ORPHA:140468

Autosomal recessive distal hereditary motor neuropathy

Synonyms: Autosomal recessive dHMN · Autosomal recessive dSMA · Autosomal recessive distal spinal muscular atrophy

Type: Category
Group: Group of disorders
Inheritance: Autosomal recessive
Status: active

This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Autosomal recessive distal hereditary motor neuropathy	Autosomal recessive dHMN · Autosomal recessive dSMA · Autosomal recessive distal spinal muscular atrophy
fr	Neuropathie motrice distale héréditaire autosomique récessive	Amyotrophie spinale distale autosomique récessive · dHMN autosomique récessive · dSMA autosomique récessive
de	Neuropathy, motorische, distale, hereditäre, autosomal-rezessive	Autosomal-rezessive dHMN · Autosomal-rezessive dSMA · Spinale Muskelatrophie, distale, autosomal-rezessive
es	Neuropatía motora distal hereditaria autosómica recesiva	Atrofia muscular espinal distal autosómica recesiva · dHMN autosómica recesiva · dSMA autosómica recesiva
it	Neuropatia motoria ereditaria distale autosomica recessiva	dHMN autosomica recessiva · dSMA autosomica recessiva · Atrofia muscolare spinale distale autosomica recessiva
nl	Autosomaal recessieve distale erfelijke motorische neuropathie	Autosomaal recessieve dHMN · Autosomaal recessieve dSMA · Autosomaal recessieve distale spinale musculaire atrofie · Autosomaal recessieve distale spinale spieratrofie
pt	Neuropatia motora hereditária distal autossómica recessiva
pl	Autosomalna recesywna dziedziczna neuropatia ruchowa	Autosomalna recesywna dHMN · Autosomalny recesywny dSMA · Autosomalny recesywny dystalny rdzeniowy zanik mięśni
cs	Autozomálně recesivní distální hereditární motorická neuropatie	Autozomálně recesivní dHMN · Autozomálně recesivní dSMA · Autozomálně recesivní distální spinální svalová atrofie
uk	Аутосомно-рецесивна спадкова дистальна моторна нейропатія	Аутосомно-рецесивний dHMN · Аутосомно-рецесивна дистальна спінальна мязова атрофія · Аутосомно-рецесивний dSMA
zh	常染色体隐性遗传远端型遗传运动神经病	常染色体隐性遗传远端脊髓性肌萎缩
tr	Otozomal resesif distal kalıtsal motor nöropati	Otozomal çekinik dHMN · Otozomal çekinik dSMA · Otozomal çekinik distal spinal kas atrofisi

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	Validation
OMIM	604320	BTNT	validated
OMIM	605726	BTNT	validated
OMIM	607088	BTNT	validated
OMIM	611067	BTNT	validated
OMIM	614881	BTNT	validated
OMIM	620011	BTNT	validated
MONDO	0015363	E	validated
MONDO	15363	E	validated
UMLS	C5548369	E	validated
GARD	19927	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):

ORPHA:98006Rare neurologic disease

Parents in the classifications (1):

ORPHA:53739Distal hereditary motor neuropathy
rare genetic diseases; rare neurological diseases

Children (7):

Genes

0 direct

Orphanet records no gene directly on this code.

Prevalence and incidence

0 records

No prevalence record in this release.

HPO phenotypes

Orphanet has no HPO annotation for this code in this release.

Sources for this card

Orphanet page: orpha.net/en/disease/detail/140468
This record as JSON: /data/d/140468.json