BROWN-VIALETTO-VAN LAERE SYNDROME 1

General Information (adopted from Orphanet):

Synonyms, Signs: BVVLS1
PONTOBULBAR PALSY WITH DEAFNESS
BULBAR PALSY, PROGRESSIVE, WITH SENSORINEURAL DEAFNESS
Number of Symptoms 43
OrphanetNr:
OMIM Id: 211530
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset: Juvenile onset
[Omim]

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0001308) Tongue fasciculations 18 / 7739
2
(HPO:0000467) Neck muscle weakness 29 / 7739
3
(HPO:0010628) Facial palsy 146 / 7739
4
(HPO:0002058) Myopathic facies 26 / 7739
5
(HPO:0012473) Tongue atrophy 8 / 7739
6
(HPO:0000544) External ophthalmoplegia 40 / 7739
7
(HPO:0000508) Ptosis 459 / 7739
8
(HPO:0008625) Severe sensorineural hearing impairment 150 / 7739
9
(HPO:0008527) Congenital sensorineural hearing impairment 165 / 7739
10
(HPO:0000407) Sensorineural hearing impairment 524 / 7739
11
(HPO:0002311) Incoordination 84 / 7739
12
(HPO:0011448) Ankle clonus 31 / 7739
13
(HPO:0002015) Dysphagia 301 / 7739
14
(HPO:0002312) Clumsiness 28 / 7739
15
(HPO:0003477) Peripheral axonal neuropathy 62 / 7739
16
(HPO:0009830) Peripheral neuropathy 206 / 7739
17
(HPO:0007178) Motor polyneuropathy 31 / 7739
18
(HPO:0006824) Cranial nerve paralysis 81 / 7739
19
(HPO:0001347) Hyperreflexia 363 / 7739
20
(HPO:0002380) Fasciculations 42 / 7739
21
(HPO:0001605) Vocal cord paralysis 13 / 7739
22
(HPO:0001251) Ataxia 413 / 7739
23
(HPO:0002066) Gait ataxia 327 / 7739
24
(HPO:0009130) Hand muscle atrophy 11 / 7739
25
(HPO:0002808) Kyphosis 289 / 7739
26
(HPO:0002650) Scoliosis 705 / 7739
27
(HPO:0009113) Diaphragmatic weakness 12 / 7739
28
(HPO:0002877) Nocturnal hypoventilation 9 / 7739
29
(HPO:0002094) Dyspnea 132 / 7739
30
(HPO:0010307) Stridor 19 / 7739
31
(HPO:0001283) Bulbar palsy 31 / 7739
32
(OMIM) Upper motor signs 2 / 7739
33
(OMIM) Muscle atrophy, proximal and distal 3 / 7739
34
(OMIM) Twitching of the fingers and toes 1 / 7739
35
(OMIM) Lower motor signs 1 / 7739
36
(OMIM) Muscle weakness, proximal and distal 2 / 7739
37
(OMIM) Fibrillations 3 / 7739
38
(OMIM) Hypotonia, truncal and appendicular 1 / 7739
39
(HPO:0001317) Abnormality of the cerebellum 36 / 7739
40
(OMIM) Increased susceptibility to respiratory infections 1 / 7739
41
(OMIM) Shoulder muscle weakness 1 / 7739
42
(OMIM) Soft voice due to vocal cord paralysis 1 / 7739
43
(OMIM) Spinal neuropathy 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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, ...
Clinical Description OMIM The first case of BVVLS was reported by Brown (1894) as a form of familial infantile amyotrophic lateral sclerosis. Familial cases in a pattern consistent with autosomal recessive inheritance were reported by Vialetto (1936), Van Laere (1966), and ...
Molecular genetics OMIM By autozygosity mapping followed by candidate gene analysis of a consanguineous Pakistani family with Brown-Vialetto-Van Laere syndrome, Green et al. (2010) identified a homozygous mutation in the C20ORF54 gene (613350.0001) on chromosome 20p13. Analysis of other families with ...