Dejerine-Sottas syndrome
Synonyms: Charcot-Marie-Tooth disease type 3 · HMSN 3 · HMSN III · Hereditary motor and sensory neuropathy type 3 · Hereditary motor and sensory neuropathy type III
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive, Not applicable
- Age of onset
- Infancy
- Status
- active
A clinical entity that represents a severe phenotype of Charcot-Marie-Tooth disease characterized by onset occurring in infancy, severe motor weakness, delayed motor development, extremely slow nerve conduction (< 10-12 m/s), areflexia and foot deformity. Mutations in the genes <i>PMP22</i> (17p12), <i>MPZ</i> (1q22), <i>EGR2</i> (10q21.1) and <i>PRX</i> (19q13.2) have been implicated.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Dejerine-Sottas syndrome | Charcot-Marie-Tooth disease type 3 · HMSN 3 · HMSN III · Hereditary motor and sensory neuropathy type 3 · Hereditary motor and sensory neuropathy type III |
| fr | Syndrome de Dejerine-Sottas | HMSN 3 · HMSN III · Maladie de Charcot-Marie-Tooth type 3 · Neuropathie sensitivo-motrice héréditaire type 3 · Neuropathie sensitivo-motrice héréditaire type III |
| de | Dejerine-Sottas-Syndrom | Charcot-Marie-Tooth-Krankheit Typ 3 · HMSN III · HMSN3 · Neuropathie, hereditäre motorisch-sensorische, Typ 3 |
| es | Síndrome de Dejerine-Sottas | Enfermedad de Charcot-Marie-Tooth tipo 3 · HMSN 3 · HMSN III · Neuropatía hereditaria sensitivo-motora tipo 3 · Neuropatía hereditaria sensitivo-motora tipo III |
| it | Sindrome di Dejerine-Sottas | HMSN 3 · HMSN III · Malattia di Charcot-Marie-Tooth, tipo 3 · Neuropatia sensitivo-motoria ereditaria, tipo 3 · Neuropatia sensitivo-motoria ereditaria, tipo III |
| nl | Syndroom van Dejerine-Sottas | Erfelijke motorische en sensorische neuropathie type 3 · Erfelijke motorische en sensorische neuropathie type III · HMSN 3 · HMSN III · Ziekte van Charcot-Marie-Tooth type 3 |
| pt | Síndrome de Dejerine-Sottas | Neuropatia hipertrófica da infância · Neuropatia motora e sensitiva hereditária tipo 3 (HMSN 3) |
| pl | Zespół Dejerine'a i Sottasa | Choroba Charcot, Marie i Tooth typu 3 · Hereditary motor and sensory neuropathy type 3 · HMSN 3 · Hypertrophic neuropathy of infancy |
| cs | Dejerine-Sottasův syndrom | Charcotova-Marieova-Toothova nemoc, typ 3 · HMSN 3 · HMSN III · Hereditární motorická a sensorická neuropatie, typ 3 · Hereditární motorická a sensorická neuropatie, typ III · Charcot-Marie-Toothova nemoc, typ 3 |
| uk | Синдром Дежеріна-Соттаса | Хвороба Шарко-Марі-Тута тип 3 · Спадкова моторна та сенсорна нейропатія типу 3 · Спадкова моторна та сенсорна нейропатія III типу · HMSN 3 · HMSN III |
| zh | Dejerine-Sottas综合征 | 遗传性运动感觉神经病III型 |
| tr | Dejerine-Sottas sendromu | HMSN 3 · HMSN III · Charcot-Marie-Tooth hastalığı tip 3 · Kalıtsal motor ve duyusal nöropati tip 3 · Kalıtsal motor ve duyusal nöropati tip III |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 145900 | E | validated | |
| OMIM | 618184 | NTBT | validated | |
| ICD-10 | G60.0 | NTBT | attributed | validated |
| ICD-11 | 8C20.Y | NTBT | index | validated |
| MONDO | 0007790 | E | validated | |
| UMLS | C0011195 | E | validated | |
| GARD | 9204 | 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:140453Autosomal dominant hereditary demyelinating motor and sensory neuropathy
rare genetic diseases; rare neurological diseases - ORPHA:140459Autosomal recessive hereditary demyelinating motor and sensory neuropathy
rare genetic diseases; rare neurological diseases
No children.
Genes
4 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PRX | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:13797 | ENSG00000105227 | 605725 | 19q13.2 | periaxin | 11133365[PMID] |
| EGR2 | Disease-causing germline mutation(s) in | Assessed | HGNC:3239 | ENSG00000122877 | 129010 | 10q21.3 | early growth response 2 | 11523566[PMID] |
| MPZ | Disease-causing germline mutation(s) in | Assessed | HGNC:7225 | ENSG00000158887 | 159440 | 1q23.3 | myelin protein zero | 8816708[PMID]_12242557[PMID] |
| PMP22 | Disease-causing germline mutation(s) in | Assessed | HGNC:9118 | ENSG00000109099 | 601097 | 17p12 | peripheral myelin protein 22 | 18698610[PMID]_12090401[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_12090401[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/64748
- This record as JSON: /data/d/64748.json