Corpus callosum agenesis - neuronopathy

General Information (adopted from Orphanet):

Synonyms, Signs: CORPUS CALLOSUM, AGENESIS OF, WITH NEURONOPATHY
POLYNEUROPATHY, SENSORIMOTOR, WITH OR WITHOUT AGENESIS OF THE CORPUS CALLOSUM
ACCPN
charlevoix disease
andermann syndrome
Number of Symptoms 74
OrphanetNr: 1496
OMIM Id: 218000
ICD-10: G60.0
UMLs: C0795950
MeSH: C536446
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Antenatal
Neonatal
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic syndrome with corpus callosum agenesis /dysgenesis as a major feature
 -Rare genetic disease
Spinal muscular atrophy associated with central nervous system anomaly
 -Rare genetic disease
 -Rare neurologic disease
Syndrome with corpus callosum agenesis /dysgenesis as a major feature
 -Rare developmental defect during embryogenesis
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
(HPO:0000431) Wide nasal bridge 290 / 7739
2
(HPO:0001363) Craniosynostosis Occasional [Orphanet] 132 / 7739
3
(HPO:0000248) Brachycephaly 222 / 7739
4
(HPO:0000252) Microcephaly Very frequent [Orphanet] 832 / 7739
5
(HPO:0000324) Facial asymmetry 57 / 7739
6
(HPO:0000262) Turricephaly Occasional [Orphanet] 38 / 7739
7
(HPO:0000276) Long face 109 / 7739
8
(HPO:0003196) Short nose 264 / 7739
9
(HPO:0000218) High palate 356 / 7739
10
(HPO:0000316) Hypertelorism 644 / 7739
11
(HPO:0000327) Hypoplasia of the maxilla 129 / 7739
12
(HPO:0000294) Low anterior hairline 52 / 7739
13
(HPO:0000341) Narrow forehead 96 / 7739
14
(HPO:0001349) Facial diplegia 16 / 7739
15
(HPO:0000486) Strabismus Occasional [Orphanet] 576 / 7739
16
(HPO:0000510) Rod-cone dystrophy Occasional [Orphanet] 266 / 7739
17
(HPO:0000508) Ptosis 459 / 7739
18
(HPO:0000639) Nystagmus Occasional [Orphanet] 555 / 7739
19
(HPO:0000545) Myopia Occasional [Orphanet] 286 / 7739
20
(HPO:0000400) Macrotia 108 / 7739
21
(HPO:0003477) Peripheral axonal neuropathy 62 / 7739
22
(HPO:0001263) Global developmental delay 853 / 7739
23
(HPO:0001249) Intellectual disability 1089 / 7739
24
(HPO:0002922) Increased CSF protein 27 / 7739
25
(HPO:0001270) Motor delay 322 / 7739
26
(HPO:0000763) Sensory neuropathy 78 / 7739
27
(HPO:0000709) Psychosis 61 / 7739
28
(HPO:0003431) Decreased motor nerve conduction velocity 51 / 7739
29
(HPO:0007178) Motor polyneuropathy 31 / 7739
30
(HPO:0003383) Onion bulb formation 30 / 7739
31
(HPO:0001284) Areflexia 198 / 7739
32
(HPO:0001250) Seizures Very frequent [Orphanet] 1245 / 7739
33
(HPO:0003378) Axonal degeneration/regeneration 12 / 7739
34
(HPO:0001271) Polyneuropathy 56 / 7739
35
(HPO:0004374) Hemiplegia/hemiparesis Very frequent [Orphanet] 158 / 7739
36
(HPO:0200085) Limb tremor 6 / 7739
37
(HPO:0003448) Decreased sensory nerve conduction velocity 9 / 7739
38
(HPO:0002353) EEG abnormality Very frequent [Orphanet] 188 / 7739
39
(HPO:0002650) Scoliosis 705 / 7739
40
(HPO:0001182) Tapered finger 93 / 7739
41
(HPO:0001371) Flexion contracture 220 / 7739
42
(HPO:0004691) 2-3 toe syndactyly 50 / 7739
43
(HPO:0011947) Respiratory tract infection 28 / 7739
44
(HPO:0002111) Restrictive deficit on pulmonary function testing 25 / 7739
45
(HPO:0001319) Neonatal hypotonia 101 / 7739
46
(HPO:0003202) Skeletal muscle atrophy 281 / 7739
47
(HPO:0001290) Generalized hypotonia 51 / 7739
48
(HPO:0003690) Limb muscle weakness 41 / 7739
49
(HPO:0003444) EMG: chronic denervation signs 5 / 7739
50
(OMIM) Demyelinating neuropathy 2 / 7739
51
(HPO:0001274) Agenesis of corpus callosum 142 / 7739
52
(HPO:0007370) Aplasia/Hypoplasia of the corpus callosum Very frequent [Orphanet] 180 / 7739
53
(HPO:0003676) Progressive disorder 148 / 7739
54
(OMIM) Axonal swelling of spinal nerve roots and cranial nerves 1 / 7739
55
(HPO:0002119) Ventriculomegaly 253 / 7739
56
(OMIM) Hallucinatory psychosis develops during adolescence 1 / 7739
57
(OMIM) Peripheral sensory neuropathy, severe 1 / 7739
58
(OMIM) Progressive distal and proximal symmetric limb weakness 1 / 7739
59
(MedDRA:10056696) Gaze palsy 3 / 7739
60
(OMIM) EMG shows denervation 1 / 7739
61
(HPO:0002410) Aqueductal stenosis Frequent [Orphanet] 19 / 7739
62
(HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
63
(OMIM) Protruding, fissured tongue 1 / 7739
64
(OMIM) Decreased motor and sensory nerve conduction velocities 1 / 7739
65
(OMIM) Peripheral motor neuropathy, severe 1 / 7739
66
(OMIM) Sural nerve biopsy shows absence of large myelinated fibers 1 / 7739
67
(OMIM) Overriding of the first toe 1 / 7739
68
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
69
(OMIM) Individuals can stand or walk with support by 4 to 6 years of age 1 / 7739
70
(OMIM) Mental retardation, mild to severe 14 / 7739
71
(OMIM) Syndactyly of the second and third toes 2 / 7739
72
(OMIM) Low hairline 4 / 7739
73
(OMIM) Long tapered fingers 3 / 7739
74
(OMIM) Hypomyelinated fibers 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Andermann syndrome is an autosomal recessive motor and sensory neuropathy with agenesis of the corpus callosum associated with developmental and neurodegenerative defects and dysmorphic features. It has a high prevalence in the French Canadian population in the Charlevoix ...
Clinical Description OMIM Naiman and Fraser (1955) described 2 sisters, and Ziegler (1958) described 2 brothers with agenesis of the corpus callosum associated with mental and physical retardation. Andermann et al. (1972) observed 2 brothers with mental retardation, areflexia and paraparesis. ...
Molecular genetics OMIM The K-Cl cotransporter KCC3, encoded by the SLC12A6 gene, maps within the ACCPN candidate region, prompting Howard et al. (2002) to screen that gene for mutations in individuals with ACCPN. Four distinct protein-truncated mutations (604878.0001-604878.0004) were found: 2 ...
Population genetics OMIM De Braekeleer et al. (1993) estimated that in the Saguenay-Lac-Saint-Jean region of northeastern Quebec the incidence at birth was 1 in 2,117 liveborns, and the carrier rate was 1 in 23 inhabitants. Remote consanguinity was found in several ...
Diagnosis GeneReviews Hereditary motor and sensory neuropathy with agenesis of the corpus callosum (HMSN/ACC), a neurodevelopmental and neurodegenerative disorder, is characterized by the following [Dupré et al 2003]:...
Clinical Description GeneReviews The main features of HMSN/ACC in the French-Canadian population were reported by Larbrisseau et al [1984] and Mathieu et al [1990]....
Genotype-Phenotype Correlations GeneReviews In the French-Canadian population, the exon 18 mutation is present in almost all affected individuals. A single individual was identified as a compound heterozygote for the exon 18 mutation and the exon 11 mutation, and this individual's phenotype did not differ significantly from that of the other individuals of French-Canadian descent. ...
Differential Diagnosis GeneReviews Severe early-onset autosomal recessive hereditary neuropathies (i.e., those classified as Charcot-Marie-Tooth hereditary neuropathy type 4, CMT4) may be considered as a differential diagnosis....
Management GeneReviews To establish the extent of disease in an individual diagnosed with hereditary motor and sensory neuropathy with agenesis of the corpus callosum (HMSN/ACC), the following evaluations are recommended:...
Molecular genetics GeneReviews Information in the Molecular Genetics and OMIM tables may differ from that elsewhere in the GeneReview: tables may contain more recent information. —ED....