Palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome
Synonyms: Palmoplantar keratoderma-Charcot-Marie-Tooth syndrome
- Type
- Disease
- Group
- Disorder
- Age of onset
- Childhood, Infancy, Neonatal
- Status
- active
A rare, genetic, autosomal dominant hereditary axonal motor and sensory neuropathy disorder characterized by childhood-onset palmoplantar keratoderma associated with motor and sensory polyneuropathy manifestating with late-onset, predominantly distal, lower limb muscle weakness and atrophy (later associating mild proximal weakness and upper limb involvement), moderate sensory impairment (hypoesthesia with stocking-glove distribution), and normal or near‐normal nerve conduction velocities. Additional variable manifestations include impaired vibratory sensation, reduced tendon reflexes, paresthesia, pain, talipes equinovarus, pes cavus, and nail dystrophy.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome | Palmoplantar keratoderma-Charcot-Marie-Tooth syndrome |
| fr | Syndrome de kératodermie palmoplantaire-neuropathie sensitivomotrice héréditaire | Syndrome de kératodermie palmoplantaire-Charcot-Marie-Tooth |
| de | Palmoplantarkeratose-HMNS-Syndrom | Palmoplantarkeratose-Charcot-Marie-Tooth-Syndrom |
| es | Síndrome de queratodermia palmoplantar-neuropatía sensitivo-motora hereditaria | Síndrome de queratodermia palmoplantar-Charcot-Marie-Tooth |
| it | Sindrome da cheratoderma palmoplantare-neuropatia sensoriale e motoria | |
| nl | Palmoplantaire keratodermie - erfelijke motorische en sensorische neuropathie-syndroom | Palmoplantaire keratodermie - Charcot-Marie-Tooth-syndroom |
| pt | Síndrome de queratodermia palmoplantar-neuropatia sensitiva e motora hereditária | |
| pl | Zespół rogowca dłoni i stóp i dziedzicznej neuropatii czuciowej i ruchowej | = en |
| cs | Syndrom zahrnující palmoplantární keratodermu a hereditární motorickou a senzorickou neuropatii | Syndrom zahrnující palmoplantární keratodermu a Charcot-Marie-Toothovu chorobu |
| uk | Синдром долонно-підошовної кератодермії-спадкової моторної та сенсорної нейропатії | Синдром долонно-підошовної кератодермії-Шарко-Марі-Тута |
| zh | 掌跖皮肤角皮病-遗传性运动和感觉性神经病综合征 | 掌跖皮肤角皮病-夏科-马里-图斯病综合征 |
| tr | Palmoplantar keratoderma-kalıtsal motor ve duyusal nöropati sendromu | Palmoplantar keratoderma-Charcot-Marie-Tooth sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 148360 | E | validated | |
| ICD-10 | G60.0 | NTBT | attributed | validated |
| MONDO | 0007853 | E | validated | |
| UMLS | C1835671 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:98352Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature
rare genetic diseases; rare skin diseases - ORPHA:140456Autosomal dominant hereditary axonal motor and sensory neuropathy
rare genetic diseases; rare neurological diseases
No children.
Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| KRT1 | Modifying germline mutation in | Assessed | HGNC:6412 | ENSG00000167768 | 139350 | 12q13.13 | keratin 1 | 27639257[PMID] |
| MPZ | Modifying germline mutation in | Assessed | HGNC:7225 | ENSG00000158887 | 159440 | 1q23.3 | myelin protein zero | 27639257[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 23 cases | Worldwide | Case(s) | Validated | 6446889[PMID]_2976839[PMID]_27639257[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_6446889[PMID]_2976839[PMID]_27639257[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/538574
- This record as JSON: /data/d/538574.json