CMT4H
MCID: CHR421
MIFTS: 46

Charcot-Marie-Tooth Disease, Type 4h (CMT4H)

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

Aliases & Classifications for Charcot-Marie-Tooth Disease, Type 4h

MalaCards integrated aliases for Charcot-Marie-Tooth Disease, Type 4h:

Name: Charcot-Marie-Tooth Disease, Type 4h 57 20 29 13 6 39 70
Cmt4h 57 12 20 58 72
Charcot-Marie-Tooth Disease Type 4h 12 20 58 15
Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive, Type 4h 57 20
Charcot-Marie-Tooth Disease, Autosomal Recessive, Type 4h 57 20
Charcot-Marie-Tooth Neuropathy, Type 4h 57 20
Charcot-Marie-Tooth Neuropathy Type 4h 12 72
Autosomal Recessive Demyelinating Charcot-Marie-Tooth Disease Type 4h 12
Charcot-Marie-Tooth Disease Demyelinating Autosomal Recessive 4h 72
Autosomal Recessive Charcot-Marie-Tooth Disease Type 4h 12
Charcot-Marie-Tooth Disease 4h 72

Characteristics:

Orphanet epidemiological data:

58
charcot-marie-tooth disease type 4h
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM®:

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

Miscellaneous:
usually begins in feet and legs (peroneal distribution)
onset before age 2 years
severe disorder
genetic heterogeneity (see cmt4a )


HPO:

31
charcot-marie-tooth disease, type 4h:
Inheritance autosomal recessive inheritance heterogeneous
Onset and clinical course infantile onset


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0110192
OMIM® 57 609311
OMIM Phenotypic Series 57 PS118220
MeSH 44 D002607
ICD10 32 G60.0
ICD10 via Orphanet 33 G60.0
UMLS via Orphanet 71 C1836336
Orphanet 58 ORPHA99954
MedGen 41 C1836336
UMLS 70 C1836336

Summaries for Charcot-Marie-Tooth Disease, Type 4h

UniProtKB/Swiss-Prot : 72 Charcot-Marie-Tooth disease 4H: A recessive demyelinating 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. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Demyelinating neuropathies are characterized by severely reduced nerve conduction velocities (less than 38 m/sec), segmental demyelination and remyelination with onion bulb formations on nerve biopsy, slowly progressive distal muscle atrophy and weakness, absent deep tendon reflexes, and hollow feet. By convention autosomal recessive forms of demyelinating Charcot-Marie-Tooth disease are designated CMT4.

MalaCards based summary : Charcot-Marie-Tooth Disease, Type 4h, also known as cmt4h, is related to hereditary neuropathies and neuropathy, hereditary motor and sensory, russe type, and has symptoms including waddling gait An important gene associated with Charcot-Marie-Tooth Disease, Type 4h is FGD4 (FYVE, RhoGEF And PH Domain Containing 4), and among its related pathways/superpathways are Signaling by Rho GTPases and Regulation of actin cytoskeleton. Affiliated tissues include eye, and related phenotypes are scoliosis and waddling gait

Disease Ontology : 12 A Charcot-Marie-Tooth disease type 4 that has material basis in mutations in the gene encoding frabin (FGD4).

More information from OMIM: 609311 PS118220

Related Diseases for Charcot-Marie-Tooth Disease, Type 4h

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, Type 4h via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 69)
# Related Disease Score Top Affiliating Genes
1 hereditary neuropathies 30.7 PRX MTMR2 MPZ
2 neuropathy, hereditary motor and sensory, russe type 30.1 SH3TC2 GDAP1
3 peripheral nervous system disease 29.4 SH3TC2 SBF2 PRX MTMR2 MPZ GDAP1
4 neuropathy 29.3 SH3TC2 SBF2 PRX MTMR2 MPZ GDAP1
5 tooth disease 29.2 SH3TC2 SBF2 SBF1 PRX MTMR2 MPZ
6 neuropathy, congenital hypomyelinating, 1, autosomal recessive 28.8 SH3TC2 SBF2 SBF1 PRX PIKFYVE MTMR2
7 charcot-marie-tooth disease 28.6 SH3TC2 SBF2 SBF1 PRX PIKFYVE MTMR2
8 glucocorticoid deficiency 4 with or without mineralocorticoid deficiency 10.7
9 scoliosis 10.6
10 kearns-sayre syndrome 10.3
11 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.3
12 impotence 10.3
13 muscular atrophy 10.3
14 genetic motor neuron disease 10.1 SH3TC2 MPZ
15 charcot-marie-tooth disease, dominant intermediate d 10.1 SH3TC2 MPZ
16 slowed nerve conduction velocity, autosomal dominant 10.1 MPZ ARHGEF10
17 pupil disease 10.1 MPZ GDAP1
18 argyll robertson pupil 10.1 MPZ GDAP1
19 charcot-marie-tooth disease, axonal, type 2t 10.1 SH3TC2 GDAP1
20 abnormal pupillary function 10.1 MPZ GDAP1
21 mononeuropathy 10.1 SH3TC2 MPZ
22 charcot-marie-tooth disease, axonal, type 2w 10.1 MPZ GDAP1
23 ritscher-schinzel syndrome 2 10.1 MCF2 CDC42
24 charcot-marie-tooth disease, axonal, type 2a1 10.0 MPZ GDAP1
25 charcot-marie-tooth disease, axonal, type 2l 10.0 MPZ GDAP1
26 charcot-marie-tooth disease, dominant intermediate c 10.0 MPZ GDAP1
27 nerve compression syndrome 10.0 SH3TC2 MPZ
28 neuropathy, hereditary sensory and autonomic, type iia 10.0 SH3TC2 GDAP1 FGD4
29 early-onset glaucoma 10.0 SBF2 SBF1 MTMR2
30 charcot-marie-tooth disease, axonal, type 2f 10.0 MPZ GDAP1
31 charcot-marie-tooth disease, axonal, type 2p 10.0 GDAP1 ARHGEF10
32 charcot-marie-tooth disease, dominant intermediate a 10.0 PRX MPZ GDAP1
33 hereditary motor and sensory neuropathy, type iic 9.9 SH3TC2 MPZ GDAP1
34 charcot-marie-tooth disease, axonal, type 2d 9.9 SH3TC2 MPZ GDAP1
35 charcot-marie-tooth disease, demyelinating, type 1d 9.8 PRX MTMR2 MPZ GDAP1
36 charcot-marie-tooth disease type x 9.8 SH3TC2 MTMR2 MPZ GDAP1
37 charcot-marie-tooth disease, axonal, type 2i 9.8 SH3TC2 PRX MPZ GDAP1
38 polyneuropathy 9.8 SH3TC2 PRX MPZ GDAP1
39 corneal dystrophy, fleck 9.7 SBF2 PIKFYVE MTMR2 FIG4
40 charcot-marie-tooth disease, axonal, type 2b2 9.7 MPZ GDAP1
41 striatonigral degeneration 9.7 PIKFYVE FIG4
42 charcot-marie-tooth disease, dominant intermediate e 9.7 SH3TC2 SBF2 MTMR2 MPZ GDAP1
43 charcot-marie-tooth disease intermediate type 9.7 SH3TC2 SBF2 MTMR2 MPZ GDAP1
44 sensory peripheral neuropathy 9.7 PRX MTMR2 MPZ GDAP1 FGD4
45 charcot-marie-tooth disease, dominant intermediate b 9.7 SH3TC2 SBF2 MTMR2 MPZ GDAP1
46 aarskog-scott syndrome 9.6 MCF2 FGD4 FGD3 FGD1 CDC42
47 charcot-marie-tooth disease, axonal, type 2b 9.6 SH3TC2 SBF2 MTMR2 MPZ GDAP1 FIG4
48 charcot-marie-tooth disease, type 4a 9.6 SH3TC2 SBF2 PRX MTMR2 MPZ GDAP1
49 charcot-marie-tooth disease, x-linked dominant, 1 9.6 SH3TC2 PRX MTMR2 MPZ GDAP1 FIG4
50 myopathy, centronuclear, x-linked 9.5 SBF2 SBF1 PIKFYVE MTMR2

Graphical network of the top 20 diseases related to Charcot-Marie-Tooth Disease, Type 4h:



Diseases related to Charcot-Marie-Tooth Disease, Type 4h

Symptoms & Phenotypes for Charcot-Marie-Tooth Disease, Type 4h

Human phenotypes related to Charcot-Marie-Tooth Disease, Type 4h:

31 (show all 15)
# Description HPO Frequency HPO Source Accession
1 scoliosis 31 HP:0002650
2 waddling gait 31 HP:0002515
3 motor delay 31 HP:0001270
4 talipes equinovarus 31 HP:0001762
5 areflexia 31 HP:0001284
6 pes cavus 31 HP:0001761
7 hyporeflexia 31 HP:0001265
8 decreased motor nerve conduction velocity 31 HP:0003431
9 distal lower limb muscle weakness 31 HP:0009053
10 distal sensory impairment 31 HP:0002936
11 upper limb muscle weakness 31 HP:0003484
12 distal lower limb amyotrophy 31 HP:0008944
13 decreased number of peripheral myelinated nerve fibers 31 HP:0003380
14 peripheral demyelination 31 HP:0011096
15 onion bulb formation 31 HP:0003383

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Skeletal Spine:
scoliosis

Skeletal Feet:
pes cavus
pes equinus

Neurologic Peripheral Nervous System:
areflexia
hyporeflexia
distal sensory impairment
delayed motor development
decreased motor nerve conduction velocity (ncv) (less than 38 m/s)
more

Clinical features from OMIM®:

609311 (Updated 20-May-2021)

UMLS symptoms related to Charcot-Marie-Tooth Disease, Type 4h:


waddling gait

GenomeRNAi Phenotypes related to Charcot-Marie-Tooth Disease, Type 4h according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00249-S 9.44 MPZ SH3TC2
2 Decreased viability GR00381-A-1 9.44 CDC42 FGD4 FIG4 MCF2 MPZ PRX
3 Decreased viability GR00381-A-3 9.44 MPZ
4 Decreased viability GR00386-A-1 9.44 MPZ
5 Decreased viability GR00402-S-2 9.44 FGD4 MPZ

MGI Mouse Phenotypes related to Charcot-Marie-Tooth Disease, Type 4h:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.73 ARHGEF10 FGD4 FIG4 GDAP1 MCF2 MPZ
2 nervous system MP:0003631 9.4 ARHGEF10 FGD4 FIG4 GDAP1 MCF2 MPZ

Drugs & Therapeutics for Charcot-Marie-Tooth Disease, Type 4h

Search Clinical Trials , NIH Clinical Center for Charcot-Marie-Tooth Disease, Type 4h

Genetic Tests for Charcot-Marie-Tooth Disease, Type 4h

Genetic tests related to Charcot-Marie-Tooth Disease, Type 4h:

# Genetic test Affiliating Genes
1 Charcot-Marie-Tooth Disease, Type 4h 29 FGD4

Anatomical Context for Charcot-Marie-Tooth Disease, Type 4h

MalaCards organs/tissues related to Charcot-Marie-Tooth Disease, Type 4h:

40
Eye

Publications for Charcot-Marie-Tooth Disease, Type 4h

Articles related to Charcot-Marie-Tooth Disease, Type 4h:

(show all 14)
# Title Authors PMID Year
1
Further evidence that mutations in FGD4/frabin cause Charcot-Marie-Tooth disease type 4H. 61 57 6
19332693 2009
2
A novel Frabin (FGD4) nonsense mutation p.R275X associated with phenotypic variability in CMT4H. 61 6 57
19221294 2009
3
Mutations in FGD4 encoding the Rho GDP/GTP exchange factor FRABIN cause autosomal recessive Charcot-Marie-Tooth type 4H. 6 61 57
17564959 2007
4
Homozygosity mapping of autosomal recessive demyelinating Charcot-Marie-Tooth neuropathy (CMT4H) to a novel locus on chromosome 12p11.21-q13.11. 6 57 61
15744041 2005
5
Peripheral nerve demyelination caused by a mutant Rho GTPase guanine nucleotide exchange factor, frabin/FGD4. 6 57
17564972 2007
6
A very mild phenotype of Charcot-Marie-Tooth disease type 4H caused by two novel mutations in FGD4. 61
31152969 2019
7
A novel mutation in FGD4 causes Charcot-Marie-Tooth disease type 4H with cranial nerve involvement. 61
28847448 2017
8
Charcot-Marie-Tooth Disease Type 4H Resulting from Compound Heterozygous Mutations in FGD4 from Nonconsanguineous Korean Families. 61
26400421 2015
9
The first Japanese case of Charcot-Marie-Tooth disease type 4H with a novel FGD4 c.837-1G>A mutation. 61
23770104 2013
10
Charcot-Marie-Tooth Neuropathy Type 4H – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY 61
23926620 2013
11
A novel mutation in FGD4/FRABIN causes Charcot Marie Tooth disease type 4H in patients from a consanguineous Tunisian family. 61
23550889 2013
12
Myelin is dependent on the Charcot-Marie-Tooth Type 4H disease culprit protein FRABIN/FGD4 in Schwann cells. 61
23171661 2012
13
Two novel missense mutations in FGD4/FRABIN cause Charcot-Marie-Tooth type 4H (CMT4H). 61
22734899 2012
14
Charcot-Marie-Tooth Neuropathy Type 4 – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY 61
20301641 1998

Variations for Charcot-Marie-Tooth Disease, Type 4h

ClinVar genetic disease variations for Charcot-Marie-Tooth Disease, Type 4h:

6 (show top 50) (show all 184)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 FGD4 NM_139241.3(FGD4):c.1698G>H (p.Met566Ile) SNV Pathogenic 38444 rs281865064 GRCh37: 12:32778650-32778650
GRCh38: 12:32625716-32625716
2 FGD4 NM_139241.3(FGD4):c.514del (p.Ala172fs) Deletion Pathogenic 598938 rs1565869918 GRCh37: 12:32735312-32735312
GRCh38: 12:32582378-32582378
3 FGD4 NM_139241.3(FGD4):c.2211dup (p.Ala738fs) Duplication Pathogenic 598939 rs1565942358 GRCh37: 12:32793376-32793377
GRCh38: 12:32640442-32640443
4 FGD4 NM_139241.3(FGD4):c.670C>T (p.Arg224Ter) SNV Pathogenic 1011 rs118203972 GRCh37: 12:32751500-32751500
GRCh38: 12:32598566-32598566
5 FGD4 NM_001304481.1(FGD4):c.1881_1882AG[1] (p.Glu628fs) Microsatellite Pathogenic 1013 rs1565921326 GRCh37: 12:32777993-32777994
GRCh38: 12:32625059-32625060
6 FGD4 NM_139241.3(FGD4):c.893T>C (p.Met298Thr) SNV Pathogenic 1015 rs63749871 GRCh37: 12:32755151-32755151
GRCh38: 12:32602217-32602217
7 FGD4 NM_139241.3(FGD4):c.823C>T (p.Arg275Ter) SNV Pathogenic 1016 rs118203974 GRCh37: 12:32754344-32754344
GRCh38: 12:32601410-32601410
8 FGD4 NM_139241.3(FGD4):c.1762-2A>G SNV Pathogenic 1017 rs281865065 GRCh37: 12:32786481-32786481
GRCh38: 12:32633547-32633547
9 FGD4 NM_139241.3(FGD4):c.1325G>A (p.Arg442His) SNV Pathogenic 38443 rs281865063 GRCh37: 12:32764204-32764204
GRCh38: 12:32611270-32611270
10 FGD4 NM_139241.3(FGD4):c.893T>G (p.Met298Arg) SNV Pathogenic 38445 rs63749871 GRCh37: 12:32755151-32755151
GRCh38: 12:32602217-32602217
11 FGD4 FGD4, 893T-G SNV Pathogenic 1012 GRCh37:
GRCh38:
12 FGD4 NM_139241.3(FGD4):c.1756G>T (p.Gly586Ter) SNV Pathogenic 1014 rs118203973 GRCh37: 12:32778708-32778708
GRCh38: 12:32625774-32625774
13 FGD4 NM_139241.3(FGD4):c.494dup (p.Leu167fs) Duplication Likely pathogenic 812029 rs1592294998 GRCh37: 12:32735294-32735295
GRCh38: 12:32582360-32582361
14 FGD4 GRCh37/hg19 12p11.21(chr12:32717818-32778686)x4 copy number gain Likely pathogenic 598942 GRCh37: 12:32711272-32788014
GRCh38:
15 FGD4 NM_139241.3(FGD4):c.255A>T (p.Ala85=) SNV Conflicting interpretations of pathogenicity 215968 rs139357821 GRCh37: 12:32735056-32735056
GRCh38: 12:32582122-32582122
16 FGD4 NM_001304481.1(FGD4):c.220C>A (p.Pro74Thr) SNV Uncertain significance 308284 rs199744649 GRCh37: 12:32729256-32729256
GRCh38: 12:32576322-32576322
17 FGD4 NM_139241.3(FGD4):c.1198C>G (p.Leu400Val) SNV Uncertain significance 308296 rs750265200 GRCh37: 12:32764077-32764077
GRCh38: 12:32611143-32611143
18 FGD4 NM_139241.3(FGD4):c.1366C>A (p.Pro456Thr) SNV Uncertain significance 188187 rs138160928 GRCh37: 12:32772659-32772659
GRCh38: 12:32619725-32619725
19 FGD4 NM_139241.3(FGD4):c.852A>G (p.Arg284=) SNV Uncertain significance 308290 rs773609461 GRCh37: 12:32755110-32755110
GRCh38: 12:32602176-32602176
20 FGD4 NM_139241.3(FGD4):c.-246+9C>T SNV Uncertain significance 308282 rs531501340 GRCh37: 12:32655281-32655281
GRCh38: 12:32502347-32502347
21 FGD4 NM_139241.3(FGD4):c.1761+12T>G SNV Uncertain significance 883730 GRCh37: 12:32778725-32778725
GRCh38: 12:32625791-32625791
22 FGD4 NM_139241.3(FGD4):c.1525_1527del (p.Lys509del) Deletion Uncertain significance 816535 rs1565920164 GRCh37: 12:32777369-32777371
GRCh38: 12:32624435-32624437
23 FGD4 NM_139241.3(FGD4):c.894G>T (p.Met298Ile) SNV Uncertain significance 881345 GRCh37: 12:32755152-32755152
GRCh38: 12:32602218-32602218
24 FGD4 NM_139241.3(FGD4):c.569T>C (p.Leu190Pro) SNV Uncertain significance 308288 rs144980336 GRCh37: 12:32735370-32735370
GRCh38: 12:32582436-32582436
25 FGD4 NM_139241.3(FGD4):c.1814G>A (p.Gly605Asp) SNV Uncertain significance 308300 rs886049255 GRCh37: 12:32786535-32786535
GRCh38: 12:32633601-32633601
26 FGD4 NM_001304481.1(FGD4):c.112A>T (p.Ile38Leu) SNV Uncertain significance 308283 rs886049253 GRCh37: 12:32717172-32717172
GRCh38: 12:32564238-32564238
27 FGD4 NM_139241.3(FGD4):c.310G>A (p.Glu104Lys) SNV Uncertain significance 308285 rs752621629 GRCh37: 12:32735111-32735111
GRCh38: 12:32582177-32582177
28 FGD4 NM_139241.3(FGD4):c.956G>A (p.Arg319His) SNV Uncertain significance 587439 rs533939591 GRCh37: 12:32755214-32755214
GRCh38: 12:32602280-32602280
29 FGD4 NM_139241.3(FGD4):c.*3195T>G SNV Uncertain significance 883839 GRCh37: 12:32796662-32796662
GRCh38: 12:32643728-32643728
30 FGD4 NM_139241.3(FGD4):c.*3543G>C SNV Uncertain significance 883840 GRCh37: 12:32797010-32797010
GRCh38: 12:32644076-32644076
31 FGD4 NM_139241.3(FGD4):c.*4832G>A SNV Uncertain significance 883912 GRCh37: 12:32798299-32798299
GRCh38: 12:32645365-32645365
32 FGD4 NM_139241.3(FGD4):c.*3438C>T SNV Uncertain significance 308347 rs886049269 GRCh37: 12:32796905-32796905
GRCh38: 12:32643971-32643971
33 FGD4 NM_139241.3(FGD4):c.*5020G>C SNV Uncertain significance 308373 rs886049277 GRCh37: 12:32798487-32798487
GRCh38: 12:32645553-32645553
34 FGD4 NM_139241.3(FGD4):c.*3937A>G SNV Uncertain significance 880548 GRCh37: 12:32797404-32797404
GRCh38: 12:32644470-32644470
35 FGD4 NM_139241.3(FGD4):c.*3940G>A SNV Uncertain significance 880549 GRCh37: 12:32797407-32797407
GRCh38: 12:32644473-32644473
36 FGD4 NM_139241.3(FGD4):c.*3994A>G SNV Uncertain significance 880550 GRCh37: 12:32797461-32797461
GRCh38: 12:32644527-32644527
37 FGD4 NM_139241.3(FGD4):c.*368T>C SNV Uncertain significance 881396 GRCh37: 12:32793835-32793835
GRCh38: 12:32640901-32640901
38 FGD4 NM_139241.3(FGD4):c.*712C>T SNV Uncertain significance 881397 GRCh37: 12:32794179-32794179
GRCh38: 12:32641245-32641245
39 FGD4 NM_139241.3(FGD4):c.*2096T>A SNV Uncertain significance 881453 GRCh37: 12:32795563-32795563
GRCh38: 12:32642629-32642629
40 FGD4 NM_139241.3(FGD4):c.*2192G>A SNV Uncertain significance 881454 GRCh37: 12:32795659-32795659
GRCh38: 12:32642725-32642725
41 FGD4 NM_139241.3(FGD4):c.1191+6T>C SNV Uncertain significance 881788 GRCh37: 12:32763774-32763774
GRCh38: 12:32610840-32610840
42 FGD4 NM_139241.3(FGD4):c.*2264G>A SNV Uncertain significance 881889 GRCh37: 12:32795731-32795731
GRCh38: 12:32642797-32642797
43 FGD4 NM_139241.3(FGD4):c.*2309G>A SNV Uncertain significance 881890 GRCh37: 12:32795776-32795776
GRCh38: 12:32642842-32642842
44 FGD4 NM_139241.3(FGD4):c.*2487C>A SNV Uncertain significance 881891 GRCh37: 12:32795954-32795954
GRCh38: 12:32643020-32643020
45 FGD4 NM_139241.3(FGD4):c.*4317T>G SNV Uncertain significance 881972 GRCh37: 12:32797784-32797784
GRCh38: 12:32644850-32644850
46 FGD4 NM_139241.3(FGD4):c.*5265A>G SNV Uncertain significance 882043 GRCh37: 12:32798732-32798732
GRCh38: 12:32645798-32645798
47 FGD4 NM_139241.3(FGD4):c.*5321G>A SNV Uncertain significance 882044 GRCh37: 12:32798788-32798788
GRCh38: 12:32645854-32645854
48 FGD4 NM_139241.3(FGD4):c.*5389A>G SNV Uncertain significance 882045 GRCh37: 12:32798856-32798856
GRCh38: 12:32645922-32645922
49 FGD4 NM_139241.3(FGD4):c.1569T>C (p.Phe523=) SNV Uncertain significance 882939 GRCh37: 12:32777936-32777936
GRCh38: 12:32625002-32625002
50 FGD4 NM_139241.3(FGD4):c.*1259A>G SNV Uncertain significance 882991 GRCh37: 12:32794726-32794726
GRCh38: 12:32641792-32641792

UniProtKB/Swiss-Prot genetic disease variations for Charcot-Marie-Tooth Disease, Type 4h:

72
# Symbol AA change Variation ID SNP ID
1 FGD4 p.Met298Arg VAR_034957 rs63749871
2 FGD4 p.Met298Thr VAR_044321 rs63749871

Expression for Charcot-Marie-Tooth Disease, Type 4h

Search GEO for disease gene expression data for Charcot-Marie-Tooth Disease, Type 4h.

Pathways for Charcot-Marie-Tooth Disease, Type 4h

Pathways related to Charcot-Marie-Tooth Disease, Type 4h according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.59 MCF2 FGD4 FGD3 FGD1 CDC42 ARHGEF10
2 12.24 PIKFYVE FGD3 FGD1 CDC42
3
Show member pathways
12.19 MCF2 FGD4 FGD3 FGD1 CDC42 ARHGEF10
4
Show member pathways
11.84 PIKFYVE MTMR2 FIG4
5 11.57 GDAP1 CDC42 ARHGEF10
6 10.81 MCF2 FGD1 CDC42
7 10.43 MCF2 FGD4 FGD1 CDC42

GO Terms for Charcot-Marie-Tooth Disease, Type 4h

Cellular components related to Charcot-Marie-Tooth Disease, Type 4h according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoskeleton GO:0005856 9.73 RABGAP1 MCF2 FGD4 FGD3 FGD1 CDC42
2 lamellipodium GO:0030027 9.58 FGD4 FGD3 FGD1
3 early endosome membrane GO:0031901 9.5 PIKFYVE MTMR2 FIG4
4 cytosol GO:0005829 9.4 SBF2 SBF1 RABGAP1 PIKFYVE MTMR2 MCF2
5 vacuolar membrane GO:0005774 9.37 SBF2 MTMR2
6 ruffle GO:0001726 9.33 FGD4 FGD3 FGD1
7 endosome membrane GO:0010008 9.26 SBF2 PIKFYVE MTMR2 FIG4

Biological processes related to Charcot-Marie-Tooth Disease, Type 4h according to GeneCards Suite gene sharing:

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of apoptotic process GO:0043065 9.83 MCF2 FGD4 FGD3 FGD1
2 regulation of catalytic activity GO:0050790 9.83 MCF2 FGD4 FGD3 FGD1 ARHGEF10
3 cytoskeleton organization GO:0007010 9.72 FGD4 FGD3 FGD1
4 actin cytoskeleton organization GO:0030036 9.72 FGD4 FGD3 FGD1 CDC42 ARHGEF10
5 regulation of cell shape GO:0008360 9.71 FGD4 FGD3 FGD1
6 phosphatidylinositol biosynthetic process GO:0006661 9.67 SBF1 PIKFYVE MTMR2 FIG4
7 regulation of small GTPase mediated signal transduction GO:0051056 9.65 MCF2 FGD4 FGD3 FGD1 CDC42
8 phosphatidylinositol metabolic process GO:0046488 9.58 PIKFYVE MTMR2 FIG4
9 phosphatidylinositol dephosphorylation GO:0046856 9.56 MTMR2 FIG4
10 myelination in peripheral nervous system GO:0022011 9.51 SH3TC2 ARHGEF10
11 phosphatidylinositol-3-phosphate biosynthetic process GO:0036092 9.49 PIKFYVE FIG4
12 negative regulation of myelination GO:0031642 9.48 MTMR2 FIG4
13 peripheral nervous system myelin maintenance GO:0032287 9.46 SH3TC2 PRX
14 myelin assembly GO:0032288 9.33 PIKFYVE MTMR2 FIG4
15 filopodium assembly GO:0046847 9.26 FGD4 FGD3 FGD1 CDC42
16 regulation of GTPase activity GO:0043087 9.1 SBF2 SBF1 RABGAP1 FGD4 FGD3 FGD1

Molecular functions related to Charcot-Marie-Tooth Disease, Type 4h according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 small GTPase binding GO:0031267 9.56 RABGAP1 FGD4 FGD3 FGD1
2 phosphatidylinositol-3-phosphatase activity GO:0004438 9.32 MTMR2 FIG4
3 guanyl-nucleotide exchange factor activity GO:0005085 9.17 SBF2 SBF1 MCF2 FGD4 FGD3 FGD1
4 phosphatase regulator activity GO:0019208 9.16 SBF2 SBF1
5 phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity GO:0043813 8.96 PIKFYVE FIG4

Sources for Charcot-Marie-Tooth Disease, Type 4h

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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