Charcot-Marie-Tooth disease type 4H
Synonyms: CMT4H
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy
- Status
- active
A form of Charcot-Marie-Tooth disease type 4 characterized by onset before two years of age of severe, slowly progressive, demyelinating sensorimotor neuropathy manifesting with delayed motor development (walking), unsteady gait, distal muscle weakness and atrophy (more prominent in the lower limbs), areflexia, mild symmetrical stocking-distribution hypoesthesia, and skeletal malformations (incl. kyphoscoliosis, short neck, pes cavus and pes equinus). Some patients have thenar and hypothenar hypoplasia. Severely reduced nerve conduction velocities are associated.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Charcot-Marie-Tooth disease type 4H | CMT4H |
| fr | Maladie de Charcot-Marie-Tooth type 4H | = en |
| de | Charcot-Marie-Tooth-Krankheit Typ 4H | = en |
| es | Enfermedad de Charcot-Marie-Tooth tipo 4H | |
| it | Malattia di Charcot-Marie-Tooth, tipo 4H | = en |
| nl | Ziekte van Charcot-Marie-Tooth type 4H | = en |
| pt | Doença de Charcot-Marie-Tooth tipo 4H | |
| pl | Choroba Charcota, Mariego i Tootha typu 4H | = en |
| cs | Charcotova-Marieova-Toothova nemoc, typ 4H | CMT4H · Charcot-Marie-Toothova nemoc, typ 4H |
| uk | Хвороба Шарко-Марі-Тута, тип 4H | = en |
| zh | 腓骨肌萎缩症4H型 | = en |
| tr | Charcot-Marie-Tooth hastalığı tip 4H | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 609311 | E | validated | |
| ICD-10 | G60.0 | NTBT | attributed | validated |
| ICD-11 | 8C20.0 | NTBT | index | validated |
| MONDO | 0012250 | E | validated | |
| MeSH | C563740 | E | validated | |
| UMLS | C1836336 | 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 |
|---|---|---|---|---|---|---|---|---|
| FGD4 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:19125 | ENSG00000139132 | 611104 | 12p11.21 | FYVE, RhoGEF and PH domain containing 4 | 23926620[PMID]_20301641[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 15 cases | Worldwide | Case(s) | Validated | 23770104[PMID]_26400421[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_23770104[PMID]_26400421[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/99954
- This record as JSON: /data/d/99954.json