MCID: ANN009
MIFTS: 13

Anonychia-Onychodystrophy with Brachydactyly Type B and Ectrodactyly

Categories: Rare diseases

Aliases & Classifications for Anonychia-Onychodystrophy with Brachydactyly Type B and...

MalaCards integrated aliases for Anonychia-Onychodystrophy with Brachydactyly Type B and Ectrodactyly:

Name: Anonychia-Onychodystrophy with Brachydactyly Type B and Ectrodactyly 57 20
Autosomal Dominant Onychodystrophy and Anonychia with Type B Brachydactyly and Ectrodactyly 20

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant


HPO:

31
anonychia-onychodystrophy with brachydactyly type b and ectrodactyly:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM® 57 106990
MedGen 41 C1862842

Summaries for Anonychia-Onychodystrophy with Brachydactyly Type B and...

MalaCards based summary : Anonychia-Onychodystrophy with Brachydactyly Type B and Ectrodactyly, also known as autosomal dominant onychodystrophy and anonychia with type b brachydactyly and ectrodactyly, is related to anonychia-onychodystrophy with hypoplasia or absence of distal phalanges and split-hand/foot malformation 1. Related phenotypes are split hand and nail dysplasia

More information from OMIM: 106990

Related Diseases for Anonychia-Onychodystrophy with Brachydactyly Type B and...

Diseases related to Anonychia-Onychodystrophy with Brachydactyly Type B and Ectrodactyly via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 anonychia-onychodystrophy with hypoplasia or absence of distal phalanges 10.5
2 split-hand/foot malformation 1 10.5
3 nail disorder, nonsyndromic congenital, 9 10.5
4 brachydactyly 10.5
5 isolated split hand-split foot malformation 10.5

Graphical network of the top 20 diseases related to Anonychia-Onychodystrophy with Brachydactyly Type B and Ectrodactyly:



Diseases related to Anonychia-Onychodystrophy with Brachydactyly Type B and Ectrodactyly

Symptoms & Phenotypes for Anonychia-Onychodystrophy with Brachydactyly Type B and...

Human phenotypes related to Anonychia-Onychodystrophy with Brachydactyly Type B and Ectrodactyly:

31 (show all 8)
# Description HPO Frequency HPO Source Accession
1 split hand 31 HP:0001171
2 nail dysplasia 31 HP:0002164
3 nail dystrophy 31 HP:0008404
4 anonychia 31 HP:0001798
5 short metatarsal 31 HP:0010743
6 type b brachydactyly 31 HP:0005831
7 ectodermal dysplasia 31 HP:0000968
8 aplasia/hypoplasia of the distal phalanges of the hand 31 HP:0009835

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Limbs:
ectrodactyly
absent/hypoplastic metacarpals
absent/hypoplastic distal phalanges
hypoplastic metatarsals

Skin:
ectodermal dysplasia

Nails:
anonychia
onychodystrophy

Clinical features from OMIM®:

106990 (Updated 20-May-2021)

Drugs & Therapeutics for Anonychia-Onychodystrophy with Brachydactyly Type B and...

Search Clinical Trials , NIH Clinical Center for Anonychia-Onychodystrophy with Brachydactyly Type B and Ectrodactyly

Genetic Tests for Anonychia-Onychodystrophy with Brachydactyly Type B and...

Anatomical Context for Anonychia-Onychodystrophy with Brachydactyly Type B and...

Publications for Anonychia-Onychodystrophy with Brachydactyly Type B and...

Articles related to Anonychia-Onychodystrophy with Brachydactyly Type B and Ectrodactyly:

# Title Authors PMID Year
1
Autosomal dominant onychodystrophy and anonychia with type B brachydactyly and ectrodactyly. 61 57
3780038 1986
2
A novel patient with Cooks syndrome supports splitting from "classic" brachydactyly type B. 57
17163524 2007

Variations for Anonychia-Onychodystrophy with Brachydactyly Type B and...

Expression for Anonychia-Onychodystrophy with Brachydactyly Type B and...

Search GEO for disease gene expression data for Anonychia-Onychodystrophy with Brachydactyly Type B and Ectrodactyly.

Pathways for Anonychia-Onychodystrophy with Brachydactyly Type B and...

GO Terms for Anonychia-Onychodystrophy with Brachydactyly Type B and...

Sources for Anonychia-Onychodystrophy with Brachydactyly Type B and...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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