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 59
Diffuse Palmoplantar Hyperkeratosis-Acrocyanosis Syndrome 59

Characteristics:

Orphanet epidemiological data:

59
diffuse palmoplantar keratoderma-acrocyanosis syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide);

Classifications:

Orphanet: 59  
Rare skin diseases


External Ids:

Orphanet 59 ORPHA86918
ICD10 via Orphanet 34 Q82.8
SNOMED-CT via HPO 69 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:

59 32
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 acrocyanosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0001063
2 diffuse palmoplantar keratoderma 59 32 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:

41
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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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