Pelizaeus-Merzbacher disease

General Information (adopted from Orphanet):

Synonyms, Signs: PMD
Diffuse familial brain sclerosis
Pelizaeus-Merzbacher brain sclerosis
Sudanophilic leukodystrophy, Paelizeus-Merzbacher type
Number of Symptoms 37
OrphanetNr: 702
OMIM Id: 213900
312080
ICD-10: E75.2
UMLs: C0205711
MeSH: D020371
MedDRA: 10067610
Snomed: 64855000

Prevalence, inheritance and age of onset:

Prevalence: 0.25 of 100 000 [Orphanet]
Inheritance: X-linked recessive
X-linked dominant
[Orphanet]
Age of onset: All ages
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Abnormal eye movements
 -Rare eye disease
 -Rare genetic disease
Genetic neurodegenerative disease
 -Rare genetic disease
Leukodystrophy
 -Rare genetic disease
 -Rare neurologic disease
Rare neurodegenerative disease
 -Rare neurologic disease
X-linked recessive optic atrophy
 -Rare eye disease
 -Rare genetic disease
X-linked syndromic intellectual deficit
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000079) Abnormality of the urinary system Frequent [Orphanet] 88 / 7739
2
 (HPO:0000252) Microcephaly Frequent [Orphanet] 832 / 7739
3
 (HPO:0000649) Abnormality of visual evoked potentials Frequent [Orphanet] 34 / 7739
4
 (HPO:0000639) Nystagmus Very frequent [Orphanet] 555 / 7739
5
 (HPO:0000505) Visual impairment Very frequent [Orphanet] 297 / 7739
6
 (HPO:0000365) Hearing impairment Frequent [Orphanet] 539 / 7739
7
 (HPO:0001288) Gait disturbance Very frequent [Orphanet] 318 / 7739
8
 (HPO:0001276) Hypertonia Very frequent [Orphanet] 317 / 7739
9
 (HPO:0002167) Neurological speech impairment Frequent [Orphanet] 308 / 7739
10
 (HPO:0100543) Cognitive impairment Very frequent [Orphanet] 230 / 7739
11
 (HPO:0001332) Dystonia Frequent [Orphanet] 197 / 7739
12
 (HPO:0001250) Seizures Frequent [Orphanet] 1245 / 7739
13
 (HPO:0000708) Behavioral abnormality Very frequent [Orphanet] 212 / 7739
14
 (HPO:0002066) Gait ataxia Very frequent [Orphanet] 327 / 7739
15
 (HPO:0100022) Abnormality of movement Very frequent [Orphanet] 129 / 7739
16
 (HPO:0011442) Abnormality of central motor function Very frequent [Orphanet] 76 / 7739
17
 (HPO:0009830) Peripheral neuropathy Occasional [Orphanet] 206 / 7739
18
 (HPO:0000707) Abnormality of the nervous system 61 / 7739
19
 (HPO:0004305) Involuntary movements Frequent [Orphanet] 50 / 7739
20
 (HPO:0001387) Joint stiffness Very frequent [Orphanet] 322 / 7739
21
 (HPO:0002808) Kyphosis Very frequent [Orphanet] 289 / 7739
22
 (HPO:0002650) Scoliosis Very frequent [Orphanet] 705 / 7739
23
 (HPO:0001622) Premature birth Very frequent [Orphanet] 100 / 7739
24
 (HPO:0002607) Bowel incontinence Frequent [Orphanet] 33 / 7739
25
 (HPO:0004326) Cachexia Very frequent [Orphanet] 71 / 7739
26
 (HPO:0004322) Short stature Frequent [Orphanet] 1232 / 7739
27
 (HPO:0004325) Decreased body weight Very frequent [Orphanet] 492 / 7739
28
 (HPO:0100026) Arteriovenous malformation Frequent [Orphanet] 38 / 7739
29
 (HPO:0001939) Abnormality of metabolism/homeostasis 328 / 7739
30
 (HPO:0002205) Recurrent respiratory infections Frequent [Orphanet] 254 / 7739
31
 (HPO:0002093) Respiratory insufficiency Frequent [Orphanet] 410 / 7739
32
 (HPO:0001252) Muscular hypotonia Very frequent [Orphanet] 990 / 7739
33
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
34
 (HPO:0012795) Abnormality of the optic disc Very frequent [Orphanet] 187 / 7739
35
 (HPO:0012758) Neurodevelopmental delay Frequent [Orphanet] 949 / 7739
36
 (HPO:0001522) Death in infancy Occasional [Orphanet] 275 / 7739
37
 (HPO:0002120) Cerebral cortical atrophy Very frequent [Orphanet] 187 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: