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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: Charcot-Marie-Tooth Disease (D002607)
Parent Node: Deafness (D003638)
..Starting node ..Charcot-Marie-Tooth Disease, Demyelinating, Type 1e (C566136)
Child Nodes:
Sister Nodes:
..Albinism deafness syndrome (C537042)
..ALPORT SYNDROME, X-LINKED (OMIM:301050)
..Arthrogryposis multiplex with deafness, inguinal hernias, and early death (C535381)
..Ayazi syndrome (C537793)
..Branchiogenic-Deafness Syndrome (C563780)
..Burn-Mckeown syndrome (C537411)
..Cardioauditory syndrome of Sanchez Cascos (C535577)
..Charcot-Marie-Tooth Disease, Demyelinating, Type 1e (C566136)
..Corneal Degeneration, Ribbonlike, with Deafness (C565157)
..Coxoauricular Syndrome (C565148)
..Davenport Donlan syndrome (C535988)
..Deaf-Blind Disorders (D054062) 26
..Deafness hyperuricemia neurologic ataxia (C535995)
..Deafness with Labyrinthine Aplasia Microtia and Microdontia (LAMM) (C548011)
..DEAFNESS, AUTOSOMAL DOMINANT 22;DFNA22 DEAFNESS, AUTOSOMAL DOMINANT 22, WITH HYPERTROPHIC CARDIOMYOPATHY, (OMIM:606346)
..DEAFNESS, AUTOSOMAL DOMINANT 27 (OMIM:612431)
..DEAFNESS, AUTOSOMAL DOMINANT 33 (OMIM:614211)
..DEAFNESS, AUTOSOMAL DOMINANT 4A (OMIM:600652)
..DEAFNESS, AUTOSOMAL DOMINANT 50 (OMIM:613074)
..DEAFNESS, AUTOSOMAL DOMINANT 51 (OMIM:613558)
..DEAFNESS, AUTOSOMAL RECESSIVE 18A (OMIM:602092)
..DEAFNESS, AUTOSOMAL RECESSIVE 25 (OMIM:613285)
..DEAFNESS, AUTOSOMAL RECESSIVE 36, WITH OR WITHOUT VESTIBULAR INVOLVEMENT (OMIM:609006)
..DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT (OMIM:600791)
..DEAFNESS, AUTOSOMAL RECESSIVE 45 (OMIM:612433)
..DEAFNESS, AUTOSOMAL RECESSIVE 74 (OMIM:613718)
..DEAFNESS, AUTOSOMAL RECESSIVE 83 (OMIM:613685)
..DEAFNESS, AUTOSOMAL RECESSIVE 84A (OMIM:613391)
..DEAFNESS, AUTOSOMAL RECESSIVE 85 (OMIM:613392)
..DEAFNESS, AUTOSOMAL RECESSIVE 89 (OMIM:613916)
..DEAFNESS, AUTOSOMAL RECESSIVE 91 (OMIM:613453)
..Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities (C567467)
..Deafness, congenital onychodystrophy, recessive form (C538204)
..Deafness, Congenital, and Familial Myoclonic Epilepsy (C565649)
..Deafness, Congenital, and Onychodystrophy, Autosomal Dominant (C567274)
..Deafness, Congenital, with Vitiligo and Achalasia (C565642)
..DEAFNESS, NONSYNDROMIC, MODIFIER 1 (OMIM:605429)
..DEAFNESS, Y-LINKED 1 (OMIM:400043)
..Dementia, familial Danish (C538209)
..Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, And Mental Retardation (C566408)
..Emphysema, Congenital, With Deafness, Penoscrotal Web, And Mental Retardation (C566519)
..Epiphyseal Dysplasia of Femoral Head, Myopia, and Deafness (C565585)
..Fine-Lubinsky syndrome (C537933)
..Fountain syndrome (C537270)
..Herrmann syndrome (C538113)
..Hirschsprung Disease with Polydactyly, Renal Agenesis, and Deafness (C565518)
..Hyperlipoproteinemia, Type II, and Deafness (C564170)
..HYPERTELORISM, PREAURICULAR SINUS, PUNCTAL PITS, AND DEAFNESS (OMIM:614187)
..Ichthyosiform erythroderma, corneal involvement, deafness (C537363)
..Johnson neuroectodermal syndrome (C535882)
..Jones syndrome (C535886)
..Keratitis, Ichthyosis, and Deafness (KID) Syndrome (C536168)
..Konigsmark Knox Hussels syndrome (C537214)
..Lynch Lee Murday syndrome (C537713)
..Mental retardation-hypotonic facies syndrome, x-linked, 1 (C537457)
..Meyenburg-Altherr-Uehlinger syndrome (C537574)
..Microcephaly deafness syndrome (C537326)
..MUCKLE-WELLS SYNDROME (OMIM:191900)
..MULTIPLE SYNOSTOSES SYNDROME 1 (OMIM:186500)
..Myoclonic Epilepsy, Congenital Deafness, Macular Dystrophy, and Psychiatric Disorders (C565786)
..Myoclonus, Cerebellar Ataxia, and Deafness (C563549)
..Nasodigitoacoustic syndrome (C538337)
..Nathalie syndrome (C538342)
..Nephrosis deafness urinary tract digital malformation (C536402)
..Noninsulin-dependent diabetes mellitus with deafness (C536246)
..Nonsyndromic Deafness (C580334)
..Opticocochleodentate Degeneration (C563002)
..PERRAULT SYNDROME 3 (OMIM:614129)
..Ramos Arroyo Clark syndrome (C535286)
..Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness (C567595)
..Richards-Rundle syndrome (C535674)
..Schimke X-linked mental retardation syndrome (C536630)
..Schlegelberger Grote syndrome (C536635)
..Secretory Diarrhea, Myopathy, and Deafness (C564382)
..Spastic paraplegia 24 (C536860)
..Temtamy preaxial brachydactyly syndrome (C536958)
..Tibia, Absence of, with Congenital Deafness (C564764)
..Tietz syndrome (C536919)
..Wells Jankovic syndrome (C536692)
..Wright Dyck syndrome (C536749)
..X-linked mental retardation Gustavson type (C536759)
..Yemenite deaf-blind hypopigmentation syndrome (C536771)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

2010

Name:

Charcot-Marie-Tooth Disease, Demyelinating, Type 1e

Definition:

Alternative IDs:

OMIM:118300

ParentIDs:

MESH:D002607|MESH:D003638

TreeNumbers:

C09.218.458.341.186/C566136 |C10.500.300.200/C566136 |C10.574.500.495.200/C566136 |C10.597.751.418.341.186/C566136 |C10.668.829.800.300.200/C566136 |C16.131.666.300.200/C566136 |C16.320.400.375.200/C566136 |C23.888.592.763.393.341.186/C566136

Synonyms:

CHARCOT-MARIE-TOOTH DISEASE AND DEAFNESS |CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1E |Charcot-Marie-Tooth Neuropathy And Deafness, Autosomal Dominant |Cmt1e

Slim Mappings:

Congenital abnormality|Ear-nose-throat disease|Genetic disease (inborn)|Nervous system disease|Signs and symptoms

Reference:

MedGen: C566136
MeSH: C566136
OMIM: 118300;

Genes: PMP22;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0011463	Childhood onset
3	HP:0003621	Juvenile onset
4	HP:0001284	Areflexia
5	HP:0003431	Decreased motor nerve conduction velocity
6	HP:0003693	Distal amyotrophy
7	HP:0002460	Distal muscle weakness
8	HP:0002936	Distal sensory impairment
9	HP:0009027	Foot dorsiflexor weakness
10	HP:0001765	Hammertoe
11	HP:0001265	Hyporeflexia
12	HP:0003690	Limb muscle weakness
13	HP:0001761	Pes cavus
14	HP:0000407	Sensorineural hearing impairment
15	HP:0001171	Split hand
16	HP:0003376	Steppage gait
17	HP:0001884	Talipes calcaneovalgus

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.469C>T (p.Arg157Trp)	5376	PMP22	Pathogenic	28936682	RCV000008957; RCV000193053;	N	MedGen:C1861669,OMIM:118300,ORPHA:90103; MedGen:CN069172	17	15134248	15134248	NM_000304.3:c.469C>T	NP_000295.1:p.Arg157Trp	NC_000017.10:g.15134248G>A	OMIM Allelic Variant:601097.0018	CN069172 Autosomal recessive Dejerine-Sottas syndrome; C1861669 118300 Charcot-Marie-Tooth disease, type IE
NM_000304.3(PMP22):c.344_355delCCATCTACACGG (p.Ala115_Thr118del)	5376	PMP22	Pathogenic	786205111	RCV000023073;	N	MedGen:C1861669,OMIM:118300,ORPHA:90103	17	15134362	15134373	NM_000304.3:c.344_355delCCATCTACACGG	NP_000295.1:p.Ala115_Thr118del	NC_000017.10:g.15134362_15134373delCCGTGTAGATGG	OMIM Allelic Variant:601097.0015	C1861669 118300 Charcot-Marie-Tooth disease, type IE
NM_000304.3(PMP22):c.199G>C (p.Ala67Pro)	5376	PMP22	Pathogenic	104894623	RCV000008951;	N	MedGen:C1861669,OMIM:118300,ORPHA:90103	17	15142908	15142908	NM_000304.3:c.199G>C	NP_000295.1:p.Ala67Pro	NC_000017.10:g.15142908C>G,NC_000017.10:g.15142908C>T	OMIM Allelic Variant:601097.0010	C1861669 118300 Charcot-Marie-Tooth disease, type IE
NM_000304.3(PMP22):c.117G>C (p.Trp39Cys)	5376	PMP22	Pathogenic	797044846	RCV000195195;	N	MedGen:C1861669,OMIM:118300,ORPHA:90103	17	15162472	15162472	NM_000304.3:c.117G>C	NP_000295.1:p.Trp39Cys	NC_000017.10:g.15162472C>G	-	C1861669 118300 Charcot-Marie-Tooth disease, type IE
NM_000304.3(PMP22):c.82T>C (p.Trp28Arg)	5376	PMP22	Pathogenic	104894626	RCV000023072;	N	MedGen:C1861669,OMIM:118300,ORPHA:90103	17	15162507	15162507	NM_000304.3:c.82T>C	NP_000295.1:p.Trp28Arg	NC_000017.10:g.15162507A>G	OMIM Allelic Variant:601097.0014	C1861669 118300 Charcot-Marie-Tooth disease, type IE