Keratoderma, Palmoplantar, with Nail Dystrophy and Hereditary Motor-Sensory Neuropathy disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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

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

Keratoderma Palmoplantar Spastic Paralysis ²⁰

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®:

⁵⁷ (Updated 05-Mar-2021)

Inheritance:
heterogeneous
autosomal dominant

HPO:

³¹

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

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Neuronal diseases Skin diseases

See all MalaCards categories (disease lists)

Orphanet: ⁵⁸

Rare neurological diseases

Rare skin diseases

External Ids:

OMIM® ⁵⁷ 148360

MESH via Orphanet ⁴⁵ C536153

UMLS via Orphanet ⁷² C1835671 C2931828

Orphanet ⁵⁸ ORPHA2201 ORPHA538574

MedGen ⁴¹ C1835671

SNOMED-CT via HPO ⁶⁸ 186611004 205091006 221360009 more

UMLS ⁷¹ C2931828

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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

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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

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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-Mar-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-Mar-2021)

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

muscle spasticity

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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

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

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

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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	Tolmie JL...Stephenson JB	2976839	1988
2	Keratoderma and spastic paralysis. ⁵⁷	Powell FC...Winkelmann RK	6227331	1983
3	Palmoplantar keratoderma and Charcot-Marie-Tooth disease. ⁵⁷	Rabbiosi G...Cosi V	6446889	1980

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

Genes related to Keratoderma, Palmoplantar, with Nail Dystrophy and Hereditary Motor-Sensory Neuropathy (2 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	KRT1	Keratin 1	Protein Coding	25	Modifying germline mutation ⁵⁸
2	MPZ	Myelin Protein Zero	Protein Coding	25	Modifying germline mutation ⁵⁸

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

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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.

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

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

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

¹ BioSystems

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⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 05-Mar-2021)

⁵⁸ Orphanet

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⁷⁴ Wikipedia