ORPHA:139573

Hereditary sensory and autonomic neuropathy with deafness and global delay

Synonyms: HSAN with deafness and global delay · HSAN with hearing loss and global delay · Hereditary sensory and autonomic neuropathy with hearing loss and global delay

Type: Disease
Group: Disorder
Inheritance: Autosomal recessive
Age of onset: Childhood, Infancy
Status: active

This syndrome is characterized by a sensory and autonomic axonal neuropathy, sensorineural hearing loss and persistent global developmental delay.

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Hereditary sensory and autonomic neuropathy with deafness and global delay	HSAN with deafness and global delay · HSAN with hearing loss and global delay · Hereditary sensory and autonomic neuropathy with hearing loss and global delay
fr	Neuropathie héréditaire sensitive et autonomique avec surdité et retard de développement	NHSA avec surdité et retard de dévelopement
de	Hereditäre sensorische und autonome Neuropathie mit Taubheit und allgemeiner Entwicklungsverzögerung	HSAN mit Taubheit und allgemeiner Entwicklungsverzögerung
es	Neuropatía sensitiva autonómica hereditaria con sordera y retraso global	NSAH con hipoacusia y retraso global · NSAH con sordera y retraso global · Neuropatía sensitiva autonómica hereditaria con hipoacusia y retraso global
it	Neuropatia autonomica e sensoriale ereditaria - sordità - ritardo globale	HSAN con sordità e ritardo globale
nl	Erfelijke sensorische en autonome neuropathie met doofheid en algehele ontwikkelingsachterstand	Erfelijke sensorische en autonome neuropathie met gehoorverlies en algehele ontwikkelingsachterstand · HSAN met doofheid en algehele ontwikkelingsachterstand · HSAN met gehoorverlies en algehele ontwikkelingsachterstand
pt	Neuropatia sensitiva e autonómica hereditária com surdez e atraso global
pl	Dziedziczna neuropatia czuciowa i autonomiczna z głuchotą i opóźnieniem rozwoju	HSAN z głuchotą i opóźnieniem rozwoju
cs	Hereditární senzorická a autonomní neuropatie s hluchotou a celkovým opožděním	HSAN s hluchotou a celkovým opožděním
uk	Спадкова сенсорна та вегетативна нейропатія з глухотою та глобальною затримкою розвитку	Спадкова сенсорна та вегетативна нейропатія з втратою слуху та затримкою психічного розвитку · HSAN з глухотою та глобальною затримкою · HSAN із втратою слуху та глобальною затримкою
zh	遗传性感觉和自主神经病变伴耳聋和全面发育迟缓	遗传性感觉和自主神经病变伴有听力损失和全面发育迟缓
tr	Sağırlık ve yaygın gecikme ile seyreden kalıtsal duyusal ve otonom nöropati	Sağırlık ve yaygın gecikme ile seyreden HSAN · İşitme kaybı ve yaygın gecikme ile seyreden HSAN · İşitme kaybı ve yaygın gecikme ile seyreden kalıtsal duyusal ve otonom nöropati

Definition in:

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
ICD-10	G60.8	NTBT	attributed	validated
ICD-11	8C21.Y	NTBT	index	validated
MONDO	0015354	E		validated
UMLS	C4303566	E		validated
GARD	19920	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:140477Autosomal recessive hereditary sensory and autonomic neuropathy
rare genetic diseases; rare neurological diseases

No children.

Genes

0 direct

Orphanet records no gene directly on this code.

Prevalence and incidence

2 records

Type	Class	Value	Area	Qualification	Validation	Source
Cases/families		4 cases	Worldwide	Case(s)	Validated	12160974[PMID]
Point prevalence	<1 / 1 000 000	—	Worldwide	Class only	Validated	ORPHANET_12160974[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/139573
This record as JSON: /data/d/139573.json