Isolated congenital digital clubbing

General Information (adopted from Orphanet):

Synonyms, Signs: ACROPACHY, HEREDITARY
CLUBBING OF DIGITS
Isolated congenital nail clubbing
Isolated congenital acropachy
Number of Symptoms 3
OrphanetNr: 217059
OMIM Id: 119900
ICD-10: Q68.1
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Isolated nail anomaly
 -Rare genetic disease
 -Rare skin disease
Joint formation defects
 -Rare bone disease
 -Rare developmental defect during embryogenesis

Symptom Information: Sort by abundance 

1
(HPO:0001217) Clubbing 39 / 7739
2
(OMIM) Acropachy 1 / 7739
3
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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).
Diagnosis OMIM Myers and Farquhar (2001) analyzed 16 published reports of digital clubbing in which quantitative or qualitative assessment was described. The authors stated that clubbing, which is almost always painless, is caused by proliferation of connective tissue between the ...
Clinical Description OMIM Weber (1919) reported 2 unrelated families and 1 unrelated individual with isolated clubbing of the digits. One family involved 2 otherwise healthy 25-year-old twin brothers who had clubbing of all digits in both hands; the toes were not ...
Molecular genetics OMIM In a 6-generation consanguineous Pakistani family with isolated congenital clubbing mapping to chromosome 4q32.3, Tariq et al. (2009) sequenced 10 candidate genes and identified homozygosity for a missense mutation in the HPGD gene (S193P; 601688.0004) in affected individuals. ...