Infantile cerebellar-retinal degeneration

General Information (adopted from Orphanet):

Synonyms, Signs: ICRD
Mitochondrial aconitase deficiency
Number of Symptoms 36
OrphanetNr: 313850
OMIM Id: 614559
ICD-10: E88.8
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: Genetic neurodegenerative disease
 -Rare genetic disease
Neurometabolic disease
 -Rare genetic disease
 -Rare neurologic disease
Rare neurodegenerative disease
 -Rare neurologic disease
Retinal dystrophy
 -Rare eye disease
 -Rare genetic disease
Tricarboxylic acid cycle disorder
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000253) Progressive microcephaly 37 / 7739
2
 (HPO:0000556) Retinal dystrophy 65 / 7739
3
 (HPO:0000648) Optic atrophy 238 / 7739
4
 (HPO:0000639) Nystagmus 555 / 7739
5
 (HPO:0000486) Strabismus 576 / 7739
6
 (HPO:0008625) Severe sensorineural hearing impairment 150 / 7739
7
 (HPO:0000407) Sensorineural hearing impairment rare [HPO:skoehler] 524 / 7739
8
 (HPO:0008527) Congenital sensorineural hearing impairment 165 / 7739
9
 (HPO:0001284) Areflexia 198 / 7739
10
 (HPO:0001265) Hyporeflexia 208 / 7739
11
 (HPO:0001250) Seizures 1245 / 7739
12
 (HPO:0007108) Demyelinating peripheral neuropathy 8 / 7739
13
 (HPO:0001251) Ataxia 413 / 7739
14
 (HPO:0002305) Athetosis 31 / 7739
15
 (HPO:0011344) Severe global developmental delay 46 / 7739
16
 (HPO:0010864) Intellectual disability, severe 120 / 7739
17
 (HPO:0001508) Failure to thrive 454 / 7739
18
 (HPO:0004325) Decreased body weight 492 / 7739
19
 (HPO:0001324) Muscle weakness 859 / 7739
20
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
21
 (HPO:0001252) Muscular hypotonia 990 / 7739
22
 (HPO:0010547) Muscle flaccidity 466 / 7739
23
 (HPO:0002500) Abnormality of the cerebral white matter 73 / 7739
24
 (OMIM) Mental retardation, severe to profound 4 / 7739
25
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
26
 (OMIM) Cerebellar atrophy, progressive 6 / 7739
27
 (OMIM) Head bobbing 1 / 7739
28
 (OMIM) Decreased glutamate oxidation (about 63% of normal) 1 / 7739
29
 (OMIM) Peripheral demyelinating neuropathy 1 / 7739
30
 (HPO:0001272) Cerebellar atrophy 197 / 7739
31
 (OMIM) Delayed psychomotor development, severe 14 / 7739
32
 (OMIM) Abnormal pursuit 1 / 7739
33
 (HPO:0002079) Hypoplasia of the corpus callosum 161 / 7739
34
 (OMIM) Cortical atrophy, progressive 1 / 7739
35
 (OMIM) Only some achieve rolling or sitting 1 / 7739
36
 (HPO:0002120) Cerebral cortical atrophy 187 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Infantile cerebellar-retinal degeneration is a severe autosomal recessive neurodegenerative disorder characterized by onset between ages 2 and 6 months of truncal hypotonia, athetosis, seizures, and ophthalmologic abnormalities, particularly optic atrophy and retinal degeneration. Affected individuals show profound psychomotor ...
Clinical Description OMIM Spiegel et al. (2012) reported 8 patients from 2 Arab Muslim families with a severe infantile-onset neurodegenerative disorder. The patients presented at age 2 to 6 months with truncal hypotonia, head bobbing, athetosis, generalized seizures, and ophthalmologic abnormalities ...
Molecular genetics OMIM By homozygosity mapping followed by exome sequencing of 2 families with infantile cerebellar-retinal degeneration, Spiegel et al. (2012) identified a homozygous mutation in the ACO2 gene (100850.0001).