CMTRIB
MCID: CHR666
MIFTS: 23

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

Categories: Genetic diseases, Metabolic diseases, Muscle 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 58 30 6 41 74
Ri-Cmtb 58 12 54 76
Cmtrib 58 12 54 76
Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease Type B 12 54 60
Charcot-Marie-Tooth Disease, Recessive Intermediate, B 58 54 13
Charcot-Marie-Tooth Neuropathy, Recessive Intermediate B 58 54
Charcot-Marie-Tooth Neuropathy Recessive Intermediate B 12 76
Charcot-Marie-Tooth Disease Recessive Intermediate B 12 15
Ri-Cmt Type B 54 60
Charcot-Marie-Tooth Neuropathy, Recessive Intermediate B; Ri-Cmtb 58
Charcot-Marie-Tooth Disease, Recessive, Intermediate Type, B 76

Characteristics:

Orphanet epidemiological data:

60
autosomal recessive intermediate charcot-marie-tooth disease type b
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal recessive

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


HPO:

33
charcot-marie-tooth disease, recessive intermediate b:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 60  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0110204
OMIM 58 613641
MeSH 45 D002607
ICD10 34 G60.0
ICD10 via Orphanet 35 G60.0
Orphanet 60 ORPHA254334
MedGen 43 C3150897
UMLS 74 C3150897

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

UniProtKB/Swiss-Prot : 76 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 charcot-marie-tooth disease. An important gene associated with Charcot-Marie-Tooth Disease, Recessive Intermediate B is KARS (Lysyl-TRNA Synthetase). Related phenotypes are global developmental delay and pes cavus

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.

Description from OMIM: 613641

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 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, Type 4b3 Charcot-Marie-Tooth Disease, Recessive Intermediate C
Charcot-Marie-Tooth Disease, Type 4k 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 2a2
Autosomal Dominant Intermediate Charcot-Marie-Tooth Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease Type B
Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease Charcot-Marie-Tooth Disease Type 2a
Charcot-Marie-Tooth Disease Type 2c Charcot-Marie-Tooth Disease Type 2f
Charcot-Marie-Tooth Disease Type 2g Charcot-Marie-Tooth Disease Type 2k
Charcot-Marie-Tooth Disease Type 2l Charcot-Marie-Tooth Disease Type 2n
Charcot-Marie-Tooth Disease Type 2o Charcot-Marie-Tooth Disease Type 2q
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:

# Related Disease Score Top Affiliating Genes
1 charcot-marie-tooth disease 9.5 GJB1 KARS

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

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

33 (show all 8)
# Description HPO Frequency HPO Source Accession
1 global developmental delay 33 HP:0001263
2 pes cavus 33 HP:0001761
3 areflexia 33 HP:0001284
4 hyporeflexia 33 HP:0001265
5 foot dorsiflexor weakness 33 HP:0009027
6 steppage gait 33 HP:0003376
7 distal sensory impairment 33 HP:0002936
8 vestibular schwannoma 33 HP:0009588

Symptoms via clinical synopsis from OMIM:

58
Skeletal Feet:
pes cavus

Neoplasia:
vestibular schwannoma

Neurologic Behavioral Psychiatric Manifestations:
self-abusive behavior

Neurologic Peripheral Nervous System:
areflexia
hyporeflexia
distal sensory impairment
'steppage' gait
foot drop
more
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 30 KARS

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 Year
1
Compound heterozygosity for loss-of-function lysyl-tRNA synthetase mutations in a patient with peripheral neuropathy. ( 20920668 )
2010

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

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

76
# Symbol AA change Variation ID SNP ID
1 KARS p.Leu105His VAR_064911 rs267607194
2 KARS p.Ile274Met VAR_064912 rs146955132

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 KARS NM_001130089.1(KARS): c.398T> A (p.Leu133His) single nucleotide variant Pathogenic rs267607194 GRCh37 Chromosome 16, 75674156: 75674156
2 KARS NM_001130089.1(KARS): c.398T> A (p.Leu133His) single nucleotide variant Pathogenic rs267607194 GRCh38 Chromosome 16, 75640258: 75640258
3 KARS NM_001130089.1(KARS): c.514_515dupTT (p.Tyr173Serfs) duplication Pathogenic rs587776688 GRCh38 Chromosome 16, 75636505: 75636506
4 KARS NM_001130089.1(KARS): c.514_515dupTT (p.Tyr173Serfs) duplication Pathogenic rs587776688 GRCh37 Chromosome 16, 75670403: 75670404
5 KARS NM_001130089.1(KARS): c.307-6delT deletion Benign rs370077957 GRCh37 Chromosome 16, 75674253: 75674253
6 KARS NM_001130089.1(KARS): c.307-6delT deletion Benign rs370077957 GRCh38 Chromosome 16, 75640355: 75640355
7 KARS NM_001130089.1(KARS): c.1262G> A (p.Arg421Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs149772470 GRCh37 Chromosome 16, 75665388: 75665388
8 KARS NM_001130089.1(KARS): c.1262G> A (p.Arg421Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs149772470 GRCh38 Chromosome 16, 75631490: 75631490
9 KARS NM_001130089.1(KARS): c.307-7_307-6delTT deletion Benign rs370077957 GRCh37 Chromosome 16, 75674253: 75674254
10 KARS NM_001130089.1(KARS): c.307-7_307-6delTT deletion Benign rs370077957 GRCh38 Chromosome 16, 75640355: 75640356

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

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

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 protein homodimerization activity GO:0042803 8.62 GJB1 KARS

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....