MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2A

General Information (adopted from Orphanet):

Synonyms, Signs: MLC2A
Number of Symptoms 22
OrphanetNr:
OMIM Id: 613925
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

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:0001251) Ataxia 413 / 7739
4
(HPO:0001249) Intellectual disability 1089 / 7739
5
(HPO:0001268) Mental deterioration 88 / 7739
6
(HPO:0001257) Spasticity 251 / 7739
7
(HPO:0001276) Hypertonia 317 / 7739
8
(HPO:0001250) Seizures 1245 / 7739
9
(HPO:0002344) Progressive neurologic deterioration 27 / 7739
10
(HPO:0001260) Dysarthria 329 / 7739
11
(OMIM) Diffuse white matter abnormalities on brain MRI 1 / 7739
12
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
13
(HPO:0001272) Cerebellar atrophy 197 / 7739
14
(HPO:0007341) Diffuse swelling of cerebral white matter 5 / 7739
15
(OMIM) Subcortical cysts may occur elsewhere 1 / 7739
16
(HPO:0002059) Cerebral atrophy 171 / 7739
17
(OMIM) Cavum septi pellucidi 3 / 7739
18
(OMIM) Subcortical cysts in frontal and temporal lobes 1 / 7739
19
(OMIM) Cavum Vergae 4 / 7739
20
(HPO:0002119) Ventriculomegaly 253 / 7739
21
(HPO:0001355) Megalencephaly 39 / 7739
22
(HPO:0003677) Slow progression 134 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Megalencephalic leukoencephalopathy with subcortical cysts-2A is an autosomal recessive neurodegenerative disorder characterized by infantile-onset macrocephaly and later onset of motor deterioration, with ataxia and spasticity, seizures, and cognitive decline of variable severity. Brain MRI shows typical white matter ...
Clinical Description OMIM Lopez-Hernandez et al. (2011) reported 10 patients from 8 families with MLC2A. All had onset of macrocephaly in the first year of life, and most showed mildly delayed motor development. Neurologic deterioration occurred between age 1 and 6 ...
Molecular genetics OMIM In 10 patients from 8 families with megalencephalic leukoencephalopathy with subcortical cysts-2A, Lopez-Hernandez et al. (2011) identified homozygous or compound heterozygous mutations in the HEPACAM gene (see, e.g., 611642.0001-611642.0005).