ORPHA:101081

Charcot-Marie-Tooth disease type 1A

Synonyms: CMT1A · Microduplication 17p12

This disease is described under Charcot-Marie-Tooth disease type 1

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Charcot-Marie-Tooth disease type 1A	CMT1A · Microduplication 17p12
fr	Maladie de Charcot-Marie-Tooth type 1A	= en
de	Charcot-Marie-Tooth-Krankheit Typ 1A	CMT1A · Mikroduplikation 17p12
es	Enfermedad de Charcot-Marie-Tooth tipo 1A	CMT1A · Microduplicación 17p12
it	Malattia di Charcot-Marie-Tooth, tipo 1A	Microduplicazione 17p12
nl	Ziekte van Charcot-Marie-Tooth type 1A	CMT1A · Microduplicatie 17p12
pt	Doença de Charcot-Marie-Tooth tipo 1A
pl	Choroba Charcota, Mariego i Tootha typu 1A	CMT1A · Mikroduplikacja 17p12
cs	Charcotova-Marieova-Toothova nemoc, typ 1A	CMT1A · Mikroduplikace 17p12 · Charcot-Marie-Toothova nemoc, typ 1A
uk	Хвороба Шарко-Марі-Тута, тип 1А	CMT1A · Мікродуплікація 17p12
zh	夏科-马里-图斯病1A型	17p12微重复
tr	Charcot-Marie-Tooth hastalığı tip 1A	CMT1A · Mikroduplikasyon 17p12

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	118220	E		validated
ICD-10	G60.0	NTBT	attributed	validated
ICD-11	LD41.G1	NTBT	index	validated
MONDO	0007309	E		validated
UMLS	C0270911	E		validated
GARD	1245	E		validated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

Preferential parent (Orphanet linearisation):

Parents in the classifications (2):

ORPHA:65753Charcot-Marie-Tooth disease type 1
rare genetic diseases; rare neurological diseases
ORPHA:262803Partial duplication of the short arm of chromosome 17 syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases

No children.

1 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
PMP22	Disease-causing germline mutation(s) in	Assessed	HGNC:9118	ENSG00000109099	601097	17p12	peripheral myelin protein 22	20301384[PMID]

3 records

Type	Class	Value	Area	Qualification	Validation	Source
Point prevalence	6-9 / 10 000	82.37 / 100 000	Norway	Value and class	Validated	20482598[PMID]_24646194[PMID]
Point prevalence	1-5 / 10 000	15.2 / 100 000	United Kingdom	Value and class	Validated	21984771[PMID]
Point prevalence	1-5 / 10 000	—	Worldwide	Class only	Validated	ORPHANET_20301384[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.

20 annotations · validated 2023-09-08

HPO	Term (as annotated by Orphanet)	Diagnostic
Frequent (79-30%)
HP:0003431	Decreased motor nerve conduction velocity
HP:0003448	Decreased sensory nerve conduction velocity
HP:0007108	Demyelinating peripheral neuropathy
HP:0002460	Distal muscle weakness
HP:0002936	Distal sensory impairment
HP:0001288	Gait disturbance
HP:0001265	Hyporeflexia
HP:0001761	Pes cavus
HP:0003701	Proximal muscle weakness
HP:0010871	Sensory ataxia
HP:0003202	Skeletal muscle atrophy
Occasional (29-5%)
HP:0007131	Acute demyelinating polyneuropathy
HP:0008981	Calf muscle hypertrophy
HP:0009113	Diaphragmatic weakness
HP:0002141	Gait imbalance
HP:0002751	Kyphoscoliosis
HP:0003401	Paresthesia
HP:0030834	Shoulder pain
HP:0010833	Spontaneous pain sensation
Very rare (<4-1%)
HP:0006801	Hyperactive deep tendon reflexes

Annotation source: 8682501[PMID]_17353481[PMID]_15703022[PMID]_20301532[PMID]