Pelizaeus-Merzbacher-like due to HSPD1 mutation

General Information (adopted from Orphanet):

Synonyms, Signs: MITCHAP60 DISEASE
HLD4
mitochondrial hsp60 chaperonopathy
Number of Symptoms 27
OrphanetNr: 280288
OMIM Id: 612233
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:0005484) Postnatal microcephaly 32 / 7739
2
 (HPO:0000639) Nystagmus 555 / 7739
3
 (HPO:0000486) Strabismus 576 / 7739
4
 (HPO:0002191) Progressive spasticity 12 / 7739
5
 (HPO:0001263) Global developmental delay 853 / 7739
6
 (HPO:0002187) Intellectual disability, profound 44 / 7739
7
 (HPO:0003487) Babinski sign 179 / 7739
8
 (HPO:0001347) Hyperreflexia 363 / 7739
9
 (HPO:0001250) Seizures 1245 / 7739
10
 (HPO:0001266) Choreoathetosis 57 / 7739
11
 (HPO:0001371) Flexion contracture 220 / 7739
12
 (HPO:0011968) Feeding difficulties 240 / 7739
13
 (HPO:0008872) Feeding difficulties in infancy 153 / 7739
14
 (HPO:0002104) Apnea 106 / 7739
15
 (HPO:0001324) Muscle weakness 859 / 7739
16
 (HPO:0010547) Muscle flaccidity 466 / 7739
17
 (HPO:0001252) Muscular hypotonia 990 / 7739
18
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
19
 (OMIM) No head control 2 / 7739
20
 (OMIM) Leukodystrophy, hypomyelinating 3 / 7739
21
 (OMIM) Serum lactate may be increased during encephalopathic exacerbations 1 / 7739
22
 (OMIM) MRI shows no normal myelination 1 / 7739
23
 (OMIM) Shallow breathing 3 / 7739
24
 (HPO:0002415) Leukodystrophy 30 / 7739
25
 (HPO:0003623) Neonatal onset 22 / 7739
26
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
27
 (OMIM) Intermittent increase of urinary ethylmalonic acid 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Magen et al. (2008) reported a large consanguineous Israeli Bedouin family with an autosomal recessive form of severe hypomyelinating leukoencephalopathy. Ten patients were examined in detail. All had onset between birth and age 3 months of hypotonia, nystagmus, ...
Molecular genetics OMIM By linkage studies, followed by candidate gene analysis, of a large Israeli Bedouin family with autosomal recessive hypomyelinating leukodystrophy, Magen et al. (2008) identified a homozygous mutation in the HSPD1 gene (118190.0002). The authors suggested the designation 'MitCHAP60 ...