CMT4B3
MCID: CHR504
MIFTS: 46

Charcot-Marie-Tooth Disease, Type 4b3 (CMT4B3)

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 4b3

MalaCards integrated aliases for Charcot-Marie-Tooth Disease, Type 4b3:

Name: Charcot-Marie-Tooth Disease, Type 4b3 57 29 6 39 70
Cmt4b3 57 12 58 72
Charcot-Marie-Tooth Disease Type 4b3 12 58 15
Charcot-Marie-Tooth Disease with Focally Folded Myelin 58
Charcot-Marie-Tooth Neuropathy Type 4b3 72
Charcot-Marie-Tooth Disease 4b3 72

Characteristics:

Orphanet epidemiological data:

58
charcot-marie-tooth disease type 4b3
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM®:

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

Miscellaneous:
progressive disorder
two families have been reported (last curated december 2014)
onset between 5 and 20 years
patients may become wheelchair-bound as adults
one consanguineous saudi family had additional features of microcephaly, mental retardation, ophthalmoplegia, and syndactyly


HPO:

31
charcot-marie-tooth disease, type 4b3:
Inheritance autosomal recessive inheritance
Onset and clinical course progressive


Classifications:

Orphanet: 58  
Rare neurological diseases


Summaries for Charcot-Marie-Tooth Disease, Type 4b3

UniProtKB/Swiss-Prot : 72 Charcot-Marie-Tooth disease 4B3: 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 4b3, also known as cmt4b3, is related to charcot-marie-tooth disease, demyelinating, type 1b and charcot-marie-tooth disease, demyelinating, type 1a. An important gene associated with Charcot-Marie-Tooth Disease, Type 4b3 is SBF1 (SET Binding Factor 1), and among its related pathways/superpathways are Glycerophospholipid biosynthesis and superpathway of inositol phosphate compounds. Affiliated tissues include eye and brain, and related phenotypes are intellectual disability and strabismus

Disease Ontology : 12 A Charcot-Marie-Tooth disease type 4 that has material basis in homozygous or compound heterozygous mutation in the SBF1 gene on chromosome 22q.

More information from OMIM: 615284 PS118220

Related Diseases for Charcot-Marie-Tooth Disease, Type 4b3

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 4b3 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 73)
# Related Disease Score Top Affiliating Genes
1 charcot-marie-tooth disease, demyelinating, type 1b 31.6 SH3TC2 SBF2 PMP22 MTMR2 MPZ GDAP1
2 charcot-marie-tooth disease, demyelinating, type 1a 31.6 SH3TC2 SBF2 PMP22 MTMR2 MPZ GDAP1
3 sensory peripheral neuropathy 29.8 PMP22 MTMR2 MTM1 MPZ GDAP1
4 neuropathy, congenital hypomyelinating, 1, autosomal recessive 29.3 SH3TC2 SBF2 SBF1 PRPS1 PMP22 PIKFYVE
5 charcot-marie-tooth disease, type 4b2 29.2 SH3TC2 SBF2 SBF1 PIKFYVE MTMR2 MTM1
6 charcot-marie-tooth disease, type 4b1 29.2 SH3TC2 SBF2 SBF1 PIKFYVE MTMR2 MTM1
7 tooth disease 28.6 SH3TC2 SBF2 SBF1 PRPS1 PMP22 MTMR2
8 charcot-marie-tooth disease 28.3 SH3TC2 SBF2 SBF1 PRPS1 PMP22 PIKFYVE
9 demyelinating hereditary motor and sensory neuropathy 10.5
10 neuropathy, hereditary motor and sensory, russe type 10.2 SH3TC2 GDAP1
11 charcot-marie-tooth disease, axonal, type 2t 10.2 SH3TC2 GDAP1
12 sciatic neuropathy 10.1 SH3TC2 PMP22
13 mononeuritis of lower limb 10.1 SH3TC2 PMP22
14 lesion of sciatic nerve 10.1 SH3TC2 PMP22
15 pupil disease 10.1 MPZ GDAP1
16 argyll robertson pupil 10.1 MPZ GDAP1
17 abnormal pupillary function 10.1 MPZ GDAP1
18 genetic motor neuron disease 10.1 SH3TC2 MPZ
19 charcot-marie-tooth disease, dominant intermediate a 10.1 MPZ GDAP1
20 charcot-marie-tooth disease, axonal, type 2w 10.1 MPZ GDAP1
21 charcot-marie-tooth disease, axonal, type 2a1 10.0 MPZ GDAP1
22 charcot-marie-tooth disease, dominant intermediate d 10.0 SH3TC2 MPZ
23 charcot-marie-tooth disease, axonal, type 2l 10.0 MPZ GDAP1
24 charcot-marie-tooth disease, dominant intermediate c 10.0 MPZ GDAP1
25 cortical dysplasia, complex, with other brain malformations 6 10.0 PMP22 GDAP1
26 charcot-marie-tooth disease, axonal, type 2f 10.0 MPZ GDAP1
27 foot drop 9.9 PMP22 MPZ
28 early-onset glaucoma 9.9 SBF2 SBF1 MTMR2 MTM1
29 charcot-marie-tooth disease, axonal, type 2b2 9.9 MPZ GDAP1
30 charcot-marie-tooth disease, axonal, type 2i 9.9 SH3TC2 MPZ GDAP1
31 hereditary motor and sensory neuropathy, type iic 9.9 SH3TC2 MPZ GDAP1
32 amyotrophic neuralgia 9.9 PMP22 MPZ
33 roussy-levy hereditary areflexic dystasia 9.9 PMP22 MPZ
34 brachial plexus neuropathy 9.9 PMP22 MPZ
35 corneal dystrophy, fleck 9.9 SBF2 PIKFYVE MTMR2 MTM1
36 hereditary neuropathies 9.8 PMP22 MTMR2 MPZ
37 mononeuropathy 9.8 SH3TC2 PMP22 MPZ
38 nerve compression syndrome 9.8 SH3TC2 PMP22 MPZ
39 carpal tunnel syndrome 9.8 SH3TC2 PMP22 MPZ
40 peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung disease 9.8 PMP22 MPZ
41 charcot-marie-tooth disease, x-linked recessive, 2 9.8 PRPS1 MPZ
42 polyradiculoneuropathy 9.7 PMP22 MPZ
43 yunis-varon syndrome 9.7 SBF2 PIKFYVE MTMR2 INPP5B GDAP1
44 charcot-marie-tooth disease, demyelinating, type 1f 9.7 SBF2 SBF1 MTMR2 MPZ GDAP1
45 chronic inflammatory demyelinating polyradiculoneuropathy 9.7 PMP22 MPZ
46 charcot-marie-tooth disease, dominant intermediate e 9.7 SH3TC2 SBF2 MTMR2 MPZ GDAP1
47 charcot-marie-tooth disease, demyelinating, type 1d 9.7 PMP22 MTMR2 MPZ GDAP1
48 charcot-marie-tooth disease, axonal, type 2j 9.7 SH3TC2 SBF2 MTMR2 MPZ GDAP1
49 charcot-marie-tooth disease x-linked recessive 4 9.7 PRPS1 MPZ
50 charcot-marie-tooth disease intermediate type 9.7 SH3TC2 SBF2 MTMR2 MPZ GDAP1

Graphical network of the top 20 diseases related to Charcot-Marie-Tooth Disease, Type 4b3:



Diseases related to Charcot-Marie-Tooth Disease, Type 4b3

Symptoms & Phenotypes for Charcot-Marie-Tooth Disease, Type 4b3

Human phenotypes related to Charcot-Marie-Tooth Disease, Type 4b3:

31 (show all 15)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 occasional (7.5%) HP:0001249
2 strabismus 31 occasional (7.5%) HP:0000486
3 ophthalmoplegia 31 occasional (7.5%) HP:0000602
4 brain atrophy 31 occasional (7.5%) HP:0012444
5 urinary incontinence 31 occasional (7.5%) HP:0000020
6 syndactyly 31 occasional (7.5%) HP:0001159
7 scoliosis 31 HP:0002650
8 gait disturbance 31 HP:0001288
9 pes planus 31 HP:0001763
10 microcephaly 31 HP:0000252
11 decreased nerve conduction velocity 31 HP:0000762
12 areflexia 31 HP:0001284
13 limb muscle weakness 31 HP:0003690
14 distal sensory impairment 31 HP:0002936
15 onion bulb formation 31 HP:0003383

Symptoms via clinical synopsis from OMIM®:

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

Neurologic Central Nervous System:
mental retardation (1 family)
brain atrophy (1 family)

Muscle Soft Tissue:
fiber-type grouping
distal limb muscle atrophy, lower more than upper
distal limb muscle weakness, lower more than upper
proximal muscles may be mildly affected
muscle biopsy shows neurogenic angulated fibers

Head And Neck Eyes:
strabismus (1 family)
ophthalmoplegia (1 family)

Skeletal Hands:
syndactyly (1 family)

Neurologic Peripheral Nervous System:
areflexia
distal sensory impairment
gait abnormalities
decreased nerve conduction velocities
sural nerve biopsy shows loss of large myelinated fibers
more
Skeletal Feet:
pes planus (1 family)
syndactyly (1 family)

Head And Neck Head:
microcephaly (1 family)

Genitourinary Bladder:
urinary incontinence (1 family)

Clinical features from OMIM®:

615284 (Updated 20-May-2021)

GenomeRNAi Phenotypes related to Charcot-Marie-Tooth Disease, Type 4b3 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased Akt phosphorylation after EGF stimulation GR00204-A-2 8.62 MTMR2 MTMR3

MGI Mouse Phenotypes related to Charcot-Marie-Tooth Disease, Type 4b3:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.06 GDAP1 MADD MPZ MTM1 MTMR2 MTMR3
2 homeostasis/metabolism MP:0005376 10 GDAP1 INPP5B MADD MPZ MTM1 MTMR3
3 mortality/aging MP:0010768 9.9 INPP5B MADD MPZ MTM1 MTMR2 PIKFYVE
4 nervous system MP:0003631 9.61 GDAP1 MADD MPZ MTMR2 PIKFYVE PIP5K1C
5 reproductive system MP:0005389 9.23 GDAP1 INPP5B MPZ MTM1 MTMR2 PMP22

Drugs & Therapeutics for Charcot-Marie-Tooth Disease, Type 4b3

Search Clinical Trials , NIH Clinical Center for Charcot-Marie-Tooth Disease, Type 4b3

Genetic Tests for Charcot-Marie-Tooth Disease, Type 4b3

Genetic tests related to Charcot-Marie-Tooth Disease, Type 4b3:

# Genetic test Affiliating Genes
1 Charcot-Marie-Tooth Disease, Type 4b3 29 SBF1

Anatomical Context for Charcot-Marie-Tooth Disease, Type 4b3

MalaCards organs/tissues related to Charcot-Marie-Tooth Disease, Type 4b3:

40
Eye, Brain

Publications for Charcot-Marie-Tooth Disease, Type 4b3

Articles related to Charcot-Marie-Tooth Disease, Type 4b3:

# Title Authors PMID Year
1
SET binding factor 1 (SBF1) mutation causes Charcot-Marie-tooth disease type 4B3. 6 57 61
24799518 2014
2
SET binding factor 1 (SBF1) mutation causes Charcot-Marie-Tooth disease type 4B3. 61 6 57
23749797 2013
3
A novel syndromic form of sensory-motor polyneuropathy is linked to chromosome 22q13.31-q13.33. 57 6
21210780 2011
4
A multicenter retrospective study of charcot-marie-tooth disease type 4B (CMT4B) associated with mutations in myotubularin-related proteins (MTMRs). 61
31070812 2019
5
SBF1 mutations associated with autosomal recessive axonal neuropathy with cranial nerve involvement. 61
28005197 2017
6
"Fork and bracket" syndrome expands the spectrum of SBF1-related sensory motor polyneuropathies. 61
27123480 2016
7
Charcot-Marie-Tooth Neuropathy Type 4 – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY 61
20301641 1998

Variations for Charcot-Marie-Tooth Disease, Type 4b3

ClinVar genetic disease variations for Charcot-Marie-Tooth Disease, Type 4b3:

6 (show top 50) (show all 56)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SBF1 NM_002972.4(SBF1):c.1249A>G (p.Met417Val) SNV Pathogenic 51005 rs587776986 GRCh37: 22:50903513-50903513
GRCh38: 22:50465084-50465084
2 SBF1 NM_002972.4(SBF1):c.4768A>G (p.Thr1590Ala) SNV Pathogenic 51006 rs200488568 GRCh37: 22:50893287-50893287
GRCh38: 22:50454858-50454858
3 SBF1 NM_002972.4(SBF1):c.3880_3887dup (p.Arg1297fs) Duplication Pathogenic 1030609 GRCh37: 22:50895479-50895480
GRCh38: 22:50457050-50457051
4 SBF1 NM_002972.4(SBF1):c.1327G>A (p.Asp443Asn) SNV Pathogenic 162096 rs690016543 GRCh37: 22:50903435-50903435
GRCh38: 22:50465006-50465006
5 SBF1 NM_002972.4(SBF1):c.161G>A (p.Trp54Ter) SNV Likely pathogenic 1030606 GRCh37: 22:50906333-50906333
GRCh38: 22:50467904-50467904
6 SBF1 NM_002972.4(SBF1):c.4378T>G (p.Leu1460Val) SNV Likely pathogenic 522645 rs1404020990 GRCh37: 22:50893829-50893829
GRCh38: 22:50455400-50455400
7 SBF1 NM_002972.4(SBF1):c.3826+1G>A SNV Likely pathogenic 807487 rs1009209509 GRCh37: 22:50897683-50897683
GRCh38: 22:50459254-50459254
8 SBF1 NM_002972.4(SBF1):c.3251C>T (p.Pro1084Leu) SNV Uncertain significance 995708 GRCh37: 22:50898733-50898733
GRCh38: 22:50460304-50460304
9 SBF1 NM_002972.4(SBF1):c.1448C>G (p.Ala483Gly) SNV Uncertain significance 522873 rs1556430522 GRCh37: 22:50903151-50903151
GRCh38: 22:50464722-50464722
10 SBF1 NM_002972.4(SBF1):c.2663G>A (p.Arg888His) SNV Uncertain significance 994338 GRCh37: 22:50900128-50900128
GRCh38: 22:50461699-50461699
11 SBF1 NM_002972.4(SBF1):c.55G>C (p.Gly19Arg) SNV Uncertain significance 994425 GRCh37: 22:50913215-50913215
GRCh38: 22:50474786-50474786
12 SBF1 NM_002972.4(SBF1):c.2393A>G (p.Asn798Ser) SNV Uncertain significance 709964 rs199705951 GRCh37: 22:50900637-50900637
GRCh38: 22:50462208-50462208
13 SBF1 NM_002972.4(SBF1):c.4517C>T (p.Thr1506Ile) SNV Uncertain significance 994190 GRCh37: 22:50893690-50893690
GRCh38: 22:50455261-50455261
14 SBF1 NM_002972.4(SBF1):c.1918G>C (p.Glu640Gln) SNV Uncertain significance 638527 rs199783239 GRCh37: 22:50901349-50901349
GRCh38: 22:50462920-50462920
15 SBF1 NM_002972.4(SBF1):c.2255C>T (p.Thr752Met) SNV Uncertain significance 729707 rs188976869 GRCh37: 22:50900775-50900775
GRCh38: 22:50462346-50462346
16 SBF1 NM_002972.4(SBF1):c.1069A>G (p.Thr357Ala) SNV Uncertain significance 811309 rs746439204 GRCh37: 22:50904212-50904212
GRCh38: 22:50465783-50465783
17 SBF1 NM_002972.4(SBF1):c.5507C>G (p.Ala1836Gly) SNV Uncertain significance 811310 rs373534319 GRCh37: 22:50885827-50885827
GRCh38: 22:50447398-50447398
18 SBF1 NM_002972.4(SBF1):c.2785G>A (p.Val929Ile) SNV Uncertain significance 729706 rs370463792 GRCh37: 22:50900006-50900006
GRCh38: 22:50461577-50461577
19 SBF1 NM_002972.4(SBF1):c.4639C>T (p.Arg1547Trp) SNV Uncertain significance 811714 rs370182117 GRCh37: 22:50893487-50893487
GRCh38: 22:50455058-50455058
20 SBF1 NM_002972.4(SBF1):c.3940A>G (p.Ser1314Gly) SNV Uncertain significance 730967 rs200718883 GRCh37: 22:50895067-50895067
GRCh38: 22:50456638-50456638
21 SBF1 NM_002972.4(SBF1):c.3157C>T (p.Arg1053Trp) SNV Uncertain significance 440252 rs202156491 GRCh37: 22:50898827-50898827
GRCh38: 22:50460398-50460398
22 SBF1 NM_002972.4(SBF1):c.1696G>T (p.Val566Leu) SNV Uncertain significance 1030607 GRCh37: 22:50902811-50902811
GRCh38: 22:50464382-50464382
23 SBF1 NM_002972.4(SBF1):c.2938G>A (p.Gly980Arg) SNV Uncertain significance 1030608 GRCh37: 22:50899617-50899617
GRCh38: 22:50461188-50461188
24 SBF1 NM_002972.4(SBF1):c.2605G>A (p.Val869Met) SNV Uncertain significance 374671 rs200365973 GRCh37: 22:50900263-50900263
GRCh38: 22:50461834-50461834
25 SBF1 NM_002972.4(SBF1):c.5471G>A (p.Arg1824His) SNV Uncertain significance 623999 rs202149945 GRCh37: 22:50885863-50885863
GRCh38: 22:50447434-50447434
26 SBF1 NM_002972.4(SBF1):c.4965G>C (p.Gln1655His) SNV Uncertain significance 618865 rs147869659 GRCh37: 22:50893019-50893019
GRCh38: 22:50454590-50454590
27 SBF1 NM_002972.4(SBF1):c.2763A>G (p.Ala921=) SNV Uncertain significance 1033556 GRCh37: 22:50900028-50900028
GRCh38: 22:50461599-50461599
28 SBF1 NM_002972.4(SBF1):c.4834G>A (p.Val1612Met) SNV Uncertain significance 1033958 GRCh37: 22:50893150-50893150
GRCh38: 22:50454721-50454721
29 SBF1 NM_002972.4(SBF1):c.898-4G>A SNV Likely benign 374672 rs377428323 GRCh37: 22:50904507-50904507
GRCh38: 22:50466078-50466078
30 SBF1 NM_002972.4(SBF1):c.3765C>T (p.Tyr1255=) SNV Likely benign 374475 rs201985055 GRCh37: 22:50897745-50897745
GRCh38: 22:50459316-50459316
31 SBF1 NM_002972.4(SBF1):c.2569+4C>T SNV Likely benign 624001 rs200379541 GRCh37: 22:50900372-50900372
GRCh38: 22:50461943-50461943
32 SBF1 NM_002972.4(SBF1):c.3905-9C>T SNV Likely benign 811448 rs574807761 GRCh37: 22:50895111-50895111
GRCh38: 22:50456682-50456682
33 SBF1 NM_002972.4(SBF1):c.5022C>T (p.Asp1674=) SNV Likely benign 811243 rs570393243 GRCh37: 22:50892962-50892962
GRCh38: 22:50454533-50454533
34 SBF1 NM_002972.4(SBF1):c.219C>T (p.Ile73=) SNV Likely benign 811301 rs750211528 GRCh37: 22:50906275-50906275
GRCh38: 22:50467846-50467846
35 SBF1 NM_002972.4(SBF1):c.5595G>A (p.Thr1865=) SNV Likely benign 994230 GRCh37: 22:50885658-50885658
GRCh38: 22:50447229-50447229
36 SBF1 NM_002972.4(SBF1):c.3399C>T (p.Leu1133=) SNV Likely benign 993402 GRCh37: 22:50898473-50898473
GRCh38: 22:50460044-50460044
37 SBF1 NM_002972.4(SBF1):c.651G>A (p.Gln217=) SNV Likely benign 993797 GRCh37: 22:50905038-50905038
GRCh38: 22:50466609-50466609
38 SBF1 NM_002972.4(SBF1):c.3666G>A (p.Lys1222=) SNV Likely benign 741201 rs373529561 GRCh37: 22:50897921-50897921
GRCh38: 22:50459492-50459492
39 SBF1 NM_002972.4(SBF1):c.4521C>T (p.Pro1507=) SNV Likely benign 618358 rs534889802 GRCh37: 22:50893686-50893686
GRCh38: 22:50455257-50455257
40 SBF1 NM_002972.4(SBF1):c.3462G>T (p.Pro1154=) SNV Likely benign 995599 GRCh37: 22:50898410-50898410
GRCh38: 22:50459981-50459981
41 SBF1 NM_002972.4(SBF1):c.898-18G>A SNV Likely benign 995678 GRCh37: 22:50904521-50904521
GRCh38: 22:50466092-50466092
42 SBF1 NM_002972.4(SBF1):c.296A>C (p.Glu99Ala) SNV Benign 790784 rs148021361 GRCh37: 22:50906103-50906103
GRCh38: 22:50467674-50467674
43 SBF1 NM_002972.4(SBF1):c.55+9C>T SNV Benign 995623 GRCh37: 22:50913206-50913206
GRCh38: 22:50474777-50474777
44 SBF1 NM_002972.4(SBF1):c.5539A>G (p.Thr1847Ala) SNV Benign 780663 rs192771726 GRCh37: 22:50885795-50885795
GRCh38: 22:50447366-50447366
45 SBF1 NM_002972.4(SBF1):c.4833C>T (p.Asn1611=) SNV Benign 718659 rs199573140 GRCh37: 22:50893151-50893151
GRCh38: 22:50454722-50454722
46 SBF1 NM_002972.4(SBF1):c.1570A>T (p.Met524Leu) SNV Benign 710169 rs149528827 GRCh37: 22:50903029-50903029
GRCh38: 22:50464600-50464600
47 SBF1 NM_002972.4(SBF1):c.3827-4T>C SNV Benign 784427 rs114603288 GRCh37: 22:50895544-50895544
GRCh38: 22:50457115-50457115
48 SBF1 NM_002972.4(SBF1):c.1947T>A (p.Pro649=) SNV Benign 770822 rs180800708 GRCh37: 22:50901320-50901320
GRCh38: 22:50462891-50462891
49 SBF1 NM_002972.4(SBF1):c.4813-18C>T SNV Benign 811026 rs41281541 GRCh37: 22:50893189-50893189
GRCh38: 22:50454760-50454760
50 SBF1 NM_002972.4(SBF1):c.3904+5C>G SNV Benign 440250 rs115032856 GRCh37: 22:50895458-50895458
GRCh38: 22:50457029-50457029

UniProtKB/Swiss-Prot genetic disease variations for Charcot-Marie-Tooth Disease, Type 4b3:

72
# Symbol AA change Variation ID SNP ID
1 SBF1 p.Met418Val VAR_070046 rs587776986
2 SBF1 p.Thr1565Ala VAR_070047 rs200488568

Expression for Charcot-Marie-Tooth Disease, Type 4b3

Search GEO for disease gene expression data for Charcot-Marie-Tooth Disease, Type 4b3.

Pathways for Charcot-Marie-Tooth Disease, Type 4b3

Pathways related to Charcot-Marie-Tooth Disease, Type 4b3 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.29 PIP5K1C PIKFYVE MTMR3 MTMR2 MTM1
2
Show member pathways
11.67 PIP5K1C PIKFYVE MTMR3 MTMR2 MTM1 INPP5B
3
Show member pathways
11.62 PIP5K1C PIKFYVE MTMR3 MTMR2 MTM1
4 11.39 SBF2 SBF1 MADD
5 10.62 MTMR3 INPP5B

GO Terms for Charcot-Marie-Tooth Disease, Type 4b3

Cellular components related to Charcot-Marie-Tooth Disease, Type 4b3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.03 SBF2 SBF1 PMP22 PIP5K1C PIKFYVE MTMR3
2 endosome GO:0005768 9.55 SBF2 PIKFYVE MTMR2 MTM1 INPP5B
3 early endosome membrane GO:0031901 9.5 PIKFYVE MTMR2 INPP5B
4 vacuolar membrane GO:0005774 9.37 SBF2 MTMR2
5 cytosol GO:0005829 9.36 SBF2 SBF1 PRPS1 PIP5K1C PIKFYVE MTMR3
6 endosome membrane GO:0010008 9.26 SBF2 PIP5K1C PIKFYVE MTMR2

Biological processes related to Charcot-Marie-Tooth Disease, Type 4b3 according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 dephosphorylation GO:0016311 9.67 MTMR3 MTMR2 MTM1
2 protein dephosphorylation GO:0006470 9.67 SBF1 MTMR3 MTMR2 MTM1
3 peptidyl-tyrosine dephosphorylation GO:0035335 9.61 MTMR3 MTMR2 MTM1
4 inositol phosphate dephosphorylation GO:0046855 9.48 MTMR2 INPP5B
5 regulation of autophagosome assembly GO:2000785 9.46 PIKFYVE MTMR3
6 phosphatidylinositol metabolic process GO:0046488 9.43 PIP5K1C PIKFYVE MTMR2
7 regulation of phosphatidylinositol dephosphorylation GO:0060304 9.4 MTMR3 MTMR2
8 myelin assembly GO:0032288 9.33 PMP22 PIKFYVE MTMR2
9 phosphatidylinositol 5-phosphate metabolic process GO:1904562 9.32 PIKFYVE MTMR3
10 phosphatidylinositol dephosphorylation GO:0046856 9.26 MTMR3 MTMR2 MTM1 INPP5B
11 phosphatidylinositol biosynthetic process GO:0006661 9.1 SBF1 PIP5K1C PIKFYVE MTMR3 MTMR2 MTM1

Molecular functions related to Charcot-Marie-Tooth Disease, Type 4b3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 guanyl-nucleotide exchange factor activity GO:0005085 9.61 SBF2 SBF1 MADD
2 phosphatase activity GO:0016791 9.58 SBF1 MTMR2 MTM1
3 protein tyrosine phosphatase activity GO:0004725 9.54 MTMR3 MTMR2 MTM1
4 phosphatidylinositol phosphate kinase activity GO:0016307 9.32 PIP5K1C PIKFYVE
5 phosphatase regulator activity GO:0019208 9.26 SBF2 SBF1
6 1-phosphatidylinositol-4-phosphate 5-kinase activity GO:0016308 9.16 PIP5K1C PIKFYVE
7 phosphatidylinositol-3-phosphatase activity GO:0004438 9.13 MTMR3 MTMR2 MTM1
8 phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity GO:0052629 8.8 MTMR3 MTMR2 MTM1

Sources for Charcot-Marie-Tooth Disease, Type 4b3

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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