Riboflavin transporter deficiency

General Information (adopted from Orphanet):

Synonyms, Signs: Brown-Vialetto-van Laere syndrome
Sensorineural hearing loss - pontobulbar palsy
Number of Symptoms 59
OrphanetNr: 97229
OMIM Id: 211530
614707
ICD-10: G12.1
UMLs: C0796274
MeSH: C537111
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 80 cases [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Bulbospinal muscular atrophy of children
 -Rare genetic disease
 -Rare neurologic disease
Syndromic genetic deafness
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare otorhinolaryngologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0002058) Myopathic facies 26 / 7739
2
 (HPO:0001308) Tongue fasciculations 18 / 7739
3
 (HPO:0012473) Tongue atrophy 8 / 7739
4
 (HPO:0010628) Facial palsy 146 / 7739
5
 (HPO:0000467) Neck muscle weakness 29 / 7739
6
 (HPO:0008002) Abnormality of macular pigmentation Occasional [Orphanet] 20 / 7739
7
 (HPO:0000508) Ptosis 459 / 7739
8
 (HPO:0000510) Rod-cone dystrophy Occasional [Orphanet] 266 / 7739
9
 (HPO:0000572) Visual loss Occasional [Orphanet] 272 / 7739
10
 (HPO:0000544) External ophthalmoplegia 40 / 7739
11
 (HPO:0000642) Red-green dyschromatopsia Occasional [Orphanet] 25 / 7739
12
 (HPO:0000407) Sensorineural hearing impairment Very frequent [Orphanet] 524 / 7739
13
 (HPO:0004305) Involuntary movements Frequent [Orphanet] 50 / 7739
14
 (HPO:0007097) Cranial nerve motor loss 1 / 7739
15
 (HPO:0002066) Gait ataxia Occasional [Orphanet] 327 / 7739
16
 (HPO:0001337) Tremor Occasional [Orphanet] 200 / 7739
17
 (HPO:0001251) Ataxia rare [HPO:skoehler] 413 / 7739
18
 (HPO:0002167) Neurological speech impairment Frequent [Orphanet] 308 / 7739
19
 (HPO:0001315) Reduced tendon reflexes Frequent [Orphanet] 160 / 7739
20
 (HPO:0001605) Vocal cord paralysis 13 / 7739
21
 (HPO:0011449) Knee clonus 10 / 7739
22
 (HPO:0002011) Morphological abnormality of the central nervous system Very frequent [Orphanet] 5 / 7739
23
 (HPO:0009830) Peripheral neuropathy 206 / 7739
24
 (HPO:0000738) Hallucinations Occasional [Orphanet] 60 / 7739
25
 (HPO:0011442) Abnormality of central motor function Frequent [Orphanet] 76 / 7739
26
 (HPO:0011448) Ankle clonus 31 / 7739
27
 (HPO:0001250) Seizures Occasional [Orphanet] 1245 / 7739
28
 (HPO:0006824) Cranial nerve paralysis Very frequent [Orphanet] 81 / 7739
29
 (HPO:0002015) Dysphagia Frequent [Orphanet] 301 / 7739
30
 (HPO:0100851) Abnormal emotion/affect behavior Occasional [Orphanet] 85 / 7739
31
 (HPO:0002270) Abnormality of the autonomic nervous system Occasional [Orphanet] 22 / 7739
32
 (HPO:0002312) Clumsiness 28 / 7739
33
 (HPO:0000771) Gynecomastia Occasional [Orphanet] 53 / 7739
34
 (HPO:0000873) Diabetes insipidus Occasional [Orphanet] 34 / 7739
35
 (HPO:0008373) Puberty and gonadal disorders Occasional [Orphanet] 156 / 7739
36
 (HPO:0002808) Kyphosis 289 / 7739
37
 (HPO:0009130) Hand muscle atrophy 11 / 7739
38
 (HPO:0002650) Scoliosis 705 / 7739
39
 (HPO:0009113) Diaphragmatic weakness 12 / 7739
40
 (HPO:0004326) Cachexia Occasional [Orphanet] 71 / 7739
41
 (HPO:0000822) Hypertension Occasional [Orphanet] 224 / 7739
42
 (HPO:0002094) Dyspnea 132 / 7739
43
 (HPO:0002104) Apnea Occasional [Orphanet] 106 / 7739
44
 (HPO:0002877) Nocturnal hypoventilation 9 / 7739
45
 (HPO:0002205) Recurrent respiratory infections 254 / 7739
46
 (HPO:0010307) Stridor 19 / 7739
47
 (HPO:0002093) Respiratory insufficiency Frequent [Orphanet] 410 / 7739
48
 (HPO:0001621) Weak voice 5 / 7739
49
 (HPO:0001324) Muscle weakness Frequent [Orphanet] 859 / 7739
50
 (HPO:0001252) Muscular hypotonia Frequent [Orphanet] 990 / 7739
51
 (HPO:0003701) Proximal muscle weakness 105 / 7739
52
 (HPO:0003202) Skeletal muscle atrophy Frequent [Orphanet] 281 / 7739
53
 (HPO:0001283) Bulbar palsy 31 / 7739
54
 (HPO:0012795) Abnormality of the optic disc Occasional [Orphanet] 187 / 7739
55
 (HPO:0002120) Cerebral cortical atrophy Occasional [Orphanet] 187 / 7739
56
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
57
 (HPO:0003676) Progressive disorder 148 / 7739
58
 (HPO:0003621) Juvenile onset 105 / 7739
59
 (HPO:0012758) Neurodevelopmental delay Occasional [Orphanet] 949 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: