Brown-vialetto-van laere syndrome 1

Preferred Label : Brown-vialetto-van laere syndrome 1;

Symbol : BVVLS1;

CISMeF acronym : BVVLS1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Pontobulbar palsy with deafness; Bulbar palsy, progressive, with sensorineural deafness;

Description : Brown-Vialetto-Van Laere syndrome is a rare autosomal recessive neurologic disorder characterized by sensorineural hearing loss and a variety of cranial nerve palsies, usually involving the motor components of the seventh and ninth to twelfth (more rarely the third, fifth, and sixth) cranial nerves. Spinal motor nerves and, less commonly, upper motor neurons are sometimes affected, giving a picture resembling amyotrophic lateral sclerosis (ALS; 105400). The onset of the disease is usually in the second decade, but earlier and later onset have been reported. Hearing loss tends to precede the onset of neurologic signs, mostly progressive muscle weakness causing respiratory compromise. However, patients with very early onset may present with bulbar palsy and may not develop hearing loss until later. The symptoms, severity, and disease duration are variable (summary by Green et al., 2010). - Genetic Heterogeneity of Brown-Vialetto-Van Laere Syndrome See also BVVLS2 (614707), caused by mutation in the SLC52A2 gene (607882) on chromosome 8q.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the solute carrier family 52 (riboflavin transporter), member 3 gene (SLC52A3, 613350.0001);

Prefixed ID : #211530;

Details

Origin ID

211530;

UMLS CUI

C0796274;

Currated CISMeF NLP mapping
- Brown-Vialetto-Van Laere Syndrome 1 [NCIt concept]
- Brown-Vialetto-Van Laere syndrome [DO Concept]
- Brown-Vialetto-Van Laere syndrome [MeSH concept]
- Brown-Vialetto-Van laere syndrome [MeSH Supplementary Concept]
- Progressive bulbar palsy with sensorineural deafness (disorder) [SNOMED CT concept]
- Riboflavin transporter deficiency [ORDO Disease]
- riboflavin transporter deficiency [Disease (Nov.)]
DO Cross reference
- Brown-Vialetto-Van Laere syndrome [DO Concept]
Genes related to phenotype
- Solute carrier family 52 (riboflavin transporter), member 3 [OMIM gene]
HPO term(s)
- Abnormal cerebellum morphology [HPO term]
- Ankle clonus [HPO term]
- Ankle or knee clonus [HPO term]
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bilateral sensorineural deafness [HPO term]
- Bulbar palsy [HPO term]
- Clumsiness [HPO term]
- Cranial nerve motor loss [HPO term]
- Cranial nerve paralysis [HPO term]
- Diaphragmatic weakness [HPO term]
- Dysphagia [HPO term]
- Dyspnea [HPO term]
- External ophthalmoplegia [HPO term]
- Facial palsy [HPO term]
- Hand muscle atrophy [HPO term]
- Hyperreflexia [HPO term]
- Hypotonia [HPO term]
- Juvenile onset [HPO term]
- Knee clonus [HPO term]
- Kyphosis [HPO term]
- Myopathic facies [HPO term]
- Neck muscle weakness [HPO term]
- Nocturnal hypoventilation [HPO term]
- Peripheral neuropathy [HPO term]
- Progressive [HPO term]
- Proximal muscle weakness [HPO term]
- Ptosis [HPO term]
- Recurrent respiratory infections [HPO term]
- Respiratory distress [HPO term]
- Respiratory insufficiency [HPO term]
- Scoliosis [HPO term]
- Sensorineural hearing impairment [HPO term]
- Stridor [HPO term]
- Tongue atrophy [HPO term]
- Tongue fasciculations [HPO term]
- Vocal cord paralysis [HPO term]
- Weak voice [HPO term]
ORDO concept(s)
- RFVT2-related riboflavin transporter deficiency [ORDO Disease]
- Riboflavin transporter deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Brown-Vialetto-Van Laere Syndrome 1 [NCIt concept]
- Brown-Vialetto-Van Laere syndrome [MeSH concept]
- Brown-Vialetto-Van laere syndrome [MeSH Supplementary Concept]
- Riboflavin transporter deficiency [ORDO Disease]

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