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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: Arthrogryposis (D001176)
Parent Node: Hereditary Sensory and Motor Neuropathy (D015417)
..Starting node ..Tomaculous neuropathy (C536965)
Child Nodes:
Sister Nodes:
..Alstrom Syndrome (D056769)
..Cardioneuromyopathy with Hyaline Masses and Nemaline Rods (C564655)
..Charcot-Marie-Tooth Disease (D002607) 59
..Giant Axonal Neuropathy (D056768) 1
..Hagemoser Weinstein Bresnick syndrome (C537626)
..Hereditary Motor And Sensory Neuropathy VI (C562851)
..Hypertrichosis, Congenital Anterior Cervical, with Peripheral Sensory and Motor Neuropathy (C565492)
..Neuropathy, Distal Hereditary Motor, Type VIIA (C563562)
..Neuropathy, hereditary motor and sensory, Okinawa type (C535717)
..Neuropathy, hereditary motor and sensory, Russe type (C535813)
..Neuropathy, Hereditary Motor and Sensory, with Excessive Myelin Folding Complex, Autosomal Recessive (C564947)
..Neuropathy, Hereditary Sensorimotor, with Upper Motor Neuron, Visual Pathway and Autonomic Disturbance (C563517)
..Neuropathy, Hereditary Sensory, with Spastic Paraplegia, Autosomal Recessive (C564948)
..Neuropathy, Hereditary Thermosensitive (C566575)
..Polyneuropathy, Lethal Neonatal, Axonal Sensorimotor, Autosomal Recessive (C565773)
..Refsum Disease (D012035) 4
..Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis (C537583)
..Slowed Nerve Conduction Velocity, Autosomal Dominant (C564269)
..Spastic Paraplegia, Hereditary (D015419) 78
..Spastic Paraplegia, Optic Atrophy, and Neuropathy (C563702)
..Tamari Goodman syndrome (C536896)
..Tomaculous neuropathy (C536965)
..Tremor hereditary essential, 2 (C536546)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

11120

Name:

Tomaculous neuropathy

Definition:

Alternative IDs:

OMIM:162500

ParentIDs:

MESH:D001176|MESH:D015417

TreeNumbers:

C05.550.150/C536965 |C05.651.102/C536965 |C05.660.077/C536965 |C10.500.300/C536965 |C10.574.500.495/C536965 |C10.668.829.800.300/C536965 |C16.131.621.077/C536965 |C16.131.666.300/C536965 |C16.320.400.375/C536965

Synonyms:

Slim Mappings:

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

Reference:

MedGen: C536965
MeSH: C536965
OMIM: 162500;

Genes: PMP22;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0003431	Decreased motor nerve conduction velocity
3	HP:0001265	Hyporeflexia
4	HP:0001324	Muscle weakness
5	HP:0003481	Segmental peripheral demyelination/remyelination
6	HP:0001605	Vocal cord paralysis

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_000304.3(PMP22):c.353C>T (p.Thr118Met)	5376	PMP22	Pathogenic;Uncertain significance	104894619	RCV000032119; RCV000008946; RCV000008945; RCV000194789; RCV000197572;	N	MedGen:C0270911,OMIM:118220,ORPHA:101081,SNOMED CT:40632002; MedGen:C0393814,OMIM:162500,ORPHA:640,SNOMED CT:230558006; MedGen:C0751036,SNOMED CT:398040009; MedGen:CN069173; MedGen:CN169374	17	15134364	15134364	NM_000304.3:c.353C>T	NP_000295.1:p.Thr118Met	NC_000017.10:g.15134364G>A	OMIM Allelic Variant:601097.0005	CN069173 Charcot-Marie-Tooth disease, type 1a, autosomal recessive; C0751036 Charcot-Marie-Tooth disease, type I; C0270911 118220 Charcot-Marie-Tooth disease, type IA; C0393814 162500 Hereditary liability to pressure palsies; CN169374 not specified
NM_000304.3(PMP22):c.281dupG (p.Arg95Glnfs)	5376	PMP22	Pathogenic	80338763	RCV000201059; RCV000008952; RCV000033899;	N	MedGen:C0270911,OMIM:118220,ORPHA:101081,SNOMED CT:40632002; MedGen:C0393814,OMIM:162500,ORPHA:640,SNOMED CT:230558006; MedGen:C1843225,OMIM:607684,ORPHA:99939	17	15142826	15142826	NM_000304.3:c.281dupG	NP_000295.1:p.Arg95Glnfs	NC_000017.10:g.15142826dupC	OMIM Allelic Variant:601097.0011	C1843225 607684 Charcot-Marie-Tooth disease type 2E; C0270911 118220 Charcot-Marie-Tooth disease, type IA; C0393814 162500 Hereditary liability to pressure palsies
NM_000304.3(PMP22):c.199G>A (p.Ala67Thr)	5376	PMP22	Pathogenic	104894623	RCV000008956;	N	MedGen:C0393814,OMIM:162500,ORPHA:640,SNOMED CT:230558006	17	15142908	15142908	NM_000304.3:c.199G>A	NP_000295.1:p.Ala67Thr	NC_000017.10:g.15142908C>G,NC_000017.10:g.15142908C>T	OMIM Allelic Variant:601097.0017	C0393814 162500 Hereditary liability to pressure palsies
NM_000304.3(PMP22):c.65C>T (p.Ser22Phe)	5376	PMP22	Pathogenic	104894625	RCV000008959; RCV000008958;	N	MedGen:C0270911,OMIM:118220,ORPHA:101081,SNOMED CT:40632002; MedGen:C0393814,OMIM:162500,ORPHA:640,SNOMED CT:230558006	17	15163980	15163980	NM_000304.3:c.65C>T	NP_000295.1:p.Ser22Phe	NC_000017.10:g.15163980G>A	OMIM Allelic Variant:601097.0019	C0270911 118220 Charcot-Marie-Tooth disease, type IA; C0393814 162500 Hereditary liability to pressure palsies
NM_000304.3(PMP22):c.19_20delAG (p.Ser7Tyrfs)	5376	PMP22	Pathogenic	587776691	RCV000008950;	N	MedGen:C0393814,OMIM:162500,ORPHA:640,SNOMED CT:230558006	17	15164025	15164026	NM_000304.3:c.19_20delAG	NP_000295.1:p.Ser7Tyrfs		OMIM Allelic Variant:601097.0009	C0393814 162500 Hereditary liability to pressure palsies