Pelizaeus-Merzbacher-like due to AIMP1 mutation

General Information (adopted from Orphanet):

Synonyms, Signs: HLD3
Number of Symptoms 22
OrphanetNr: 280293
OMIM Id: 260600
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:0000252) Microcephaly 832 / 7739
2
 (HPO:0000280) Coarse facial features 189 / 7739
3
 (HPO:0000505) Visual impairment 297 / 7739
4
 (HPO:0007256) Abnormal pyramidal signs 116 / 7739
5
 (HPO:0002353) EEG abnormality 188 / 7739
6
 (HPO:0001327) Photomyoclonic seizures 125 / 7739
7
 (HPO:0001250) Seizures 1245 / 7739
8
 (HPO:0011344) Severe global developmental delay 46 / 7739
9
 (HPO:0002313) Spastic paraparesis 33 / 7739
10
 (HPO:0002751) Kyphoscoliosis 131 / 7739
11
 (HPO:0005876) Progressive flexion contractures 4 / 7739
12
 (HPO:0001508) Failure to thrive 454 / 7739
13
 (HPO:0008936) Muscular hypotonia of the trunk 77 / 7739
14
 (OMIM) Horizontal or rotary nystagmus 1 / 7739
15
 (HPO:0007371) Corpus callosum atrophy 14 / 7739
16
 (HPO:0002283) Global brain atrophy 12 / 7739
17
 (OMIM) Decreased N-acetylaspartate 1 / 7739
18
 (OMIM) Pale fundi 1 / 7739
19
 (OMIM) Slow pupillary reflexes 1 / 7739
20
 (OMIM) No speech acquisition 1 / 7739
21
 (OMIM) Atrophy of the lower limbs 1 / 7739
22
 (OMIM) Brain MRI shows arrest in myelination 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Autosomal recessive hypomyelinating leukodystrophy-3 (HLD3) is a severe neurologic disorder characterized by early infantile onset of global developmental delay, lack of development, lack of speech acquisition, and peripheral spasticity associated with decreased myelination in the central nervous system ...
Clinical Description OMIM - Early Descriptions

Nisenbaum et al. (1965) described a family in which 6 of 7 sibs (3 males and 3 females) died in the first months of life from an infantile disease resembling Pelizaeus-Merzbacher disease. The ...
Molecular genetics OMIM In affected members of a large consanguineous Israeli Bedouin kindred with infantile onset of hypomyelinating leukodystrophy-3, Feinstein et al. (2010) identified a homozygous mutation in the AIMP1 gene (603605.0001).