ODP
MCID: ANN010
MIFTS: 23

Anonychia-Onychodystrophy with Hypoplasia or Absence of Distal Phalanges (ODP)

Categories: Bone diseases, Fetal diseases, Rare diseases, Skin 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 57 20
Cooks Syndrome 57 73 20 58
Anonychia-Onychodystrophy with Hypoplasia or Absence of Distal Phalanges Syndrome 58
Anonychia and Absence/hypoplasia of Distal Phalanges 20
Odp 58

Characteristics:

Orphanet epidemiological data:

58
cooks syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant


HPO:

31
anonychia-onychodystrophy with hypoplasia or absence of distal phalanges:
Inheritance autosomal dominant inheritance


Classifications:

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


External Ids:

OMIM® 57 106995
ICD10 via Orphanet 33 Q84.6
UMLS via Orphanet 71 C1862841
Orphanet 58 ORPHA1487
MedGen 41 C1862841

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

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1487 Definition Cooks 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. Epidemiology To date, less than 20 individuals have been described in the world literature. Clinical description Cooks 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). Etiology The 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 counseling An autosomal dominant mode of inheritance has been proposed. Genetic counseling may be proposed and the recurrence risk is of 50%.

MalaCards based summary : Anonychia-Onychodystrophy with Hypoplasia or Absence of Distal Phalanges, also known as cooks syndrome, is related to hypertrophy of the breast, juvenile and brachydactyly. Related phenotypes are broad thumb and brachydactyly

OMIM® : 57 Familial anonychia/onychodystrophy with hypoplasia or absence of distal phalanges (ODP) is a rare disorder characterized by onychodystrophy, anonychia, brachydactyly of the fifth finger, and digitalization of the thumbs, with absence or hypoplasia of the distal phalanges of the hands and feet. Generally the nails of the first to third digits are progressively deformed with total anonychia in the last 2 digits and in all toes (summary by Genzer-Nir et al., 2010). A syndrome has been described in which affected females display juvenile hypertrophy of the breast (JHB; 113670) in association with ODP, whereas males have only ODP (mammary-digital-nail syndrome; 613689). (106995) (Updated 05-Apr-2021)

Wikipedia : 73 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:

(show all 14)
# Related Disease Score Top Affiliating Genes
1 hypertrophy of the breast, juvenile 11.1
2 brachydactyly 10.2
3 optic disc pit 10.1
4 anonychia-onychodystrophy with brachydactyly type b and ectrodactyly 9.9
5 nail disorder, nonsyndromic congenital, 9 9.9
6 retinal detachment 9.9
7 retinoschisis 1, x-linked, juvenile 9.9
8 intraocular pressure quantitative trait locus 9.9
9 primary angle-closure glaucoma 9.9
10 keratosis 9.9
11 pancreatic ductal adenocarcinoma 9.9
12 pancreatic adenocarcinoma 9.9
13 pustulosis of palm and sole 9.9
14 psoriasis 9.9

Graphical network of the top 20 diseases related to Anonychia-Onychodystrophy with Hypoplasia or Absence of Distal Phalanges:



Diseases related to Anonychia-Onychodystrophy with Hypoplasia or Absence of Distal Phalanges

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

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

58 31 (show all 21)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 broad thumb 58 31 hallmark (90%) Very frequent (99-80%) HP:0011304
2 brachydactyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0001156
3 split hand 58 31 hallmark (90%) Very frequent (99-80%) HP:0001171
4 triphalangeal thumb 58 31 hallmark (90%) Very frequent (99-80%) HP:0001199
5 dystrophic toenail 58 31 hallmark (90%) Very frequent (99-80%) HP:0001810
6 aplastic/hypoplastic toenail 58 31 hallmark (90%) Very frequent (99-80%) HP:0010624
7 dystrophic fingernails 58 31 hallmark (90%) Very frequent (99-80%) HP:0008391
8 high palate 31 HP:0000218
9 downslanted palpebral fissures 31 HP:0000494
10 prominent nasal bridge 31 HP:0000426
11 short philtrum 31 HP:0000322
12 underdeveloped nasal alae 31 HP:0000430
13 nail dysplasia 31 HP:0002164
14 complete duplication of thumb phalanx 31 HP:0009943
15 abnormal toenail morphology 58 Frequent (79-30%)
16 nail dystrophy 31 HP:0008404
17 prominent nose 31 HP:0000448
18 anonychia 31 HP:0001798
19 short 5th finger 31 HP:0009237
20 shortening of all distal phalanges of the fingers 31 HP:0006118
21 shortening of all distal phalanges of the toes 31 HP:0005793

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Mouth:
short philtrum
high-arched palate

Skin Nails Hair Nails:
anonychia
onychodystrophy

Skeletal Hands:
fifth finger brachydactyly
digitalization of thumbs
absent/hypoplastic distal phalanges of hands

Head And Neck Nose:
prominent nose
high nasal bridge
bulbous tip
hypoplastic alae nasi

Head And Neck Eyes:
downslanting palpebral fissures

Skeletal Feet:
absent/hypoplastic distal phalanges of feet

Clinical features from OMIM®:

106995 (Updated 05-Apr-2021)

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...

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

(show all 12)
# Title Authors PMID Year
1
Mammary-digital-nail (MDN) syndrome: a novel phenotype maps to human chromosome 22q12.3-13.1. 57 61
20145678 2010
2
A novel patient with Cooks syndrome supports splitting from "classic" brachydactyly type B. 57 61
17163524 2007
3
Brachydactyly type B with its distinct facies and 'Cooks syndrome' are the same entity. 61 57
10327250 1999
4
Anonychia and absence/hypoplasia of distal phalanges (Cooks syndrome): report of a second family. 61 57
7473658 1995
5
Duplications of noncoding elements 5' of SOX9 are associated with brachydactyly-anonychia. 57
19639023 2009
6
Characteristic facies in type B brachydactyly? 57
7981857 1994
7
Autosomal dominant onychodystrophy and anonychia with type B brachydactyly and ectrodactyly. 57
3780038 1986
8
A new nail dysplasia syndrome with onychonychia and absence and/or hypoplasia of distal phalanges. 57
3978841 1985
9
[Hereditary brachydactyly with nail aplasia]. 57
7315521 1981
10
Congenital anonychia and brachydactyly of the left foot - Cooks syndrome variant: Case report and review of literature. 61
25400355 2014
11
Cooks syndrome: a case report and brief review. 61
22329539 2013
12
Brachydactyly, anonychia and a deformed nasal tip in a 16-year-old girl: a case report. 61
20926359 2011

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...

3 CDC
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61 PubMed
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71 UMLS via Orphanet
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