MCID: KRT067
MIFTS: 20

Keratoderma, Palmoplantar, with Nail Dystrophy and Hereditary Motor-Sensory Neuropathy

Categories: Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Keratoderma, Palmoplantar, with Nail Dystrophy and Hereditary...

MalaCards integrated aliases for Keratoderma, Palmoplantar, with Nail Dystrophy and Hereditary Motor-Sensory Neuropathy:

Name: Keratoderma, Palmoplantar, with Nail Dystrophy and Hereditary Motor-Sensory Neuropathy 56 52
Charcot-Marie-Tooth Disease with Palmoplantar Keratoderma and Nail Dystrophy 56 52
Palmoplantar Keratoderma-Spastic Paralysis Syndrome 52 58
Axonal Neuropathy with Palmoplantar Keratoderma 56 52
Powell-Venencie-Gordon Syndrome 52 58
Palmoplantar Keratoderma-Hereditary Motor and Sensory Neuropathy Syndrome 58
Palmoplantar Hyperkeratosis-Spastic Paralysis Syndrome 58
Palmoplantar Keratoderma-Charcot-Marie-Tooth Syndrome 58
Keratoderma Palmoplantar Spastic Paralysis 52
Powell Venencie Gordon Syndrome 71

Characteristics:

Orphanet epidemiological data:

58
palmoplantar keratoderma-spastic paralysis syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages;

OMIM:

56
Inheritance:
heterogeneous
autosomal dominant


HPO:

31
keratoderma, palmoplantar, with nail dystrophy and hereditary motor-sensory neuropathy:
Inheritance autosomal dominant inheritance heterogeneous


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare skin diseases


External Ids:

OMIM 56 148360
MESH via Orphanet 44 C536153
UMLS via Orphanet 72 C1835671 C2931828
MedGen 41 C1835671
UMLS 71 C2931828

Summaries for Keratoderma, Palmoplantar, with Nail Dystrophy and Hereditary...

MalaCards based summary : Keratoderma, Palmoplantar, with Nail Dystrophy and Hereditary Motor-Sensory Neuropathy, also known as charcot-marie-tooth disease with palmoplantar keratoderma and nail dystrophy, is related to charcot-marie-tooth disease, and has symptoms including muscle spasticity An important gene associated with Keratoderma, Palmoplantar, with Nail Dystrophy and Hereditary Motor-Sensory Neuropathy is KRT1 (Keratin 1). Affiliated tissues include skin, and related phenotypes are gait disturbance and emg abnormality

More information from OMIM: 148360

Related Diseases for Keratoderma, Palmoplantar, with Nail Dystrophy and Hereditary...

Diseases related to Keratoderma, Palmoplantar, with Nail Dystrophy and Hereditary Motor-Sensory Neuropathy via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 1, show less)
# Related Disease Score Top Affiliating Genes
1 charcot-marie-tooth disease 9.2 MPZ KRT1

Symptoms & Phenotypes for Keratoderma, Palmoplantar, with Nail Dystrophy and Hereditary...

Human phenotypes related to Keratoderma, Palmoplantar, with Nail Dystrophy and Hereditary Motor-Sensory Neuropathy:

58 31 (showing 17, show less)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 gait disturbance 58 31 hallmark (90%) Very frequent (99-80%) HP:0001288
2 emg abnormality 58 31 hallmark (90%) Very frequent (99-80%) HP:0003457
3 palmoplantar keratoderma 58 31 hallmark (90%) Very frequent (99-80%) HP:0000982
4 pes cavus 58 31 hallmark (90%) Very frequent (99-80%) HP:0001761
5 abnormal toenail morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0008388
6 muscle flaccidity 58 31 hallmark (90%) Very frequent (99-80%) HP:0010547
7 pain insensitivity 58 31 hallmark (90%) Very frequent (99-80%) HP:0007021
8 abnormal fingernail morphology 31 hallmark (90%) HP:0001231
9 spasticity 58 31 frequent (33%) Frequent (79-30%) HP:0001257
10 hemiplegia 58 31 frequent (33%) Frequent (79-30%) HP:0002301
11 motor axonal neuropathy 31 HP:0007002
12 nail dystrophy 31 HP:0008404
13 peripheral neuropathy 58 Very frequent (99-80%)
14 thickened skin 58 Very frequent (99-80%)
15 abnormality of the fingernails 58 Very frequent (99-80%)
16 sensory axonal neuropathy 31 HP:0003390
17 nail dysplasia 31 HP:0002164

Symptoms via clinical synopsis from OMIM:

56
Skin:
palmoplantar keratoderma

Limbs:
pes cavus

Misc:
congenital or early childhood onset of nail dystrophy

Nails:
nail dystrophy

Neuro:
motor and sensory neuropathy

Lab:
electrophysiologic evidence of axonal neuropathy

Clinical features from OMIM:

148360

UMLS symptoms related to Keratoderma, Palmoplantar, with Nail Dystrophy and Hereditary Motor-Sensory Neuropathy:


muscle spasticity

Drugs & Therapeutics for Keratoderma, Palmoplantar, with Nail Dystrophy and Hereditary...

Search Clinical Trials , NIH Clinical Center for Keratoderma, Palmoplantar, with Nail Dystrophy and Hereditary Motor-Sensory Neuropathy

Genetic Tests for Keratoderma, Palmoplantar, with Nail Dystrophy and Hereditary...

Anatomical Context for Keratoderma, Palmoplantar, with Nail Dystrophy and Hereditary...

MalaCards organs/tissues related to Keratoderma, Palmoplantar, with Nail Dystrophy and Hereditary Motor-Sensory Neuropathy:

40
Skin

Publications for Keratoderma, Palmoplantar, with Nail Dystrophy and Hereditary...

Articles related to Keratoderma, Palmoplantar, with Nail Dystrophy and Hereditary Motor-Sensory Neuropathy:

(showing 3, show less)
# Title Authors PMID Year
1
Palmoplantar keratoderma, nail dystrophy, and hereditary motor and sensory neuropathy: an autosomal dominant trait. 56
2976839 1988
2
Keratoderma and spastic paralysis. 56
6227331 1983
3
Palmoplantar keratoderma and Charcot-Marie-Tooth disease. 56
6446889 1980

Variations for Keratoderma, Palmoplantar, with Nail Dystrophy and Hereditary...

Expression for Keratoderma, Palmoplantar, with Nail Dystrophy and Hereditary...

Search GEO for disease gene expression data for Keratoderma, Palmoplantar, with Nail Dystrophy and Hereditary Motor-Sensory Neuropathy.

Pathways for Keratoderma, Palmoplantar, with Nail Dystrophy and Hereditary...

GO Terms for Keratoderma, Palmoplantar, with Nail Dystrophy and Hereditary...

Sources for Keratoderma, Palmoplantar, with Nail Dystrophy and Hereditary...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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