MCID: ANN010
MIFTS: 11

Anonychia-Onychodystrophy with Hypoplasia or Absence of Distal Phalanges

Categories: Rare diseases

Aliases & Classifications for Anonychia-Onychodystrophy with Hypoplasia or Absence of Distal...

MalaCards integrated aliases for Anonychia-Onychodystrophy with Hypoplasia or Absence of Distal Phalanges:

Name: Anonychia-Onychodystrophy with Hypoplasia or Absence of Distal Phalanges 50
Anonychia and Absence/hypoplasia of Distal Phalanges 50
Cooks Syndrome 50

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Summaries for Anonychia-Onychodystrophy with Hypoplasia or Absence of Distal...

NIH Rare Diseases : 50 the following summary is from orphanet, a european reference portal for information on rare diseases and orphan drugs.orpha number: 1487disease definitioncooks syndrome is a malformation syndrome affecting the apical structures of digits and presenting with hypo/aplasia of nails and distal phalanges. more than half of digits are usually involved and the thumbs may appear digitalized.epidemiologyto date, less than 20 individuals have been described in the world literature.clinical descriptioncooks syndrome is congenital and presents with hypo/anonychia, small or absent distal phalanges and digitalization of the thumbs. usually, the nails of digits 1-3 are progressively deformed, with anonychia congenita totalis (see this term) in the digits 4-5 and in all toes. additional features include hypoplasia of the distal phalanges in digits 2-4 with absence of the distal phalanx of digit 5. in the feet, there is absence of all distal phalanges of digits 2-5 with hypoplasia of the distal phalanx of digit 1. finger pads at the dorsal aspects of the affected fingers may occasionally be seen. to date, no facial dysmorphism has been associated with cooks syndrome. cooks syndrome is considered a clinical form of brachydactyly type b (see this term), distinct from the typical variant with sparing or duplication of the thumbs and caused by mutations in the ror2 gene (9q22).etiologythe exact etiology of cooks syndrome is still unknown but microduplications on chromosome 17q24.3 and involvement of a non-coding element of the sox9 gene (17q24.3) have recently been associated in some patients with cooks syndrome. the sox9 gene is necessary for chondrocyte differentiation and cartilage formation.genetic counselingan autosomal dominant mode of inheritance has been proposed. genetic counseling may be proposed and the recurrence risk is of 50%.visit the orphanet disease page for more resources. last updated: 11/1/2014

MalaCards based summary : Anonychia-Onychodystrophy with Hypoplasia or Absence of Distal Phalanges, also known as anonychia and absence/hypoplasia of distal phalanges, is related to brachydactyly, and has symptoms including brachydactyly, split hand and triphalangeal thumb.

Wikipedia : 72 Cooks syndrome is a hereditary disorder which is characterized in the hands by bilateral nail hypoplasia... more...

Related Diseases for Anonychia-Onychodystrophy with Hypoplasia or Absence of Distal...

Diseases related to Anonychia-Onychodystrophy with Hypoplasia or Absence of Distal Phalanges via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 brachydactyly 9.8

Symptoms & Phenotypes for Anonychia-Onychodystrophy with Hypoplasia or Absence of Distal...

Human phenotypes related to Anonychia-Onychodystrophy with Hypoplasia or Absence of Distal Phalanges:

32 (show all 7)
id Description HPO Frequency HPO Source Accession
1 brachydactyly 32 hallmark (90%) HP:0001156
2 split hand 32 hallmark (90%) HP:0001171
3 triphalangeal thumb 32 hallmark (90%) HP:0001199
4 dystrophic toenail 32 hallmark (90%) HP:0001810
5 dystrophic fingernails 32 hallmark (90%) HP:0008391
6 aplastic/hypoplastic toenail 32 hallmark (90%) HP:0010624
7 broad thumb 32 hallmark (90%) HP:0011304

Drugs & Therapeutics for Anonychia-Onychodystrophy with Hypoplasia or Absence of Distal...

Search Clinical Trials , NIH Clinical Center for Anonychia-Onychodystrophy with Hypoplasia or Absence of Distal Phalanges

Genetic Tests for Anonychia-Onychodystrophy with Hypoplasia or Absence of Distal...

Anatomical Context for Anonychia-Onychodystrophy with Hypoplasia or Absence of Distal...

Publications for Anonychia-Onychodystrophy with Hypoplasia or Absence of Distal...

Variations for Anonychia-Onychodystrophy with Hypoplasia or Absence of Distal...

Expression for Anonychia-Onychodystrophy with Hypoplasia or Absence of Distal...

Search GEO for disease gene expression data for Anonychia-Onychodystrophy with Hypoplasia or Absence of Distal Phalanges.

Pathways for Anonychia-Onychodystrophy with Hypoplasia or Absence of Distal...

GO Terms for Anonychia-Onychodystrophy with Hypoplasia or Absence of Distal...

Sources for Anonychia-Onychodystrophy with Hypoplasia or Absence of Distal...

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