MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 1

General Information (adopted from Orphanet):

Synonyms, Signs: VAN DER KNAAP DISEASE
LEUKOENCEPHALOPATHY WITH SWELLING AND CYSTS
VACUOLATING MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS
LVM
MLC1
VL
Number of Symptoms 11
OrphanetNr:
OMIM Id: 604004
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000256) Macrocephaly 298 / 7739
2
(HPO:0001270) Motor delay 322 / 7739
3
(HPO:0001257) Spasticity 251 / 7739
4
(HPO:0001250) Seizures 1245 / 7739
5
(HPO:0001256) Intellectual disability, mild 141 / 7739
6
(HPO:0001251) Ataxia 413 / 7739
7
(HPO:0007341) Diffuse swelling of cerebral white matter 5 / 7739
8
(OMIM) Vacuolizing myelinopathy 1 / 7739
9
(OMIM) Large subcortical cysts in frontal and temporal lobes 1 / 7739
10
(HPO:0006943) Diffuse spongiform leukoencephalopathy 2 / 7739
11
(HPO:0001355) Megalencephaly 39 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Megalencephalic leukoencephalopathy with subcortical cysts is a leukodystrophy characterized by early-onset macrocephaly and delayed-onset neurologic deterioration, including cerebellar ataxia, spasticity, epilepsy, and mild cognitive decline (summary by Lopez-Hernandez et al., 2011).

- Genetic Heterogeneity of Megalencephalic ...

Clinical Description OMIM Van der Knaap et al. (1995) described a syndrome of cerebral leukoencephalopathy and megalencephaly with infantile onset in 8 children, including 2 sibs. Neurologic findings were initially normal or near normal, despite megalencephaly and magnetic resonance imaging (MRI) ...
Molecular genetics OMIM In 7 informative and 6 uninformative families with MLC, Leegwater et al. (2001) identified 12 different mutations in the MLC1 gene (see, e.g., 605908.0001).

In 13 of 18 patients with MLC, Patrono et al. (2003) identified ...