Pelizaeus-Merzbacher-like due to GJC2 mutation

General Information (adopted from Orphanet):

Synonyms, Signs: PELIZAEUS-MERZBACHER-LIKE DISEASE, 1
PMLD1
HLD2
Number of Symptoms 34
OrphanetNr: 280282
OMIM Id: 608804
ICD-10: E75.2
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: Pelizaeus-Merzbacher-like disease
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0010628) Facial palsy 146 / 7739
2
 (HPO:0000648) Optic atrophy 238 / 7739
3
 (HPO:0000545) Myopia 286 / 7739
4
 (HPO:0001583) Rotary nystagmus 7 / 7739
5
 (HPO:0001270) Motor delay 322 / 7739
6
 (HPO:0002465) Poor speech 31 / 7739
7
 (HPO:0001250) Seizures 1245 / 7739
8
 (HPO:0001266) Choreoathetosis 57 / 7739
9
 (HPO:0100543) Cognitive impairment 230 / 7739
10
 (HPO:0002063) Rigidity 92 / 7739
11
 (HPO:0003431) Decreased motor nerve conduction velocity 51 / 7739
12
 (HPO:0001260) Dysarthria 329 / 7739
13
 (HPO:0007220) Demyelinating motor neuropathy 3 / 7739
14
 (HPO:0001251) Ataxia 413 / 7739
15
 (HPO:0002080) Intention tremor 44 / 7739
16
 (HPO:0001332) Dystonia 197 / 7739
17
 (HPO:0003390) Sensory axonal neuropathy 26 / 7739
18
 (HPO:0002191) Progressive spasticity 12 / 7739
19
 (HPO:0001263) Global developmental delay 853 / 7739
20
 (HPO:0002313) Spastic paraparesis 33 / 7739
21
 (HPO:0002599) Head titubation 7 / 7739
22
 (HPO:0003487) Babinski sign 179 / 7739
23
 (HPO:0008936) Muscular hypotonia of the trunk 77 / 7739
24
 (OMIM) Poor head and trunk control in infancy 1 / 7739
25
 (OMIM) MRI shows diffuse white matter hyperintensities on T2-weighted imaging 1 / 7739
26
 (HPO:0006808) Cerebral hypomyelination 16 / 7739
27
 (HPO:0003593) Infantile onset 249 / 7739
28
 (OMIM) Peripheral neuropathy, mild (less common) 1 / 7739
29
 (HPO:0002059) Cerebral atrophy 171 / 7739
30
 (HPO:0002415) Leukodystrophy 30 / 7739
31
 (OMIM) Loss of white matter 1 / 7739
32
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
33
 (OMIM) Mental impairment, mild to moderate 1 / 7739
34
 (OMIM) Leukodystrophy, hypomyelinating 3 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) For a general phenotypic description and a discussion of genetic heterogeneity of HLD, see 312080.

The hypomyelinating leukodystrophy Pelizaeus-Merzbacher disease (PMD; 312080) is an X-linked disorder characterized by nystagmus, progressive spasticity, and ataxia. Uhlenberg et al. ...
Diagnosis OMIM - Differential Diagnosis

In a retrospective study of neurophysiologic results from 10 patients with PMLD1 and 8 with classic PMD, Henneke et al. (2010) found that that brainstem auditory evoked potentials (BAEP) were significantly worse among ...
Clinical Description OMIM Uhlenberg et al. (2004) described a consanguineous Turkish family in which multiple members showed the characteristic clinical symptoms of PMD, such as nystagmus, impaired motor development, ataxia, choreoathetotic movements, dysarthria, and progressive spasticity. Nystagmus and poor head and ...
Molecular genetics OMIM Uhlenberg et al. (2004) studied 6 families with PMLD. In 1 Turkish consanguineous family and 2 German nonconsanguineous families, they identified 5 different mutations in the GJA12 gene (608803.0001-608803.0005). In the other 3 affected families, they found no ...