ORPHA:101097
Autosomal recessive Charcot-Marie-Tooth disease with hoarseness
Synonyms: ARCMT2K · Autosomal recessive axonal CMT4C4 · Autosomal recessive axonal Charcot-Marie-Tooth disease type 2K
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A severe, early-onset form of axonal CMT peripheral sensorimotor polyneuropathy.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal recessive Charcot-Marie-Tooth disease with hoarseness | ARCMT2K · Autosomal recessive axonal CMT4C4 · Autosomal recessive axonal Charcot-Marie-Tooth disease type 2K |
| fr | Maladie de Charcot-Marie-Tooth autosomique récessive avec raucité de la voix | ARCMT2K · CMT4C4 axonale autosomique récessive · Maladie de Charcot-Marie-Tooth axonale autosomique récessive type 2K |
| de | Charcot-Marie-Tooth-Krankheit, autosomal-rezessive, mit Heiserkeit | ARCMT2K · CMT4C4 · Charcot-Marie-Tooth-Krankheit, autosomal-rezessive, Typ 2K |
| es | Enfermedad de Charcot-Marie-Tooth autosómica recesiva con ronquera | AR-CMT con voz ronca |
| it | Malattia di Charcot-Marie-Tooth autosomica recessiva con voce roca | ARCMT2K · CMT4C4 assonale autosomica recessiva · Malattia di Charcot-Marie-Tooth assonale autosomica recessiva, tipo 2K |
| nl | Autosomaal recessieve ziekte van Charcot-Marie-Tooth met heesheid | ARCMT2K · Autosomaal recessieve axonale CMT4C4 · Autosomaal recessieve axonale ziekte van Charcot-Marie-Tooth type 2K |
| pt | Doença de Charcot-Marie-Tooth com rouquidão autossómica recessiva | |
| pl | Autosomalna recesywna choroba Charcota, Mariego i Tootha z chrypką | ARCMT2K · Autosomalna recesywna aksonalna choroba Charcota, Mariego i Tootha typu 2K · Autosomalna recesywna aksonalna CMT4C4 |
| cs | Autozomálně recesivní Charcotova-Marieova-Toothova nemoc s chrapotem | ARCMT2K · Autozomálně recesivní axonální CMT4C4 · Autozomálně recesivní axonální Charcotova-Marieova-Toothova nemoc, typ 2K · Autozomálně recesivní Charcot-Marie-Toothova nemoc s chrapotem · Autozomálně recesivní axonální Charcot-Marie-Toothova nemoc, typ 2K |
| uk | Аутосомно-рецесивна хвороба Шарко-Марі-Тута з хрипотою | ARCMT2K · Аутосомно-рецесивна аксональна хвороба Шарко-Марі-Тута, тип 2К · Аутосомно-рецесивний аксональний CMT4C4 |
| zh | 常染色体隐性遗传夏科-马里-图斯病伴声音嘶哑 | 常染色体隐性遗传轴索性CMT2K型 |
| tr | Ses kısıklığı ile seyreden otozomal resesif Charcot-Marie-Tooth hastalığı | ARCMT2K · Otozomal çekinik aksonal CMT4C4 · Otozomal çekinik aksonal Charcot-Marie-Tooth hastalığı tipi 2K |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 607706 | BTNT | validated | |
| OMIM | 607831 | BTNT | validated | |
| ICD-10 | G60.0 | NTBT | attributed | validated |
| ICD-11 | 8C20.1 | NTBT | index | validated |
| MONDO | 0011916 | E | validated | |
| MONDO | 11916 | E | validated | |
| MeSH | C535418 | E | validated | |
| UMLS | C1842983 | E | validated | |
| GARD | 12448 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:91024Autosomal recessive axonal hereditary motor and sensory neuropathy
rare genetic diseases; rare neurological diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| GDAP1 | Disease-causing germline mutation(s) in | Assessed | HGNC:15968 | ENSG00000104381 | 606598 | 8q21.11 | ganglioside induced differentiation associated protein 1 | 20301462[PMID] |
5
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.
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HPO phenotypes
37 annotations · validated 2021-11-16| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003447 | Axonal loss | |
| HP:0007267 | Chronic axonal neuropathy | |
| HP:0007249 | Decreased number of small peripheral myelinated nerve fibers | |
| HP:0009053 | Distal lower limb muscle weakness | |
| HP:0002936 | Distal sensory impairment | |
| HP:0008959 | Distal upper limb muscle weakness | |
| HP:0007328 | Impaired pain sensation | |
| HP:0010830 | Impaired tactile sensation | |
| HP:0002495 | Impaired vibratory sensation | |
| HP:0000764 | Peripheral axonal degeneration | |
| HP:0011096 | Peripheral demyelination | |
| HP:0008994 | Proximal muscle weakness in lower limbs | |
| HP:0008997 | Proximal muscle weakness in upper limbs | |
| HP:0007141 | Sensorimotor neuropathy | |
| HP:0003202 | Skeletal muscle atrophy | |
| Frequent (79-30%) | ||
| HP:0000925 | Abnormality of the vertebral column | |
| HP:0001284 | Areflexia | |
| HP:0007233 | Clusters of axonal regeneration | |
| HP:0001371 | Flexion contracture | |
| HP:0002359 | Frequent falls | |
| HP:0030237 | Hand muscle weakness | |
| HP:0001609 | Hoarse voice | |
| HP:0006858 | Impaired distal proprioception | |
| HP:0031629 | Impaired tandem gait | |
| HP:0008954 | Intrinsic hand muscle atrophy | |
| HP:0002505 | Loss of ambulation | |
| HP:0011727 | Peroneal muscle weakness | |
| HP:0001761 | Pes cavus | |
| HP:0003731 | Quadriceps muscle weakness | |
| HP:0001315 | Reduced tendon reflexes | |
| HP:0001171 | Split hand | |
| HP:0001762 | Talipes equinovarus | |
| HP:0002317 | Unsteady gait | |
| HP:0001604 | Vocal cord paresis | |
| Occasional (29-5%) | ||
| HP:0000765 | Abnormal thorax morphology | |
| HP:0001270 | Motor delay | |
| Excluded (0%) | ||
| HP:0000762 | Decreased nerve conduction velocity | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 12821518[PMID]_28495047[PMID]
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/101097
- This record as JSON: /data/d/101097.json