BROWN-VIALETTO-VAN LAERE SYNDROME 2

General Information (adopted from Orphanet):

Synonyms, Signs: BVVLS2
Number of Symptoms 40
OrphanetNr:
OMIM Id: 614707
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0001992) Organic aciduria rare [HPO:skoehler] 28 / 7739
2
(HPO:0010628) Facial palsy 146 / 7739
3
(HPO:0000467) Neck muscle weakness 29 / 7739
4
(HPO:0001308) Tongue fasciculations 18 / 7739
5
(HPO:0000639) Nystagmus rare [HPO:skoehler] 555 / 7739
6
(HPO:0000572) Visual loss rare [HPO:skoehler] 272 / 7739
7
(HPO:0000618) Blindness 124 / 7739
8
(HPO:0000648) Optic atrophy rare [HPO:skoehler] 238 / 7739
9
(HPO:0000407) Sensorineural hearing impairment 524 / 7739
10
(HPO:0002312) Clumsiness 28 / 7739
11
(HPO:0002015) Dysphagia rare [HPO:skoehler] 301 / 7739
12
(HPO:0001251) Ataxia 413 / 7739
13
(HPO:0006824) Cranial nerve paralysis 81 / 7739
14
(HPO:0000718) Aggressive behavior rare [HPO:skoehler] 109 / 7739
15
(HPO:0001284) Areflexia 198 / 7739
16
(HPO:0002375) Hypokinesia 25 / 7739
17
(HPO:0002650) Scoliosis 705 / 7739
18
(HPO:0002751) Kyphoscoliosis rare [HPO:skoehler] 131 / 7739
19
(HPO:0001171) Split hand 72 / 7739
20
(HPO:0002093) Respiratory insufficiency 410 / 7739
21
(HPO:0001324) Muscle weakness 859 / 7739
22
(HPO:0003700) Generalized amyotrophy 39 / 7739
23
(HPO:0001252) Muscular hypotonia 990 / 7739
24
(HPO:0001283) Bulbar palsy 31 / 7739
25
(HPO:0008947) Infantile muscular hypotonia 482 / 7739
26
(HPO:0010547) Muscle flaccidity 466 / 7739
27
(HPO:0003828) Variable expressivity 130 / 7739
28
(OMIM) Absent pupillary reflex 1 / 7739
29
(OMIM) Sleep hypoventilation (1 patient) 1 / 7739
30
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
31
(OMIM) Absent brainstem auditory-evoked responses 1 / 7739
32
(OMIM) Axonal sensorimotor neuropathy 6 / 7739
33
(OMIM) EMG shows neurogenic changes 5 / 7739
34
(OMIM) Inability to hold head up 2 / 7739
35
(OMIM) Abnormal acylcarnitine profiles 1 / 7739
36
(HPO:0003676) Progressive disorder 148 / 7739
37
(OMIM) Loss of independent ambulation 5 / 7739
38
(OMIM) Fibrillations 3 / 7739
39
(OMIM) Muscle weakness, proximal, distal, and axial, severe 1 / 7739
40
(OMIM) Muscle atrophy, diffuse, severe 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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 resulting in respiratory insufficiency and loss of independent ambulation. Because it ...
Clinical Description OMIM Megarbane et al. (2000) reported a large inbred Lebanese family with 4 patients, including 3 males and 1 female, with severe features of Brown-Vialetto-Van Laere syndrome. The proband showed normal early childhood development until about age 2.5 years, ...
Molecular genetics OMIM In affected members of a large consanguineous Lebanese family with severe Brown-Vialetto-Van Laere syndrome-2, Johnson et al. (2012) identified a homozygous mutation in the SLC52A2 gene (G306R; 607882.0001). A Scottish girl with the disorder was also found to ...