ORPHA:90103
Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome
Synonyms: CMT-deafness-intellectual disability syndrome · Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome · Hereditary motor and sensory neuropathy with deafness, intellectual disability and absent sensory large myelinated fibers · Hereditary motor and sensory neuropathy with hearing loss, intellectual disability and absent sensory large myelinated fibers
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy
- Status
- active
Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome is a rare demyelinating hereditary motor and sensory neuropathy characterized by early-onset, slowly progressive, distal muscular weakness and atrophy with no sensory impairment, congenital sensorineural deafness and mild intellectual disability (with absence of normal speech development). The absence of large myelinated fibers on sural nerve biopsy is equally characteristic of the disease.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome | CMT-deafness-intellectual disability syndrome · Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome · Hereditary motor and sensory neuropathy with deafness, intellectual disability and absent sensory large myelinated fibers · Hereditary motor and sensory neuropathy with hearing loss, intellectual disability and absent sensory large myelinated fibers |
| fr | Syndrome de maladie de Charcot-Marie-Tooth-surdité-déficience intellectuelle | Neuropathie héréditaire avec surdité, déficience intellectuelle et absence de fibres sensitives myélinisées de gros calibre |
| de | Charcot-Marie-Tooth-Krankheit-Schwerhörigkeit-Intelligenzminderung-Syndrom | Charcot-Marie-Tooth-Krankheit-Hörverlust-Intelligenzminderung-Syndrom · HMNS mit Taubheit, Intelligenzminderung und fehlenden sensiblen großen markhaltigen Nervenfasern · Hereditäre motorische und sensorische Neuropathie mit Taubheit, Intelligenzminderung und fehlenden sensorischen markhaltigen Fasern |
| es | Síndrome de enfermedad de Charcot-Marie-Tooth-sordera-discapacidad intelectual | Neuropatía sensitivo-motora hereditaria con hipoacusia, discapacidad intelectual y ausencia de fibras sensitivas mielinizadas de gran calibre · Neuropatía sensitivo-motora hereditaria con sordera, discapacidad intelectual y ausencia de fibras sensitivas mielinizadas de gran calibre · Síndrome de CMT-sordera-discapacidad intelectual · Síndrome de Charcot-Marie-Tooth-hipoacusia-discapacidad intelectual · Síndrome de enfermedad de Charcot-Marie-Tooth-hipoacusia-discapacidad intelectual |
| it | Sindrome malattia di Charcot-Marie-Tooth-sordità-disabilità intellettiva | Neuropatia motoria e sensitiva ereditaria associata a sordità, disabilità intellettiva e assenza di fibre mielinizzate sensitive di grandi dimensioni · Neuropatia motoria e sensitiva ereditaria associata a sordità, ritardo mentale e assenza di fibre mielinizzate sensitive di grandi dimensioni · Sindrome CMT-sordità-disabilità intellettiva · Sindrome malattia Charcot-Marie-Tooth-sordità-disabilità intellettiva |
| nl | Ziekte van Charcot-Marie-Tooth - doofheid - intellectuele achterstand-syndroom | CMT - doofheid - intellectuele achterstand-syndroom · Hereditaire motorische en sensorische neuropathie met doofheid, intellectuele achterstand en afwezige sensorische grote gemyeliniseerde vezels · Hereditaire motorische en sensorische neuropathie met gehoorverlies, intellectuele achterstand en afwezige sensorische grote gemyeliniseerde vezels · Ziekte van Charcot-Marie-Tooth - gehoorverlies - intellectuele achterstand-syndroom |
| pt | Síndrome da doença de Charcot-Marie-Tooth-surdez-perturbação do desenvolvimento intelectual | Doença de Charcot-Marie-Tooth-perda auditiva-perturbação do desenvolvimento intelectual · Neuropatia motora e sensorial hereditária com perda auditiva,perturbação do desenvolvimento intelectual e ausência de largas fibras mielinizadas sensoriais · Neuropatia motora e sensorial hereditária com surdez,perturbação do desenvolvimento intelectual e ausência de largas fibras mielinizadas sensoriais · Síndrome CMT-surdez-perturbação do desenvolvimento intelectual |
| pl | Choroba Charcota, Mariego i Tootha - głuchota - niepełnosprawność intelektualna | Dziedziczna neuropatia ruchowa i czuciowa z głuchotą, niepełnosprawnością intelektualną oraz brakiem dużych włókien mielinowych |
| cs | Syndrom zahrnující Charcotovu-Marieovu-Toothovu nemoc, hluchotu a mentální retardaci | Hereditární motorická a senzorická neuropatie s hluchotou, mentální retardací a absencí velkých senzorických myelinizovaných vláken · Syndrom zahrnující Charcot-Marie-Toothovu nemoc, hluchotu a mentální retardaci |
| uk | Синдром хвороби Шарко-Марі-Тута- глухоти-інтелектуальної недостатності | Синдром хвороби Шарко-Марі-Тута - втрати слуху - інтелектуальної недостатності · Синдром ШМТ-глухоти-інтелектуальної недостатності · Спадкова моторна та сенсорна нейропатія з глухотою, інтелектуальною недостатністю та відсутністю сенсорних великих мієлінових волокон · Спадкова моторна та сенсорна нейропатія з втратою слуху, інтелектуальною недостатністю та відсутністю сенсорних великих мієлінових волокон |
| zh | 腓骨肌萎缩症-耳聋-智力残疾综合征 | 遗传性运动感觉性神经病伴听力丧失、智力障碍及有髓感觉神经纤维缺失 |
| tr | Charcot-Marie-Tooth hastalığı-sağırlık-zihinsel yetersizlik sendromu | Charcot-Marie-Tooth hastalığı-işitme kaybı-zihinsel yetersizlik sendromu · Sağırlık, zihinsel yetersizlik ve duyusal büyük miyelinli liflerin yokluğu ile seyreden kalıtsal motor ve duyusal nöropati · İşitme kaybı, zihinsel yetersizlik ve duyusal büyük miyelinli liflerin yokluğu ile seyreden kalıtsal motor ve duyusal nöropati |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 214370 | E | validated | |
| ICD-10 | G60.0 | NTBT | attributed | validated |
| ICD-11 | 8C20.Y | NTBT | attributed | validated |
| MONDO | 0008960 | E | validated | |
| UMLS | C4706301 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:140459Autosomal recessive hereditary demyelinating motor and sensory neuropathy
rare genetic diseases; rare neurological diseases - ORPHA:90642Rare syndromic genetic deafness
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases
No children.
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 7 cases | Worldwide | Case(s) | Validated | 9475604[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_9475604[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.
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HPO phenotypes
30 annotations · validated 2019-04-02| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0007078 | Decreased amplitude of sensory action potentials | |
| HP:0000762 | Decreased nerve conduction velocity | |
| HP:0003387 | Decreased number of large peripheral myelinated nerve fibers | |
| HP:0001256 | Intellectual disability, mild | |
| HP:0007210 | Lower limb amyotrophy | |
| HP:0007141 | Sensorimotor neuropathy | |
| HP:0008625 | Severe sensorineural hearing impairment | |
| Frequent (79-30%) | ||
| HP:0003134 | Abnormality of peripheral nerve conduction | |
| HP:0003438 | Absent Achilles reflex | |
| HP:0001344 | Absent speech | |
| HP:0009031 | Amyotrophy of ankle musculature | |
| HP:0002522 | Areflexia of lower limbs | |
| HP:0008962 | Calf muscle hypoplasia | |
| HP:0008944 | Distal lower limb amyotrophy | |
| HP:0009053 | Distal lower limb muscle weakness | |
| HP:0003409 | Distal sensory impairment of all modalities | |
| HP:0008959 | Distal upper limb muscle weakness | |
| HP:0001260 | Dysarthria | |
| HP:0001531 | Failure to thrive in infancy | |
| HP:0009027 | Foot dorsiflexor weakness | |
| HP:0002066 | Gait ataxia | |
| HP:0001263 | Global developmental delay | |
| HP:0006938 | Impaired vibration sensation at ankles | |
| HP:0008954 | Intrinsic hand muscle atrophy | |
| HP:0001761 | Pes cavus | |
| HP:0009129 | Upper limb amyotrophy | |
| Occasional (29-5%) | ||
| HP:0012046 | Areflexia of upper limbs | |
| HP:0012531 | Pain | |
| HP:0002093 | Respiratory insufficiency | |
| Excluded (0%) | ||
| HP:0040078 | Axonal degeneration | |
Run the differential on the 7 obligate / very frequent terms
Annotation source: 9591228[PMID]_6705250[PMID]_11231025[PMID]_8585809[PMID]_9475604[PMID]_20301532[PMID]_24434692[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/90103
- This record as JSON: /data/d/90103.json