Biotin-responsive basal ganglia disease

General Information (adopted from Orphanet):

Synonyms, Signs: ENCEPHALOPATHY, THIAMINE-RESPONSIVE
BASAL GANGLIA DISEASE, BIOTIN-RESPONSIVE
THMD2
BBGD
BTBGD
Biotin-thiamine-responsive basal ganglia disease
Number of Symptoms 20
OrphanetNr: 65284
OMIM Id: 607483
ICD-10: G25.8
UMLs: C1843807
MeSH: C537658
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: Disorder of thiamin metabolism and transport
 -Rare genetic disease
Neurometabolic disease
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000508) Ptosis 459 / 7739
2
 (HPO:0000544) External ophthalmoplegia 40 / 7739
3
 (HPO:0000639) Nystagmus 555 / 7739
4
 (HPO:0002015) Dysphagia 301 / 7739
5
 (HPO:0001259) Coma 65 / 7739
6
 (HPO:0001260) Dysarthria 329 / 7739
7
 (HPO:0002540) Inability to walk 19 / 7739
8
 (HPO:0002066) Gait ataxia 327 / 7739
9
 (HPO:0002300) Mutism 28 / 7739
10
 (HPO:0001250) Seizures 1245 / 7739
11
 (HPO:0002063) Rigidity 92 / 7739
12
 (HPO:0007256) Abnormal pyramidal signs 116 / 7739
13
 (HPO:0001289) Confusion 36 / 7739
14
 (HPO:0002385) Paraparesis 12 / 7739
15
 (HPO:0001332) Dystonia 197 / 7739
16
 (OMIM) Facial dystonia 6 / 7739
17
 (OMIM) Brain MRI shows basal ganglia lesions 3 / 7739
18
 (OMIM) Encephalopathy, subacute 2 / 7739
19
 (MedDRA:10056696) Gaze palsy 3 / 7739
20
 (OMIM) Cortical and subcortical hyperintensities 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Thiamine metabolism dysfunction syndrome-2 (THMD2) is an autosomal recessive metabolic disorder characterized by episodic encephalopathy, often triggered by febrile illness, presenting as confusion, seizures, external ophthalmoplegia, dysphagia, and sometimes coma and death. Administration of high doses of biotin, ...
Clinical Description OMIM Ozand et al. (1998) described a biotin-responsive basal ganglia disease in 10 patients, 8 of whom were Saudi, 1 Syrian, and 1 of Yemen origin. The parents in all cases were consanguineous, being first cousins in 7 of ...
Molecular genetics OMIM Zeng et al. (2005) found that each family with BBGD studied by them displayed 1 of 2 different missense mutations that altered the coding sequence of SLC19A3 (606152), the gene encoding a transporter related to the reduced-folate (SLC19A1; ...