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Hello! Guest! Please Login or Register! Clinician Mode

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: Heredodegenerative Disorders, Nervous System (D020271)
Parent Node: Hirschsprung Disease (D006627)
Parent Node: Polyneuropathies (D011115)
Parent Node: Waardenburg Syndrome (D014849)
..Starting node ..Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease (C563789)
Child Nodes:
Sister Nodes:
..ABCD syndrome (C535334)
..Anophthalmos with limb anomalies (C537769)
..Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease (C563789)
..Van der Hoeve Halbertsma Waardenburg Gualdi Syndrome (C538657)
..Waardenburg syndrome type 2 (C536463)
..Waardenburg syndrome type 2A (C536464)
..Waardenburg syndrome type 2B (C536465)
..Waardenburg Syndrome, Type 2C (C564684)
..Waardenburg Syndrome, Type 2D (C563839)
..Waardenburg syndrome, type 4 (C536467) 1
..Waardenburg Syndrome, Type 4b (C567680)
..Waardenburg Syndrome, Type 4c (C567679)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

8816

Name:

Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease

Definition:

Alternative IDs:

OMIM:609136

ParentIDs:

MESH:D006627|MESH:D011115|MESH:D014849|MESH:D020271

TreeNumbers:

C06.198.439/C563789 |C06.405.469.158.701.439/C563789 |C10.574.500/C563789 |C10.668.829.800/C563789 |C16.131.077.938/C563789 |C16.131.314.439/C563789 |C16.320.400/C563789

Synonyms:

PCWH |Waardenburg-Shah Syndrome, Neurologic Variant

Slim Mappings:

Congenital abnormality|Digestive system disease|Genetic disease (inborn)|Nervous system disease

Reference:

MedGen: C563789
MeSH: C563789
OMIM: 609136;

Genes: SOX10;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0002271	obsolete Autonomic dysregulation
3	HP:0004463	Absent brainstem auditory responses
4	HP:0000522	Alacrima
5	HP:0000458	Anosmia
6	HP:0001284	Areflexia
7	HP:0001251	Ataxia
8	HP:0007266	Cerebral dysmyelination
9	HP:0000028	Cryptorchidism
10	HP:0000762	Decreased nerve conduction velocity
11	HP:0007108	Demyelinating peripheral neuropathy
12	HP:0003693	Distal amyotrophy
13	HP:0002460	Distal muscle weakness
14	HP:0002936	Distal sensory impairment
15	HP:0006978	Dysmyelinating leukodystrophy
16	HP:0001263	Global developmental delay
17	HP:0001100	Heterochromia iridis
18	HP:0001053	Hypopigmented skin patches
19	HP:0011382	Hypoplasia of the semicircular canal
20	HP:0001265	Hyporeflexia
21	HP:0001249	Intellectual disability
22	HP:0011285	Long-segment aganglionic megacolon
23	HP:0004336	Myelin outfoldings
24	HP:0001319	Neonatal hypotonia
25	HP:0000639	Nystagmus
26	HP:0011096	Peripheral demyelination
27	HP:0007182	Peripheral hypomyelination
28	HP:0001761	Pes cavus
29	HP:0000407	Sensorineural hearing impairment
30	HP:0002313	Spastic paraparesis
31	HP:0002510	Spastic tetraplegia
32	HP:0002226	White eyebrow
33	HP:0002227	White eyelashes
34	HP:0002211	White forelock

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_006941.3(SOX10):c.1400_10delAAAGGGGGCCCT (p.467Cysext*82)	-1	-	Pathogenic	397515368	RCV000007824;	N	MedGen:C1836727,OMIM:609136,ORPHA:163746	22	38369492	38369503	NM_006941.3:c.1400_*10delAAAGGGGGCCCT	NP_008872.1:p.467Cysext82	NC_000022.10:g.38369492_38369503delAGGGCCCCCTTT	OMIM Allelic Variant:602229.0008	C1836727 609136 Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease
NM_006941.3(SOX10):c.1127C>G (p.Ser376Ter)	-1	-	Likely pathogenic	483353058	RCV000119813;	N	MedGen:C1836727,OMIM:609136,ORPHA:163746	22	38369776	38369776	NM_006941.3:c.1127C>G	NP_008872.1:p.Ser376Ter	NC_000022.10:g.38369776G>C	-	C1836727 609136 Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease
NM_006941.3(SOX10):c.939C>G (p.Tyr313Ter)	-1	-	Pathogenic	74315516	RCV000007822;	N	MedGen:C1836727,OMIM:609136,ORPHA:163746	22	38369964	38369964	NM_006941.3:c.939C>G	NP_008872.1:p.Tyr313Ter	NC_000022.10:g.38369964G>C	OMIM Allelic Variant:602229.0006	C1836727 609136 Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease
NM_006941.3(SOX10):c.915delG (p.His306Thrfs)	-1	-	Pathogenic	397515372	RCV000007837;	N	MedGen:C1836727,OMIM:609136,ORPHA:163746	22	38369988	38369988	NM_006941.3:c.915delG	NP_008872.1:p.His306Thrfs	NC_000022.10:g.38369988delC	OMIM Allelic Variant:602229.0020	C1836727 609136 Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease
NM_006941.3(SOX10):c.797delG (p.Gly266Alafs)	-1	-	Pathogenic	397515371	RCV000007836;	N	MedGen:C1836727,OMIM:609136,ORPHA:163746	22	38370106	38370106	NM_006941.3:c.797delG	NP_008872.1:p.Gly266Alafs	NC_000022.10:g.38370106delC	OMIM Allelic Variant:602229.0019	C1836727 609136 Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease
NM_006941.3(SOX10):c.752C>A (p.Ser251Ter)	-1	-	Pathogenic	74315518	RCV000007823;	N	MedGen:C1836727,OMIM:609136,ORPHA:163746	22	38370151	38370151	NM_006941.3:c.752C>A	NP_008872.1:p.Ser251Ter	NC_000022.10:g.38370151G>T	OMIM Allelic Variant:602229.0007	C1836727 609136 Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease
NM_006941.3(SOX10):c.748C>T (p.Gln250Ter)	-1	-	Pathogenic	74315521	RCV000007828;	N	MedGen:C1836727,OMIM:609136,ORPHA:163746	22	38370155	38370155	NM_006941.3:c.748C>T	NP_008872.1:p.Gln250Ter	NC_000022.10:g.38370155G>A	OMIM Allelic Variant:602229.0011	C1836727 609136 Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease