CMT4B2
MCID: CHR519
MIFTS: 45

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 sensory peripheral 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 superpathway of inositol phosphate compounds and PI Metabolism. Affiliated tissues include brain, spinal cord and eye, and related phenotypes are sensorineural hearing impairment and areflexia

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 sensory peripheral neuropathy 28.2 SH3TC2 SBF2 PRX MTMR2 MTM1 MPZ
3 neuropathy 27.4 SH3TC2 SBF2 RAB7A PRX MTMR2 MPZ
4 charcot-marie-tooth disease, type 4b1 26.7 SH3TC2 SBF2 SBF1 PRX PIKFYVE MTMR2
5 peripheral nervous system disease 26.6 SH3TC2 SBF2 RAB7A PRX MTMR2 MTM1
6 tooth disease 26.6 SH3TC2 SBF2 SBF1 RAB7A PRX MTMR2
7 neuropathy, congenital hypomyelinating, 1, autosomal recessive 26.6 SH3TC2 SBF2 SBF1 RAB7A PRX PIKFYVE
8 charcot-marie-tooth disease 25.1 SH3TC2 SBF2-AS1 SBF2 SBF1 RAB7A PRX
9 neuropathy, hereditary motor and sensory, russe type 10.2 SH3TC2 GDAP1
10 autosomal recessive disease 10.2
11 argyll robertson pupil 10.2 MPZ GDAP1
12 abnormal pupillary function 10.2 MPZ GDAP1
13 pupil disease 10.2 MPZ GDAP1
14 charcot-marie-tooth disease, axonal, type 2a1 10.2 MPZ GDAP1
15 myopathy, centronuclear, x-linked 10.2 MTM1 DNM2
16 neuropathy, hereditary sensory and autonomic, type ic 10.1 SH3TC2 LITAF
17 charcot-marie-tooth disease, axonal, type 2b2 10.1 MPZ GDAP1
18 charcot-marie-tooth disease, type 4k 10.1 SH3TC2 LITAF
19 charcot-marie-tooth disease, axonal, type 2p 10.1 LITAF GDAP1
20 myopathy, centronuclear, 1 10.0 MTM1 DNM2
21 charcot-marie-tooth disease, dominant intermediate d 10.0 MPZ DNM2
22 charcot-marie-tooth disease x-linked recessive 4 10.0 MPZ GJB1
23 autoimmune peripheral neuropathy 10.0 MPZ GJB1
24 mononeuropathy 10.0 SH3TC2 MPZ
25 central core myopathy 10.0 MTM1 DNM2
26 nerve compression syndrome 10.0 SH3TC2 MPZ
27 peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung disease 9.9 MPZ GJB1
28 charcot-marie-tooth disease, axonal, type 2cc 9.9 MPZ GJB1
29 charcot-marie-tooth disease, dominant intermediate c 9.8 MPZ GDAP1 DNM2
30 charcot-marie-tooth disease, axonal, type 2d 9.8 MPZ GJB1 GDAP1
31 neuropathy, hereditary sensory and autonomic, type iia 9.7 SH3TC2 LITAF GDAP1 FGD4
32 charcot-marie-tooth disease, x-linked recessive, 2 9.7 MPZ LITAF GJB1
33 charcot-marie-tooth disease, axonal, type 2q 9.7 MPZ GJB1
34 charcot-marie-tooth disease, axonal, type 2j 9.7 SH3TC2 SBF2 MTMR2 MPZ GDAP1
35 yunis-varon syndrome 9.7 SBF2 PIKFYVE MTMR2 FIG4
36 charcot-marie-tooth disease, axonal, type 2f 9.7 MTMR2 MPZ GJB1 GDAP1
37 corneal dystrophy, fleck 9.7 SBF2 PIKFYVE MTMR2 FIG4
38 hereditary neuropathies 9.6 PRX MTMR2 MPZ GJB1
39 charcot-marie-tooth disease, axonal, type 2l 9.6 RAB7A MPZ GDAP1
40 motor peripheral neuropathy 9.6 SH3TC2 LITAF GJB1 GDAP1
41 charcot-marie-tooth disease type x 9.5 SH3TC2 MTMR2 MPZ GJB1 GDAP1
42 hereditary sensory and autonomic neuropathy type 1 9.4 SH3TC2 RAB7A LITAF GDAP1
43 charcot-marie-tooth disease, type 4b3 9.3 SH3TC2 SBF2 SBF1 PIKFYVE MTMR2 GDAP1
44 charcot-marie-tooth disease, dominant intermediate e 9.3 SH3TC2 SBF2 MTMR2 MPZ GDAP1 DNM2
45 charcot-marie-tooth disease type 2a2a 9.3 SH3TC2 MPZ LITAF GJB1 GDAP1
46 charcot-marie-tooth disease, axonal, type 2i 9.3 SH3TC2 MPZ LITAF GJB1 GDAP1
47 cataract 8, multiple types 9.2 RAB7A DNM2
48 charcot-marie-tooth disease, dominant intermediate a 9.2 PRX MPZ GJB1 GDAP1 DNM2
49 centronuclear myopathy 9.2 SBF2 SBF1 PIKFYVE MTMR2 MTM1 DNM2
50 charcot-marie-tooth disease, demyelinating, type 1d 9.1 PRX MTMR2 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 areflexia 31 HP:0001284
3 pes cavus 31 HP:0001761
4 decreased motor nerve conduction velocity 31 HP:0003431
5 talipes equinovarus 31 HP:0001762
6 kyphoscoliosis 31 HP:0002751
7 glaucoma 31 HP:0000501
8 hyporeflexia 31 HP:0001265
9 split hand 31 HP:0001171
10 difficulty walking 31 HP:0002355
11 distal amyotrophy 31 HP:0003693
12 foot dorsiflexor weakness 31 HP:0009027
13 hammertoe 31 HP:0001765
14 distal muscle weakness 31 HP:0002460
15 steppage gait 31 HP:0003376
16 segmental peripheral demyelination/remyelination 31 HP:0003481
17 distal sensory impairment 31 HP:0002936
18 decreased number of peripheral myelinated nerve fibers 31 HP:0003380
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 9.7 FGD4 FIG4 GDAP1 GJB1 MPZ MTM1
2 nervous system MP:0003631 9.4 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, Eye

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). 61 56 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. 61 56 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. 56 6
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). 56 6
9521281 1998
7
Loss of the inactive myotubularin-related phosphatase Mtmr13 leads to a Charcot-Marie-Tooth 4B2-like peripheral neuropathy in mice. 61 56
18349142 2008
8
Mtmr13/Sbf2-deficient mice: an animal model for CMT4B2. 61 56
17855448 2007
9
Charcot-Marie-Tooth Neuropathy Type 4 61 6
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 all 11) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SBF2 SBF2, EX11-12DELdeletion Pathogenic 2909
2 SBF2 NM_030962.3(SBF2):c.5203C>T (p.Gln1735Ter)SNV Pathogenic 802656 11:9806700-9806700 11:9785153-9785153
3 SBF2 NM_030962.3(SBF2):c.4443+1G>CSNV Conflicting interpretations of pathogenicity 637854 11:9829546-9829546 11:9807999-9807999
4 SBF2 NM_030962.3(SBF2):c.3935G>A (p.Arg1312Gln)SNV Uncertain significance 587625 rs768571931 11:9838430-9838430 11:9816883-9816883
5 SBF2 NM_030962.3(SBF2):c.5041C>T (p.Gln1681Ter)SNV Uncertain significance 632177 rs1343702415 11:9806862-9806862 11:9785315-9785315
6 SBF2 NM_030962.3(SBF2):c.1024C>T (p.Arg342Ter)SNV Uncertain significance 632145 rs1565106242 11:10015497-10015497 11:9993950-9993950
7 SBF2 NM_030962.3(SBF2):c.5014_5016del (p.Lys1672del)deletion Uncertain significance 397621 rs750958357 11:9809202-9809204 11:9787655-9787657
8 SBF2 NM_030962.3(SBF2):c.1967G>C (p.Cys656Ser)SNV Uncertain significance 429748 rs138120231 11:9879906-9879906 11:9858359-9858359
9 SBF2 NM_030962.3(SBF2):c.3292C>G (p.Leu1098Val)SNV Benign/Likely benign 138964 rs117957652 11:9861208-9861208 11:9839661-9839661
10 SBF2 NM_030962.3(SBF2):c.4571-6C>TSNV Benign 261940 rs2645029 11:9812236-9812236 11:9790689-9790689
11 SBF2 NM_030962.3(SBF2):c.753-16T>ASNV Benign 518234 rs7128234 11:10022585-10022585 11:10001038-10001038

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

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 perinuclear region of cytoplasm GO:0048471 9.72 SBF2 SBF1 PIKFYVE MTMR2 DNM2
2 early endosome membrane GO:0031901 9.56 PIKFYVE MTMR2 LITAF FIG4
3 late endosome membrane GO:0031902 9.46 RAB7A PIKFYVE LITAF FIG4
4 endosome membrane GO:0010008 9.43 SBF2 RAB7A PIKFYVE MTMR2 LITAF FIG4
5 vacuolar membrane GO:0005774 9.37 SBF2 MTMR2
6 endosome GO:0005768 9.23 SBF2 RAB7A PIKFYVE MTMR2 MTM1 LITAF

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

# Name GO ID Score Top Affiliating Genes
1 dephosphorylation GO:0016311 9.63 MTMR2 MTM1 FIG4
2 regulation of GTPase activity GO:0043087 9.5 SBF2 SBF1 FGD4
3 phosphatidylinositol dephosphorylation GO:0046856 9.43 MTMR2 MTM1
4 mitochondrial fission GO:0000266 9.4 GDAP1 DNM2
5 phosphatidylinositol-3-phosphate biosynthetic process GO:0036092 9.37 PIKFYVE FIG4
6 phosphatidylinositol metabolic process GO:0046488 9.33 PIKFYVE MTMR2 FIG4
7 negative regulation of myelination GO:0031642 9.26 MTMR2 FIG4
8 myelin assembly GO:0032288 9.13 PIKFYVE MTMR2 FIG4
9 phosphatidylinositol biosynthetic process GO:0006661 9.02 SBF1 PIKFYVE MTMR2 MTM1 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 phosphatase activity GO:0016791 9.5 SBF1 MTMR2 MTM1
2 WW domain binding GO:0050699 9.37 LITAF DNM2
3 phosphatase regulator activity GO:0019208 9.26 SBF2 SBF1
4 phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity GO:0052629 9.16 MTMR2 MTM1
5 phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity GO:0043813 8.96 PIKFYVE FIG4
6 phosphatidylinositol-3-phosphatase activity GO:0004438 8.8 MTMR2 MTM1 FIG4

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

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