ACCPN
MCID: AGN003
MIFTS: 46

Agenesis of the Corpus Callosum with Peripheral Neuropathy (ACCPN)

Categories: Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Agenesis of the Corpus Callosum with Peripheral Neuropathy

MalaCards integrated aliases for Agenesis of the Corpus Callosum with Peripheral Neuropathy:

Name: Agenesis of the Corpus Callosum with Peripheral Neuropathy 58 12 38 13 15
Andermann Syndrome 58 12 54 26 60 76 30 56 6
Charlevoix Disease 58 12 54 26 60 76
Accpn 58 54 26 76
Polyneuropathy, Sensorimotor, with or Without Agenesis of the Corpus Callosum 58 54 76
Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum 54 26
Agenesis of Corpus Callosum with Peripheral Neuropathy 54 26
Corpus Callosum, Agenesis of, with Neuronopathy 58 76
Agenesis of Corpus Callosum with Polyneuropathy 54 26
Corpus Callosum Agenesis-Neuronopathy Syndrome 12 60
Agenesis of Corpus Callosum with Neuronopathy 54 26
Corpus Callosum Agenesis Neuronopathy 54 74
Hmsn/acc 54 26
Agenesis of the Corpus Callosum, with Peripheral Neuropathy 76
Agenesis, Corpus Callosum, with Peripheral Neuropathy 41
Andermann's Syndrome 76

Characteristics:

Orphanet epidemiological data:

60
corpus callosum agenesis-neuronopathy syndrome
Inheritance: Autosomal recessive; Age of onset: Antenatal,Neonatal;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
progressive disorder
onset within the first year of life
most individuals are wheelchair-bound or bedridden by adolescence
death in third or fourth decades, usually due to respiratory infection
increased frequency in the charlevoix and saguenat-lac-st-jean regions of quebec, canada (1 in 2,117 live births, carrier rate 1 in 23)


HPO:

33
agenesis of the corpus callosum with peripheral neuropathy:
Onset and clinical course progressive
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Agenesis of the Corpus Callosum with Peripheral Neuropathy

NIH Rare Diseases : 54 Andermann syndrome (AS) is a disorder that damages the nerves used for muscle movement and sensation (motor and sensory neuropathy). Agenesis or malformation of the corpus callosum also occurs in most people with this disorder. Signs and symptoms of the disorder include areflexia; hypotonia; amyotrophy; severe progressive weakness and loss of sensation in the limbs; and tremors. Affected individuals typically begin walking late and lose this ability by their teenage years. Other features may include intellectual disability, seizures, contractures, scoliosis, various psychiatric symptoms, various atypical physical features, and cranial nerve problems that cause facial muscle weakness, ptosis, and difficulty following movements with the eyes (gaze palsy). It is caused by mutations in the SLC12A6 gene and is inherited in an autosomal recessive manner. AS is associated with a shortened life expectancy, but affected individuals typically live into adulthood.

MalaCards based summary : Agenesis of the Corpus Callosum with Peripheral Neuropathy, also known as andermann syndrome, is related to kuzniecky andermann syndrome and white matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome, and has symptoms including seizures and tremor, limb. An important gene associated with Agenesis of the Corpus Callosum with Peripheral Neuropathy is SLC12A6 (Solute Carrier Family 12 Member 6), and among its related pathways/superpathways is Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. Affiliated tissues include brain, eye and testes, and related phenotypes are agenesis of corpus callosum and intellectual disability

Disease Ontology : 12 A neurodegenerative disease characterized by autosomal recessive inheritance with early onset of severe sensory-motor polyneuropathy, variable degree of agenesis of the corpus callosum, amyotrophy, hypotonia, and cognitive impairment that has material basis in homozygous or compound heterozygous mutation in the SLC12A6 gene on chromosome 15q14.

Genetics Home Reference : 26 Andermann syndrome is a disorder that damages the nerves used for muscle movement and sensation (motor and sensory neuropathy). Absence (agenesis) or malformation of the tissue connecting the left and right halves of the brain (corpus callosum) also occurs in most people with this disorder.

OMIM : 58 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 and Saguenay-Lac-Saint-Jean region of Quebec (Uyanik et al., 2006). Dupre et al. (2003) provided a comprehensive review of the disorder. Dobyns (1996) reviewed the many genetic causes of agenesis of the corpus callosum. (218000)

UniProtKB/Swiss-Prot : 76 Agenesis of the corpus callosum, with peripheral neuropathy: A disease that is characterized by severe progressive sensorimotor neuropathy, mental retardation, dysmorphic features and complete or partial agenesis of the corpus callosum.

Wikipedia : 77 Andermann syndrome, also known as agenesis of corpus callosum with neuronopathy (ACCPN) and Charlevoix... more...

Related Diseases for Agenesis of the Corpus Callosum with Peripheral Neuropathy

Graphical network of the top 20 diseases related to Agenesis of the Corpus Callosum with Peripheral Neuropathy:



Diseases related to Agenesis of the Corpus Callosum with Peripheral Neuropathy

Symptoms & Phenotypes for Agenesis of the Corpus Callosum with Peripheral Neuropathy

Human phenotypes related to Agenesis of the Corpus Callosum with Peripheral Neuropathy:

60 33 (show top 50) (show all 52)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 agenesis of corpus callosum 60 33 hallmark (90%) Very frequent (99-80%) HP:0001274
2 intellectual disability 60 33 hallmark (90%) Very frequent (99-80%) HP:0001249
3 seizures 60 33 hallmark (90%) Very frequent (99-80%) HP:0001250
4 eeg abnormality 60 33 hallmark (90%) Very frequent (99-80%) HP:0002353
5 global developmental delay 60 33 hallmark (90%) Very frequent (99-80%) HP:0001263
6 microcephaly 60 33 hallmark (90%) Very frequent (99-80%) HP:0000252
7 hemiplegia/hemiparesis 60 33 hallmark (90%) Very frequent (99-80%) HP:0004374
8 aqueductal stenosis 60 33 frequent (33%) Frequent (79-30%) HP:0002410
9 nystagmus 60 33 occasional (7.5%) Occasional (29-5%) HP:0000639
10 abnormality of retinal pigmentation 60 33 occasional (7.5%) Occasional (29-5%) HP:0007703
11 strabismus 60 33 occasional (7.5%) Occasional (29-5%) HP:0000486
12 myopia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000545
13 turricephaly 60 33 occasional (7.5%) Occasional (29-5%) HP:0000262
14 craniosynostosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0001363
15 hypertelorism 33 HP:0000316
16 high palate 33 HP:0000218
17 ptosis 33 HP:0000508
18 scoliosis 33 HP:0002650
19 macrotia 33 HP:0000400
20 wide nasal bridge 33 HP:0000431
21 short nose 33 HP:0003196
22 neonatal hypotonia 33 HP:0001319
23 flexion contracture 33 HP:0001371
24 brachycephaly 33 HP:0000248
25 skeletal muscle atrophy 33 HP:0003202
26 sensory neuropathy 33 HP:0000763
27 decreased motor nerve conduction velocity 33 HP:0003431
28 ventriculomegaly 33 HP:0002119
29 motor delay 33 HP:0001270
30 psychosis 33 HP:0000709
31 hypoplasia of the maxilla 33 HP:0000327
32 long face 33 HP:0000276
33 areflexia 33 HP:0001284
34 low anterior hairline 33 HP:0000294
35 facial asymmetry 33 HP:0000324
36 tapered finger 33 HP:0001182
37 facial diplegia 33 HP:0001349
38 generalized hypotonia 33 HP:0001290
39 limb muscle weakness 33 HP:0003690
40 peripheral axonal neuropathy 33 HP:0003477
41 polyneuropathy 33 HP:0001271
42 restrictive deficit on pulmonary function testing 33 HP:0002111
43 2-3 toe syndactyly 33 HP:0004691
44 increased csf protein 33 HP:0002922
45 motor polyneuropathy 33 HP:0007178
46 narrow forehead 33 HP:0000341
47 onion bulb formation 33 HP:0003383
48 decreased sensory nerve conduction velocity 33 HP:0003448
49 emg: chronic denervation signs 33 HP:0003444
50 limb tremor 33 HP:0200085

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
hypertelorism
ptosis
gaze palsies

Skeletal Spine:
scoliosis

Muscle Soft Tissue:
neonatal hypotonia
amyotrophy
progressive distal and proximal symmetric limb weakness
emg shows denervation

Head And Neck Face:
long face
facial asymmetry
facial diplegia
narrow forehead
hypoplastic maxilla

Laboratory Abnormalities:
increased csf protein

Head And Neck Ears:
large ears

Skin Nails Hair Hair:
low hairline

Skeletal Hands:
long tapered fingers

Neurologic Behavioral Psychiatric Manifestations:
hallucinatory psychosis develops during adolescence

Neurologic Central Nervous System:
seizures
developmental delay
enlarged ventricles
agenesis of the corpus callosum
delayed motor milestones
more
Head And Neck Nose:
short nose
broad nasal root

Head And Neck Head:
brachycephaly

Neurologic Peripheral Nervous System:
areflexia
limb tremor
peripheral motor neuropathy, severe
peripheral sensory neuropathy, severe
sural nerve biopsy shows absence of large myelinated fibers
more
Head And Neck Mouth:
high-arched palate
protruding, fissured tongue

Skeletal:
joint contractures

Respiratory:
restrictive respiratory disease

Skeletal Feet:
syndactyly of the second and third toes
overriding of the first toe

Clinical features from OMIM:

218000

UMLS symptoms related to Agenesis of the Corpus Callosum with Peripheral Neuropathy:


seizures, tremor, limb

GenomeRNAi Phenotypes related to Agenesis of the Corpus Callosum with Peripheral Neuropathy according to GeneCards Suite gene sharing:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-171 9.65 SACS SLC12A6
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-173 9.65 SLC12A6
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-180 9.65 SLC12A6
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-20 9.65 SACS
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-200 9.65 SLC12A6
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-211 9.65 SACS
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-33 9.65 SLC12A6
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-34 9.65 SLC12A6
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-95 9.65 SLC12A6
10 Resistant to vaccinia virus (VACV-A4L) infection GR00351-A-1 8.92 CLCN2 SLC12A4 SLC12A5 SLC12A6

MGI Mouse Phenotypes related to Agenesis of the Corpus Callosum with Peripheral Neuropathy:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 9.13 SLC12A5 SLC12A6 SLC12A7
2 vision/eye MP:0005391 8.92 CLCN2 SLC12A5 SLC12A6 SLC12A7

Drugs & Therapeutics for Agenesis of the Corpus Callosum with Peripheral Neuropathy

Search Clinical Trials , NIH Clinical Center for Agenesis of the Corpus Callosum with Peripheral Neuropathy

Genetic Tests for Agenesis of the Corpus Callosum with Peripheral Neuropathy

Genetic tests related to Agenesis of the Corpus Callosum with Peripheral Neuropathy:

# Genetic test Affiliating Genes
1 Andermann Syndrome 30 SLC12A6

Anatomical Context for Agenesis of the Corpus Callosum with Peripheral Neuropathy

MalaCards organs/tissues related to Agenesis of the Corpus Callosum with Peripheral Neuropathy:

42
Brain, Eye, Testes, Tongue, Skeletal Muscle

Publications for Agenesis of the Corpus Callosum with Peripheral Neuropathy

Articles related to Agenesis of the Corpus Callosum with Peripheral Neuropathy:

(show all 14)
# Title Authors Year
1
First case of Roma ethnic origin with Andermann syndrome: A novel frameshift mutation in exon 20 of SLC12A6 gene. ( 30868738 )
2019
2
A new splice-site mutation in SLC12A6 causing Andermann syndrome with motor neuronopathy. ( 29269506 )
2018
3
KCC3 loss-of-function contributes to Andermann syndrome by inducing activity-dependent neuromuscular junction defects. ( 28647557 )
2017
4
A new patient with Andermann syndrome: an underdiagnosed clinical genetics entity? ( 24341143 )
2013
5
Expanding the differential diagnosis of inherited neuropathies with non-uniform conduction: Andermann syndrome. ( 22462673 )
2012
6
Andermann syndrome can be a phenocopy of hereditary motor and sensory neuropathy--report of a discordant sibship with a compound heterozygous mutation of the KCC3 gene. ( 20020398 )
2009
7
Novel truncating and missense mutations of the KCC3 gene associated with Andermann syndrome. ( 16606917 )
2006
8
Andermann syndrome in a Turkish patient. ( 12661946 )
2003
9
Do we consider Andermann syndrome in infants with agenesis of corpus callosum. ( 12872822 )
2003
10
Familial progressive sensorimotor neuropathy with agenesis of the corpus callosum (Andermann syndrome): a clinical, neuroradiological and histopathological study. ( 9058066 )
1997
11
Occurrence of Andermann syndrome out of French Canada--agenesis of the corpus callosum with neuronopathy. ( 8232787 )
1993
12
Occurrence of Andermann syndrome out of French Canada--agenesis of the corpus callosum with neuronopathy. ( 8292134 )
1993
13
Corpus callosum agenesis and psychosis in Andermann syndrome. ( 1668979 )
1991
14
The Andermann syndrome: agenesis of the corpus callosum associated with mental retardation and progressive sensorimotor neuronopathy. ( 6329500 )
1984

Variations for Agenesis of the Corpus Callosum with Peripheral Neuropathy

ClinVar genetic disease variations for Agenesis of the Corpus Callosum with Peripheral Neuropathy:

6 (show top 50) (show all 312)
# Gene Variation Type Significance SNP ID Assembly Location
1 SLC12A6 NM_133647.1(SLC12A6): c.3003C> T (p.Leu1001=) single nucleotide variant Benign rs4577050 GRCh37 Chromosome 15, 34528948: 34528948
2 SLC12A6 NM_133647.1(SLC12A6): c.3003C> T (p.Leu1001=) single nucleotide variant Benign rs4577050 GRCh38 Chromosome 15, 34236747: 34236747
3 SLC12A6 NM_133647.1(SLC12A6): c.2934+12G> C single nucleotide variant Benign/Likely benign rs11854257 GRCh37 Chromosome 15, 34529608: 34529608
4 SLC12A6 NM_133647.1(SLC12A6): c.2934+12G> C single nucleotide variant Benign/Likely benign rs11854257 GRCh38 Chromosome 15, 34237407: 34237407
5 SLC12A6 NM_133647.1(SLC12A6): c.1825-13C> T single nucleotide variant Benign/Likely benign rs74010036 GRCh37 Chromosome 15, 34537617: 34537617
6 SLC12A6 NM_133647.1(SLC12A6): c.1825-13C> T single nucleotide variant Benign/Likely benign rs74010036 GRCh38 Chromosome 15, 34245416: 34245416
7 SLC12A6 NM_133647.1(SLC12A6): c.1284C> T (p.Asn428=) single nucleotide variant Conflicting interpretations of pathogenicity rs34098566 GRCh37 Chromosome 15, 34544420: 34544420
8 SLC12A6 NM_133647.1(SLC12A6): c.1284C> T (p.Asn428=) single nucleotide variant Conflicting interpretations of pathogenicity rs34098566 GRCh38 Chromosome 15, 34252219: 34252219
9 SLC12A6 NM_133647.1(SLC12A6): c.1005C> T (p.Ile335=) single nucleotide variant Uncertain significance rs35855196 GRCh37 Chromosome 15, 34546662: 34546662
10 SLC12A6 NM_133647.1(SLC12A6): c.1005C> T (p.Ile335=) single nucleotide variant Uncertain significance rs35855196 GRCh38 Chromosome 15, 34254461: 34254461
11 SLC12A6 NM_133647.1(SLC12A6): c.940A> T (p.Met314Leu) single nucleotide variant Uncertain significance rs34491959 GRCh37 Chromosome 15, 34546727: 34546727
12 SLC12A6 NM_133647.1(SLC12A6): c.940A> T (p.Met314Leu) single nucleotide variant Uncertain significance rs34491959 GRCh38 Chromosome 15, 34254526: 34254526
13 SLC12A6 NM_133647.1(SLC12A6): c.475C> T (p.Leu159=) single nucleotide variant Benign rs7164902 GRCh37 Chromosome 15, 34551082: 34551082
14 SLC12A6 NM_133647.1(SLC12A6): c.475C> T (p.Leu159=) single nucleotide variant Benign rs7164902 GRCh38 Chromosome 15, 34258881: 34258881
15 SLC12A6 NM_133647.1(SLC12A6): c.379G> T (p.Glu127Ter) single nucleotide variant Pathogenic rs199747285 GRCh37 Chromosome 15, 34553159: 34553159
16 SLC12A6 NM_133647.1(SLC12A6): c.379G> T (p.Glu127Ter) single nucleotide variant Pathogenic rs199747285 GRCh38 Chromosome 15, 34260958: 34260958
17 SLC12A6 NM_133647.1(SLC12A6): c.571_572dupGT (p.Tyr192Serfs) duplication Likely pathogenic rs775111365 GRCh38 Chromosome 15, 34257760: 34257761
18 SLC12A6 NM_133647.1(SLC12A6): c.571_572dupGT (p.Tyr192Serfs) duplication Likely pathogenic rs775111365 GRCh37 Chromosome 15, 34549961: 34549962
19 SLC12A6 NM_133647.1(SLC12A6): c.3042+8A> G single nucleotide variant Conflicting interpretations of pathogenicity rs186141509 GRCh37 Chromosome 15, 34528901: 34528901
20 SLC12A6 NM_133647.1(SLC12A6): c.3042+8A> G single nucleotide variant Conflicting interpretations of pathogenicity rs186141509 GRCh38 Chromosome 15, 34236700: 34236700
21 SLC12A6 NM_133647.1(SLC12A6): c.3031C> T (p.Arg1011Ter) single nucleotide variant Pathogenic rs121908427 GRCh37 Chromosome 15, 34528920: 34528920
22 SLC12A6 NM_133647.1(SLC12A6): c.3031C> T (p.Arg1011Ter) single nucleotide variant Pathogenic rs121908427 GRCh38 Chromosome 15, 34236719: 34236719
23 SLC12A6 NM_133647.1(SLC12A6): c.2023C> T (p.Arg675Ter) single nucleotide variant Pathogenic rs121908428 GRCh37 Chromosome 15, 34536194: 34536194
24 SLC12A6 NM_133647.1(SLC12A6): c.2023C> T (p.Arg675Ter) single nucleotide variant Pathogenic rs121908428 GRCh38 Chromosome 15, 34243993: 34243993
25 SLC12A6 NM_005135.2(SLC12A6): c.748delA (p.Ile250Serfs) deletion Pathogenic rs606231157 GRCh38 Chromosome 15, 34254565: 34254565
26 SLC12A6 NM_005135.2(SLC12A6): c.748delA (p.Ile250Serfs) deletion Pathogenic rs606231157 GRCh37 Chromosome 15, 34546766: 34546766
27 SLC12A6 NM_005135.2(SLC12A6): c.466C> T (p.Arg156Cys) single nucleotide variant Pathogenic rs121908429 GRCh37 Chromosome 15, 34549914: 34549914
28 SLC12A6 NM_005135.2(SLC12A6): c.466C> T (p.Arg156Cys) single nucleotide variant Pathogenic rs121908429 GRCh38 Chromosome 15, 34257713: 34257713
29 SLC12A6 NM_005135.2(SLC12A6): c.2841_2850delCCAGATGCTC (p.Gln948Glyfs) deletion Pathogenic rs606231158 GRCh38 Chromosome 15, 34236747: 34236756
30 SLC12A6 NM_005135.2(SLC12A6): c.2841_2850delCCAGATGCTC (p.Gln948Glyfs) deletion Pathogenic rs606231158 GRCh37 Chromosome 15, 34528948: 34528957
31 SLC12A6 NM_133647.1(SLC12A6): c.3400C> T (p.Arg1134Ter) single nucleotide variant Likely pathogenic rs606231229 GRCh38 Chromosome 15, 34233934: 34233934
32 SLC12A6 NM_133647.1(SLC12A6): c.3400C> T (p.Arg1134Ter) single nucleotide variant Likely pathogenic rs606231229 GRCh37 Chromosome 15, 34526135: 34526135
33 SLC12A6 NM_133647.1(SLC12A6): c.2032dup (p.Tyr678Leufs) duplication Pathogenic rs515726217 GRCh37 Chromosome 15, 34536185: 34536185
34 SLC12A6 NM_133647.1(SLC12A6): c.1478_1485delTTCCCTCT (p.Phe493Cysfs) deletion Pathogenic rs515726218 GRCh38 Chromosome 15, 34250906: 34250913
35 SLC12A6 NM_133647.1(SLC12A6): c.1584_1585delCTinsG (p.Phe529Leufs) indel Pathogenic rs515726216 GRCh37 Chromosome 15, 34542838: 34542839
36 SLC12A6 NM_133647.1(SLC12A6): c.2032dup (p.Tyr678Leufs) duplication Pathogenic rs515726217 GRCh38 Chromosome 15, 34243984: 34243984
37 SLC12A6 NM_133647.1(SLC12A6): c.1478_1485delTTCCCTCT (p.Phe493Cysfs) deletion Pathogenic rs515726218 GRCh37 Chromosome 15, 34543107: 34543114
38 SLC12A6 NM_133647.1(SLC12A6): c.1584_1585delCTinsG (p.Phe529Leufs) indel Pathogenic rs515726216 GRCh38 Chromosome 15, 34250637: 34250638
39 SLC12A6 NM_133647.1(SLC12A6): c.963C> T (p.Tyr321=) single nucleotide variant Benign/Likely benign rs35583475 GRCh38 Chromosome 15, 34254503: 34254503
40 SLC12A6 NM_133647.1(SLC12A6): c.963C> T (p.Tyr321=) single nucleotide variant Benign/Likely benign rs35583475 GRCh37 Chromosome 15, 34546704: 34546704
41 SLC12A6 NM_133647.1(SLC12A6): c.1236G> A (p.Ser412=) single nucleotide variant Benign/Likely benign rs2290940 GRCh38 Chromosome 15, 34252267: 34252267
42 SLC12A6 NM_133647.1(SLC12A6): c.1236G> A (p.Ser412=) single nucleotide variant Benign/Likely benign rs2290940 GRCh37 Chromosome 15, 34544468: 34544468
43 SLC12A6 NM_133647.1(SLC12A6): c.1551G> C (p.Pro517=) single nucleotide variant Benign/Likely benign rs17236798 GRCh38 Chromosome 15, 34250671: 34250671
44 SLC12A6 NM_133647.1(SLC12A6): c.1551G> C (p.Pro517=) single nucleotide variant Benign/Likely benign rs17236798 GRCh37 Chromosome 15, 34542872: 34542872
45 SLC12A6 NM_133647.1(SLC12A6): c.1412G> C (p.Ser471Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs140916001 GRCh37 Chromosome 15, 34543180: 34543180
46 SLC12A6 NM_133647.1(SLC12A6): c.1412G> C (p.Ser471Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs140916001 GRCh38 Chromosome 15, 34250979: 34250979
47 SLC12A6 NM_133647.1(SLC12A6): c.*3525C> T single nucleotide variant Likely benign rs1133154 GRCh37 Chromosome 15, 34522557: 34522557
48 SLC12A6 NM_133647.1(SLC12A6): c.*3525C> T single nucleotide variant Likely benign rs1133154 GRCh38 Chromosome 15, 34230356: 34230356
49 SLC12A6 NM_133647.1(SLC12A6): c.*3520C> G single nucleotide variant Uncertain significance rs886051036 GRCh37 Chromosome 15, 34522562: 34522562
50 SLC12A6 NM_133647.1(SLC12A6): c.*3520C> G single nucleotide variant Uncertain significance rs886051036 GRCh38 Chromosome 15, 34230361: 34230361

Expression for Agenesis of the Corpus Callosum with Peripheral Neuropathy

Search GEO for disease gene expression data for Agenesis of the Corpus Callosum with Peripheral Neuropathy.

Pathways for Agenesis of the Corpus Callosum with Peripheral Neuropathy

GO Terms for Agenesis of the Corpus Callosum with Peripheral Neuropathy

Cellular components related to Agenesis of the Corpus Callosum with Peripheral Neuropathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 integral component of plasma membrane GO:0005887 9.02 CLCN2 SLC12A4 SLC12A5 SLC12A6 SLC12A7

Biological processes related to Agenesis of the Corpus Callosum with Peripheral Neuropathy according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.85 CLCN2 SLC12A4 SLC12A5 SLC12A6 SLC12A7
2 transmembrane transport GO:0055085 9.83 CLCN2 SLC12A4 SLC12A5 SLC12A6 SLC12A7
3 chemical synaptic transmission GO:0007268 9.78 SLC12A4 SLC12A5 SLC12A6 SLC12A7
4 potassium ion transport GO:0006813 9.71 SLC12A4 SLC12A5 SLC12A6 SLC12A7
5 potassium ion transmembrane transport GO:0071805 9.67 SLC12A4 SLC12A5 SLC12A6 SLC12A7
6 potassium ion import across plasma membrane GO:1990573 9.62 SLC12A4 SLC12A5 SLC12A6 SLC12A7
7 cell volume homeostasis GO:0006884 9.56 SLC12A4 SLC12A5 SLC12A6 SLC12A7
8 chloride transmembrane transport GO:1902476 9.55 CLCN2 SLC12A4 SLC12A5 SLC12A6 SLC12A7
9 chloride transport GO:0006821 9.51 CLCN2 SLC12A5
10 cellular hypotonic salinity response GO:0071477 9.49 SLC12A4 SLC12A6
11 potassium ion homeostasis GO:0055075 9.26 SLC12A4 SLC12A5 SLC12A6 SLC12A7
12 chloride ion homeostasis GO:0055064 8.92 SLC12A4 SLC12A5 SLC12A6 SLC12A7

Molecular functions related to Agenesis of the Corpus Callosum with Peripheral Neuropathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 symporter activity GO:0015293 9.46 SLC12A4 SLC12A5 SLC12A6 SLC12A7
2 potassium:chloride symporter activity GO:0015379 9.26 SLC12A4 SLC12A5 SLC12A6 SLC12A7
3 cation:chloride symporter activity GO:0015377 8.92 SLC12A4 SLC12A5 SLC12A6 SLC12A7

Sources for Agenesis of the Corpus Callosum with Peripheral Neuropathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
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31 HGMD
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35 ICD10 via Orphanet
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45 MeSH
46 MESH via Orphanet
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50 NCI
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55 NINDS
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58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
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73 Tocris
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75 UMLS via Orphanet
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