Hereditary sensory and autonomic neuropathy due to TECPR2 mutation
Synonyms: Autosomal recessive spastic paraplegia type 49 · HSAN due to TECPR2 mutation · SPG49
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy
- Status
- active
A rare genetic peripheral neuropathy characterized by early hypotonia evolving to spastic paraparesis, areflexia, decreased pain and temperature sensitivity, autonomic neuropathy, gastroesophageal reflux disease, recurrent pneumonia and respiratory problems. Patients also have intellectual disability and dysmorphic features, including mild brachycephalic microcephaly, short broad neck, low anterior hairline and coarse face.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hereditary sensory and autonomic neuropathy due to TECPR2 mutation | Autosomal recessive spastic paraplegia type 49 · HSAN due to TECPR2 mutation · SPG49 |
| fr | Neuropathie héréditaire sensitive et autonomique due à une mutation de TECPR2 | NHSA due à une mutation de TECPR2 · Paraplégie spastique autosomique récessive type 49 · SPG49 |
| de | Hereditäre sensorische und autonome Neuropathie durch TECPR2-Mutation | HSAN durch TECPR2-Mutation · SPG49 · Spastische Paraplegie, autosomal-rezessive, Typ 49 |
| es | Neuropatía sensitiva y autonómica hereditaria por una mutación en el gen TECPR2 | HSAN por una mutación en el gen TECPR2 · Paraplejía espástica autosómica recesiva tipo 49 · SPG49 |
| it | Neuropatia sensoriale e autonomica ereditaria da mutazione di TECPR2 | SPG49 |
| nl | Erfelijke sensorische en autonome neuropathie door TECPR2-mutatie | Autosomaal recessieve spastische paraplegie type 49 · HSAN door TECPR2-mutatie · SPG49 |
| pt | Neuropatia sensitiva e autonómica hereditária por mutação TECPR2 | Paraplegia espástica autossómica recessiva tipo 49 |
| pl | Autosomalna recesywna paraplegia spastyczna typu 49 | SPG49 |
| cs | Autozomálně recesivní spastická paraplegie, typ 49 | SPG49 |
| uk | Спадкова сенсорна та автономна нейропатія, зумовлена мутацією TECPR2 | Аутосомно-рецесивна спастична параплегія типу 49 · HSAN внаслідок мутації TECPR2 · SPG49 |
| zh | TECPR2基因突变所致遗传性感觉和自主神经病变 | 常染色体隐性遗传痉挛性截瘫49型 |
| tr | TECPR2 mutasyonuna bağlı kalıtsal duyusal ve otonom nöropati | SPG49 · TECPR2 mutasyonu nedeniyle HSAN · Otozomal çekinik spastik parapleji tip 49 |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 615031 | E | validated | |
| ICD-10 | G11.4 | NTBT | attributed | validated |
| ICD-11 | 8C21.Y | NTBT | attributed | validated |
| MONDO | 0014016 | E | validated | |
| UMLS | C5190860 | E | validated | |
| GARD | 13568 | 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):
Parents in the classifications (3):
- ORPHA:100981Autosomal recessive complex spastic paraplegia
rare genetic diseases; rare neurological diseases - ORPHA:140477Autosomal recessive hereditary sensory and autonomic neuropathy
rare genetic diseases; rare neurological diseases - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| TECPR2 | Disease-causing germline mutation(s) in | Assessed | HGNC:19957 | ENSG00000196663 | 615000 | 14q32.33 | tectonin beta-propeller repeat containing 2 | 23176824[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 5 cases | Worldwide | Case(s) | Validated | 23176824[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_23176824[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
23 annotations · validated 2018-05-17| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002205 | Recurrent respiratory infections | |
| Frequent (79-30%) | ||
| HP:0001284 | Areflexia | |
| HP:0000248 | Brachycephaly | |
| HP:0000475 | Broad neck | |
| HP:0000678 | Dental crowding | |
| HP:0001260 | Dysarthria | |
| HP:0001310 | Dysmetria | |
| HP:0000293 | Full cheeks | |
| HP:0002066 | Gait ataxia | |
| HP:0001290 | Generalized hypotonia | |
| HP:0001263 | Global developmental delay | |
| HP:0000338 | Hypomimic face | |
| HP:0001249 | Intellectual disability | |
| HP:0000294 | Low anterior hairline | |
| HP:0000252 | Microcephaly | |
| HP:0000311 | Round face | |
| HP:0000470 | Short neck | |
| HP:0004322 | Short stature | |
| Occasional (29-5%) | ||
| HP:0002871 | Central apnea | |
| HP:0001272 | Cerebellar atrophy | |
| HP:0002059 | Cerebral atrophy | |
| HP:0002079 | Hypoplasia of the corpus callosum | |
| HP:0001250 | Seizure | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 23176824[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/320385
- This record as JSON: /data/d/320385.json