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 57
Charcot-Marie-Tooth Disease with Palmoplantar Keratoderma and Nail Dystrophy 57
Palmoplantar Keratoderma-Hereditary Motor and Sensory Neuropathy Syndrome 59
Palmoplantar Hyperkeratosis-Spastic Paralysis Syndrome 59
Palmoplantar Keratoderma-Charcot-Marie-Tooth Syndrome 59
Palmoplantar Keratoderma-Spastic Paralysis Syndrome 59
Axonal Neuropathy with Palmoplantar Keratoderma 57
Powell-Venencie-Gordon Syndrome 59
Powell Venencie Gordon Syndrome 72

Characteristics:

Orphanet epidemiological data:

59
palmoplantar keratoderma-spastic paralysis syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages;

OMIM:

57
Inheritance:
heterogeneous
autosomal dominant


HPO:

32
keratoderma, palmoplantar, with nail dystrophy and hereditary motor-sensory neuropathy:
Inheritance autosomal dominant inheritance heterogeneous


Classifications:



External Ids:

OMIM 57 148360
MESH via Orphanet 45 C536153
UMLS via Orphanet 73 C1835671 C2931828
MedGen 42 C1835671
UMLS 72 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 keratoderma palmoplantar spastic paralysis, 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:

# Related Disease Score Top Affiliating Genes
1 keratoderma palmoplantar spastic paralysis 11.9

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

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

59 32 (show all 17)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 gait disturbance 59 32 hallmark (90%) Very frequent (99-80%) HP:0001288
2 emg abnormality 59 32 hallmark (90%) Very frequent (99-80%) HP:0003457
3 palmoplantar keratoderma 59 32 hallmark (90%) Very frequent (99-80%) HP:0000982
4 pes cavus 59 32 hallmark (90%) Very frequent (99-80%) HP:0001761
5 abnormal toenail morphology 59 32 hallmark (90%) Very frequent (99-80%) HP:0008388
6 muscle flaccidity 59 32 hallmark (90%) Very frequent (99-80%) HP:0010547
7 pain insensitivity 59 32 hallmark (90%) Very frequent (99-80%) HP:0007021
8 abnormal fingernail morphology 32 hallmark (90%) HP:0001231
9 spasticity 59 32 frequent (33%) Frequent (79-30%) HP:0001257
10 hemiplegia 59 32 frequent (33%) Frequent (79-30%) HP:0002301
11 motor axonal neuropathy 32 HP:0007002
12 nail dystrophy 32 HP:0008404
13 peripheral neuropathy 59 Very frequent (99-80%)
14 thickened skin 59 Very frequent (99-80%)
15 abnormality of the fingernails 59 Very frequent (99-80%)
16 sensory axonal neuropathy 32 HP:0003390
17 nail dysplasia 32 HP:0002164

Symptoms via clinical synopsis from OMIM:

57
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:

41
Skin

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

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

# Title Authors PMID Year
1
Palmoplantar keratoderma, nail dystrophy, and hereditary motor and sensory neuropathy: an autosomal dominant trait. 8
2976839 1988
2
Keratoderma and spastic paralysis. 8
6227331 1983
3
Palmoplantar keratoderma and Charcot-Marie-Tooth disease. 8
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...

Molecular functions related to Keratoderma, Palmoplantar, with Nail Dystrophy and Hereditary Motor-Sensory Neuropathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 structural molecule activity GO:0005198 8.32 MPZ

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 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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