Charcot-Marie-Tooth disease type 1F
Synonyms: CMT1F
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood, Infancy
- Status
- active
Charcot-Marie-Tooth disease type 1F (CMT1F) is a form of CMT1, with a variable clinical presentation that can range from severe impairment with onset in childhood to mild impairment appearing during adulthood. CMT1F is characterized by a progressive peripheral motor and sensory neuropathy with distal paresis in the lower limbs that varies from mild weakness to complete paralysis of the distal muscle groups, absent tendon reflexes and reduced nerve conduction. CMT1F represents the ''demyelinating'' form of CMT2E and is caused by mutations in the <i>NEFL</i> gene (8p21.2).
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Charcot-Marie-Tooth disease type 1F | CMT1F |
| fr | Maladie de Charcot-Marie-Tooth type 1F | = en |
| de | Charcot-Marie-Tooth-Krankheit Typ 1F | = en |
| es | Enfermedad de Charcot-Marie-Tooth tipo 1F | |
| it | Malattia di Charcot-Marie-Tooth, tipo 1F | = en |
| nl | Ziekte van Charcot-Marie-Tooth type 1F | = en |
| pt | Doença de Charcot-Marie-Tooth tipo 1F | |
| pl | Choroba Charcota, Mariego i Tootha typu 1F | = en |
| cs | Charcotova-Marieova-Toothova nemoc, typ 1F | CMT1F · Charcot-Marie-Toothova nemoc, typ 1F |
| uk | Хвороба Шарко-Марі-Тута, тип 1F | = en |
| zh | 夏科-马里-图斯病1F型 | = en |
| tr | Charcot-Marie-Tooth hastalığı tip 1F | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 607734 | NTBT | validated | |
| ICD-10 | G60.0 | NTBT | attributed | validated |
| ICD-11 | 8C20.0 | NTBT | index | validated |
| MONDO | 0011902 | E | validated | |
| MeSH | C537987 | E | validated | |
| UMLS | C1843164 | 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 (1):
- ORPHA:65753Charcot-Marie-Tooth disease type 1
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| NEFL | Disease-causing germline mutation(s) in | Assessed | HGNC:7739 | ENSG00000277586 | 162280 | 8p21.2 | neurofilament light chain | 20301384[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | ORPHANET_20301366[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
50 annotations · validated 2021-03-09| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000762 | Decreased nerve conduction velocity | |
| HP:0007220 | Demyelinating motor neuropathy | |
| HP:0011402 | Demyelinating sensory neuropathy | |
| HP:0002460 | Distal muscle weakness | |
| HP:0007141 | Sensorimotor neuropathy | |
| HP:0003202 | Skeletal muscle atrophy | |
| HP:0003474 | Somatic sensory dysfunction | |
| Frequent (79-30%) | ||
| HP:0001155 | Abnormality of the hand | |
| HP:0004463 | Absent brainstem auditory responses | |
| HP:0001284 | Areflexia | |
| HP:0010873 | Cervical spinal cord atrophy | |
| HP:0003387 | Decreased number of large peripheral myelinated nerve fibers | |
| HP:0008944 | Distal lower limb amyotrophy | |
| HP:0009053 | Distal lower limb muscle weakness | |
| HP:0007149 | Distal upper limb amyotrophy | |
| HP:0009027 | Foot dorsiflexor weakness | |
| HP:0002066 | Gait ataxia | |
| HP:0009130 | Hand muscle atrophy | |
| HP:0030237 | Hand muscle weakness | |
| HP:0002378 | Hand tremor | |
| HP:0002346 | Head tremor | |
| HP:0007328 | Impaired pain sensation | |
| HP:0010831 | Impaired proprioception | |
| HP:0002495 | Impaired vibratory sensation | |
| HP:0002070 | Limb ataxia | |
| HP:0007327 | Mixed demyelinating and axonal polyneuropathy | |
| HP:0001270 | Motor delay | |
| HP:0001761 | Pes cavus | |
| HP:0002403 | Positive Romberg sign | |
| HP:0003376 | Steppage gait | |
| HP:0002317 | Unsteady gait | |
| Occasional (29-5%) | ||
| HP:0100543 | Cognitive impairment | |
| HP:0001260 | Dysarthria | |
| HP:0002380 | Fasciculations | |
| HP:0012785 | Flexion contracture of finger | |
| HP:0001252 | Hypotonia | |
| HP:0003394 | Muscle spasm | |
| HP:0000609 | Optic nerve hypoplasia | |
| HP:0003401 | Paresthesia | |
| HP:0008956 | Proximal lower limb amyotrophy | |
| HP:0008994 | Proximal muscle weakness in lower limbs | |
| HP:0008997 | Proximal muscle weakness in upper limbs | |
| HP:0012452 | Restless legs | |
| HP:0003691 | Scapular winging | |
| HP:0002650 | Scoliosis | |
| HP:0000407 | Sensorineural hearing impairment | |
| HP:0012473 | Tongue atrophy | |
| HP:0000020 | Urinary incontinence | |
| HP:0030319 | Weakness of facial musculature | |
| Very rare (<4-1%) | ||
| HP:0002540 | Inability to walk | |
Run the differential on the 7 obligate / very frequent terms
Annotation source: 27088055[PMID]_20301532[PMID]_28501821[PMID]_31574566[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/101085
- This record as JSON: /data/d/101085.json