Thiamine-responsive encephalopathy

General Information (adopted from Orphanet):

Synonyms, Signs: ENCEPHALOPATHY, THIAMINE-RESPONSIVE
BASAL GANGLIA DISEASE, BIOTIN-RESPONSIVE
THMD2
BBGD
Number of Symptoms 31
OrphanetNr: 199348
OMIM Id: 607483
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Disorder of thiamin metabolism and transport
 -Rare genetic disease
Monogenic disease with epilepsy
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000508) Ptosis 459 / 7739
2
 (HPO:0000639) Nystagmus 555 / 7739
3
 (HPO:0000544) External ophthalmoplegia 40 / 7739
4
 (HPO:0001259) Coma 65 / 7739
5
 (HPO:0002540) Inability to walk 19 / 7739
6
 (HPO:0002385) Paraparesis 12 / 7739
7
 (HPO:0002015) Dysphagia 301 / 7739
8
 (HPO:0001263) Global developmental delay rare [HPO:skoehler] 853 / 7739
9
 (HPO:0001250) Seizures 1245 / 7739
10
 (HPO:0007256) Abnormal pyramidal signs 116 / 7739
11
 (HPO:0002063) Rigidity 92 / 7739
12
 (HPO:0002066) Gait ataxia 327 / 7739
13
 (HPO:0003487) Babinski sign 179 / 7739
14
 (HPO:0000737) Irritability 93 / 7739
15
 (HPO:0001260) Dysarthria 329 / 7739
16
 (HPO:0001289) Confusion 36 / 7739
17
 (HPO:0001298) Encephalopathy 72 / 7739
18
 (HPO:0002300) Mutism 28 / 7739
19
 (HPO:0012179) Craniofacial dystonia 4 / 7739
20
 (HPO:0001332) Dystonia 197 / 7739
21
 (HPO:0001945) Fever 218 / 7739
22
 (HPO:0008936) Muscular hypotonia of the trunk 77 / 7739
23
 (HPO:0002134) Abnormality of the basal ganglia 13 / 7739
24
 (MedDRA:10056696) Gaze palsy 3 / 7739
25
 (HPO:0002062) Morphological abnormality of the pyramidal tract 24 / 7739
26
 (OMIM) Brain MRI shows basal ganglia lesions 3 / 7739
27
 (OMIM) Cortical and subcortical hyperintensities 2 / 7739
28
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
29
 (HPO:0003621) Juvenile onset 105 / 7739
30
 (OMIM) Facial dystonia 6 / 7739
31
 (OMIM) Encephalopathy, subacute 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; ...