ACCPN
MCID: AGN003
MIFTS: 50

Agenesis of the Corpus Callosum with Peripheral Neuropathy (ACCPN)

Categories: Fetal diseases, Genetic diseases, Neuronal diseases, Rare 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 57 12 36 29 13 6 15
Andermann Syndrome 57 12 20 43 58 72 54
Charlevoix Disease 57 12 20 43 58 72
Accpn 57 20 43 72
Polyneuropathy, Sensorimotor, with or Without Agenesis of the Corpus Callosum 57 20 72
Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum 20 43
Agenesis of Corpus Callosum with Peripheral Neuropathy 20 43
Corpus Callosum, Agenesis of, with Neuronopathy 57 72
Agenesis of Corpus Callosum with Polyneuropathy 20 43
Corpus Callosum Agenesis-Neuronopathy Syndrome 12 58
Agenesis of Corpus Callosum with Neuronopathy 20 43
Corpus Callosum Agenesis Neuronopathy 20 70
Hmsn/acc 20 43
Agenesis of the Corpus Callosum, with Peripheral Neuropathy 72
Agenesis, Corpus Callosum, with Peripheral Neuropathy 39
Andermann's Syndrome 72

Characteristics:

Orphanet epidemiological data:

58
corpus callosum agenesis-neuronopathy syndrome
Inheritance: Autosomal recessive; Age of onset: Antenatal,Neonatal;

OMIM®:

57 (Updated 20-May-2021)
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:

31
agenesis of the corpus callosum with peripheral neuropathy:
Inheritance autosomal recessive inheritance
Onset and clinical course progressive


Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


Summaries for Agenesis of the Corpus Callosum with Peripheral Neuropathy

MedlinePlus Genetics : 43 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.People affected by Andermann syndrome have abnormal or absent reflexes (areflexia) and weak muscle tone (hypotonia). They experience muscle wasting (amyotrophy), severe progressive weakness and loss of sensation in the limbs, and rhythmic shaking (tremors). They typically begin walking between ages 3 and 4 and lose this ability by their teenage years. As they get older, people with this disorder frequently develop joint deformities called contractures, which restrict the movement of certain joints. Most affected individuals also develop abnormal curvature of the spine (scoliosis), which may require surgery.Andermann syndrome also results in abnormal function of certain cranial nerves, which emerge directly from the brain and extend to various areas of the head and neck. Cranial nerve problems may result in facial muscle weakness, drooping eyelids (ptosis), and difficulty following movements with the eyes (gaze palsy).Individuals with Andermann syndrome usually have intellectual disability, which may be mild to severe, and some experience seizures. They may also develop psychiatric symptoms such as depression, anxiety, agitation, paranoia, and hallucinations, which usually appear in adolescence.Some people with Andermann syndrome have atypical physical features such as widely spaced eyes (ocular hypertelorism); a wide, short skull (brachycephaly); a high arch of the hard palate at the roof of the mouth; a big toe that crosses over the other toes; and partial fusion (syndactyly) of the second and third toes.Andermann syndrome 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 corpus callosum, agenesis of, 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 are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Diuretics Pathway, Pharmacodynamics. Affiliated tissues include skeletal muscle, tongue and brain, and related phenotypes are intellectual disability and agenesis of corpus callosum

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.

GARD : 20 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.

OMIM® : 57 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) (Updated 20-May-2021)

KEGG : 36 Agenesis of the corpus callosum with peripheral neuropathy (ACCPN) is a severe neurodegenerative disorder that is transmitted as an autosomal recessive trait. It is associated with mental retardation, progressive peripheral neuropathy caused by axonal degeneration, and complete or partial agenesis of the corpus callosum. ACCPN is found in French Canadian population and could be resulted from a single founder mutation.

UniProtKB/Swiss-Prot : 72 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 : 73 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

Diseases related to Agenesis of the Corpus Callosum with Peripheral Neuropathy via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 38)
# Related Disease Score Top Affiliating Genes
1 kuzniecky andermann syndrome 11.1
2 corpus callosum, agenesis of 11.1
3 white matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome 11.0
4 hereditary motor and sensory neuropathy with agenesis of the corpus callosum 11.0
5 neuropathy 10.4
6 peripheral nervous system disease 10.3
7 autosomal recessive disease 10.3
8 corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia 10.2
9 sensory peripheral neuropathy 10.2
10 scoliosis 10.2
11 hypotonia 10.2
12 dyskeratosis congenita, autosomal recessive 1 10.1 SLC12A6 NOP10
13 corpus callosum, partial agenesis of, x-linked 10.1
14 polyneuropathy 10.1
15 muscular atrophy 10.1
16 dyskeratosis congenita autosomal recessive 10.1 SLC12A6 NOP10
17 ataxia and polyneuropathy, adult-onset 9.9
18 alacrima, achalasia, and mental retardation syndrome 9.9
19 charcot-marie-tooth disease 9.9
20 microcephaly 9.9
21 neurogenic bladder 9.9
22 spinal muscular atrophy 9.9
23 anterior horn cell disease 9.9
24 axonal neuropathy 9.9
25 demyelinating hereditary motor and sensory neuropathy 9.9
26 hypothalamic hamartomas 9.9 SLC12A5 SLC12A2
27 developmental and epileptic encephalopathy 34 9.7 STK39 SLC12A5 SLC12A2
28 seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance 9.7 STK39 SLC12A1
29 epilepsy, idiopathic generalized 14 9.7 STK39 SLC12A5 SLC12A2
30 hypomagnesemia 4, renal 9.6 WNK3 SLC12A7 SLC12A4
31 neuropathy, hereditary sensory and autonomic, type iia 9.5 STK39 SLC12A6 SLC12A5 SLC12A2
32 arthrogryposis, distal, type 3 9.4 WNK3 STK39 SLC12A1
33 liddle syndrome 1 9.4 WNK3 STK39 SLC12A1
34 pseudohypoaldosteronism 9.4 WNK3 STK39 SLC12A1
35 renal tubular transport disease 9.2 WNK3 STK39 SLC12A2 SLC12A1
36 gitelman syndrome 9.2 WNK3 STK39 SLC12A2 SLC12A1
37 distal arthrogryposis 9.1 WNK3 STK39 SLC12A1
38 bartter disease 8.4 WNK3 STK39 SLC12A7 SLC12A6 SLC12A5 SLC12A4

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:

58 31 (show top 50) (show all 53)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
2 agenesis of corpus callosum 58 31 hallmark (90%) Very frequent (99-80%) HP:0001274
3 eeg abnormality 58 31 hallmark (90%) Very frequent (99-80%) HP:0002353
4 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
5 microcephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000252
6 hemiplegia/hemiparesis 58 31 hallmark (90%) Very frequent (99-80%) HP:0004374
7 seizure 31 hallmark (90%) HP:0001250
8 aqueductal stenosis 58 31 frequent (33%) Frequent (79-30%) HP:0002410
9 nystagmus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000639
10 abnormality of retinal pigmentation 58 31 occasional (7.5%) Occasional (29-5%) HP:0007703
11 strabismus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000486
12 myopia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000545
13 turricephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000262
14 craniosynostosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001363
15 seizures 58 Very frequent (99-80%)
16 scoliosis 31 HP:0002650
17 ptosis 31 HP:0000508
18 high palate 31 HP:0000218
19 hypertelorism 31 HP:0000316
20 macrotia 31 HP:0000400
21 wide nasal bridge 31 HP:0000431
22 short nose 31 HP:0003196
23 neonatal hypotonia 31 HP:0001319
24 flexion contracture 31 HP:0001371
25 brachycephaly 31 HP:0000248
26 skeletal muscle atrophy 31 HP:0003202
27 motor delay 31 HP:0001270
28 hypoplasia of the maxilla 31 HP:0000327
29 facial asymmetry 31 HP:0000324
30 long face 31 HP:0000276
31 areflexia 31 HP:0001284
32 ventriculomegaly 31 HP:0002119
33 low anterior hairline 31 HP:0000294
34 sensory neuropathy 31 HP:0000763
35 psychosis 31 HP:0000709
36 decreased motor nerve conduction velocity 31 HP:0003431
37 tapered finger 31 HP:0001182
38 limb muscle weakness 31 HP:0003690
39 polyneuropathy 31 HP:0001271
40 respiratory tract infection 31 HP:0011947
41 generalized hypotonia 31 HP:0001290
42 restrictive ventilatory defect 31 HP:0002091
43 2-3 toe syndactyly 31 HP:0004691
44 peripheral axonal neuropathy 31 HP:0003477
45 narrow forehead 31 HP:0000341
46 motor polyneuropathy 31 HP:0007178
47 emg: chronic denervation signs 31 HP:0003444
48 increased csf protein 31 HP:0002922
49 facial diplegia 31 HP:0001349
50 decreased sensory nerve conduction velocity 31 HP:0003448

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
seizures
developmental delay
enlarged ventricles
agenesis of the corpus callosum
delayed motor milestones
more
Head And Neck Eyes:
ptosis
hypertelorism
gaze palsies

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

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

Skeletal Spine:
scoliosis

Head And Neck Nose:
short nose
broad nasal root

Head And Neck Head:
brachycephaly

Neurologic Peripheral Nervous System:
areflexia
limb tremor
axonal degeneration/regeneration
peripheral motor neuropathy, severe
peripheral sensory neuropathy, severe
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 (Updated 20-May-2021)

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


seizures; tremor, limb

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.56 CLN6 SLC12A1 SLC12A2 SLC12A4 SLC12A5 SLC12A6
2 hearing/vestibular/ear MP:0005377 9.02 ATP2B2 SLC12A2 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 Agenesis of the Corpus Callosum with Peripheral Neuropathy 29 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:

40
Skeletal Muscle, Tongue, Brain

Publications for Agenesis of the Corpus Callosum with Peripheral Neuropathy

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

(show all 43)
# Title Authors PMID Year
1
Novel truncating and missense mutations of the KCC3 gene associated with Andermann syndrome. 6 57 54 61
16606917 2006
2
The K-Cl cotransporter KCC3 is mutant in a severe peripheral neuropathy associated with agenesis of the corpus callosum. 54 6 57
12368912 2002
3
Distal truncation of KCC3 in non-French Canadian HMSN/ACC families. 6 57
17893295 2007
4
Hereditary motor and sensory neuropathy with agenesis of the corpus callosum. 6 57
12838516 2003
5
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. 6 54 61
20020398 2009
6
A new patient with Andermann syndrome: an underdiagnosed clinical genetics entity? 6 61
24341143 2013
7
Expanding the differential diagnosis of inherited neuropathies with non-uniform conduction: Andermann syndrome. 6 61
22462673 2012
8
Occurrence of Andermann syndrome out of French Canada--agenesis of the corpus callosum with neuronopathy. 61 57
8292134 1993
9
The Andermann syndrome: agenesis of the corpus callosum associated with mental retardation and progressive sensorimotor neuronopathy. 61 57
6329500 1984
10
Identification of a novel SLC12A6 pathogenic variant associated with hereditary motor and sensory neuropathy with agenesis of the corpus callosum (HMSN/ACC) in a non-French-Canadian family. 6
30038111 2018
11
Modeled Fetal Risk of Genetic Diseases Identified by Expanded Carrier Screening. 6
27533158 2016
12
Application of targeted multi-gene panel testing for the diagnosis of inherited peripheral neuropathy provides a high diagnostic yield with unexpected phenotype-genotype variability. 6
26392352 2015
13
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 6
25525159 2015
14
Physiology of SLC12 transporters: lessons from inherited human genetic mutations and genetically engineered mouse knockouts. 6
23325410 2013
15
Transit defect of potassium-chloride Co-transporter 3 is a major pathogenic mechanism in hereditary motor and sensory neuropathy with agenesis of the corpus callosum. 6
21628467 2011
16
HMSN/ACC truncation mutations disrupt brain-type creatine kinase-dependant activation of K+/Cl- co-transporter 3. 6
18566107 2008
17
Fine mapping the candidate region for peripheral neuropathy with or without agenesis of the corpus callosum in the French Canadian population. 57
12107814 2002
18
Absence makes the search grow longer. 57
8554070 1996
19
The gene responsible for a severe form of peripheral neuropathy and agenesis of the corpus callosum maps to chromosome 15q. 57
8554065 1996
20
Genetic epidemiology of sensorimotor polyneuropathy with or without agenesis of the corpus callosum in northeastern Quebec. 57
8386695 1993
21
Agenesis of the corpus callosum, infantile spasms, spastic quadriplegia, microcephaly and severe mental retardation in three siblings. 57
589850 1977
22
Agenesis of the corpus callosum in two sisters. 57
4204338 1973
23
[Malignant familial early infantile convulsive disoders, partial relation with aplasia of corpus callosum]. 57
13548803 1958
24
Agenesis of the corpus callosum; a report of two cases in siblings. 57
14397896 1955
25
Functional analysis of a potassium-chloride co-transporter 3 (SLC12A6) promoter polymorphism leading to an additional DNA methylation site. 61 54
18536702 2009
26
A Novel Splice-Site Variant in SLC12A6 Causes Andermann Syndrome without Agenesis of the Corpus Callosum. 61
32765936 2020
27
Report of Two Siblings with Andermann Syndrome. 61
32052274 2020
28
Truncating SLC12A6 variants cause different clinical phenotypes in humans and dogs. 61
31160700 2019
29
First case of Roma ethnic origin with Andermann syndrome: A novel frameshift mutation in exon 20 of SLC12A6 gene. 61
30868738 2019
30
A new splice-site mutation in SLC12A6 causing Andermann syndrome with motor neuronopathy. 61
29269506 2018
31
Experience of carrier couples identified through a population-based carrier screening pilot program for four founder autosomal recessive diseases in Saguenay-Lac-Saint-Jean. 61
28419508 2018
32
Molecular insights into the normal operation, regulation, and multisystemic roles of K+-Cl- cotransporter 3 (KCC3). 61
28814402 2017
33
KCC3 loss-of-function contributes to Andermann syndrome by inducing activity-dependent neuromuscular junction defects. 61
28647557 2017
34
Mutations affecting GABAergic signaling in seizures and epilepsy. 61
20352446 2010
35
Neurogenic mechanisms contribute to hypertension in mice with disruption of the K-Cl cotransporter KCC3. 61
16424367 2006
36
Do we consider Andermann syndrome in infants with agenesis of corpus callosum. 61
12872822 2003
37
Andermann syndrome in a Turkish patient. 61
12661946 2003
38
[Andermann syndrome in an Algerian family: suggestion of phenotype and genetic homogeneity]. 61
11885521 2001
39
[Andermann syndrome: presentation of a case]. 61
9280642 1997
40
Familial progressive sensorimotor neuropathy with agenesis of the corpus callosum (Andermann syndrome): a clinical, neuroradiological and histopathological study. 61
9058066 1997
41
Prognostic indicators in the prenatal diagnosis of agenesis of corpus callosum. 61
8141196 1994
42
Occurrence of Andermann syndrome out of French Canada--agenesis of the corpus callosum with neuronopathy. 61
8232787 1993
43
Corpus callosum agenesis and psychosis in Andermann syndrome. 61
1668979 1991

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 277)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SLC12A6 NM_001365088.1(SLC12A6):c.901del (p.Ile301fs) Deletion Pathogenic 5330 rs606231157 GRCh37: 15:34546766-34546766
GRCh38: 15:34254565-34254565
2 SLC12A6 NM_001365088.1(SLC12A6):c.619C>T (p.Arg207Cys) SNV Pathogenic 5331 rs121908429 GRCh37: 15:34549914-34549914
GRCh38: 15:34257713-34257713
3 SLC12A6 NM_001365088.1(SLC12A6):c.379G>T (p.Glu127Ter) SNV Pathogenic 159897 rs199747285 GRCh37: 15:34553159-34553159
GRCh38: 15:34260958-34260958
4 SLC12A6 NM_001365088.1(SLC12A6):c.2032dup (p.Tyr678fs) Duplication Pathogenic 136176 rs515726217 GRCh37: 15:34536184-34536185
GRCh38: 15:34243983-34243984
5 SLC12A6 NM_001365088.1(SLC12A6):c.250dup (p.His84fs) Duplication Pathogenic 374347 rs1057518713 GRCh37: 15:34628631-34628632
GRCh38: 15:34336430-34336431
6 SLC12A6 NM_001365088.1(SLC12A6):c.2436+1del Deletion Pathogenic 436730 rs515726215 GRCh37: 15:34532861-34532861
GRCh38: 15:34240660-34240660
7 SLC12A6 NM_001365088.1(SLC12A6):c.745+1G>T SNV Pathogenic 813435 rs1595442984 GRCh37: 15:34548429-34548429
GRCh38: 15:34256228-34256228
8 SLC12A6 NM_001365088.1(SLC12A6):c.3031C>T (p.Arg1011Ter) SNV Pathogenic 5326 rs121908427 GRCh37: 15:34528920-34528920
GRCh38: 15:34236719-34236719
9 SLC12A6 NM_001365088.1(SLC12A6):c.2023C>T (p.Arg675Ter) SNV Pathogenic 5327 rs121908428 GRCh37: 15:34536194-34536194
GRCh38: 15:34243993-34243993
10 SLC12A6 NM_001365088.1(SLC12A6):c.2995_3004del (p.Gln999fs) Deletion Pathogenic 5332 rs606231158 GRCh37: 15:34528947-34528956
GRCh38: 15:34236746-34236755
11 SLC12A6 NM_001365088.1(SLC12A6):c.2230C>T (p.Arg744Ter) SNV Pathogenic 1029940 GRCh37: 15:34533471-34533471
GRCh38: 15:34241270-34241270
12 SLC12A6 NM_001365088.1(SLC12A6):c.1151C>G (p.Ser384Ter) SNV Pathogenic 1029941 GRCh37: 15:34544553-34544553
GRCh38: 15:34252352-34252352
13 SLC12A6 NM_001365088.1(SLC12A6):c.1478_1485del (p.Phe493fs) Deletion Pathogenic 136177 rs515726218 GRCh37: 15:34543107-34543114
GRCh38: 15:34250906-34250913
14 SLC12A6 NM_001365088.1(SLC12A6):c.1584_1585delinsG (p.Phe529fs) Indel Pathogenic 136175 rs515726216 GRCh37: 15:34542838-34542839
GRCh38: 15:34250637-34250638
15 SLC12A6 NM_001365088.1(SLC12A6):c.316+1G>A SNV Likely pathogenic 941545 GRCh37: 15:34567545-34567545
GRCh38: 15:34275344-34275344
16 SLC12A6 NM_001365088.1(SLC12A6):c.2162+1G>A SNV Likely pathogenic 555764 rs1555377971 GRCh37: 15:34534302-34534302
GRCh38: 15:34242101-34242101
17 SLC12A6 NM_001365088.1(SLC12A6):c.2043-2A>G SNV Likely pathogenic 556551 rs1372841592 GRCh37: 15:34534424-34534424
GRCh38: 15:34242223-34242223
18 SLC12A6 NM_001365088.1(SLC12A6):c.3361+2T>G SNV Likely pathogenic 557820 rs1555376682 GRCh37: 15:34527380-34527380
GRCh38: 15:34235179-34235179
19 SLC12A6 NM_001365088.1(SLC12A6):c.3346G>T (p.Glu1116Ter) SNV Likely pathogenic 558454 rs1555376688 GRCh37: 15:34527397-34527397
GRCh38: 15:34235196-34235196
20 SLC12A6 NM_001365088.1(SLC12A6):c.2633-1G>A SNV Likely pathogenic 550765 rs1555377252 GRCh37: 15:34530603-34530603
GRCh38: 15:34238402-34238402
21 SLC12A6 NM_001365088.1(SLC12A6):c.745+2T>A SNV Likely pathogenic 551233 rs1555380998 GRCh37: 15:34548428-34548428
GRCh38: 15:34256227-34256227
22 SLC12A6 NM_001365088.1(SLC12A6):c.543+2T>G SNV Likely pathogenic 551801 rs1555381538 GRCh37: 15:34551012-34551012
GRCh38: 15:34258811-34258811
23 SLC12A6 NM_001365088.1(SLC12A6):c.3216dup (p.Asn1073Ter) Duplication Likely pathogenic 552262 rs1555376818 GRCh37: 15:34528226-34528227
GRCh38: 15:34236025-34236026
24 SLC12A6 NM_001365088.1(SLC12A6):c.281_294del (p.Gln94fs) Deletion Likely pathogenic 552537 rs1555384171 GRCh37: 15:34567568-34567581
GRCh38: 15:34275367-34275380
25 SLC12A6 NM_001365088.1(SLC12A6):c.1650-1G>C SNV Likely pathogenic 554536 rs1555378707 GRCh37: 15:34538069-34538069
GRCh38: 15:34245868-34245868
26 SLC12A6 NM_001365088.1(SLC12A6):c.3337C>T (p.Arg1113Ter) SNV Likely pathogenic 554561 rs768514327 GRCh37: 15:34527406-34527406
GRCh38: 15:34235205-34235205
27 SLC12A6 NM_001365088.1(SLC12A6):c.298del (p.Glu100fs) Deletion Likely pathogenic 555263 rs1555384169 GRCh37: 15:34567564-34567564
GRCh38: 15:34275363-34275363
28 SLC12A6 NM_001365088.1(SLC12A6):c.3220dup (p.Met1074fs) Duplication Likely pathogenic 371461 rs1057517289 GRCh37: 15:34528222-34528223
GRCh38: 15:34236021-34236022
29 SLC12A6 NM_001365088.1(SLC12A6):c.298G>T (p.Glu100Ter) SNV Likely pathogenic 370269 rs573444140 GRCh37: 15:34567564-34567564
GRCh38: 15:34275363-34275363
30 SLC12A6 NM_001365088.1(SLC12A6):c.2803-1G>C SNV Likely pathogenic 370290 rs1057516378 GRCh37: 15:34529752-34529752
GRCh38: 15:34237551-34237551
31 SLC12A6 NM_001365088.1(SLC12A6):c.2809C>T (p.Arg937Ter) SNV Likely pathogenic 370137 rs1057516262 GRCh37: 15:34529745-34529745
GRCh38: 15:34237544-34237544
32 SLC12A6 NM_001365088.1(SLC12A6):c.2416G>T (p.Glu806Ter) SNV Likely pathogenic 370149 rs1057516271 GRCh37: 15:34532882-34532882
GRCh38: 15:34240681-34240681
33 SLC12A6 NM_001365088.1(SLC12A6):c.2950_2959del (p.Ser984fs) Deletion Likely pathogenic 371519 rs1057517334 GRCh37: 15:34528992-34529001
GRCh38: 15:34236791-34236800
34 SLC12A6 NM_001365088.1(SLC12A6):c.963C>A (p.Tyr321Ter) SNV Likely pathogenic 370595 rs35583475 GRCh37: 15:34546704-34546704
GRCh38: 15:34254503-34254503
35 SLC12A6 NM_001365088.1(SLC12A6):c.655C>T (p.Gln219Ter) SNV Likely pathogenic 370396 rs1057516456 GRCh37: 15:34549878-34549878
GRCh38: 15:34257677-34257677
36 SLC12A6 NM_001365088.1(SLC12A6):c.3304_3308del (p.Lys1102fs) Deletion Likely pathogenic 370769 rs1057516752 GRCh37: 15:34527435-34527439
GRCh38: 15:34235234-34235238
37 SLC12A6 NM_001365088.1(SLC12A6):c.2803-1G>T SNV Likely pathogenic 370291 rs1057516378 GRCh37: 15:34529752-34529752
GRCh38: 15:34237551-34237551
38 SLC12A6 NM_001365088.1(SLC12A6):c.2437-2A>G SNV Likely pathogenic 370235 rs1057516337 GRCh37: 15:34531363-34531363
GRCh38: 15:34239162-34239162
39 SLC12A6 NM_001365088.1(SLC12A6):c.630G>A (p.Trp210Ter) SNV Likely pathogenic 370961 rs1057516898 GRCh37: 15:34549903-34549903
GRCh38: 15:34257702-34257702
40 SLC12A6 NM_001365088.1(SLC12A6):c.550dup (p.Gln184fs) Duplication Likely pathogenic 371230 rs1057517109 GRCh37: 15:34549982-34549983
GRCh38: 15:34257781-34257782
41 SLC12A6 NM_001365088.1(SLC12A6):c.2423dup (p.Leu808fs) Duplication Likely pathogenic 370371 rs1057516435 GRCh37: 15:34532874-34532875
GRCh38: 15:34240673-34240674
42 SLC12A6 NM_001365088.1(SLC12A6):c.3227+1G>A SNV Likely pathogenic 371054 rs1057516969 GRCh37: 15:34528215-34528215
GRCh38: 15:34236014-34236014
43 SLC12A6 NM_001365088.1(SLC12A6):c.1118+1G>A SNV Likely pathogenic 370139 rs762730861 GRCh37: 15:34546548-34546548
GRCh38: 15:34254347-34254347
44 SLC12A6 NM_001365088.1(SLC12A6):c.2632+1G>A SNV Likely pathogenic 370994 rs1057516925 GRCh37: 15:34531165-34531165
GRCh38: 15:34238964-34238964
45 SLC12A6 NM_001365088.1(SLC12A6):c.569_570GT[3] (p.Tyr192fs) Microsatellite Likely pathogenic 188972 rs775111365 GRCh37: 15:34549960-34549961
GRCh38: 15:34257759-34257760
46 SLC12A6 NM_001365088.1(SLC12A6):c.3400C>T (p.Arg1134Ter) SNV Likely pathogenic 30440 rs606231229 GRCh37: 15:34526135-34526135
GRCh38: 15:34233934-34233934
47 SLC12A6 NM_001365088.1(SLC12A6):c.1005C>T (p.Ile335=) SNV Uncertain significance 159886 rs35855196 GRCh37: 15:34546662-34546662
GRCh38: 15:34254461-34254461
48 SLC12A6 NM_001365088.1(SLC12A6):c.2385C>T (p.Val795=) SNV Uncertain significance 315609 rs562984167 GRCh37: 15:34532913-34532913
GRCh38: 15:34240712-34240712
49 SLC12A6 NM_001365088.1(SLC12A6):c.*3309del Deletion Uncertain significance 315553 rs566619994 GRCh37: 15:34522773-34522773
GRCh38: 15:34230572-34230572
50 SLC12A6 NM_001365088.1(SLC12A6):c.1943+15T>C SNV Uncertain significance 315612 rs200544602 GRCh37: 15:34537471-34537471
GRCh38: 15:34245270-34245270

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 membrane GO:0016021 9.81 SLC12A7 SLC12A6 SLC12A5 SLC12A4 SLC12A2 SLC12A1
2 basolateral plasma membrane GO:0016323 9.43 STK39 SLC12A6 SLC12A2
3 synapse GO:0045202 9.35 SLC12A7 SLC12A6 SLC12A5 SLC12A4 ATP2B2
4 integral component of plasma membrane GO:0005887 9.1 SLC12A7 SLC12A6 SLC12A5 SLC12A4 SLC12A2 ATP2B2

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

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 10 SLC12A7 SLC12A6 SLC12A5 SLC12A4 SLC12A2 SLC12A1
2 transmembrane transport GO:0055085 9.95 SLC12A7 SLC12A6 SLC12A5 SLC12A4 SLC12A2 SLC12A1
3 potassium ion transport GO:0006813 9.85 SLC12A7 SLC12A6 SLC12A5 SLC12A4 SLC12A2 SLC12A1
4 potassium ion transmembrane transport GO:0071805 9.83 SLC12A7 SLC12A6 SLC12A5 SLC12A4 SLC12A2
5 chemical synaptic transmission GO:0007268 9.81 SLC12A7 SLC12A6 SLC12A5 SLC12A4
6 chloride transmembrane transport GO:1902476 9.8 SLC12A7 SLC12A6 SLC12A5 SLC12A4 SLC12A2 SLC12A1
7 potassium ion import across plasma membrane GO:1990573 9.73 SLC12A7 SLC12A6 SLC12A5 SLC12A4 SLC12A2 SLC12A1
8 potassium ion homeostasis GO:0055075 9.63 SLC12A7 SLC12A6 SLC12A5 SLC12A4 SLC12A2 SLC12A1
9 maintenance of permeability of blood-brain barrier GO:0035633 9.58 WNK3 SLC12A2
10 ammonium import across plasma membrane GO:0140157 9.58 SLC12A7 SLC12A6 SLC12A4
11 ion homeostasis GO:0050801 9.57 WNK3 STK39
12 cellular response to chemokine GO:1990869 9.56 STK39 SLC12A2
13 sodium ion homeostasis GO:0055078 9.55 SLC12A2 SLC12A1
14 cellular hypotonic response GO:0071476 9.54 STK39 SLC12A6
15 cellular chloride ion homeostasis GO:0030644 9.52 SLC12A5 SLC12A2
16 positive regulation of ion transmembrane transporter activity GO:0032414 9.49 WNK3 STK39
17 chloride ion homeostasis GO:0055064 9.43 SLC12A7 SLC12A6 SLC12A5 SLC12A4 SLC12A2 SLC12A1
18 cell volume homeostasis GO:0006884 9.17 WNK3 SLC12A7 SLC12A6 SLC12A5 SLC12A4 SLC12A2

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 protein kinase binding GO:0019901 9.85 STK39 SLC12A7 SLC12A6 SLC12A5 SLC12A4 SLC12A2
2 transmembrane transporter activity GO:0022857 9.8 SLC12A7 SLC12A6 SLC12A5 SLC12A4 SLC12A2 SLC12A1
3 symporter activity GO:0015293 9.63 SLC12A7 SLC12A6 SLC12A5 SLC12A4 SLC12A2 SLC12A1
4 ammonium transmembrane transporter activity GO:0008519 9.56 SLC12A7 SLC12A6 SLC12A4 SLC12A2
5 potassium ion transmembrane transporter activity GO:0015079 9.43 SLC12A6 SLC12A2
6 potassium:chloride symporter activity GO:0015379 9.43 SLC12A7 SLC12A6 SLC12A5 SLC12A4 SLC12A2 SLC12A1
7 sodium:potassium:chloride symporter activity GO:0008511 9.4 SLC12A2 SLC12A1
8 cation:chloride symporter activity GO:0015377 9.1 SLC12A7 SLC12A6 SLC12A5 SLC12A4 SLC12A2 SLC12A1

Sources for Agenesis of the Corpus Callosum with Peripheral Neuropathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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