Brown-vialetto-van laere syndrome 2

Preferred Label : Brown-vialetto-van laere syndrome 2;

Symbol : BVVLS2;

CISMeF acronym : BVVLS2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : RTD2; Riboflavin transporter deficiency, type 2;

Description : Brown-Vialetto-Van Laere syndrome-2 is an autosomal recessive progressive neurologic disorder characterized by early childhood onset of sensorineural deafness, bulbar dysfunction, and severe diffuse muscle weakness and wasting of the upper and lower limbs and axial muscles, resulting in respiratory insufficiency. Some patients may lose independent ambulation. Because it results from a defect in riboflavin metabolism, some patients may benefit from high-dose riboflavin supplementation (summary by Johnson et al., 2012 and Foley et al., 2014). See also BVVLS1 (211530), caused by mutation in the SLC52A3 gene (613350).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the solute carrier family 52 (riboflavin transporter), member 2 gene (SLC52A2, 607882.0001);

Laboratory abnormalities : Abnormal acylcarnitine profiles; Organic aciduria;

Prefixed ID : #614707;

Details

Origin ID

614707;

UMLS CUI

C3553538;

Automatic exact mappings (from CISMeF team)
- RFVT2-related riboflavin transporter deficiency [ORDO Disease]
Currated CISMeF NLP mapping
- Brown-Vialetto-Van Laere Syndrome 2 [NCIt concept]
- Brown-Vialetto-Van Laere syndrome 2 [DO Concept]
Genes related to phenotype
- Solute carrier family 52 (riboflavin transporter), member 2 [OMIM gene]
HPO term(s)
- Aggressive behavior [HPO term]
- Areflexia [HPO term]
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bulbar palsy [HPO term]
- Clumsiness [HPO term]
- Cranial nerve paralysis [HPO term]
- Dysphagia [HPO term]
- Facial palsy [HPO term]
- Generalized amyotrophy [HPO term]
- Generalized hypotonia [HPO term]
- Hypokinesia [HPO term]
- Hypotonia [HPO term]
- Kyphoscoliosis [HPO term]
- Limb muscle weakness [HPO term]
- Neck muscle weakness [HPO term]
- Nystagmus [HPO term]
- Optic atrophy [HPO term]
- Organic aciduria [HPO term]
- Progressive [HPO term]
- Respiratory insufficiency [HPO term]
- Scoliosis [HPO term]
- Sensorimotor neuropathy [HPO term]
- Sensorineural hearing impairment [HPO term]
- Split hand [HPO term]
- Tongue fasciculations [HPO term]
- Variable expressivity [HPO term]
- Visual loss [HPO term]
ORDO concept(s)
- RFVT3-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 2 [NCIt concept]

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