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 20
Charcot-Marie-Tooth Disease with Palmoplantar Keratoderma and Nail Dystrophy 57 20
Palmoplantar Keratoderma-Spastic Paralysis Syndrome 20 58
Axonal Neuropathy with Palmoplantar Keratoderma 57 20
Keratoderma Palmoplantar Spastic Paralysis 20 70
Powell-Venencie-Gordon Syndrome 20 58
Palmoplantar Keratoderma-Hereditary Motor and Sensory Neuropathy Syndrome 58
Palmoplantar Hyperkeratosis-Spastic Paralysis Syndrome 58
Palmoplantar Keratoderma-Charcot-Marie-Tooth Syndrome 58
Powell Venencie Gordon Syndrome 70

Characteristics:

Orphanet epidemiological data:

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

OMIM®:

57 (Updated 05-Apr-2021)
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® 57 148360
MESH via Orphanet 45 C536153
UMLS via Orphanet 71 C1835671 C2931828
MedGen 41 C1835671
UMLS 70 C1835671 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 tooth disease and 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). Related phenotypes are gait disturbance and palmoplantar keratoderma

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 tooth disease 9.6 MPZ KRT1
2 charcot-marie-tooth disease 9.5 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 (show all 16)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 gait disturbance 58 31 hallmark (90%) Very frequent (99-80%) HP:0001288
2 palmoplantar keratoderma 58 31 hallmark (90%) Very frequent (99-80%) HP:0000982
3 abnormal fingernail morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0001231
4 emg abnormality 58 31 hallmark (90%) Very frequent (99-80%) HP:0003457
5 pes cavus 58 31 hallmark (90%) Very frequent (99-80%) HP:0001761
6 abnormal toenail morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0008388
7 muscle flaccidity 58 31 hallmark (90%) Very frequent (99-80%) HP:0010547
8 pain insensitivity 58 31 hallmark (90%) Very frequent (99-80%) HP:0007021
9 spasticity 58 31 frequent (33%) Frequent (79-30%) HP:0001257
10 hemiplegia 58 31 frequent (33%) Frequent (79-30%) HP:0002301
11 peripheral neuropathy 58 Very frequent (99-80%)
12 nail dysplasia 31 HP:0002164
13 thickened skin 58 Very frequent (99-80%)
14 nail dystrophy 31 HP:0008404
15 motor axonal neuropathy 31 HP:0007002
16 sensory axonal neuropathy 31 HP:0003390

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Skin:
palmoplantar keratoderma

Nails:
nail dystrophy

Misc:
congenital or early childhood onset of nail dystrophy

Limbs:
pes cavus

Neuro:
motor and sensory neuropathy

Lab:
electrophysiologic evidence of axonal neuropathy

Clinical features from OMIM®:

148360 (Updated 05-Apr-2021)

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...

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. 57
2976839 1988
2
Keratoderma and spastic paralysis. 57
6227331 1983
3
Palmoplantar keratoderma and Charcot-Marie-Tooth disease. 57
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
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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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