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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Hearing Loss Disease Portal

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Agenesis of Corpus Callosum (D061085)
Parent Node: Peripheral Nervous System Diseases (D010523)
..Starting node ..Corpus callosum agenesis neuronopathy (C536446)
Child Nodes:
Sister Nodes:
..Accessory deep peroneal nerve (C536001)
..Acrodynia (D000170)
..Amyloid Neuropathies (D017772) 3
..Brachial Plexus Neuropathies (D020516) 4
..Cataract ataxia deafness (C538283)
..Complex Regional Pain Syndromes (D020918) 2
..Corpus callosum agenesis neuronopathy (C536446)
..Deafness, X-Linked 5 (C564472)
..Diabetic Neuropathies (D003929) 2
..Giant Axonal Neuropathy (D056768) 1
..Guillain-Barre Syndrome (D020275) 1
..Hand-Arm Vibration Syndrome (D053421)
..Hypertrophic Neuropathy And Cataract (C565490)
..Inherited Peripheral Neuropathy (C548028)
..Isaacs Syndrome (D020386)
..Mononeuropathies (D020422) 15
..Navajo neurohepatopathy (C538344) 1
..Nerve Compression Syndromes (D009408) 13
..Neuralgia (D009437) 6
..Neuritis (D009443) 3
..Neurofibromatosis 1 (D009456) 1
..NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIC (OMIM:613376)
..Neuropathy, Painful (C564945)
..Neuropathy, with Paraprotein in Serum, Cerebrospinal Fluid and Urine (C563516)
..Optic Atrophy, Hearing Loss, and Peripheral Neuropathy, Autosomal Dominant (C563497)
..Pain Insensitivity, Congenital (D000699) 2
..Peripheral Nerve Injuries (D059348)
..Peripheral Nervous System Neoplasms (D010524) 25
..Peripheral Neuropathy, Ataxia, Focal Necrotizing Encephalopathy, and Spongy Degeneration of Brain (C564894)
..Polyneuropathies (D011115) 200
..Radiculopathy (D011843)
..Sacral plexopathy (C537224)
..Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy (C566669)
..Tarlov Cysts (D052958)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

2772

Name:

Corpus callosum agenesis neuronopathy

Definition:

Alternative IDs:

OMIM:218000

ParentIDs:

MESH:D010523|MESH:D061085

TreeNumbers:

C10.500.034/C536446 |C10.668.829/C536446 |C16.131.666.034/C536446 |C23.300.008/C536446

Synonyms:

Slim Mappings:

Congenital abnormality|Nervous system disease|Pathology (anatomical condition)

Reference:

MedGen: C536446
MeSH: C536446
OMIM: 218000;

Genes: SLC12A6;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0004691	2-3 toe syndactyly
3	HP:0001274	Agenesis of corpus callosum
4	HP:0001284	Areflexia
5	HP:0003378	Axonal degeneration/regeneration
6	HP:0000248	Brachycephaly
7	HP:0003431	Decreased motor nerve conduction velocity
8	HP:0003448	Decreased sensory nerve conduction velocity
9	HP:0003444	EMG: chronic denervation signs
10	HP:0000324	Facial asymmetry
11	HP:0001349	Facial diplegia
12	HP:0001371	Flexion contracture
13	HP:0001290	Generalized hypotonia
14	HP:0001263	Global developmental delay
15	HP:0000218	High palate
16	HP:0000316	Hypertelorism
17	HP:0000327	Hypoplasia of the maxilla
18	HP:0002922	Increased CSF protein
19	HP:0001249	Intellectual disability
20	HP:0003690	Limb muscle weakness
21	HP:0200085	Limb tremor
22	HP:0000276	Long face
23	HP:0000294	Low anterior hairline
24	HP:0000400	Macrotia
25	HP:0001270	Motor delay
26	HP:0007178	Motor polyneuropathy
27	HP:0000341	Narrow forehead
28	HP:0001319	Neonatal hypotonia
29	HP:0002111	obsolete Restrictive deficit on pulmonary function testing
30	HP:0003383	Onion bulb formation
31	HP:0003477	Peripheral axonal neuropathy
32	HP:0001271	Polyneuropathy
33	HP:0003676	Progressive
34	HP:0000709	Psychosis
35	HP:0000508	Ptosis
36	HP:0011947	Respiratory tract infection
37	HP:0002650	Scoliosis
38	HP:0001250	Seizure
39	HP:0000763	Sensory neuropathy
40	HP:0003196	Short nose
41	HP:0003202	Skeletal muscle atrophy
42	HP:0001182	Tapered finger
43	HP:0002119	Ventriculomegaly
44	HP:0000431	Wide nasal bridge

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_005135.2(SLC12A6):c.3247C>T (p.Arg1083Ter)	9990	SLC12A6	Pathogenic	606231229	RCV000023393;	N	MedGen:C0795950,OMIM:218000,ORPHA:1496	15	34526135	34526135	NM_005135.2:c.3247C>T	NP_005126.1:p.Arg1083Ter	NC_000015.9:g.34526135G>A	OMIM Allelic Variant:604878.0010	C0795950 218000 Andermann syndrome
NM_133647.1(SLC12A6):c.3031C>T (p.Arg1011Ter)	9990	SLC12A6	Pathogenic	121908427	RCV000005652;	N	MedGen:C0795950,OMIM:218000,ORPHA:1496	15	34528920	34528920	NM_133647.1:c.3031C>T	NP_598408.1:p.Arg1011Ter	NC_000015.9:g.34528920G>A	OMIM Allelic Variant:604878.0003	C0795950 218000 Andermann syndrome
NM_005135.2(SLC12A6):c.2841_2850delCCAGATGCTC (p.Gln948Glyfs)	9990	SLC12A6	Pathogenic	606231158	RCV000005658;	N	MedGen:C0795950,OMIM:218000,ORPHA:1496	15	34528948	34528957	NM_005135.2:c.2841_2850delCCAGATGCTC	NP_005126.1:p.Gln948Glyfs	NC_000015.9:g.34528948_34528957delGAGCATCTGG	OMIM Allelic Variant:604878.0009	C0795950 218000 Andermann syndrome
NM_133647.1(SLC12A6):c.2436delG (p.Thr813Profs)	9990	SLC12A6	Pathogenic	515726215	RCV000005650;	N	MedGen:C0795950,OMIM:218000,ORPHA:1496	15	34532862	34532862	NM_133647.1:c.2436delG	NP_598408.1:p.Thr813Profs		OMIM Allelic Variant:604878.0001	C0795950 218000 Andermann syndrome
NM_005135.2(SLC12A6):c.1879dupT (p.Tyr627Leufs)	9990	SLC12A6	Pathogenic	515726217	RCV000123393;	N	MedGen:C0795950,OMIM:218000,ORPHA:1496	15	34536185	34536185	NM_005135.2:c.1879dupT	NP_005126.1:p.Tyr627Leufs		OMIM Allelic Variant:604878.0005	C0795950 218000 Andermann syndrome
NM_133647.1(SLC12A6):c.2023C>T (p.Arg675Ter)	9990	SLC12A6	Pathogenic	121908428	RCV000005653;	N	MedGen:C0795950,OMIM:218000,ORPHA:1496	15	34536194	34536194	NM_133647.1:c.2023C>T	NP_598408.1:p.Arg675Ter	NC_000015.9:g.34536194G>A	OMIM Allelic Variant:604878.0004	C0795950 218000 Andermann syndrome
NM_133647.1(SLC12A6):c.1584_1585delCTinsG (p.Phe529Leufs)	9990	SLC12A6	Pathogenic	515726216	RCV000123392;	N	MedGen:C0795950,OMIM:218000,ORPHA:1496	15	34542838	34542839	NM_133647.1:c.1584_1585delCTinsG	NP_598408.1:p.Phe529Leufs		OMIM Allelic Variant:604878.0002	C0795950 218000 Andermann syndrome
NM_133647.1(SLC12A6):c.1478_1485delTTCCCTCT (p.Phe493Cysfs)	9990	SLC12A6	Pathogenic	515726218	RCV000123394;	N	MedGen:C0795950,OMIM:218000,ORPHA:1496	15	34543107	34543114	NM_133647.1:c.1478_1485delTTCCCTCT	NP_598408.1:p.Phe493Cysfs		OMIM Allelic Variant:604878.0006	C0795950 218000 Andermann syndrome
NM_133647.1(SLC12A6):c.1005C>T (p.Ile335=)	9990	SLC12A6	Uncertain significance	35855196	RCV000147473;	N	MedGen:C0795950,OMIM:218000,ORPHA:1496	15	34546662	34546662	NM_133647.1:c.1005C>T	NP_598408.1:p.Ile335=	NC_000015.9:g.34546662G>A	-	C0795950 218000 Andermann syndrome
NM_133647.1(SLC12A6):c.940A>T (p.Met314Leu)	9990	SLC12A6	Uncertain significance	34491959	RCV000147489;	N	MedGen:C0795950,OMIM:218000,ORPHA:1496	15	34546727	34546727	NM_133647.1:c.940A>T	NP_598408.1:p.Met314Leu	NC_000015.9:g.34546727T>A	-	C0795950 218000 Andermann syndrome
NM_005135.2(SLC12A6):c.748delA (p.Ile250Serfs)	9990	SLC12A6	Pathogenic	606231157	RCV000005656;	N	MedGen:C0795950,OMIM:218000,ORPHA:1496	15	34546766	34546766	NM_005135.2:c.748delA	NP_005126.1:p.Ile250Serfs	NC_000015.9:g.34546766delT	OMIM Allelic Variant:604878.0007	C0795950 218000 Andermann syndrome
NM_005135.2(SLC12A6):c.466C>T (p.Arg156Cys)	9990	SLC12A6	Pathogenic	121908429	RCV000005657;	N	MedGen:C0795950,OMIM:218000,ORPHA:1496	15	34549914	34549914	NM_005135.2:c.466C>T	NP_005126.1:p.Arg156Cys	NC_000015.9:g.34549914G>A	OMIM Allelic Variant:604878.0008	C0795950 218000 Andermann syndrome
NM_133647.1(SLC12A6):c.571_572dupGT (p.Tyr192Serfs)	9990	SLC12A6	Likely pathogenic	775111365	RCV000169349;	N	MedGen:C0795950,OMIM:218000,ORPHA:1496	15	34549961	34549962	NM_133647.1:c.571_572dupGT	NP_598408.1:p.Tyr192Serfs	NC_000015.9:g.34549961_34549962dupAC	-	C0795950 218000 Andermann syndrome
NM_133647.1(SLC12A6):c.379G>T (p.Glu127Ter)	9990	SLC12A6	Pathogenic	199747285	RCV000147487;	N	MedGen:C0795950,OMIM:218000,ORPHA:1496	15	34553159	34553159	NM_133647.1:c.379G>T	NP_598408.1:p.Glu127Ter	NC_000015.9:g.34553159C>A	-	C0795950 218000 Andermann syndrome