ORPHA:139583
X-linked hereditary sensory and autonomic neuropathy with deafness
Synonyms: X-linked HSAN with deafness · X-linked HSAN with hearing loss · X-linked auditory neuropathy with peripheral sensory neuropathy type 1 · X-linked hereditary sensory and autonomic neuropathy with hearing loss
- Type
- Disease
- Group
- Disorder
- Inheritance
- X-linked recessive
- Age of onset
- Childhood
- Status
- active
A rare peripheral neuropathy characterized by the association of an axonal sensory and autonomic neuropathy with hearing loss.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | X-linked hereditary sensory and autonomic neuropathy with deafness | X-linked HSAN with deafness · X-linked HSAN with hearing loss · X-linked auditory neuropathy with peripheral sensory neuropathy type 1 · X-linked hereditary sensory and autonomic neuropathy with hearing loss |
| fr | Neuropathie héréditaire sensitive et autonomique liée à l'X avec surdité | NHSA avec surdité liée à l'X · Neuropathie auditive avec neuropathie sensitive périphérique de type 1 liée à l'X |
| de | Hereditäre sensorische und autonome Neuropathie mit Taubheit, X-chromosomal | Auditorische Neuropathie mit peripherer sensibler Neuropathie, X-chromosomal, Typ 1 · HSAN mit Schwerhörigkeit, X-chromosomal |
| es | Neuropatía sensitiva autonómica hereditaria ligada al cromosoma X con sordera | NSAH con hipoacusia ligada al cromosoma X · NSAH con sordera ligada al cromosoma X · Neuropatía auditiva con neuropatía periférica sensitiva ligada al cromosoma X tipo 1 · Neuropatía sensitiva autonómica hereditaria ligada al cromosoma X con hipoacusia |
| it | Neuropatia autonomica e sensoriale ereditaria legata all'X con sordità | HSAN con sordità legata all'X · Neuropatia acustica con neuropatia sensitiva periferica legata all'X, tipo 1 |
| nl | X-gebonden hereditaire sensorische en autonome neuropathie met doofheid | X-gebonden HSAN met doofheid · X-gebonden HSAN met gehoorverlies · X-gebonden auditieve neuropathie met perifere sensorische neuropathie type 1 · X-gebonden hereditaire sensorische en autonome neuropathie met gehoorverlies |
| pt | Neuropatia sensitiva e autonómica hereditária ligada ao X com surdez | |
| pl | Dziedziczna neuropatia czuciowa i autonomiczna sprzężona z chromosomem X z głuchotą | HSAN sprzężona z chromosomem X z głuchotą · Neuropatia słuchowa sprzężona z chromosomem X z obwodową neuropatią czuciową typu 1 |
| cs | X-vázaná hereditární senzorická a autonomní neuropatie s hluchotou | X-vázaná HSAN s hluchotou · X-vázaná neuropatie sluchového nervu s periferní senzorickou neuropatií, typ 1 |
| uk | Х-зчеплена спадкова сенсорна та автономна нейропатія з глухотою | Х-зчеплена слухова нейропатія з периферичною сенсорною нейропатією типу 1 · Х-зчеплена спадкова сенсорна та вегетативна нейропатія з втратою слуху · Х-зчеплений HSAN з глухотою · Х-звязаний HSAN зі зниженим слухом |
| zh | X连锁遗传性感觉和自主神经病变伴耳聋 | X连锁遗传性感觉和自主神经病变伴耳聋 |
| tr | Sağırlık ile seyreden X'e bağlı kalıtsal duyusal ve otonomik nöropati | Sağırlık ile seyreden X bağlantılı HSAN · İşitme kaybı ile seyreden X bağlantılı HSAN · Periferik duyusal nöropati tip 1 ile seyreden X'e bağlı işitsel nöropati · İşitme kaybı ile seyreden X'e bağlı kalıtsal duyusal ve otonomik nöropati |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 300614 | E | validated | |
| ICD-10 | G60.8 | NTBT | attributed | validated |
| ICD-11 | 8C21.Y | NTBT | index | validated |
| MONDO | 0010378 | E | validated | |
| UMLS | C4304400 | 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 (1):
- ORPHA:140471Hereditary sensory and autonomic neuropathy
rare genetic diseases; rare neurological diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| AIFM1 | Disease-causing germline mutation(s) in | Assessed | HGNC:8768 | ENSG00000156709 | 300169 | Xq26.1 | apoptosis inducing factor mitochondria associated 1 | 25986071[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 5 families | Worldwide | Family(ies) | Validated | 25986071[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_25986071[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.
6
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/139583
- This record as JSON: /data/d/139583.json