MCID: DFF032
MIFTS: 9

Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome

Categories: Rare diseases, Skin diseases

Aliases & Classifications for Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome

MalaCards integrated aliases for Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome:

Name: Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome 60
Diffuse Palmoplantar Hyperkeratosis-Acrocyanosis Syndrome 60

Characteristics:

Orphanet epidemiological data:

60
diffuse palmoplantar keratoderma-acrocyanosis syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide);

Classifications:

Orphanet: 60  
Rare skin diseases


External Ids:

ICD10 via Orphanet 35 Q82.8
Orphanet 60 ORPHA86918
SNOMED-CT via HPO 70 25003006 400123002

Summaries for Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome

MalaCards based summary : Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome, is also known as diffuse palmoplantar hyperkeratosis-acrocyanosis syndrome. Affiliated tissues include skin, and related phenotypes are acrocyanosis and diffuse palmoplantar keratoderma

Related Diseases for Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome

Symptoms & Phenotypes for Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome

Human phenotypes related to Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome:

60 33
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 acrocyanosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0001063
2 diffuse palmoplantar keratoderma 60 33 hallmark (90%) Very frequent (99-80%) HP:0007435

Drugs & Therapeutics for Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome

Search Clinical Trials , NIH Clinical Center for Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome

Genetic Tests for Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome

Anatomical Context for Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome

MalaCards organs/tissues related to Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome:

42
Skin

Publications for Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome

Variations for Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome

Expression for Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome

Search GEO for disease gene expression data for Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome.

Pathways for Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome

GO Terms for Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome

Sources for Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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