CMTDIE
MCID: CHR522
MIFTS: 41

Charcot-Marie-Tooth Disease, Dominant Intermediate E (CMTDIE)

Categories: Ear diseases, Eye diseases, Genetic diseases, Metabolic diseases, Muscle diseases, Nephrological diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Charcot-Marie-Tooth Disease, Dominant Intermediate E

MalaCards integrated aliases for Charcot-Marie-Tooth Disease, Dominant Intermediate E:

Name: Charcot-Marie-Tooth Disease, Dominant Intermediate E 57 20 29 13 6 70
Cmtdie 57 12 20 58 72
Charcot-Marie-Tooth Neuropathy with Focal Segmental Glomerulonephritis 57 12 20 72
Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease Type E 12 20 58
Charcot-Marie-Tooth Disease Dominant Intermediate E 12 15
Charcot-Marie-Tooth Disease-Nephropathy Syndrome 12 58
Charcot-Marie-Tooth Disease, Dominant, Intermediate Type, E 72
Charcot-Marie-Tooth Disease, Dominant Intermediate, Type E 39
Charcot-Marie-Tooth Disease - Nephropathy 20

Characteristics:

Orphanet epidemiological data:

58
autosomal dominant intermediate charcot-marie-tooth disease type e
Inheritance: Autosomal dominant,Not applicable; Prevalence: <1/1000000 (Worldwide);

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

Miscellaneous:
median onset of proteinuria is 18 years (range 10 to 21)
median onset of neurologic symptoms is 13 years (range 5 to 28)
progressive disorder regarding both neurologic and renal symptoms


HPO:

31
charcot-marie-tooth disease, dominant intermediate e:
Inheritance autosomal dominant inheritance
Onset and clinical course progressive


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare renal diseases


External Ids:

Disease Ontology 12 DOID:0110205
OMIM® 57 614455
OMIM Phenotypic Series 57 PS118220
MeSH 44 D002607
ICD10 32 G60.0
ICD10 via Orphanet 33 G60.0
Orphanet 58 ORPHA93114
MedGen 41 C3280845
UMLS 70 C3280845

Summaries for Charcot-Marie-Tooth Disease, Dominant Intermediate E

UniProtKB/Swiss-Prot : 72 Charcot-Marie-Tooth disease, dominant, intermediate type, E: A form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. The dominant intermediate type E is characterized by clinical and pathologic features intermediate between demyelinating and axonal peripheral neuropathies, and motor median nerve conduction velocities ranging from 25 to 45 m/sec. Patients additionally manifest focal segmental glomerulonephritis, proteinuria, progression to end- stage renal disease, and a characteristic histologic pattern on renal biopsy.

MalaCards based summary : Charcot-Marie-Tooth Disease, Dominant Intermediate E, also known as cmtdie, is related to autosomal dominant intermediate charcot-marie-tooth and charcot-marie-tooth disease. An important gene associated with Charcot-Marie-Tooth Disease, Dominant Intermediate E is INF2 (Inverted Formin 2). Affiliated tissues include eye and kidney, and related phenotypes are stage 5 chronic kidney disease and proteinuria

Disease Ontology : 12 A Charcot-Marie-Tooth disease intermediate type that has material basis in heterozygous mutation in the INF2 gene on chromosome 14q32.

OMIM® : 57 Autosomal dominant intermediate Charcot-Marie-Tooth disease E with focal segmental glomerulonephritis is characterized by the neurologic features of CMT, including distal muscle weakness and atrophy and distal sensory loss, and the features of FSGS, including proteinuria, progression to end-stage renal disease, and a characteristic histologic pattern on renal biopsy (summary by Boyer et al., 2011). Isolated focal segmental glomerulosclerosis-5 (FSGS5; 613237) is also caused by heterozygous mutation in the INF2 gene. For a discussion of genetic heterogeneity of CMTDI, see 606482. (614455) (Updated 20-May-2021)

Related Diseases for Charcot-Marie-Tooth Disease, Dominant Intermediate E

Diseases in the Charcot-Marie-Tooth Disease family:

Charcot-Marie-Tooth Disease, Type 4a Charcot-Marie-Tooth Disease, Type 4b1
Charcot-Marie-Tooth Disease, Type 4d Charcot-Marie-Tooth Disease, Type 4c
Charcot-Marie-Tooth Disease, Type 4b2 Charcot-Marie-Tooth Disease, Dominant Intermediate B
Charcot-Marie-Tooth Disease, Dominant Intermediate a Charcot-Marie-Tooth Disease, Dominant Intermediate D
Charcot-Marie-Tooth Disease, Dominant Intermediate C Charcot-Marie-Tooth Disease, Recessive Intermediate a
Charcot-Marie-Tooth Disease, Type 4h Charcot-Marie-Tooth Disease, Type 4j
Charcot-Marie-Tooth Disease, Recessive Intermediate B Charcot-Marie-Tooth Disease, Dominant Intermediate E
Charcot-Marie-Tooth Disease, Dominant Intermediate F Charcot-Marie-Tooth Disease, Type 4b3
Charcot-Marie-Tooth Disease, Recessive Intermediate C Charcot-Marie-Tooth Disease, Recessive Intermediate D
Charcot-Marie-Tooth Disease, Type 4k Charcot-Marie-Tooth Disease, Dominant Intermediate G
Charcot-Marie-Tooth Disease Type X Charcot-Marie-Tooth Disease Intermediate Type
Charcot-Marie-Tooth Disease Type 5 Charcot-Marie-Tooth Disease Type 7
Charcot-Marie-Tooth Disease Type 2a2a Charcot-Marie-Tooth Disease Type 2a2b
Charcot-Marie-Tooth Disease Type 1g Autosomal Dominant Intermediate Charcot-Marie-Tooth
Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease Charcot-Marie-Tooth Disease Type 2a
Charcot-Marie-Tooth Disease Type 2l Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Kif5a Mutation
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Tfg Mutation Dnajb2-Related Charcot-Marie-Tooth Disease Type 2
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Dgat2 Mutation Autosomal Dominant Charcot-Marie-Tooth Disease Type 2g

Diseases related to Charcot-Marie-Tooth Disease, Dominant Intermediate E via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 69)
# Related Disease Score Top Affiliating Genes
1 autosomal dominant intermediate charcot-marie-tooth 30.8 SH3TC2 INF2
2 charcot-marie-tooth disease 28.5 SH3TC2 SBF2 MTMR2 MPZ INF2 GDAP1
3 tooth disease 28.5 SH3TC2 SBF2 MTMR2 MPZ INF2 GDAP1
4 focal segmental glomerulosclerosis 5 11.0
5 proteinuria, chronic benign 10.4
6 focal segmental glomerulosclerosis 10.4
7 genetic motor neuron disease 10.1 SH3TC2 MPZ
8 charcot-marie-tooth disease, dominant intermediate d 10.0 SH3TC2 MPZ
9 neuropathy, hereditary motor and sensory, russe type 10.0 SH3TC2 GDAP1
10 pupil disease 10.0 MPZ GDAP1
11 argyll robertson pupil 10.0 MPZ GDAP1
12 abnormal pupillary function 10.0 MPZ GDAP1
13 charcot-marie-tooth disease, dominant intermediate a 10.0 MPZ GDAP1
14 mononeuropathy 10.0 SH3TC2 MPZ
15 charcot-marie-tooth disease, axonal, type 2w 10.0 MPZ GDAP1
16 charcot-marie-tooth disease, axonal, type 2t 10.0 SH3TC2 GDAP1
17 charcot-marie-tooth disease, axonal, type 2a1 10.0 MPZ GDAP1
18 neuronopathy, distal hereditary motor, type viib 10.0 SH3TC2 DYNC1H1
19 nerve compression syndrome 10.0 SH3TC2 MPZ
20 charcot-marie-tooth disease, axonal, type 2l 10.0 MPZ GDAP1
21 charcot-marie-tooth disease, dominant intermediate c 9.9 MPZ GDAP1
22 charcot-marie-tooth disease, x-linked recessive, 2 9.9 MPZ DYNC1H1
23 spinal muscular atrophy with lower extremity predominance 9.9 GDAP1 DYNC1H1
24 charcot-marie-tooth disease, axonal, type 2f 9.9 MPZ GDAP1
25 carpal tunnel syndrome 9.9 SH3TC2 MPZ
26 charcot-marie-tooth disease, axonal, type 2b2 9.9 MPZ GDAP1
27 charcot-marie-tooth disease, axonal, type 2k 9.9 GDAP1 DYNC1H1
28 early-onset glaucoma 9.9 SBF2 MTMR2
29 motor peripheral neuropathy 9.8 SH3TC2 DYNC1H1
30 charcot-marie-tooth disease, axonal, type 2i 9.8 SH3TC2 MPZ GDAP1
31 hereditary motor and sensory neuropathy, type iic 9.8 SH3TC2 MPZ GDAP1
32 charcot-marie-tooth disease, axonal, type 2d 9.8 SH3TC2 MPZ GDAP1
33 hereditary neuropathies 9.8 MTMR2 MPZ
34 polyneuropathy 9.8 SH3TC2 MPZ GDAP1
35 corneal dystrophy, fleck 9.8 SBF2 MTMR2
36 motor neuron disease 9.7 SH3TC2 MPZ DYNC1H1
37 myopathy, centronuclear, x-linked 9.7 SBF2 MTMR2
38 centronuclear myopathy 9.6 SBF2 MTMR2
39 yunis-varon syndrome 9.6 SBF2 MTMR2 GDAP1
40 charcot-marie-tooth disease, demyelinating, type 1d 9.6 MTMR2 MPZ GDAP1
41 sensory peripheral neuropathy 9.6 MTMR2 MPZ GDAP1
42 intraocular pressure quantitative trait locus 9.5 SBF2 MTMR2
43 charcot-marie-tooth disease type x 9.4 SH3TC2 MTMR2 MPZ GDAP1
44 charcot-marie-tooth disease, x-linked dominant, 1 9.4 SH3TC2 MTMR2 MPZ GDAP1
45 charcot-marie-tooth disease, axonal, type 2j 9.1 SH3TC2 SBF2 MTMR2 MPZ GDAP1
46 charcot-marie-tooth disease, type 4b3 9.1 SH3TC2 SBF2 MTMR2 MPZ GDAP1
47 charcot-marie-tooth disease, demyelinating, type 4f 9.1 SH3TC2 SBF2 MTMR2 MPZ GDAP1
48 charcot-marie-tooth disease, dominant intermediate b 9.1 SH3TC2 SBF2 MTMR2 MPZ GDAP1
49 charcot-marie-tooth disease, type 4a 9.1 SH3TC2 SBF2 MTMR2 MPZ GDAP1
50 charcot-marie-tooth disease, type 4h 9.1 SH3TC2 SBF2 MTMR2 MPZ GDAP1

Graphical network of the top 20 diseases related to Charcot-Marie-Tooth Disease, Dominant Intermediate E:



Diseases related to Charcot-Marie-Tooth Disease, Dominant Intermediate E

Symptoms & Phenotypes for Charcot-Marie-Tooth Disease, Dominant Intermediate E

Human phenotypes related to Charcot-Marie-Tooth Disease, Dominant Intermediate E:

31 (show all 16)
# Description HPO Frequency HPO Source Accession
1 stage 5 chronic kidney disease 31 occasional (7.5%) HP:0003774
2 proteinuria 31 HP:0000093
3 areflexia 31 HP:0001284
4 split hand 31 HP:0001171
5 pes cavus 31 HP:0001761
6 hyporeflexia 31 HP:0001265
7 steppage gait 31 HP:0003376
8 hammertoe 31 HP:0001765
9 distal muscle weakness 31 HP:0002460
10 distal sensory impairment 31 HP:0002936
11 foot dorsiflexor weakness 31 HP:0009027
12 distal upper limb amyotrophy 31 HP:0007149
13 distal lower limb amyotrophy 31 HP:0008944
14 focal segmental glomerulosclerosis 31 HP:0000097
15 axonal loss 31 HP:0003447
16 onion bulb formation 31 HP:0003383

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Genitourinary Kidneys:
proteinuria
focal segmental glomerulosclerosis
end-stage renal disease (in some)

Skeletal Feet:
pes cavus
hammertoes

Head And Neck Ears:
deafness, sensorineural (in some patients)

Neurologic Peripheral Nervous System:
areflexia
hyporeflexia
distal sensory impairment
onion bulb formation
distal limb muscle atrophy due to peripheral neuropathy
more
Skeletal Hands:
claw hands

Muscle Soft Tissue:
amyotrophy, distal, upper and lower limbs

Clinical features from OMIM®:

614455 (Updated 20-May-2021)

MGI Mouse Phenotypes related to Charcot-Marie-Tooth Disease, Dominant Intermediate E:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.63 DYNC1H1 GDAP1 MPZ MTMR2 SBF2 SH3TC2
2 nervous system MP:0003631 9.43 DYNC1H1 GDAP1 MPZ MTMR2 SBF2 SH3TC2
3 reproductive system MP:0005389 9.1 DYNC1H1 GDAP1 INF2 MPZ MTMR2 SBF2

Drugs & Therapeutics for Charcot-Marie-Tooth Disease, Dominant Intermediate E

Search Clinical Trials , NIH Clinical Center for Charcot-Marie-Tooth Disease, Dominant Intermediate E

Genetic Tests for Charcot-Marie-Tooth Disease, Dominant Intermediate E

Genetic tests related to Charcot-Marie-Tooth Disease, Dominant Intermediate E:

# Genetic test Affiliating Genes
1 Charcot-Marie-Tooth Disease, Dominant Intermediate E 29 INF2

Anatomical Context for Charcot-Marie-Tooth Disease, Dominant Intermediate E

MalaCards organs/tissues related to Charcot-Marie-Tooth Disease, Dominant Intermediate E:

40
Eye, Kidney

Publications for Charcot-Marie-Tooth Disease, Dominant Intermediate E

Articles related to Charcot-Marie-Tooth Disease, Dominant Intermediate E:

(show all 12)
# Title Authors PMID Year
1
INF2 mutations in Charcot-Marie-Tooth disease with glomerulopathy. 6 57
22187985 2011
2
Charcot-Marie-Tooth disease and nephritis. 6 57
6054293 1967
3
Comprehensive genetic diagnosis of Japanese patients with severe proteinuria. 6
31937884 2020
4
A cryptic splicing mutation in the INF2 gene causing Charcot-Marie-Tooth disease with minimal glomerular dysfunction. 6
30680856 2019
5
Genetic analysis of Charcot-Marie-Tooth disease in Denmark and the implementation of a next generation sequencing platform. 6
29653220 2019
6
Molecular diagnosis of inherited peripheral neuropathies by targeted next-generation sequencing: molecular spectrum delineation. 6
30373780 2018
7
Disease causing mutations in inverted formin 2 regulate its binding to G-actin, F-actin capping protein (CapZ α-1) and profilin 2. 6
26764407 2016
8
Inverted formin 2-related Charcot-Marie-Tooth disease: extension of the mutational spectrum and pathological findings in Schwann cells and axons. 6
25676889 2015
9
Novel INF2 mutations in an Italian cohort of patients with focal segmental glomerulosclerosis, renal failure and Charcot-Marie-Tooth neuropathy. 6
25165188 2014
10
Mutations in the formin gene INF2 cause focal segmental glomerulosclerosis. 6
20023659 2010
11
Distal muscle wasting, nephritis, and deafness. 57
5462235 1970
12
Neuropathologic characterization of INF2-related Charcot-Marie-Tooth disease: evidence for a Schwann cell actinopathy. 61
24487800 2014

Variations for Charcot-Marie-Tooth Disease, Dominant Intermediate E

ClinVar genetic disease variations for Charcot-Marie-Tooth Disease, Dominant Intermediate E:

6 (show top 50) (show all 407)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 INF2 NM_022489.4(INF2):c.310T>C (p.Cys104Arg) SNV Pathogenic 30864 rs387907034 GRCh37: 14:105168012-105168012
GRCh38: 14:104701675-104701675
2 INF2 NM_022489.4(INF2):c.311G>T (p.Cys104Phe) SNV Pathogenic 30865 rs387907035 GRCh37: 14:105168013-105168013
GRCh38: 14:104701676-104701676
3 INF2 NM_022489.4(INF2):c.395T>G (p.Leu132Arg) SNV Pathogenic 30868 rs387907038 GRCh37: 14:105169445-105169445
GRCh38: 14:104703108-104703108
4 INF2 INF2, 9-BP DEL, NT490 Deletion Pathogenic 30869 GRCh37:
GRCh38:
5 INF2 NM_022489.4(INF2):c.383T>C (p.Leu128Pro) SNV Pathogenic 30867 rs387907037 GRCh37: 14:105168085-105168085
GRCh38: 14:104701748-104701748
6 INF2 NM_022489.4(INF2):c.1286_1287del (p.Leu429fs) Deletion Pathogenic 1028270 GRCh37: 14:105173890-105173891
GRCh38: 14:104707553-104707554
7 INF2 NM_022489.4(INF2):c.312C>G (p.Cys104Trp) SNV Pathogenic 30866 rs387907036 GRCh37: 14:105168014-105168014
GRCh38: 14:104701677-104701677
8 INF2 NM_022489.4(INF2):c.218G>T (p.Gly73Val) SNV Pathogenic 472842 rs918089359 GRCh37: 14:105167920-105167920
GRCh38: 14:104701583-104701583
9 INF2 NM_022489.4(INF2):c.490_498del (p.Ala164_Asp166del) Deletion Pathogenic 472868 rs1555373599 GRCh37: 14:105169532-105169540
GRCh38: 14:104703195-104703203
10 INF2 NM_022489.4(INF2):c.271C>G (p.Arg91Gly) SNV Pathogenic 841546 GRCh37: 14:105167973-105167973
GRCh38: 14:104701636-104701636
11 INF2 NM_022489.4(INF2):c.312C>G (p.Cys104Trp) SNV Pathogenic 30866 rs387907036 GRCh37: 14:105168014-105168014
GRCh38: 14:104701677-104701677
12 INF2 NM_022489.4(INF2):c.653G>A (p.Arg218Gln) SNV Pathogenic 1051 rs267607183 GRCh37: 14:105169777-105169777
GRCh38: 14:104703440-104703440
13 INF2 NM_022489.4(INF2):c.170T>C (p.Leu57Pro) SNV Pathogenic 637700 rs1595163736 GRCh37: 14:105167872-105167872
GRCh38: 14:104701535-104701535
14 INF2 NM_022489.4(INF2):c.314T>A (p.Val105Glu) SNV Likely pathogenic 472835 rs1555373363 GRCh37: 14:105168016-105168016
GRCh38: 14:104701679-104701679
15 INF2 NM_022489.4(INF2):c.311G>A (p.Cys104Tyr) SNV Likely pathogenic 617764 rs387907035 GRCh37: 14:105168013-105168013
GRCh38: 14:104701676-104701676
16 INF2 NM_022489.4(INF2):c.226CTG[2] (p.Leu78del) Microsatellite Likely pathogenic 976701 GRCh37: 14:105167928-105167930
GRCh38: 14:104701591-104701593
17 INF2 NM_022489.4(INF2):c.2977C>G (p.Arg993Gly) SNV Uncertain significance 472847 rs935688609 GRCh37: 14:105179880-105179880
GRCh38: 14:104713543-104713543
18 INF2 NM_022489.4(INF2):c.554T>C (p.Leu185Pro) SNV Uncertain significance 472869 rs1555373625 GRCh37: 14:105169678-105169678
GRCh38: 14:104703341-104703341
19 INF2 NM_022489.4(INF2):c.440T>C (p.Leu147Pro) SNV Uncertain significance 472867 rs1555373588 GRCh37: 14:105169490-105169490
GRCh38: 14:104703153-104703153
20 INF2 NM_022489.4(INF2):c.3598G>C (p.Asp1200His) SNV Uncertain significance 472856 rs764338863 GRCh37: 14:105181097-105181097
GRCh38: 14:104714760-104714760
21 INF2 NM_022489.4(INF2):c.148T>G (p.Tyr50Asp) SNV Uncertain significance 472837 rs1555373261 GRCh37: 14:105167850-105167850
GRCh38: 14:104701513-104701513
22 INF2 NM_022489.4(INF2):c.1771G>A (p.Asp591Asn) SNV Uncertain significance 447576 rs369421697 GRCh37: 14:105174808-105174808
GRCh38: 14:104708471-104708471
23 INF2 NM_022489.4(INF2):c.3703C>T (p.Pro1235Ser) SNV Uncertain significance 472862 rs201091360 GRCh37: 14:105181629-105181629
GRCh38: 14:104715292-104715292
24 INF2 NM_022489.4(INF2):c.2641G>A (p.Glu881Lys) SNV Uncertain significance 472844 rs1314746427 GRCh37: 14:105179195-105179195
GRCh38: 14:104712858-104712858
25 INF2 NM_022489.4(INF2):c.3606G>A (p.Ser1202=) SNV Uncertain significance 472857 rs756383109 GRCh37: 14:105181105-105181105
GRCh38: 14:104714768-104714768
26 INF2 NM_022489.4(INF2):c.3729_3732del (p.Lys1243fs) Deletion Uncertain significance 930687 GRCh37: 14:105181652-105181655
GRCh38: 14:104715315-104715318
27 INF2 NM_022489.4(INF2):c.2406C>G (p.His802Gln) SNV Uncertain significance 982800 GRCh37: 14:105177511-105177511
GRCh38: 14:104711174-104711174
28 INF2 NM_022489.4(INF2):c.3103G>A (p.Gly1035Ser) SNV Uncertain significance 387417 rs368995122 GRCh37: 14:105180602-105180602
GRCh38: 14:104714265-104714265
29 INF2 NM_022489.4(INF2):c.397G>A (p.Asp133Asn) SNV Uncertain significance 472865 rs774135330 GRCh37: 14:105169447-105169447
GRCh38: 14:104703110-104703110
30 INF2 NM_022489.4(INF2):c.3224G>A (p.Arg1075His) SNV Uncertain significance 472851 rs370169829 GRCh37: 14:105180723-105180723
GRCh38: 14:104714386-104714386
31 INF2 NM_022489.4(INF2):c.2053A>G (p.Ile685Val) SNV Uncertain significance 312700 rs199526439 GRCh37: 14:105175957-105175957
GRCh38: 14:104709620-104709620
32 INF2 NM_022489.4(INF2):c.186C>T (p.Gly62=) SNV Uncertain significance 472840 rs1555373276 GRCh37: 14:105167888-105167888
GRCh38: 14:104701551-104701551
33 INF2 NM_022489.4(INF2):c.2672G>A (p.Arg891Gln) SNV Uncertain significance 472846 rs777498088 GRCh37: 14:105179226-105179226
GRCh38: 14:104712889-104712889
34 INF2 NM_022489.4(INF2):c.2052+3A>G SNV Uncertain significance 472841 rs1382855956 GRCh37: 14:105175723-105175723
GRCh38: 14:104709386-104709386
35 INF2 NM_022489.4(INF2):c.3133C>T (p.Arg1045Trp) SNV Uncertain significance 472850 rs780428043 GRCh37: 14:105180632-105180632
GRCh38: 14:104714295-104714295
36 INF2 NM_022489.4(INF2):c.3550G>A (p.Ala1184Thr) SNV Uncertain significance 312710 rs374684004 GRCh37: 14:105181049-105181049
GRCh38: 14:104714712-104714712
37 INF2 NM_022489.4(INF2):c.733C>G (p.Leu245Val) SNV Uncertain significance 472870 rs765986755 GRCh37: 14:105172403-105172403
GRCh38: 14:104706066-104706066
38 INF2 NM_022489.4(INF2):c.3412C>G (p.Leu1138Val) SNV Uncertain significance 472853 rs759925463 GRCh37: 14:105180911-105180911
GRCh38: 14:104714574-104714574
39 INF2 NM_022489.4(INF2):c.3734_3735TG[3] (p.Val1247fs) Microsatellite Uncertain significance 472863 rs753327806 GRCh37: 14:105181660-105181661
GRCh38: 14:104715323-104715324
40 INF2 NM_022489.4(INF2):c.3476G>A (p.Arg1159His) SNV Uncertain significance 390764 rs200591522 GRCh37: 14:105180975-105180975
GRCh38: 14:104714638-104714638
41 INF2 NM_022489.4(INF2):c.3221G>A (p.Arg1074Lys) SNV Uncertain significance 245863 rs201445955 GRCh37: 14:105180720-105180720
GRCh38: 14:104714383-104714383
42 INF2 NM_022489.4(INF2):c.2989G>A (p.Asp997Asn) SNV Uncertain significance 540041 rs370719592 GRCh37: 14:105179892-105179892
GRCh38: 14:104713555-104713555
43 INF2 NM_022489.4(INF2):c.1957G>A (p.Glu653Lys) SNV Uncertain significance 540042 rs368576387 GRCh37: 14:105175625-105175625
GRCh38: 14:104709288-104709288
44 INF2 NM_022489.4(INF2):c.1962G>C (p.Glu654Asp) SNV Uncertain significance 540043 rs1378876029 GRCh37: 14:105175630-105175630
GRCh38: 14:104709293-104709293
45 INF2 NM_022489.4(INF2):c.2984A>G (p.Asp995Gly) SNV Uncertain significance 540044 rs748234626 GRCh37: 14:105179887-105179887
GRCh38: 14:104713550-104713550
46 INF2 NM_022489.4(INF2):c.2755C>G (p.Leu919Val) SNV Uncertain significance 540045 rs377145979 GRCh37: 14:105179309-105179309
GRCh38: 14:104712972-104712972
47 INF2 NM_022489.4(INF2):c.1771G>C (p.Asp591His) SNV Uncertain significance 540046 rs369421697 GRCh37: 14:105174808-105174808
GRCh38: 14:104708471-104708471
48 INF2 NM_022489.4(INF2):c.3625A>G (p.Arg1209Gly) SNV Uncertain significance 540047 rs989477091 GRCh37: 14:105181124-105181124
GRCh38: 14:104714787-104714787
49 INF2 NM_022489.4(INF2):c.3535A>G (p.Thr1179Ala) SNV Uncertain significance 426793 rs778879482 GRCh37: 14:105181034-105181034
GRCh38: 14:104714697-104714697
50 INF2 NM_022489.4(INF2):c.150C>A (p.Tyr50Ter) SNV Uncertain significance 540048 rs1555373267 GRCh37: 14:105167852-105167852
GRCh38: 14:104701515-104701515

UniProtKB/Swiss-Prot genetic disease variations for Charcot-Marie-Tooth Disease, Dominant Intermediate E:

72
# Symbol AA change Variation ID SNP ID
1 INF2 p.Glu184Lys VAR_063077 rs156677867
2 INF2 p.Cys104Phe VAR_067589 rs387907035
3 INF2 p.Cys104Arg VAR_067590 rs387907034
4 INF2 p.Cys104Trp VAR_067591 rs387907036
5 INF2 p.Leu128Pro VAR_067592 rs387907037
6 INF2 p.Leu132Arg VAR_067593 rs387907038
7 INF2 p.Val105Gly VAR_073988
8 INF2 p.Leu132Pro VAR_073990

Expression for Charcot-Marie-Tooth Disease, Dominant Intermediate E

Search GEO for disease gene expression data for Charcot-Marie-Tooth Disease, Dominant Intermediate E.

Pathways for Charcot-Marie-Tooth Disease, Dominant Intermediate E

GO Terms for Charcot-Marie-Tooth Disease, Dominant Intermediate E

Cellular components related to Charcot-Marie-Tooth Disease, Dominant Intermediate E according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 vacuolar membrane GO:0005774 8.62 SBF2 MTMR2

Biological processes related to Charcot-Marie-Tooth Disease, Dominant Intermediate E according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 myelination GO:0042552 8.62 SBF2 MPZ

Sources for Charcot-Marie-Tooth Disease, Dominant Intermediate E

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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