CMTRIB
MCID: CHR666
MIFTS: 34

Charcot-Marie-Tooth Disease, Recessive Intermediate B (CMTRIB)

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

Aliases & Classifications for Charcot-Marie-Tooth Disease, Recessive Intermediate B

MalaCards integrated aliases for Charcot-Marie-Tooth Disease, Recessive Intermediate B:

Name: Charcot-Marie-Tooth Disease, Recessive Intermediate B 56 29 6 39 71
Ri-Cmtb 56 12 52 73
Cmtrib 56 12 52 73
Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease Type B 12 52 58
Charcot-Marie-Tooth Disease, Recessive Intermediate, B 56 52 13
Charcot-Marie-Tooth Neuropathy, Recessive Intermediate B 56 52
Charcot-Marie-Tooth Neuropathy Recessive Intermediate B 12 73
Charcot-Marie-Tooth Disease Recessive Intermediate B 12 15
Ri-Cmt Type B 52 58
Charcot-Marie-Tooth Neuropathy, Recessive Intermediate B; Ri-Cmtb 56
Charcot-Marie-Tooth Disease, Recessive, Intermediate Type, B 73

Characteristics:

Orphanet epidemiological data:

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

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
one patient has been reported (last curated november 2010)


HPO:

31
charcot-marie-tooth disease, recessive intermediate b:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0110204
OMIM 56 613641
OMIM Phenotypic Series 56 PS118220
MeSH 43 D002607
ICD10 32 G60.0
ICD10 via Orphanet 33 G60.0
Orphanet 58 ORPHA254334
MedGen 41 C3150897
UMLS 71 C3150897

Summaries for Charcot-Marie-Tooth Disease, Recessive Intermediate B

UniProtKB/Swiss-Prot : 73 Charcot-Marie-Tooth disease, recessive, intermediate type, B: A form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Recessive intermediate forms of Charcot-Marie-Tooth disease are characterized by clinical and pathologic features intermediate between demyelinating and axonal peripheral neuropathies, and motor median nerve conduction velocities ranging from 25 to 45 m/sec.

MalaCards based summary : Charcot-Marie-Tooth Disease, Recessive Intermediate B, also known as ri-cmtb, is related to cerebellar ataxia type 42 and robinow syndrome, autosomal recessive 1. An important gene associated with Charcot-Marie-Tooth Disease, Recessive Intermediate B is KARS1 (Lysyl-TRNA Synthetase 1), and among its related pathways/superpathways is tRNA Aminoacylation. Related phenotypes are global developmental delay and areflexia

Disease Ontology : 12 A Charcot-Marie-Tooth disease intermediate type that has material basis in compound heterozygous mutation in the KARS gene on chromosome 16q23.

More information from OMIM: 613641 PS118220

Related Diseases for Charcot-Marie-Tooth Disease, Recessive Intermediate B

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, Recessive Intermediate B via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 27)
# Related Disease Score Top Affiliating Genes
1 cerebellar ataxia type 42 10.0 C1orf185 ASB16
2 robinow syndrome, autosomal recessive 1 10.0 KARS1 AARS1
3 myopathy, lactic acidosis, and sideroblastic anemia 10.0 YARS2 AARS2
4 charcot-marie-tooth disease, axonal, type 2a1 9.9 GARS1 AARS1
5 charcot-marie-tooth disease, axonal, type 2i 9.9 GARS1 AARS1
6 charcot-marie-tooth disease, axonal, type 2b2 9.9 GARS1 AARS1
7 tooth disease 9.8 KARS1 GARS1 AARS1
8 combined oxidative phosphorylation deficiency 12 9.8 YARS2 AARS2 AARS1
9 charcot-marie-tooth disease, axonal, type 2u 9.7 KARS1 GARS1 AARS1
10 pontocerebellar hypoplasia, type 6 9.7 KARS1 GARS1 AARS1
11 epileptic encephalopathy, early infantile, 29 9.7 KARS1 GARS1 AARS1
12 spastic paraplegia 17, autosomal dominant 9.7 KIF5A GARS1
13 combined oxidative phosphorylation deficiency 20 9.7 YARS2 KARS1 GARS1
14 rigid spine muscular dystrophy 1 9.6 YARS2 AARS1
15 neuromuscular disease 9.6 KARS1 GARS1 AARS1
16 mitochondrial metabolism disease 9.5 YARS2 AARS2 AARS1
17 motor peripheral neuropathy 9.5 KIF5A GARS1
18 charcot-marie-tooth disease intermediate type 9.4 YARS2 KARS1 GARS1 AARS1
19 charcot-marie-tooth disease, dominant intermediate c 9.4 YARS2 KARS1 GARS1 AARS1
20 charcot-marie-tooth disease, axonal, type 2d 9.4 YARS2 KARS1 GARS1 AARS1
21 autosomal dominant distal hereditary motor neuronopathy 9.4 YARS2 KARS1 GARS1 AARS1
22 charcot-marie-tooth disease, axonal, type 2e 9.3 KIF5A KARS1 GARS1 AARS1
23 neuropathy, congenital hypomyelinating, 1, autosomal recessive 9.2 YARS2 KIF5A GARS1 AARS1
24 charcot-marie-tooth disease, axonal, type 2n 9.1 YARS2 KARS1 GARS1 AARS2 AARS1
25 neuronopathy, distal hereditary motor, type va 9.1 YARS2 KARS1 GARS1 AARS2 AARS1
26 perrault syndrome 9.1 YARS2 KARS1 GARS1 AARS2 AARS1
27 charcot-marie-tooth disease 8.7 YARS2 KIF5A KARS1 GARS1 AARS2 AARS1

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



Diseases related to Charcot-Marie-Tooth Disease, Recessive Intermediate B

Symptoms & Phenotypes for Charcot-Marie-Tooth Disease, Recessive Intermediate B

Human phenotypes related to Charcot-Marie-Tooth Disease, Recessive Intermediate B:

31 (show all 8)
# Description HPO Frequency HPO Source Accession
1 global developmental delay 31 HP:0001263
2 areflexia 31 HP:0001284
3 pes cavus 31 HP:0001761
4 hyporeflexia 31 HP:0001265
5 steppage gait 31 HP:0003376
6 distal sensory impairment 31 HP:0002936
7 foot dorsiflexor weakness 31 HP:0009027
8 vestibular schwannoma 31 HP:0009588

Symptoms via clinical synopsis from OMIM:

56
Neurologic Peripheral Nervous System:
areflexia
hyporeflexia
distal sensory impairment
'steppage' gait
foot drop
more
Neoplasia:
vestibular schwannoma

Neurologic Behavioral Psychiatric Manifestations:
self-abusive behavior

Skeletal Feet:
pes cavus

Neurologic:
delayed development

Head And Neck Face:
dysmorphic features

Clinical features from OMIM:

613641

Drugs & Therapeutics for Charcot-Marie-Tooth Disease, Recessive Intermediate B

Search Clinical Trials , NIH Clinical Center for Charcot-Marie-Tooth Disease, Recessive Intermediate B

Genetic Tests for Charcot-Marie-Tooth Disease, Recessive Intermediate B

Genetic tests related to Charcot-Marie-Tooth Disease, Recessive Intermediate B:

# Genetic test Affiliating Genes
1 Charcot-Marie-Tooth Disease, Recessive Intermediate B 29 KARS1

Anatomical Context for Charcot-Marie-Tooth Disease, Recessive Intermediate B

Publications for Charcot-Marie-Tooth Disease, Recessive Intermediate B

Articles related to Charcot-Marie-Tooth Disease, Recessive Intermediate B:

# Title Authors PMID Year
1
Compound heterozygosity for loss-of-function lysyl-tRNA synthetase mutations in a patient with peripheral neuropathy. 56 6
20920668 2010
2
Intermediate Charcot-Marie-Tooth disease: an electrophysiological reappraisal and systematic review. 56 61
28364294 2017
3
Charcot-Marie-Tooth (CMT) Hereditary Neuropathy Overview 6
20301532 1998

Variations for Charcot-Marie-Tooth Disease, Recessive Intermediate B

ClinVar genetic disease variations for Charcot-Marie-Tooth Disease, Recessive Intermediate B:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 KARS1 NM_005548.2(KARS1):c.314T>A (p.Leu105His)SNV Pathogenic 8169 rs267607194 16:75674156-75674156 16:75640258-75640258
2 KARS1 NM_005548.2(KARS1):c.430_431dup (p.Tyr145fs)duplication Pathogenic 8170 rs587776688 16:75670402-75670403 16:75636504-75636505
3 KARS1 NM_005548.3(KARS1):c.1178G>A (p.Arg393Gln)SNV Conflicting interpretations of pathogenicity 439842 rs149772470 16:75665388-75665388 16:75631490-75631490
4 KARS1 NM_005548.2(KARS1):c.223-7_223-6deldeletion Benign 522243 rs370077957 16:75674253-75674254 16:75640355-75640356
5 KARS1 NM_005548.2(KARS1):c.223-6deldeletion Benign 218513 rs370077957 16:75674253-75674253 16:75640355-75640355

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

73
# Symbol AA change Variation ID SNP ID
1 KARS1 p.Leu105His VAR_064911 rs267607194
2 KARS1 p.Ile274Met VAR_064912 rs146955132

Expression for Charcot-Marie-Tooth Disease, Recessive Intermediate B

Search GEO for disease gene expression data for Charcot-Marie-Tooth Disease, Recessive Intermediate B.

Pathways for Charcot-Marie-Tooth Disease, Recessive Intermediate B

Pathways related to Charcot-Marie-Tooth Disease, Recessive Intermediate B according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.26 YARS2 KARS1 GARS1 AARS2 AARS1

GO Terms for Charcot-Marie-Tooth Disease, Recessive Intermediate B

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

# Name GO ID Score Top Affiliating Genes
1 mitochondrial matrix GO:0005759 9.13 YARS2 KARS1 GARS1
2 mitochondrion GO:0005739 9.02 YARS2 KARS1 GARS1 AARS2 AARS1

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

# Name GO ID Score Top Affiliating Genes
1 translation GO:0006412 9.55 YARS2 KARS1 GARS1 AARS2 AARS1
2 tRNA modification GO:0006400 9.43 AARS2 AARS1
3 aminoacyl-tRNA metabolism involved in translational fidelity GO:0106074 9.4 AARS2 AARS1
4 alanyl-tRNA aminoacylation GO:0006419 9.37 AARS2 AARS1
5 diadenosine tetraphosphate biosynthetic process GO:0015966 9.32 KARS1 GARS1
6 mitochondrial alanyl-tRNA aminoacylation GO:0070143 9.26 AARS2 AARS1
7 tRNA aminoacylation GO:0043039 9.13 YARS2 AARS2 AARS1
8 tRNA aminoacylation for protein translation GO:0006418 8.92 YARS2 KARS1 GARS1 AARS1

Molecular functions related to Charcot-Marie-Tooth Disease, Recessive Intermediate B according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleotide binding GO:0000166 9.91 YARS2 KIF5A KARS1 GARS1 AARS2 AARS1
2 ATP binding GO:0005524 9.85 YARS2 KIF5A KARS1 GARS1 AARS2 AARS1
3 tRNA binding GO:0000049 9.46 YARS2 KARS1 AARS2 AARS1
4 amino acid binding GO:0016597 9.43 KARS1 AARS2 AARS1
5 aminoacyl-tRNA editing activity GO:0002161 9.4 AARS2 AARS1
6 ligase activity GO:0016874 9.35 YARS2 KARS1 GARS1 AARS2 AARS1
7 alanine-tRNA ligase activity GO:0004813 9.32 AARS2 AARS1
8 aminoacyl-tRNA ligase activity GO:0004812 9.02 YARS2 KARS1 GARS1 AARS2 AARS1

Sources for Charcot-Marie-Tooth Disease, Recessive Intermediate B

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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