Charcot-Marie-Tooth disease type 4B2
Synonyms: CMT4B2
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood
- Status
- active
A form of Charcot-Marie-Tooth disease type 4 characterized by a severe, early childhood-onset of demyelinating sensorimotor neuropathy, early-onset glaucoma, focally folded myelin sheaths in the peripheral nerves, severely reduced nerve conduction velocities, and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, sensory loss, absence of deep tendon reflexes, and frequent pes cavus). Severe visual impairment leading to visual loss, usually associated with glaucoma, and vocal cord paresis, has also been reported.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Charcot-Marie-Tooth disease type 4B2 | CMT4B2 |
| fr | Maladie de Charcot-Marie-Tooth type 4B2 | = en |
| de | Charcot-Marie-Tooth-Krankheit Typ 4B2 | = en |
| es | Enfermedad de Charcot-Marie-Tooth tipo 4B2 | |
| it | Malattia di Charcot-Marie-Tooth, tipo 4B2 | = en |
| nl | Ziekte van Charcot-Marie-Tooth type 4B2 | = en |
| pt | Doença de Charcot-Marie-Tooth tipo 4B2 | |
| pl | Choroba Charcota, Mariego i Tootha typu 4B2 | = en |
| cs | Charcotova-Marieova-Toothova nemoc, typ 4B2 | CMT4B2 · Charcot-Marie-Toothova nemoc, typ 4B2 |
| uk | Хвороба Шарко-Марі-Тута, тип 4B2 | = en |
| zh | 腓骨肌萎缩症4B2型 | = en |
| tr | Charcot-Marie-Tooth hastalığı tip 4B2 | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 604563 | E | validated | |
| ICD-10 | G60.0 | NTBT | attributed | validated |
| ICD-11 | 8C20.0 | NTBT | index | validated |
| MONDO | 0011475 | E | validated | |
| MeSH | C535421 | E | validated | |
| UMLS | C1858278 | E | validated | |
| GARD | 9200 | 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:64749Charcot-Marie-Tooth disease type 4
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SBF2 | Disease-causing germline mutation(s) in | Assessed | HGNC:2135 | ENSG00000133812 | 607697 | 11p15.4 | SET binding factor 2 | 20301641[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
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
40 annotations · validated 2021-10-28| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001760 | Abnormal foot morphology | |
| HP:0002522 | Areflexia of lower limbs | |
| HP:0007230 | Decreased distal sensory nerve action potential | |
| HP:0009053 | Distal lower limb muscle weakness | |
| HP:0008959 | Distal upper limb muscle weakness | |
| HP:0001288 | Gait disturbance | |
| HP:0007340 | Lower limb muscle weakness | |
| HP:0004336 | Myelin outfoldings | |
| HP:0007010 | Poor fine motor coordination | |
| Frequent (79-30%) | ||
| HP:0012046 | Areflexia of upper limbs | |
| HP:0002936 | Distal sensory impairment | |
| HP:0001618 | Dysphonia | |
| HP:0000501 | Glaucoma | |
| HP:0002751 | Kyphoscoliosis | |
| HP:0001761 | Pes cavus | |
| HP:0008994 | Proximal muscle weakness in lower limbs | |
| HP:0002650 | Scoliosis | |
| HP:0001605 | Vocal cord paralysis | |
| Occasional (29-5%) | ||
| HP:0000729 | Autistic behavior | |
| HP:0000557 | Buphthalmos | |
| HP:0000518 | Cataract | |
| HP:0001087 | Developmental glaucoma | |
| HP:0030237 | Hand muscle weakness | |
| HP:0002540 | Inability to walk | |
| HP:0001270 | Motor delay | |
| HP:0000648 | Optic atrophy | |
| HP:0003401 | Paresthesia | |
| HP:0001026 | Penetrating foot ulcers | |
| HP:0001763 | Pes planus | |
| HP:0008997 | Proximal muscle weakness in upper limbs | |
| HP:0000508 | Ptosis | |
| HP:0002792 | Reduced vital capacity | |
| HP:0002093 | Respiratory insufficiency | |
| HP:0000407 | Sensorineural hearing impairment | |
| HP:0001328 | Specific learning disability | |
| HP:0030051 | Tip-toe gait | |
| HP:0012473 | Tongue atrophy | |
| HP:0000183 | Tongue muscle weakness | |
| HP:0001337 | Tremor | |
| HP:0030319 | Weakness of facial musculature | |
Run the differential on the 9 obligate / very frequent terms
Annotation source: 31070812[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/99956
- This record as JSON: /data/d/99956.json