Leukoencephalopathy - dystonia - motor neuropathy

General Information (adopted from Orphanet):

Synonyms, Signs: STEROL CARRIER PROTEIN 2 DEFICIENCY
Number of Symptoms 11
OrphanetNr: 163684
OMIM Id: 613724
ICD-10: E75.2
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 2 cases [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Leukodystrophy
 -Rare genetic disease
 -Rare neurologic disease
Peroxisomal beta-oxidation disorder
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000815) Hypergonadotropic hypogonadism 48 / 7739
2
 (HPO:0000027) Azoospermia 28 / 7739
3
 (HPO:0000473) Torticollis 42 / 7739
4
 (HPO:0004409) Hyposmia 16 / 7739
5
 (HPO:0000570) Abnormality of saccadic eye movements 12 / 7739
6
 (HPO:0002450) Abnormal motor neuron morphology 2 / 7739
7
 (HPO:0009830) Peripheral neuropathy 206 / 7739
8
 (HPO:0002346) Head tremor 9 / 7739
9
 (HPO:0002080) Intention tremor 44 / 7739
10
 (HPO:0010663) Abnormality of thalamus morphology 6 / 7739
11
 (HPO:0002352) Leukoencephalopathy 32 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Ferdinandusse et al. (2006) described the first known patient with deficiency of sterol carrier protein-2 (SCPx), a peroxisomal enzyme with thiolase activity, which is required for the breakdown of branched-chain fatty acids. The patient was a 45-year-old white ...
Molecular genetics OMIM By mutation analysis of the SCP2 gene in a patient with leukoencephalopathy with dystonia and motor neuropathy, Ferdinandusse et al. (2006) identified a homozygous 1-bp insertion (545_546insA) (184755.0001).