CMT4B2
MCID: CHR519
MIFTS: 48

Charcot-Marie-Tooth Disease, Type 4b2 (CMT4B2)

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

Aliases & Classifications for Charcot-Marie-Tooth Disease, Type 4b2

MalaCards integrated aliases for Charcot-Marie-Tooth Disease, Type 4b2:

Name: Charcot-Marie-Tooth Disease, Type 4b2 56 29 13 6 39 71
Charcot-Marie-Tooth Disease Type 4b2 12 52 58 15
Cmt4b2 56 12 58 73
Charcot-Marie-Tooth Disease, with Focally Folded Myelin Sheaths, Autosomal Recessive, Type 4b2 56 52
Charcot-Marie-Tooth Neuropathy, Type 4b2 56 52
Charcot-Marie-Tooth Neuropathy Type 4b2 12 73
Autosomal Recessive Charcot-Marie-Tooth Disease with Focally Folded Myelin Sheaths Type 4b2 12
Charcot-Marie-Tooth Disease Autosomal Recessive with Focally Folded Myelin Sheaths 4b2 73
Charcot-Marie-Tooth Disease Demyelinating Autosomal Recessive 4b2 73
Charcot Marie Tooth Disease Type 4b2 52
Charcot-Marie-Tooth Disease 4b2 73
Cmt 4b2 52

Characteristics:

Orphanet epidemiological data:

58
charcot-marie-tooth disease type 4b2
Inheritance: Autosomal recessive; Age of onset: Childhood;

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
upper limb involvement usually occurs later
onset in first or second decade (range 4 to 13 years)
onset in feet and legs (peroneal distribution)
glaucoma may precede development of neuropathy
patients with glaucoma have nonsense or truncating sbf2 mutations
genetic heterogeneity (see cmt4b1, )


HPO:

31
charcot-marie-tooth disease, type 4b2:
Inheritance autosomal recessive inheritance heterogeneous
Onset and clinical course juvenile onset


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0110190
OMIM 56 604563
OMIM Phenotypic Series 56 PS118220
MeSH 43 D002607
ICD10 32 G60.0
MESH via Orphanet 44 C535421
ICD10 via Orphanet 33 G60.0
UMLS via Orphanet 72 C1858278
Orphanet 58 ORPHA99956
UMLS 71 C1858278

Summaries for Charcot-Marie-Tooth Disease, Type 4b2

UniProtKB/Swiss-Prot : 73 Charcot-Marie-Tooth disease 4B2: 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 4b2, also known as charcot-marie-tooth disease type 4b2, is related to early-onset glaucoma and neuropathy. An important gene associated with Charcot-Marie-Tooth Disease, Type 4b2 is SBF2 (SET Binding Factor 2), and among its related pathways/superpathways are Glycerophospholipid biosynthesis and Inositol phosphate metabolism (KEGG). Affiliated tissues include brain and spinal cord, and related phenotypes are sensorineural hearing impairment and talipes equinovarus

Disease Ontology : 12 A Charcot-Marie-Tooth disease type 4 that has material basis in mutation in the SBF2 gene.

NIH Rare Diseases : 52 Charcot-Marie-Tooth disease type 4B2 (CMT4B2) is a disorder that affects the peripheral nerves. Peripheral nerves connect the brain and spinal cord to muscles and to sensory cells that detect sensations such as touch, pain, heat, and sound. Damage to the peripheral nerves can result in loss of sensation and wasting (atrophy) of muscles in the feet, legs, and hands. CMT4B2 can also cause glaucoma (damage to the eye's optic nerve). There is currently no cure for CMT4B2, but physical therapy , occupational therapy, braces and other orthopedic devices, pain medication, and orthopedic surgery can help manage and improve symptoms. CMT4B2 is inherited in an autosomal recessive fashion. It is caused by mutations in the SBF1 gene .

OMIM : 56 Autosomal recessive Charcot-Marie-Tooth disease type 4B is a demyelinating hereditary motor and sensory neuropathy characterized by abnormal folding of myelin sheaths. CMT4B1 (601382) is a clinically similar disorder caused by mutation in the MTMR2 gene (603557) on 11q22. For a phenotypic description and a discussion of genetic heterogeneity of autosomal recessive demyelinating CMT, see CMT4A (214400). (604563)

Related Diseases for Charcot-Marie-Tooth Disease, Type 4b2

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 4b2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 72)
# Related Disease Score Top Affiliating Genes
1 early-onset glaucoma 30.6 SBF2 SBF1 MTMR2 MTM1 LOC101928008
2 neuropathy 28.6 SH3TC2 SBF2 PRX MTMR2 MPZ GJB1
3 sensory peripheral neuropathy 28.4 SH3TC2 SBF2 PRX MTMR2 MTM1 MPZ
4 tooth disease 27.9 SH3TC2 SBF2 SBF1 PRX MTMR2 MPZ
5 peripheral nervous system disease 27.5 SH3TC2 SBF2 PRX MTMR2 MTM1 MPZ
6 neuropathy, congenital hypomyelinating, 1, autosomal recessive 27.3 VAC14 SH3TC2 SBF2 SBF1 PRX PIKFYVE
7 charcot-marie-tooth disease, type 4b1 25.6 VAC14 SH3TC2 SBF2 SBF1 PRX PIKFYVE
8 charcot-marie-tooth disease 24.9 VAC14 SH3TC2 SBF2-AS1 SBF2 SBF1 PRX
9 argyll robertson pupil 10.2 MPZ GDAP1
10 autosomal recessive disease 10.2
11 pupil disease 10.2 MPZ GDAP1
12 abnormal pupillary function 10.2 MPZ GDAP1
13 genetic motor neuron disease 10.2 SH3TC2 MPZ
14 neuropathy, hereditary motor and sensory, russe type 10.2 SH3TC2 GDAP1
15 charcot-marie-tooth disease, axonal, type 2t 10.2 SH3TC2 SBF2 GDAP1
16 neuropathy, hereditary sensory and autonomic, type ic 10.2 SH3TC2 LITAF
17 charcot-marie-tooth disease, type 4k 10.2 SH3TC2 LITAF
18 charcot-marie-tooth disease, axonal, type 2a1 10.2 MPZ GDAP1
19 peliosis hepatis 10.2 MTM1 DNM2
20 charcot-marie-tooth disease, axonal, type 2l 10.1 MPZ GDAP1
21 charcot-marie-tooth disease, axonal, type 2p 10.1 LITAF GDAP1
22 autoimmune peripheral neuropathy 10.0 MPZ GJB1
23 central core myopathy 10.0 MTM1 DNM2
24 charcot-marie-tooth disease x-linked recessive 4 10.0 MPZ GJB1
25 autosomal dominant distal hereditary motor neuronopathy 9.9 SH3TC2 MPZ LITAF
26 charcot-marie-tooth disease, dominant intermediate d 9.9 SH3TC2 MPZ DNM2
27 charcot-marie-tooth disease, axonal, type 2b2 9.9 MPZ GDAP1 DNM2
28 mononeuropathy 9.9 SH3TC2 MPZ
29 charcot-marie-tooth disease, axonal, type 2w 9.9 MPZ GJB1 GDAP1
30 peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung disease 9.9 MPZ GJB1
31 motor peripheral neuropathy 9.8 SH3TC2 LITAF GJB1
32 neuropathy, hereditary sensory and autonomic, type iia 9.8 SH3TC2 LITAF GDAP1 FGD4
33 charcot-marie-tooth disease, x-linked recessive, 2 9.8 MPZ LITAF GJB1
34 nerve compression syndrome 9.8 SH3TC2 MPZ
35 spinal muscular atrophy 9.7 SH3TC2 PRX MTM1 LITAF
36 charcot-marie-tooth disease, axonal, type 2d 9.7 SH3TC2 MPZ GJB1 GDAP1
37 hereditary neuropathies 9.7 PRX MTMR2 MPZ GJB1
38 charcot-marie-tooth disease, axonal, type 2f 9.6 MPZ LITAF GJB1 GDAP1
39 corneal dystrophy, fleck 9.6 VAC14 SBF2 PIKFYVE MTMR2
40 charcot-marie-tooth disease, dominant intermediate c 9.6 MPZ GJB1 GDAP1 DNM2
41 charcot-marie-tooth disease, axonal, type 2j 9.5 SH3TC2 SBF2 PRX MTMR2 MPZ GDAP1
42 charcot-marie-tooth disease, axonal, type 2i 9.4 SH3TC2 PRX MPZ GJB1 GDAP1
43 charcot-marie-tooth disease, dominant intermediate e 9.4 SH3TC2 SBF2 MTMR2 MPZ GDAP1 DNM2
44 charcot-marie-tooth disease type x 9.4 SH3TC2 MPZ LITAF GJB1 GDAP1
45 hereditary motor and sensory neuropathy, type iic 9.3 SH3TC2 MPZ GJB1 GDAP1 DNM2
46 charcot-marie-tooth disease, dominant intermediate a 9.3 PRX MPZ GJB1 GDAP1 DNM2
47 charcot-marie-tooth disease, demyelinating, type 1d 9.2 PRX MTMR2 MPZ LITAF GJB1 GDAP1
48 yunis-varon syndrome 9.2 VAC14 SBF2 PIKFYVE MTMR2 GDAP1 FIG4
49 charcot-marie-tooth disease, demyelinating, type 1f 9.1 SBF2 SBF1 MTMR2 MPZ LITAF GJB1
50 polyneuropathy 9.1 SH3TC2 PRX MPZ LITAF GJB1 GDAP1

Graphical network of the top 20 diseases related to Charcot-Marie-Tooth Disease, Type 4b2:



Diseases related to Charcot-Marie-Tooth Disease, Type 4b2

Symptoms & Phenotypes for Charcot-Marie-Tooth Disease, Type 4b2

Human phenotypes related to Charcot-Marie-Tooth Disease, Type 4b2:

31 (show all 20)
# Description HPO Frequency HPO Source Accession
1 sensorineural hearing impairment 31 HP:0000407
2 talipes equinovarus 31 HP:0001762
3 kyphoscoliosis 31 HP:0002751
4 glaucoma 31 HP:0000501
5 areflexia 31 HP:0001284
6 split hand 31 HP:0001171
7 pes cavus 31 HP:0001761
8 hyporeflexia 31 HP:0001265
9 decreased motor nerve conduction velocity 31 HP:0003431
10 steppage gait 31 HP:0003376
11 distal amyotrophy 31 HP:0003693
12 hammertoe 31 HP:0001765
13 distal muscle weakness 31 HP:0002460
14 difficulty walking 31 HP:0002355
15 distal sensory impairment 31 HP:0002936
16 decreased number of peripheral myelinated nerve fibers 31 HP:0003380
17 foot dorsiflexor weakness 31 HP:0009027
18 segmental peripheral demyelination/remyelination 31 HP:0003481
19 onion bulb formation 31 HP:0003383
20 ulnar claw 31 HP:0001178

Symptoms via clinical synopsis from OMIM:

56
Neurologic Peripheral Nervous System:
areflexia
hyporeflexia
difficulty walking
distal limb muscle weakness due to peripheral neuropathy
distal limb muscle atrophy due to peripheral neuropathy
more
Skeletal Hands:
claw hand deformities (in severe cases)

Head And Neck Ears:
sensorineural hearing loss (described in 1 family)

Skeletal Feet:
pes cavus
foot deformities
hammertoes
talipes equinus

Skeletal Spine:
kyphoscoliosis may be present

Head And Neck Eyes:
glaucoma, open-angle, early-onset (occurs in patients with nonsense or truncating mutations in the sbf2 gene)

Clinical features from OMIM:

604563

MGI Mouse Phenotypes related to Charcot-Marie-Tooth Disease, Type 4b2:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.73 FGD4 FIG4 GDAP1 GJB1 MPZ MTM1
2 nervous system MP:0003631 9.44 DNM2 FGD4 FIG4 GDAP1 GJB1 LITAF

Drugs & Therapeutics for Charcot-Marie-Tooth Disease, Type 4b2

Search Clinical Trials , NIH Clinical Center for Charcot-Marie-Tooth Disease, Type 4b2

Genetic Tests for Charcot-Marie-Tooth Disease, Type 4b2

Genetic tests related to Charcot-Marie-Tooth Disease, Type 4b2:

# Genetic test Affiliating Genes
1 Charcot-Marie-Tooth Disease, Type 4b2 29 SBF2

Anatomical Context for Charcot-Marie-Tooth Disease, Type 4b2

MalaCards organs/tissues related to Charcot-Marie-Tooth Disease, Type 4b2:

40
Brain, Spinal Cord

Publications for Charcot-Marie-Tooth Disease, Type 4b2

Articles related to Charcot-Marie-Tooth Disease, Type 4b2:

(show all 26)
# Title Authors PMID Year
1
A new SBF2 mutation in a family with recessive demyelinating Charcot-Marie-Tooth (CMT4B2). 56 61 6
15477569 2004
2
Mutations in MTMR13, a new pseudophosphatase homologue of MTMR2 and Sbf1, in two families with an autosomal recessive demyelinating form of Charcot-Marie-Tooth disease associated with early-onset glaucoma. 56 61 6
12687498 2003
3
Mutation of the SBF2 gene, encoding a novel member of the myotubularin family, in Charcot-Marie-Tooth neuropathy type 4B2/11p15. 61 56 6
12554688 2003
4
SET binding factor 2 (SBF2) mutation causes CMT4B with juvenile onset glaucoma. 6 56
15304601 2004
5
Hereditary motor and sensory neuropathy with myelin folding and juvenile onset glaucoma. 56 6
10932274 2000
6
Genetic heterogeneity in autosomal recessive hereditary motor and sensory neuropathy with focally folded myelin sheaths (CMT4B). 6 56
9521281 1998
7
Loss of the inactive myotubularin-related phosphatase Mtmr13 leads to a Charcot-Marie-Tooth 4B2-like peripheral neuropathy in mice. 56 61
18349142 2008
8
Mtmr13/Sbf2-deficient mice: an animal model for CMT4B2. 61 56
17855448 2007
9
Charcot-Marie-Tooth Neuropathy Type 4 – ARCHIVED CHAPTER, FOR HISTORICAL REFERENCE ONLY 6 61
20301641 1998
10
Charcot-Marie-Tooth (CMT) Hereditary Neuropathy Overview 6
20301532 1998
11
A multicenter retrospective study of charcot-marie-tooth disease type 4B (CMT4B) associated with mutations in myotubularin-related proteins (MTMRs). 61
31070812 2019
12
Novel SBF2 mutations and clinical spectrum of Charcot-Marie-Tooth neuropathy type 4B2. 61
30028002 2018
13
An In Vitro Model of Charcot-Marie-Tooth Disease Type 4B2 Provides Insight Into the Roles of MTMR13 and MTMR2 in Schwann Cell Myelination. 61
30419760 2018
14
"Fork and bracket" syndrome expands the spectrum of SBF1-related sensory motor polyneuropathies. 61
27123480 2016
15
Sural nerve biopsy and functional studies support the pathogenic role of a novel MPZ mutation. 61
25388615 2015
16
Charcot-Marie-Tooth 4B2 caused by a novel mutation in the MTMR13/SBF2 gene in two related Portuguese families. 61
25873783 2014
17
Identification of a novel SBF2 frameshift mutation in charcot-marie-tooth disease type 4B2 using whole-exome sequencing. 61
25462154 2014
18
SET binding factor 1 (SBF1) mutation causes Charcot-Marie-Tooth disease type 4B3. 61
23749797 2013
19
The CMT4B disease-causing phosphatases Mtmr2 and Mtmr13 localize to the Schwann cell cytoplasm and endomembrane compartments, where they depend upon each other to achieve wild-type levels of protein expression. 61
23297362 2013
20
Genetic study of demyelinating form of autosomal-recessive Charcot-Marie-tooth diseases in a Turkish family. 61
19922348 2009
21
[Hereditary neuropathy: recent advance]. 61
19198150 2008
22
Charcot-Marie-Tooth type 4B demyelinating neuropathy: deciphering the role of MTMR phosphatases. 61
17880751 2007
23
[Molecular genetics of inherited neuropathies]. 61
17432174 2006
24
Cloning, expression and characterization of the murine orthologue of SBF2, the gene mutated in Charcot-Marie-Tooth disease type 4B2. 61
16750429 2006
25
[Molecular genetics of inherited neuropathies]. 61
16541790 2006
26
The phosphoinositide-3-phosphatase MTMR2 associates with MTMR13, a membrane-associated pseudophosphatase also mutated in type 4B Charcot-Marie-Tooth disease. 61
15998640 2005

Variations for Charcot-Marie-Tooth Disease, Type 4b2

ClinVar genetic disease variations for Charcot-Marie-Tooth Disease, Type 4b2:

6 (show top 50) (show all 146) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SBF2 NM_030962.3(SBF2):c.5203C>T (p.Gln1735Ter)SNV Pathogenic 802656 11:9806700-9806700 11:9785153-9785153
2 SBF2 SBF2, EX11-12DELdeletion Pathogenic 2909
3 SBF2 NM_030962.3(SBF2):c.5017_5019GAA[1] (p.Glu1674del)short repeat Conflicting interpretations of pathogenicity 216777 rs572571832 11:9809196-9809198 11:9787649-9787651
4 SBF2 NM_030962.3(SBF2):c.5058A>T (p.Arg1686Ser)SNV Conflicting interpretations of pathogenicity 220725 rs146230559 11:9806845-9806845 11:9785298-9785298
5 SBF2 NM_030962.3(SBF2):c.3819C>T (p.Ser1273=)SNV Conflicting interpretations of pathogenicity 219812 rs145351367 11:9838546-9838546 11:9816999-9816999
6 SBF2 NM_030962.3(SBF2):c.4107A>C (p.Ser1369=)SNV Conflicting interpretations of pathogenicity 241612 rs769205402 11:9834127-9834127 11:9812580-9812580
7 SBF2 NM_030962.3(SBF2):c.3843A>G (p.Thr1281=)SNV Conflicting interpretations of pathogenicity 241611 rs147597665 11:9838522-9838522 11:9816975-9816975
8 SBF2 NM_030962.3(SBF2):c.3754A>T (p.Ser1252Cys)SNV Conflicting interpretations of pathogenicity 246568 rs139967004 11:9850942-9850942 11:9829395-9829395
9 SBF2 NM_030962.3(SBF2):c.3290C>A (p.Thr1097Asn)SNV Conflicting interpretations of pathogenicity 246062 rs141894081 11:9861210-9861210 11:9839663-9839663
10 SBF2 NM_030962.3(SBF2):c.1812C>T (p.Asp604=)SNV Conflicting interpretations of pathogenicity 516031 rs765658939 11:9983552-9983552 11:9962005-9962005
11 SBF2 NM_030962.3(SBF2):c.3582C>T (p.Leu1194=)SNV Conflicting interpretations of pathogenicity 543485 rs201514622 11:9853841-9853841 11:9832294-9832294
12 SBF2 NM_030962.3(SBF2):c.4443+1G>CSNV Conflicting interpretations of pathogenicity 637854 11:9829546-9829546 11:9807999-9807999
13 SBF2 NM_030962.3(SBF2):c.5004C>G (p.Thr1668=)SNV Conflicting interpretations of pathogenicity 696379 11:9809214-9809214 11:9787667-9787667
14 SBF2 NM_030962.3(SBF2):c.48G>A (p.Glu16=)SNV Conflicting interpretations of pathogenicity 700873 11:10315569-10315569 11:10294022-10294022
15 SBF2 NM_030962.3(SBF2):c.129G>A (p.Gln43=)SNV Conflicting interpretations of pathogenicity 301928 rs761285505 11:10215461-10215461 11:10193914-10193914
16 SBF2 NM_030962.3(SBF2):c.2598G>A (p.Pro866=)SNV Conflicting interpretations of pathogenicity 306596 rs376372877 11:9874235-9874235 11:9852688-9852688
17 SBF2 NM_030962.3(SBF2):c.946C>T (p.Leu316=)SNV Conflicting interpretations of pathogenicity 301868 rs374841593 11:10019842-10019842 11:9998295-9998295
18 SBF2 NM_030962.3(SBF2):c.514-12C>TSNV Conflicting interpretations of pathogenicity 301874 rs770141264 11:10050116-10050116 11:10028569-10028569
19 SBF2 NM_030962.3(SBF2):c.2397A>G (p.Thr799=)SNV Conflicting interpretations of pathogenicity 306599 rs759550730 11:9875226-9875226 11:9853679-9853679
20 SBF2 NM_030962.3(SBF2):c.2197C>G (p.Gln733Glu)SNV Conflicting interpretations of pathogenicity 306600 rs145199888 11:9878171-9878171 11:9856624-9856624
21 SBF2 NM_030962.3(SBF2):c.705T>C (p.Ser235=)SNV Conflicting interpretations of pathogenicity 301871 rs143209062 11:10024151-10024151 11:10002604-10002604
22 SBF2 NM_030962.3(SBF2):c.1971A>G (p.Val657=)SNV Conflicting interpretations of pathogenicity 306603 rs368639697 11:9879902-9879902 11:9858355-9858355
23 SBF2 NM_030962.3(SBF2):c.1509A>G (p.Glu503=)SNV Conflicting interpretations of pathogenicity 306607 rs143773975 11:9989979-9989979 11:9968432-9968432
24 SBF2 NM_030962.3(SBF2):c.5037C>T (p.Arg1679=)SNV Conflicting interpretations of pathogenicity 383688 rs200784979 11:9809181-9809181 11:9787634-9787634
25 SBF2 NM_030962.3(SBF2):c.2474A>G (p.Lys825Arg)SNV Uncertain significance 306598 rs753921188 11:9875149-9875149 11:9853602-9853602
26 SBF2 NM_030962.3(SBF2):c.3761T>C (p.Leu1254Pro)SNV Uncertain significance 306585 rs762211340 11:9850935-9850935 11:9829388-9829388
27 SBF2 NM_030962.3(SBF2):c.3257-5C>GSNV Uncertain significance 306586 rs886048780 11:9861248-9861248 11:9839701-9839701
28 SBF2 NM_030962.3(SBF2):c.3006G>T (p.Lys1002Asn)SNV Uncertain significance 306589 rs572884226 11:9867216-9867216 11:9845669-9845669
29 SBF2 NM_030962.3(SBF2):c.1601-4C>GSNV Uncertain significance 306605 rs886048784 11:9985433-9985433 11:9963886-9963886
30 SBF2 NM_030962.3(SBF2):c.*1439C>ASNV Uncertain significance 306554 rs531522907 11:9800526-9800526 11:9778979-9778979
31 SBF2 NM_030962.3(SBF2):c.*631T>CSNV Uncertain significance 306563 rs573284772 11:9801334-9801334 11:9779787-9779787
32 SBF2 NM_030962.3(SBF2):c.*375G>ASNV Uncertain significance 306567 rs533676532 11:9801590-9801590 11:9780043-9780043
33 SBF2 NM_030962.3(SBF2):c.*1255G>ASNV Uncertain significance 306558 rs886048774 11:9800710-9800710 11:9779163-9779163
34 SBF2 NM_030962.3(SBF2):c.*19G>ASNV Uncertain significance 306573 rs770446132 11:9801946-9801946 11:9780399-9780399
35 SBF2 NM_030962.3(SBF2):c.5296G>A (p.Val1766Ile)SNV Uncertain significance 306575 rs886048779 11:9805921-9805921 11:9784374-9784374
36 SBF2 NM_030962.3(SBF2):c.4931G>A (p.Ser1644Asn)SNV Uncertain significance 306579 rs754078134 11:9810657-9810657 11:9789110-9789110
37 SBF2 NM_030962.3(SBF2):c.4733A>G (p.Lys1578Arg)SNV Uncertain significance 306580 rs775360425 11:9810855-9810855 11:9789308-9789308
38 SBF2 NM_030962.3(SBF2):c.4712A>G (p.Asn1571Ser)SNV Uncertain significance 306581 rs371960255 11:9810876-9810876 11:9789329-9789329
39 SBF2 NM_030962.3(SBF2):c.-106C>TSNV Uncertain significance 302104 rs886047578 11:10315722-10315722 11:10294175-10294175
40 SBF2 NM_030962.3(SBF2):c.3001A>T (p.Met1001Leu)SNV Uncertain significance 306590 rs781742897 11:9867221-9867221 11:9845674-9845674
41 SBF2 NM_030962.3(SBF2):c.23T>G (p.Phe8Cys)SNV Uncertain significance 302100 rs886047576 11:10315594-10315594 11:10294047-10294047
42 SBF2 NM_030962.3(SBF2):c.2100+7G>ASNV Uncertain significance 306601 rs370918433 11:9879766-9879766 11:9858219-9858219
43 SBF2 NM_030962.3(SBF2):c.1799G>A (p.Arg600Gln)SNV Uncertain significance 306604 rs185968327 11:9983565-9983565 11:9962018-9962018
44 SBF2 NM_030962.3(SBF2):c.1519G>A (p.Glu507Lys)SNV Uncertain significance 306606 rs139217120 11:9989969-9989969 11:9968422-9968422
45 SBF2 NM_030962.3(SBF2):c.546G>T (p.Gln182His)SNV Uncertain significance 301873 rs886047534 11:10050072-10050072 11:10028525-10028525
46 SBF2 NM_030962.3(SBF2):c.*730G>ASNV Uncertain significance 306562 rs886048777 11:9801235-9801235 11:9779688-9779688
47 SBF2 NM_030962.3(SBF2):c.*480G>ASNV Uncertain significance 306565 rs148002177 11:9801485-9801485 11:9779938-9779938
48 SBF2 NM_030962.3(SBF2):c.*375G>CSNV Uncertain significance 306566 rs533676532 11:9801590-9801590 11:9780043-9780043
49 SBF2 NM_030962.3(SBF2):c.*1441C>TSNV Uncertain significance 306553 rs562275980 11:9800524-9800524 11:9778977-9778977
50 SBF2 NM_030962.3(SBF2):c.4522C>T (p.Arg1508Cys)SNV Uncertain significance 306583 rs141108330 11:9817426-9817426 11:9795879-9795879

Expression for Charcot-Marie-Tooth Disease, Type 4b2

Search GEO for disease gene expression data for Charcot-Marie-Tooth Disease, Type 4b2.

Pathways for Charcot-Marie-Tooth Disease, Type 4b2

Pathways related to Charcot-Marie-Tooth Disease, Type 4b2 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.17 VAC14 PIKFYVE MTMR2 MTMR1 MTM1 FIG4
2
Show member pathways
12.12 PIKFYVE MTMR2 MTMR1 MTM1 FIG4
3
Show member pathways
11.36 VAC14 PIKFYVE MTMR2 MTMR1 MTM1 FIG4

GO Terms for Charcot-Marie-Tooth Disease, Type 4b2

Cellular components related to Charcot-Marie-Tooth Disease, Type 4b2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.28 VAC14 SBF2 SBF1 PRX PIKFYVE MTMR2
2 cytosol GO:0005829 10.2 VAC14 SBF2 SBF1 PIKFYVE MTMR2 MTMR1
3 perinuclear region of cytoplasm GO:0048471 9.8 SBF2 SBF1 PIKFYVE MTMR2 DNM2
4 Golgi membrane GO:0000139 9.77 VAC14 PIKFYVE LITAF FIG4 DNM2
5 late endosome membrane GO:0031902 9.62 VAC14 PIKFYVE LITAF FIG4
6 early endosome membrane GO:0031901 9.55 VAC14 PIKFYVE MTMR2 LITAF FIG4
7 vacuolar membrane GO:0005774 9.43 VAC14 SBF2 MTMR2
8 endosome membrane GO:0010008 9.43 VAC14 SBF2 PIKFYVE MTMR2 LITAF FIG4
9 endosome GO:0005768 9.23 VAC14 SBF2 PIKFYVE MTMR2 MTM1 LITAF

Biological processes related to Charcot-Marie-Tooth Disease, Type 4b2 according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 peptidyl-tyrosine dephosphorylation GO:0035335 9.67 MTMR2 MTMR1 MTM1
2 regulation of GTPase activity GO:0043087 9.63 SBF2 SBF1 FGD4
3 dephosphorylation GO:0016311 9.62 MTMR2 MTMR1 MTM1 FIG4
4 mitochondrial fission GO:0000266 9.51 GDAP1 DNM2
5 phosphatidylinositol-3-phosphate biosynthetic process GO:0036092 9.48 PIKFYVE FIG4
6 negative regulation of myelination GO:0031642 9.43 MTMR2 FIG4
7 phosphatidylinositol dephosphorylation GO:0046856 9.43 MTMR2 MTMR1 MTM1
8 peripheral nervous system myelin maintenance GO:0032287 9.4 SH3TC2 PRX
9 regulation of phosphatidylinositol dephosphorylation GO:0060304 9.37 MTMR2 MTMR1
10 phosphatidylinositol metabolic process GO:0046488 9.33 PIKFYVE MTMR2 FIG4
11 phosphatidylinositol biosynthetic process GO:0006661 9.17 VAC14 SBF1 PIKFYVE MTMR2 MTMR1 MTM1
12 myelin assembly GO:0032288 9.13 PIKFYVE MTMR2 FIG4

Molecular functions related to Charcot-Marie-Tooth Disease, Type 4b2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein tyrosine phosphatase activity GO:0004725 9.58 MTMR2 MTMR1 MTM1
2 phosphatase activity GO:0016791 9.56 SBF1 MTMR2 MTMR1 MTM1
3 WW domain binding GO:0050699 9.43 LITAF DNM2
4 phosphatase regulator activity GO:0019208 9.37 SBF2 SBF1
5 phosphatidylinositol phosphate phosphatase activity GO:0052866 9.32 MTMR2 MTMR1
6 phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity GO:0043813 9.16 PIKFYVE FIG4
7 phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity GO:0052629 9.13 MTMR2 MTMR1 MTM1
8 phosphatidylinositol-3-phosphatase activity GO:0004438 8.92 MTMR2 MTMR1 MTM1 FIG4

Sources for Charcot-Marie-Tooth Disease, Type 4b2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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