rs8752 4:175412477-175412477 4:174491326-174491326
45 HPGD NM_000860.6(HPGD):c.*1154T>CSNV Benign 348180 rs9312555 4:175411953-175411953 4:174490802-174490802
46 HPGD NM_001145816.2(HPGD):c.-404G>CSNV Benign 348213 rs1346271 4:175444006-175444006 4:174522855-174522855
47 HPGD NM_000860.6(HPGD):c.*418G>TSNV Benign 348191 rs2253270 4:175412689-175412689 4:174491538-174491538
48 HPGD NM_000860.6(HPGD):c.156G>A (p.Gln52=)SNV Benign 348204 rs1050145 4:175443156-175443156 4:174522005-174522005

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

73
# Symbol AA change Variation ID SNP ID
1 HPGD p.Ser193Pro VAR_060792 rs121434481

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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