MCID: INF129
MIFTS: 35

Infantile Cerebellar-Retinal Degeneration

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Metabolic diseases

Aliases & Classifications for Infantile Cerebellar-Retinal Degeneration

MalaCards integrated aliases for Infantile Cerebellar-Retinal Degeneration:

Name: Infantile Cerebellar-Retinal Degeneration 57 12 53 59 75 29 13 6 15 73
Icrd 57 53 75
Degeneration, Cerebellar-Retinal, Infantile 40
Infantile Cerebellar Retinal Degeneration 53

Characteristics:

Orphanet epidemiological data:

59
infantile cerebellar-retinal degeneration
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy


HPO:

32
infantile cerebellar-retinal degeneration:
Onset and clinical course infantile onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Infantile Cerebellar-Retinal Degeneration

NIH Rare Diseases : 53 Infantile cerebellar retinal degeneration (ICRD) is a genetic condition present from birth (congenital) that involves the brain and eyes. Individuals with this condition usually develop symptoms around six months of age including developmental delays, low muscle tone (hypotonia), and seizures. Other symptoms may include head bobbing, abnormal muscle twitching and movement, and loss of brain cells in the main part of the brain called the cerebellum. Eye findings in individuals with this condition may include retinal degeneration (weakening of the layer of tissue in the back of the eye that senses light), strabismus (crossed eyes), and nystagmus (fast, uncontrollable movements of the eyes). ICRD is caused by mutations in the ACO2 gene and is inherited in an autosomal recessive manner. While there is still no cure for this condition, treatment options will depend on the type and severity of symptoms. 

MalaCards based summary : Infantile Cerebellar-Retinal Degeneration, also known as icrd, is related to retinitis and retinal degeneration, and has symptoms including ataxia, athetosis and seizures. An important gene associated with Infantile Cerebellar-Retinal Degeneration is ACO2 (Aconitase 2), and among its related pathways/superpathways are Metabolism and Carbon metabolism. Affiliated tissues include brain, eye and cerebellum, and related phenotypes are progressive microcephaly and sensorineural hearing impairment

OMIM : 57 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 retardation, with only some achieving rolling, sitting, or recognition of family. Brain MRI shows progressive cerebral and cerebellar degeneration (summary by Spiegel et al., 2012). (614559)

UniProtKB/Swiss-Prot : 75 Infantile cerebellar-retinal degeneration: 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 retardation, with only some achieving rolling, sitting, or recognition of family. Brain MRI shows progressive cerebral and cerebellar degeneration.

Disease Ontology : 12 A neurodegenerative disease that is characterized by onset between ages 2 and 6 months of truncal hypotonia, athetosis, seizures, and ophthalmologic abnormalities, particularly optic atrophy and retinal degeneration.

Related Diseases for Infantile Cerebellar-Retinal Degeneration

Diseases related to Infantile Cerebellar-Retinal Degeneration via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 retinitis 10.0
2 retinal degeneration 10.0
3 optic atrophy 9 9.7 ACO2 POLR3H
4 friedreich ataxia 1 8.9 ACO1 ISCU

Symptoms & Phenotypes for Infantile Cerebellar-Retinal Degeneration

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
nystagmus
optic atrophy
strabismus
retinal dystrophy
abnormal pursuit

Growth Other:
failure to thrive

Growth Weight:
low weight

Head And Neck Ears:
hearing loss, sensorineural (in 2 patients)

Neurologic Central Nervous System:
seizures
ataxia
athetosis
hypotonia
thin corpus callosum
more
Neurologic Peripheral Nervous System:
areflexia
hyporeflexia
peripheral demyelinating neuropathy

Head And Neck Head:
microcephaly, progressive

Muscle Soft Tissue:
decreased glutamate oxidation (about 63% of normal)


Clinical features from OMIM:

614559

Human phenotypes related to Infantile Cerebellar-Retinal Degeneration:

32 (show all 19)
# Description HPO Frequency HPO Source Accession
1 progressive microcephaly 32 HP:0000253
2 sensorineural hearing impairment 32 occasional (7.5%) HP:0000407
3 strabismus 32 HP:0000486
4 retinal dystrophy 32 HP:0000556
5 nystagmus 32 HP:0000639
6 optic atrophy 32 HP:0000648
7 seizures 32 HP:0001250
8 ataxia 32 HP:0001251
9 hyporeflexia 32 HP:0001265
10 cerebellar atrophy 32 HP:0001272
11 areflexia 32 HP:0001284
12 generalized hypotonia 32 HP:0001290
13 failure to thrive 32 HP:0001508
14 hypoplasia of the corpus callosum 32 HP:0002079
15 cerebral cortical atrophy 32 HP:0002120
16 athetosis 32 HP:0002305
17 demyelinating peripheral neuropathy 32 HP:0007108
18 intellectual disability, severe 32 HP:0010864
19 severe global developmental delay 32 HP:0011344

UMLS symptoms related to Infantile Cerebellar-Retinal Degeneration:


ataxia, athetosis, seizures

Drugs & Therapeutics for Infantile Cerebellar-Retinal Degeneration

Search Clinical Trials , NIH Clinical Center for Infantile Cerebellar-Retinal Degeneration

Genetic Tests for Infantile Cerebellar-Retinal Degeneration

Genetic tests related to Infantile Cerebellar-Retinal Degeneration:

# Genetic test Affiliating Genes
1 Infantile Cerebellar-Retinal Degeneration 29 ACO2

Anatomical Context for Infantile Cerebellar-Retinal Degeneration

MalaCards organs/tissues related to Infantile Cerebellar-Retinal Degeneration:

41
Brain, Eye, Cerebellum

Publications for Infantile Cerebellar-Retinal Degeneration

Articles related to Infantile Cerebellar-Retinal Degeneration:

# Title Authors Year
1
Infantile Cerebellar-Retinal Degeneration Associated with a Mutation in Mitochondrial Aconitase, ACO2. ( 22405087 )
2012

Variations for Infantile Cerebellar-Retinal Degeneration

UniProtKB/Swiss-Prot genetic disease variations for Infantile Cerebellar-Retinal Degeneration:

75
# Symbol AA change Variation ID SNP ID
1 ACO2 p.Ser112Arg VAR_067543 rs786200924
2 ACO2 p.Gly259Asp VAR_073436 rs786204828
3 ACO2 p.Lys736Asn VAR_073438 rs786204829

ClinVar genetic disease variations for Infantile Cerebellar-Retinal Degeneration:

6
(show all 16)
# Gene Variation Type Significance SNP ID Assembly Location
1 ACO2 NM_001098.2(ACO2): c.336C> G (p.Ser112Arg) single nucleotide variant Pathogenic rs786200924 GRCh37 Chromosome 22, 41903957: 41903957
2 ACO2 NM_001098.2(ACO2): c.336C> G (p.Ser112Arg) single nucleotide variant Pathogenic rs786200924 GRCh38 Chromosome 22, 41507953: 41507953
3 ACO2 NM_001098.2(ACO2): c.776G> A (p.Gly259Asp) single nucleotide variant Pathogenic rs786204828 GRCh37 Chromosome 22, 41911862: 41911862
4 ACO2 NM_001098.2(ACO2): c.776G> A (p.Gly259Asp) single nucleotide variant Pathogenic rs786204828 GRCh38 Chromosome 22, 41515858: 41515858
5 ACO2 NM_001098.2(ACO2): c.2208G> C (p.Lys736Asn) single nucleotide variant Pathogenic rs786204829 GRCh37 Chromosome 22, 41924026: 41924026
6 ACO2 NM_001098.2(ACO2): c.2208G> C (p.Lys736Asn) single nucleotide variant Pathogenic rs786204829 GRCh38 Chromosome 22, 41528022: 41528022
7 ACO2 NM_001098.2(ACO2): c.2328_2331delGGAA (p.Lys776Asnfs) deletion Pathogenic rs786204830 GRCh37 Chromosome 22, 41924602: 41924605
8 ACO2 NM_001098.2(ACO2): c.2328_2331delGGAA (p.Lys776Asnfs) deletion Pathogenic rs786204830 GRCh38 Chromosome 22, 41528598: 41528601
9 ACO2 NM_001098.2(ACO2): c.1819C> T (p.Arg607Cys) single nucleotide variant Likely pathogenic rs864309499 GRCh37 Chromosome 22, 41922323: 41922323
10 ACO2 NM_001098.2(ACO2): c.1819C> T (p.Arg607Cys) single nucleotide variant Likely pathogenic rs864309499 GRCh38 Chromosome 22, 41526319: 41526319
11 ACO2 NM_001098.2(ACO2): c.2135C> T (p.Pro712Leu) single nucleotide variant Likely pathogenic rs375761361 GRCh37 Chromosome 22, 41923953: 41923953
12 ACO2 NM_001098.2(ACO2): c.2135C> T (p.Pro712Leu) single nucleotide variant Likely pathogenic rs375761361 GRCh38 Chromosome 22, 41527949: 41527949
13 ACO2 NM_001098.2(ACO2): c.2337_2338delAC (p.Gln780Valfs) deletion Pathogenic rs1114167284 GRCh38 Chromosome 22, 41528607: 41528608
14 ACO2 NM_001098.2(ACO2): c.2337_2338delAC (p.Gln780Valfs) deletion Pathogenic rs1114167284 GRCh37 Chromosome 22, 41924611: 41924612
15 ACO2 NM_001098.2(ACO2): c.1550C> T (p.Thr517Met) single nucleotide variant Likely pathogenic rs540169523 GRCh38 Chromosome 22, 41524913: 41524913
16 ACO2 NM_001098.2(ACO2): c.1550C> T (p.Thr517Met) single nucleotide variant Likely pathogenic rs540169523 GRCh37 Chromosome 22, 41920917: 41920917

Expression for Infantile Cerebellar-Retinal Degeneration

Search GEO for disease gene expression data for Infantile Cerebellar-Retinal Degeneration.

Pathways for Infantile Cerebellar-Retinal Degeneration

GO Terms for Infantile Cerebellar-Retinal Degeneration

Biological processes related to Infantile Cerebellar-Retinal Degeneration according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cellular iron ion homeostasis GO:0006879 9.16 ACO1 ISCU
2 tricarboxylic acid cycle GO:0006099 8.96 ACO1 ACO2
3 citrate metabolic process GO:0006101 8.62 ACO1 ACO2

Molecular functions related to Infantile Cerebellar-Retinal Degeneration according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 iron ion binding GO:0005506 9.5 ACO2 FA2H ISCU
2 iron-sulfur cluster binding GO:0051536 9.43 ACO1 ACO2 ISCU
3 lyase activity GO:0016829 9.37 ACO1 ACO2
4 3 iron, 4 sulfur cluster binding GO:0051538 9.16 ACO1 ACO2
5 aconitate hydratase activity GO:0003994 8.96 ACO1 ACO2
6 4 iron, 4 sulfur cluster binding GO:0051539 8.8 ACO1 ACO2 ISCU

Sources for Infantile Cerebellar-Retinal Degeneration

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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