LITAF - lipopolysaccharide induced TNF factor Gene

Also Known as PIG7; SIMPLE; TP53I7

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 9516

About LITAF

Cytogenetic location: 16p13.13 Genomic coordinates (GRCh38): 16:11,547,722-11,640,317 (from NCBI)

This gene has 19 transcripts (splice variants), 198 orthologues, 1 paralogue and is associated with 2 phenotypes. Ubiquitous expression in appendix (RPKM 52.8), thyroid (RPKM 42.1) and 25 other tissues.

Summary

Lipopolysaccharide is a potent stimulator of monocytes and macrophages, causing secretion of tumor necrosis factor-alpha (TNF-alpha) and Other inflammatory mediators. This gene encodes lipopolysaccharide-induced TNF-alpha factor, which is a DNA-binding protein and can mediate the TNF-alpha expression by direct binding to the promoter region of the TNF-alpha gene. The transcription of this gene is induced by tumor suppressor p53 and has been implicated in the p53-induced apoptotic pathway. Mutations in this gene cause Charcot-Marie-Tooth disease type 1C (CMT1C) and may be involved in the carcinogenesis of extramammary Paget's disease (EMPD). Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2014]

LITAF Products (3)

mRNA Protein Name
NM_001136472.2 NP_001129944.1 lipopolysaccharide-induced tumor necrosis factor-alpha factor isoform 1
NM_001136473.1 NP_001129945.1 lipopolysaccharide-induced tumor necrosis factor-alpha factor isoform 2
NM_004862.4 NP_004853.2 lipopolysaccharide-induced tumor necrosis factor-alpha factor isoform 1
Molecular Function GO Annotation Evidence References Source
enables DNA-binding transcription activator activity, RNA polymerase II-specific IMP
IMP: Inferred from mutant phenotype
21217782 GOA
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA
IDA: Inferred from direct assay
12655064 GOA
enables WW domain binding IPI
IPI: Inferred from physical interaction
15064722 GOA
enables identical protein binding IPI
IPI: Inferred from physical interaction
27927196 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
15064722 GOA
enables zinc ion binding IDA
IDA: Inferred from direct assay
27582497 GOA
Biological Process GO Annotation Evidence References Source
involved in positive regulation of transcription by RNA polymerase II IMP
IMP: Inferred from mutant phenotype
21217782 GOA
Cellular Component GO Annotation Evidence References Source
located in Golgi apparatus IDA
IDA: Inferred from direct assay
15064722 GOA
located in Golgi apparatus IMP
IMP: Inferred from mutant phenotype
16118794 GOA
located in cytoplasmic side of early endosome membrane IDA
IDA: Inferred from direct assay
27582497 GOA
located in cytoplasmic side of late endosome membrane IDA
IDA: Inferred from direct assay
27582497 GOA
located in cytoplasmic side of lysosomal membrane IDA
IDA: Inferred from direct assay
27582497 GOA
located in cytoplasmic side of plasma membrane IDA
IDA: Inferred from direct assay
27582497 GOA
located in lysosomal membrane IDA
IDA: Inferred from direct assay
11274176 GOA
located in plasma membrane IMP
IMP: Inferred from mutant phenotype
16118794 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern
Protein Preferred Names Protein Names

lipopolysaccharide-induced tumor necrosis factor-alpha factor

  • LPS-induced TNF-alpha factor

LITAF Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
LITAF Q99732 UBQLN1 Homo sapiens Q9UMX0-2 25910212
Intra
LITAF Q99732 UBQLN1 Homo sapiens Q9UMX0-2 25416956
Intra
LITAF Q99732 UBQLN1 Homo sapiens Q9UMX0-2 25416956
Intra
LITAF Q99732 UBQLN1 Homo sapiens Q9UMX0-2 25910212
Intra
LITAF Q99732 UBQLN1 Homo sapiens Q9UMX0-2 25910212
Intra
LITAF Q99732 KCNIP4 Homo sapiens Q6PIL6 32296183
Intra
LITAF Q99732 KCNIP4 Homo sapiens Q6PIL6 32296183
Intra
LITAF Q99732 EPN1 Homo sapiens Q9Y6I3-3 32296183
Intra
LITAF Q99732 EPN1 Homo sapiens Q9Y6I3-3 32296183
Intra
LITAF Q99732 EPN1 Homo sapiens Q9Y6I3-3 32296183
Intra
LITAF Q99732 WWOX Homo sapiens Q9NZC7-5 32296183
Intra
LITAF Q99732 WWOX Homo sapiens Q9NZC7-5 32296183
Intra
LITAF Q99732 WWOX Homo sapiens Q9NZC7-5 32296183
Intra
LITAF Q99732 GGA3 Homo sapiens Q9NZ52-2 32296183
Intra
LITAF Q99732 GGA3 Homo sapiens Q9NZ52-2 32296183
Intra
LITAF Q99732 GGA3 Homo sapiens Q9NZ52-2 32296183
Intra
LITAF Q99732 TOM1 Homo sapiens O60784-2 32296183
Intra
LITAF Q99732 TOM1 Homo sapiens O60784-2 32296183
Intra
LITAF Q99732 EPN2 Homo sapiens O95208-2 32296183
Intra
LITAF Q99732 EPN2 Homo sapiens O95208-2 32296183
Intra
LITAF Q99732 EPN3 Homo sapiens I6L9I8 32296183
Intra
LITAF Q99732 EPN3 Homo sapiens I6L9I8 32296183
Intra
LITAF Q99732 REEP6 Homo sapiens Q96HR9-2 32296183
Intra
LITAF Q99732 REEP6 Homo sapiens Q96HR9-2 32296183
Intra
LITAF Q99732 CDCA4 Homo sapiens Q9BXL8 32814053
Intra
LITAF Q99732 CDCA4 Homo sapiens Q9BXL8 32814053
Intra
LITAF Q99732 CDCA4 Homo sapiens Q9BXL8 32814053
Intra
LITAF Q99732 KCNIP1 Homo sapiens Q9NZI2-2 32296183
Intra
LITAF Q99732 KCNIP1 Homo sapiens Q9NZI2-2 32296183
Intra
LITAF Q99732 KCNIP1 Homo sapiens Q9NZI2-2 32296183
Intra
LITAF Q99732 TNIP3 Homo sapiens Q96KP6 32296183
Intra
LITAF Q99732 TNIP3 Homo sapiens Q96KP6 32296183
Intra
LITAF Q99732 RASSF3 Homo sapiens Q86WH2 33961781
Intra
LITAF Q99732 RASSF3 Homo sapiens Q86WH2 32296183
Intra
LITAF Q99732 RASSF3 Homo sapiens Q86WH2 28514442
Intra
LITAF Q99732 RASSF3 Homo sapiens Q86WH2 32296183
Intra
LITAF Q99732 TSG101 Homo sapiens Q99816 16118794
Intra
LITAF Q99732 TSG101 Homo sapiens Q99816 16118794
Intra
LITAF Q99732 UBA52 Homo sapiens P62987 32296183
Intra
LITAF Q99732 UBA52 Homo sapiens P62987 32296183
Intra
LITAF Q99732 RPS27A Homo sapiens P62979 32296183
Intra
LITAF Q99732 RPS27A Homo sapiens P62979 32296183
Intra
LITAF Q99732 TNIP1 Homo sapiens Q15025 32296183
Intra
LITAF Q99732 TNIP1 Homo sapiens Q15025 32296183
Intra
LITAF Q99732 BASP1 Homo sapiens P80723 32814053
Intra
LITAF Q99732 BASP1 Homo sapiens P80723 32814053
Intra
LITAF Q99732 BASP1 Homo sapiens P80723 32814053
Intra
LITAF Q99732 STAM2 Homo sapiens O75886 25910212
Intra
LITAF Q99732 STAM2 Homo sapiens O75886 25910212
Intra
LITAF Q99732 STAM2 Homo sapiens O75886 25910212
Intra
LITAF Q99732 STAM2 Homo sapiens O75886 32296183
Intra
LITAF Q99732 STAM2 Homo sapiens O75886 32296183
Intra
LITAF Q99732 CAPN10 Homo sapiens Q9HC96 32814053
Intra
LITAF Q99732 CAPN10 Homo sapiens Q9HC96 32814053
Intra
LITAF Q99732 CAPN10 Homo sapiens Q9HC96 32814053
Intra
LITAF Q99732 DAPP1 Homo sapiens Q9UN19 32814053
Intra
LITAF Q99732 DAPP1 Homo sapiens Q9UN19 32814053
Intra
LITAF Q99732 DAPP1 Homo sapiens Q9UN19 32814053
Intra
LITAF Q99732 WWOX Homo sapiens Q9NZC7
IF
15064722
Intra
LITAF Q99732 WWOX Homo sapiens Q9NZC7 15064722
Intra
LITAF Q99732 WWOX Homo sapiens Q9NZC7 15064722
Intra
LITAF Q99732 HIP1 Homo sapiens O00291 32296183
Intra
LITAF Q99732 HIP1 Homo sapiens O00291 32296183
Intra
LITAF Q99732 N4BP1 Homo sapiens O75113 32296183
Intra
LITAF Q99732 N4BP1 Homo sapiens O75113 32296183
Intra
LITAF Q99732 TAX1BP1 Homo sapiens Q86VP1 32296183
Intra
LITAF Q99732 TAX1BP1 Homo sapiens Q86VP1 32296183
Intra
LITAF Q99732 DAZAP2 Homo sapiens Q15038 32296183
Intra
LITAF Q99732 DAZAP2 Homo sapiens Q15038 32296183
Intra
LITAF Q99732 NEDD4 Homo sapiens P46934 33961781
Intra
LITAF Q99732 NEDD4 Homo sapiens P46934 16118794
Intra
LITAF Q99732 NEDD4 Homo sapiens P46934 16118794
Intra
LITAF Q99732 NEDD4 Homo sapiens P46934 27927196
Intra
LITAF Q99732 NEDD4 Homo sapiens P46934
NMR
27927196
Intra
LITAF Q99732 CALCOCO2 Homo sapiens Q13137 25910212
Intra
LITAF Q99732 CALCOCO2 Homo sapiens Q13137 25416956
Intra
LITAF Q99732 CALCOCO2 Homo sapiens Q13137 25910212
Intra
LITAF Q99732 CALCOCO2 Homo sapiens Q13137 25416956
Intra
LITAF Q99732 CALCOCO2 Homo sapiens Q13137 25910212
Intra
LITAF Q99732 HGS Homo sapiens O14964 25910212
Intra
LITAF Q99732 HGS Homo sapiens O14964 25416956
Intra
LITAF Q99732 HGS Homo sapiens O14964 25910212
Intra
LITAF Q99732 HGS Homo sapiens O14964 25416956
Intra
LITAF Q99732 HGS Homo sapiens O14964 25910212
Intra
LITAF Q99732 VSNL1 Homo sapiens P62760 32296183
Intra
LITAF Q99732 VSNL1 Homo sapiens P62760 32296183
Intra
LITAF Q99732 HPCAL4 Homo sapiens Q9UM19 28514442
Intra
LITAF Q99732 HPCAL4 Homo sapiens Q9UM19 32296183
Intra
LITAF Q99732 HPCAL4 Homo sapiens Q9UM19 32296183
Intra
LITAF Q99732 HPCAL4 Homo sapiens Q9UM19 32296183
Intra
LITAF Q99732 HPCAL4 Homo sapiens Q9UM19 33961781
Intra
LITAF Q99732 BAG3 Homo sapiens O95817 25416956
Intra
LITAF Q99732 HPCAL1 Homo sapiens P37235 32296183
Intra
LITAF Q99732 HPCAL1 Homo sapiens P37235 32296183
Intra
LITAF Q99732 HPCAL1 Homo sapiens P37235 32296183
Intra
LITAF Q99732 NCALD Homo sapiens P61601 32296183
Intra
LITAF Q99732 NCALD Homo sapiens P61601 32296183
Intra
LITAF Q99732 REEP6 Homo sapiens Q96HR9 25416956
Intra
LITAF Q99732 REEP6 Homo sapiens Q96HR9 25910212
Intra
LITAF Q99732 REEP6 Homo sapiens Q96HR9 25910212
Intra
LITAF Q99732 REEP6 Homo sapiens Q96HR9 25416956
Intra
LITAF Q99732 REEP6 Homo sapiens Q96HR9 25910212
Intra
LITAF Q99732 RNF208 Homo sapiens Q9H0X6 32296183
Intra
LITAF Q99732 RNF208 Homo sapiens Q9H0X6 32296183
Intra
LITAF Q99732 RNF208 Homo sapiens Q9H0X6 32296183
Intra
LITAF Q99732 CBX1 Homo sapiens P83916 32814053
Intra
LITAF Q99732 CBX1 Homo sapiens P83916 32814053
Intra
LITAF Q99732 CBX1 Homo sapiens P83916 32814053
Intra
LITAF Q99732 OPTN Homo sapiens Q96CV9-2 25910212
Intra
LITAF Q99732 OPTN Homo sapiens Q96CV9-2 25910212
Intra
LITAF Q99732 OPTN Homo sapiens Q96CV9-2 25910212
Intra
LITAF Q99732 UBQLN2 Homo sapiens Q9UHD9 32296183
Intra
LITAF Q99732 UBQLN2 Homo sapiens Q9UHD9 32296183
Intra
LITAF Q99732 UBQLN2 Homo sapiens Q9UHD9 32296183
Intra
LITAF Q99732 ARID5A Homo sapiens Q03989 32296183
Intra
LITAF Q99732 ARID5A Homo sapiens Q03989 32296183
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Charcot-Marie-Tooth Disease, Demyelinating, Type 1c
  • Charcot-Marie-Tooth Disease Type 1c

  • CMT1C

  • Hmsn1c

  • Hmsn Ic

  • Charcot-Marie-Tooth Disease, Type 1c

  • Charcot-Marie-Tooth Neuropathy Type 1c

  • Cmt, Slow Nerve Conduction Type C

  • Charcot-Marie-Tooth Neuropathy, Type 1c

  • Neuropathy, Hereditary Motor And Sensory, Type Ic

  • Cmt Slow Nerve Conduction Type C

  • Neuropathy Hereditary Motor And Sensory Type 1c

  • Charcot-Marie-Tooth Disease 1c

  • Charcot-Marie-Tooth Disease Demyelinating Type 1c

  • Hereditary Motor And Sensory Neuropathy Ic

  • Charcot-Marie-Tooth Disease, Type Ic

Charcot-Marie-Tooth Disease
  • Cmt

  • Hmsn

  • Hereditary Motor And Sensory Neuropathy

  • Pma

  • Cmt - Charcot-Marie-Tooth Disease

  • Charcot Marie Tooth Disease

  • Charcot-Marie-Tooth Hereditary Neuropathy

  • Charcot-Marie-Tooth Syndrome

  • Peroneal Muscular Atrophy

  • Hereditary Motor And Sensory Neuropathies

Tooth Disease
  • Tooth Diseases

  • Teeth Disease

  • Tooth Disorders

Charcot-Marie-Tooth Disease And Deafness
  • Charcot-Marie-Tooth Disease Type 1e

  • CMT1E

  • Charcot-Marie-Tooth Disease Type 1

  • Hereditary Motor And Sensory Neuropathy Type 1

  • Charcot-Marie-Tooth Disease, Demyelinating, Type 1e

  • Charcot-Marie-Tooth Disease, Type I

  • Charcot-Marie-Tooth Neuropathy And Deafness, Autosomal Dominant

  • Charcot-Marie-Tooth Disease, Type 1e

  • Charcot-Marie-Tooth Disease Demyelinating Type 1e

  • Autosomal Dominant Demyelinating Charcot-Marie-Tooth Disease

  • Cmt1

  • Charcot-Marie-Tooth Neuropathy Type 1

  • Autosomal Dominant Charcot-Marie-Tooth Neuropathy And Deafness

  • Charcot-Marie-Tooth Disease-Deafness

  • Charcot-Marie-Tooth Type 1

  • Hmsn1

  • Hereditary Motor And Sensory Neuropathy 1

  • Cmt 1e

  • Charcot Marie Tooth Disease Type 1e

  • Charcot-Marie-Tooth Disease-Deafness Syndrome

  • Charcot-Marie-Tooth Disease-Hearing Loss Syndrome

  • Charcot-Marie-Tooth Disease 1e

  • Charcot-Marie-Tooth Disease And Deafness Autosomal Dominant

  • Charcot-Marie-Tooth Neuropathy Type 1e

  • Charcot-Marie-Tooth Disease, Type Ie

  • Hereditary Motor And Sensory Neuropathy Type I

Charcot-Marie-Tooth Disease Type 1g
  • Pmp2-Related Charcot-Marie-Tooth Disease Type 1

  • Pmp2-Related Charcot-Marie-Tooth Neuropathy Type 1

  • Pmp2-Related Cmt1

  • Pmp2-Related Hereditary Motor And Sensory Neuropathy Type 1

  • Cmt1g

Charcot-Marie-Tooth Disease, Axonal, Type 2e
  • Charcot-Marie-Tooth Disease Type 2

  • CMT2E

  • CMT2S

  • CMT2Y

  • Charcot-Marie-Tooth Disease Type 2e

  • Charcot-Marie-Tooth Disease Type 2y

  • Charcot-Marie-Tooth Disease Axonal Type 2s

  • Charcot-Marie-Tooth Disease, Axonal, Type 2s

  • Charcot-Marie-Tooth Disease, Type 2e

  • Hereditary Motor And Sensory Neuropathy Type 2

  • Charcot-Marie-Tooth Neuropathy, Type 2s

  • Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2s

  • Charcot-Marie-Tooth Disease, Axonal, Type 2y

  • Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2y

  • Charcot-Marie-Tooth Neuropathy, Type 2y

  • Charcot-Marie-Tooth Disease, Type 2y

  • Autosomal Dominant Charcot-Marie-Tooth Disease Type 2e

  • Charcot-Marie-Tooth Neuropathy Type 2e

  • Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due To Vcp Mutation

  • Cmt2 Due To Vcp Mutation

  • Charcot-Marie-Tooth Disease Type 2s

  • Autosomal Dominant Charcot-Marie-Tooth Disease Type 2

  • Autosomal Dominant Axonal Charcot-Marie-Tooth Disease

  • Cmt2

  • Charcot-Marie-Tooth Neuropathy, Type 2e

  • Hereditary Motor And Sensory Neuropathy Guadalajara Neuronal Type

  • Hereditary Motor And Sensory Neuropathy Okinawa Type

  • Autosomal Dominant Axonal Charcot-Marie-Tooth Type 2y

  • Charcot-Marie-Tooth Neuropathy Type 2y

  • Autosomal Recessive Axonal Charcot-Marie-Tooth Type 2s

  • Charcot-Marie-Tooth Neuropathy Type 2s

  • Charcot-Marie-Tooth Type 2

  • Autosomal Dominant Charcot-Marie-Tooth Disease Type 2y

  • Charcot-Marie-Tooth Disease 2e

  • Charcot-Marie-Tooth Disease Axonal Type 2e

  • Charcot-Marie-Tooth Disease Neuronal Type 2e

  • Charcot-Marie-Tooth Disease 2s

  • Charcot-Marie-Tooth Neuropathy Axonal Type 2s

  • Charcot-Marie-Tooth Disease 2y

  • Charcot-Marie-Tooth Disease, Type 2

  • Hereditary Motor And Sensory-Neuropathy Type Ii

Charcot-Marie-Tooth Disease, Axonal, Type 2p
  • CMT2P

  • Charcot-Marie-Tooth Disease Axonal Type 2p

  • Charcot-Marie-Tooth Disease Type 2p

  • Charcot-Marie-Tooth Neuropathy, Type 2p

  • Charcot-Marie-Tooth Disease, Axonal, Type 2g, Formerly

  • Cmt2g, Formerly

  • Charcot-Marie-Tooth Neuropathy Type 2p

  • Charcot-Marie-Toothe Disease, Axonal, Type 2p

  • Charcot-Marie-Tooth Disease 2p

  • Charcot-Marie-Tooth Disease, Axonal Type 2g

  • Charcot-Marie-Tooth Neuropathy Axonal Type 2p

  • Cmt2g

  • Charcot-Marie-Tooth Disease, Type 2p

  • Charcot-Marie-Tooth Disease, Axonal, Type 2g

Neuropathy, Hereditary, With Liability To Pressure Palsies
  • Tomaculous Neuropathy

  • Hereditary Neuropathy With Liability To Pressure Palsies

  • HNPP

  • Polyneuropathy, Familial Recurrent

  • Neuropathy, Recurrent, With Pressure Palsies

  • Current Pressure-Sensitive Neuropathy

  • Familial Recurrent Polyneuropathy

  • Heterozygous Microdeletion 17p11.2p12

  • Potato-Grubbing Palsy

  • Tulip-Bulb Digger'S Palsy

  • Compression Neuropathy

  • Entrapment Neuropathy

  • Familial Pressure Sensitive Neuropathy

  • Hereditary Motor And Sensory Neuropathy

  • Hereditary Pressure Sensitive Neuropathy

  • Inherited Tendency To Pressure Palsies

  • Hereditary Liability To Pressure Palsies

  • Nerve Compression Syndrome

  • Entrapment Neuropathies

  • Hereditary Motor And Sensory Neuropathies

Charcot-Marie-Tooth Disease, Demyelinating, Type 1a
  • Charcot-Marie-Tooth Disease Type 1a

  • CMT1A

  • Charcot-Marie-Tooth Disease, Type Ia

  • Hmsn1a

  • Hereditary Motor And Sensory Neuropathy Ia

  • Hmsn Ia

  • Charcot-Marie-Tooth Neuropathy, Type 1a

  • Charcot-Marie-Tooth Disease, Type 1a

  • Charcot-Marie-Tooth Neuropathy Type 1a

  • Hereditary Motor And Sensory Neuropathy 1a

  • Microduplication 17p12

  • Charcot-Marie-Tooth Disease, Autosomal Dominant, With Focally Folded Myelin Sheaths, Type 1a

  • Autosomal Dominant Charcot-Marie-Tooth Disease With Focally Folded Myelin Sheaths Type 1a

  • Cmt 1a

  • Charcot Marie Tooth Disease Type 1a

  • Hmsn 1a

  • Charcot-Marie-Tooth Disease 1a

  • Charcot-Marie-Tooth Disease Demyelinating Type 1a

  • Charcot-Marie-Tooth Disease Slow Nerve Conduction Type Unlinked To Duffy

Charcot-Marie-Tooth Disease, Demyelinating, Type 1f
  • Charcot-Marie-Tooth Disease Type 1f

  • CMT1F

  • Charcot-Marie-Tooth Disease, Type 1f

  • Charcot-Marie-Tooth Neuropathy Type 1f

  • Charcot-Marie-Tooth Neuropathy, Type 1f

  • Charcot-Marie-Tooth Disease Type 2b5

  • Ar-Cmt2b5

  • Autosomal Recessive Charcot-Marie-Tooth Disease Type 2b5

  • Seoan Due To Nefl Deficiency

  • Severe Early-Onset Axonal Neuropathy Due To Nefl Deficiency

  • Severe Early-Onset Axonal Neuropathy Due To Light Neurofilament Subunit Deficiency

  • Charcot-Marie-Tooth Disease 1f

  • Charcot-Marie-Tooth Disease Demyelinating Type 1f

  • Charcot-Marie-Tooth Disease, Type If

Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
  • Charcot-Marie-Tooth Disease Type 4

  • Charcot-Marie-Tooth Disease Type 4e

  • Hereditary Motor And Sensory Neuropathy

  • Cmt4e

  • CHN1

  • Hypomyelinating Neuropathy, Congenital, 1

  • Charcot-Marie-Tooth Neuropathy Type 4e

  • Neuropathy, Congenital Hypomyelinating, 1

  • Ar-Cmt1

  • Autosomal Recessive Demyelinating Charcot-Marie-Tooth

  • Cmt4

  • Neuropathy, Congenital Hypomyelinating Or Amyelinating, Autosomal Recessive

  • Hypomyelination, Severe Congenital

  • Charcot-Marie-Tooth Disease, Type 4e

  • Charcot-Marie-Tooth Neuropathy, Type 4e

  • Autosomal Recessive Congenital Hypomyelinating Or Amyelinating Neuropathy

  • Autosomal Recessive Congenital Hypomyelinating Neuropathy

  • Congenital Amyelinating Neuropathy

  • Congenital Hypomyelinating Neuropathy Autosomal Recessive

  • Neuropathy, Congenital Hypomyelinating Or Amyelinating

  • Severe Congenital Hypomyelination

  • Hereditary Sensory Motor Neuropathy

  • Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive

  • Neuropathy, Hypomyelinating, Congenital, Type 1

  • Neuropathy, Motor And Sensory, Hereditary

  • Congenital Hypomyelinating Neuropathy

  • Hereditary Motor And Sensory Neuropathies

  • Hereditary Sensorimotor Neuropathy

  • Hmsn - [Hereditary Motor And Sensory Neuropathy]

  • Hsmn - [Hereditary Sensory And Motor Neuropathy]

  • Hereditary Motor And Sensory Neuropathy, Types I-Iv

Neuropathy
  • Peripheral Neuropathy

  • Peripheral Neuropathies

Sensory Peripheral Neuropathy
  • Sensory Neuropathy

  • Peripheral Sensory Neuropathy

  • Hereditary Sensory And Autonomic Neuropathies

Charcot-Marie-Tooth Disease, Demyelinating, Type 1d
  • Charcot-Marie-Tooth Disease Type 1d

  • CMT1D

  • Hmsn Id

  • Hmsn1d

  • Charcot-Marie-Tooth Disease, Type 1d

  • Hereditary Motor And Sensory Neuropathy 1d

  • Charcot-Marie-Tooth Neuropathy Type 1d

  • Charcot-Marie-Tooth Neuropathy, Type 1d

  • Charcot-Marie-Tooth Disease 1d

  • Charcot-Marie-Tooth Disease Demyelinating Type 1d

  • Hereditary Motor And Sensory Neuropathy Id

  • Charcot-Marie-Tooth Disease, Type Id

Peroneal Neuropathy
  • Peroneal Neuropathies

Charcot-Marie-Tooth Disease, Type 4c
  • Charcot-Marie-Tooth Disease Type 4c

  • CMT4C

  • Charcot-Marie-Tooth Neuropathy Type 4c

  • Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive, Type 4c

  • Charcot-Marie-Tooth Neuropathy, Type 4c

  • Autosomal Recessive Demyelinating Charcot-Marie-Tooth Disease Type 4c

  • Charcot-Marie-Tooth Disease 4c

  • Charcot-Marie-Tooth Disease Demyelinating Autosomal Recessive 4c

Charcot-Marie-Tooth Disease, X-Linked Recessive, 2
  • CMTX2

  • Charcot-Marie-Tooth Disease X-Linked Recessive 2

  • X-Linked Charcot-Marie-Tooth Disease Type 2

  • Charcot-Marie-Tooth Neuropathy, X-Linked Recessive, 2

  • Charcot-Marie-Tooth Neuropathy X-Linked Recessive 2

  • Charcot-Marie-Tooth Disease, X-Linked Type 2, Recessive

Charcot-Marie-Tooth Disease, Demyelinating, Type 1b
  • Charcot-Marie-Tooth Disease Type 1b

  • CMT1B

  • Hereditary Motor And Sensory Neuropathy Ib

  • Hmsn Ib

  • Hmsn1b

  • Peroneal Muscular Atrophy

  • Charcot-Marie-Tooth Disease, Type 1b

  • Charcot-Marie-Tooth Disease Slow Nerve Conduction Type Linked To Duffy

  • Charcot-Marie-Tooth Neuropathy Type 1b

  • Charcot-Marie-Tooth Disease, Type Ib

  • Hereditary Motor And Sensory Neuropathy I

  • Hmsn I

  • Hmsn1

  • Charcot-Marie-Tooth Neuropathy, Type 1b

  • Charcot-Marie-Tooth Disease, Slow Nerve Conduction Type, Linked To Duffy

  • Charcot-Marie-Tooth Disease, Autosomal Dominant, With Focally Folded Myelin Sheaths, Type 1b

  • Autosomal Dominant Charcot-Marie-Tooth Disease With Focally Folded Myelin Sheaths Type 1b

  • Charcot-Marie-Tooth Disease 1b

  • Charcot-Marie-Tooth Disease Demyelinating Type 1b

  • Hmsn Type I

  • Hereditary Motor And Sensory Neuropathy Type I

  • Charcot-Marie-Tooth Disease

Neuropathy, Hereditary Sensory And Autonomic, Type Ic
  • HSAN1C

  • Hsan Ic

  • Hsn1c

  • Hsn Ic

  • Hereditary Sensory And Autonomic Neuropathy Type 1c

  • Neuropathy, Hereditary Sensory And Autonomic, Type 1c

  • Neuropathy, Hereditary Sensory, Type Ic

  • Hereditary Sensory And Autonomic Neuropathy Type Ic

  • Neuropathy, Hereditary Sensory And Autonomic, 1c

  • Hereditary Sensory Neuropathy Type Ic

  • Neuropathy, Hereditary Sensory/Autonomic, Type Ic

  • Neuropathy, Sensory And Autonomic, Hereditary, Type Ic

Charcot-Marie-Tooth Disease, Type 4j
  • Charcot-Marie-Tooth Disease Type 4j

  • CMT4J

  • Charcot-Marie-Tooth Disease, Autosomal Recessive, Type 4j

  • Autosomal Recessive Charcot-Marie-Tooth Disease Type 4j

  • Charcot-Marie-Tooth Disease 4j

Polyneuropathy
  • Polyneuropathies

Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
  • CMTX1

  • Cmtx

  • Charcot-Marie-Tooth Disease X-Linked Dominant 1

  • Charcot-Marie-Tooth Neuropathy, X-Linked Dominant, 1

  • X-Linked Charcot-Marie-Tooth Disease

  • Charcot-Marie-Tooth Peroneal Muscular Atrophy, X-Linked

  • Cmt1x

  • X-Linked Charcot-Marie-Tooth Disease Type 1

  • X-Linked Hereditary Motor And Sensory Neuropathy

  • Hereditary Motor And Sensory Neuropathy, X-Linked

  • Hmsn, X-Linked

  • Charcot-Marie-Tooth Neuropathy, X-Linked, 1

  • Cmt2, Formerly

  • Charcot-Marie-Tooth Neuropathy X-Linked Dominant 1

  • Charcot-Marie-Tooth Neuropathy X-Linked 1

  • Charcot-Marie-Tooth Peroneal Muscular Atrophy X-Linked

  • Hereditary Motor And Sensory Neuropathy X-Linked

  • Hmsn X-Linked

  • Charcot-Marie-Tooth, X-Linked

  • Charcot-Marie-Tooth Disease, X-Linked Dominant, Type 1

  • Charcot-Marie-Tooth Disease, X-Linked, 1

Charcot-Marie-Tooth Disease, Demyelinating, Type 4f
  • Charcot-Marie-Tooth Disease Type 4f

  • CMT4F

  • Charcot-Marie-Tooth Disease, Type 4f

  • Charcot-Marie-Tooth Disease 4f

  • Charcot-Marie-Tooth Disease Demyelinating Autosomal Recessive 4f

  • Charcot-Marie-Tooth Neuropathy Type 4f

  • Dejerine-Sottas Disease

Hypertrophic Neuropathy Of Dejerine-Sottas
  • Dejerine-Sottas Disease

  • Dejerine-Sottas Syndrome

  • Charcot-Marie-Tooth Disease Type 3

  • DSS

  • Hereditary Motor And Sensory Neuropathy Type Iii

  • Hmsn3

  • Dejerine-Sottas Neuropathy

  • Hmsn Iii

  • Charcot-Marie-Tooth Disease, Type 3

  • Cmt3

  • Dsn

  • Hmsn 3

  • Hereditary Motor And Sensory Neuropathy Type 3

  • Hereditary Motor And Sensory Neuropathy 3

  • Hypertrophic Neuropathy Of Infancy

  • Charcot-Marie-Tooth Disease Demyelinating Type 4f

  • Charcot-Marie-Tooth Disease Type 4f

  • Charcot-Marie-Tooth Neuropathy Type 4f

  • Cmt4f

  • Hereditary Motor And Sensory Neuropathy Iii

  • Charcot-Marie-Tooth Disease, Demyelinating, Type 4f

Neuronopathy, Distal Hereditary Motor, Type Iic
  • HMN2C

  • Hmn Iic

  • Dhmn2c

  • Distal Hereditary Motor Neuronopathy Type 2c

  • Distal Hereditary Motor Neuropathy Type Iic

  • Neuronopathy, Distal Hereditary Motor, Type 2c

  • Neuropathy, Distal Hereditary Motor, Type Iic

  • Neuronopathy, Distal Hereditary Motor, 2c

  • Dhmn Iic

  • Neuropathy, Motor, Distal, Hereditary, Type 2c

Charcot-Marie-Tooth Disease, Type 4b1
  • Charcot-Marie-Tooth Disease Type 4b1

  • CMT4B1

  • Cmt4b

  • Charcot-Marie-Tooth Neuropathy Type 4b1

  • Charcot-Marie-Tooth Disease Type 4b

  • Charcot-Marie-Tooth Disease, Autosomal Recessive, With Focally Folded Myelin Sheaths, Autosomal Recessive, Type 4b1

  • Charcot-Marie-Tooth Neuropathy, Type 4b1

  • Charcot-Marie-Tooth Disease, Type 4b

  • Autosomal Recessive Charcot-Marie-Tooth Disease With Focally Folded Myelin Sheaths Type 4b1

  • Charcot-Marie-Tooth Disease 4b1

  • Charcot-Marie-Tooth Disease Autosomal Recessive With Focally Folded Myelin Sheaths 4b1

  • Charcot-Marie-Tooth Disease Demyelinating Autosomal Recessive 4b1

Charcot-Marie-Tooth Disease, Type 4b2
  • Charcot-Marie-Tooth Disease Type 4b2

  • CMT4B2

  • Charcot-Marie-Tooth Disease, With Focally Folded Myelin Sheaths, Autosomal Recessive, Type 4b2

  • Charcot-Marie-Tooth Neuropathy, Type 4b2

  • Charcot-Marie-Tooth Neuropathy Type 4b2

  • Autosomal Recessive Charcot-Marie-Tooth Disease With Focally Folded Myelin Sheaths Type 4b2

  • Cmt 4b2

  • Charcot Marie Tooth Disease Type 4b2

  • Charcot-Marie-Tooth Disease 4b2

  • Charcot-Marie-Tooth Disease Autosomal Recessive With Focally Folded Myelin Sheaths 4b2

  • Charcot-Marie-Tooth Disease Demyelinating Autosomal Recessive 4b2

Charcot-Marie-Tooth Disease, Dominant Intermediate B
  • CMTDIB

  • Charcot-Marie-Tooth Disease Dominant Intermediate B

  • Di-Cmtb

  • Cmtdi1

  • Autosomal Dominant Charcot-Marie-Tooth Disease Type 2m

  • Charcot-Marie-Tooth Neuropathy Dominant Intermediate B

  • CMT2M

  • Charcot-Marie-Tooth Neuropathy, Dominant Intermediate B

  • Charcot-Marie-Tooth Disease, Axonal Type 2m

  • Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease Type B

  • Charcot-Marie-Tooth Disease 2m

  • Charcot-Marie-Tooth Disease Axonal Autosomal Dominant Type 2m

  • Charcot-Marie-Tooth Disease Axonal Type 2m

  • Charcot-Marie-Tooth Neuropathy Axonal Type 2m

  • Charcot-Marie-Tooth Disease, Dominant, Intermediate Type, B

  • Charcot-Marie-Tooth Disease, Axonal, Type 2m

  • Charcot-Marie-Tooth Disease, Dominant Intermediate, Type B

Charcot-Marie-Tooth Disease, Type 4d
  • Charcot-Marie-Tooth Disease Type 4d

  • CMT4D

  • Hmsnl

  • Hmsn4d

  • Charcot-Marie-Tooth Neuropathy Type 4d

  • Hereditary Motor And Sensory Neuropathy Lom Type

  • Hmsn-Lom

  • Neuropathy, Hereditary Motor And Sensory, Lom Type

  • Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive, Type 4d

  • Charcot-Marie-Tooth Neuropathy, Type 4d

  • Autosomal Recessive Demyelinating Charcot-Marie-Tooth Disease Type 4d

  • Hmsn Lom Type

  • Hmsn, Lom Type

  • Hereditary Motor And Sensory Neuropathy, Lom Type

  • Charcot-Marie-Tooth Disease 4d

  • Charcot-Marie-Tooth Disease Demyelinating Autosomal Recessive 4d

  • Hereditary Motor And Sensory Neuropathy Ivd

  • Hmsn Ivd

Charcot-Marie-Tooth Disease Type X
Charcot-Marie-Tooth Disease, Type 4h
  • Charcot-Marie-Tooth Disease Type 4h

  • CMT4H

  • Charcot-Marie-Tooth Neuropathy Type 4h

  • Charcot-Marie-Tooth Disease, Autosomal Recessive, Type 4h

  • Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive, Type 4h

  • Charcot-Marie-Tooth Neuropathy, Type 4h

  • Autosomal Recessive Charcot-Marie-Tooth Disease Type 4h

  • Autosomal Recessive Demyelinating Charcot-Marie-Tooth Disease Type 4h

  • Charcot-Marie-Tooth Disease 4h

  • Charcot-Marie-Tooth Disease Demyelinating Autosomal Recessive 4h

Charcot-Marie-Tooth Disease, Axonal, Type 2f
  • Charcot-Marie-Tooth Disease Axonal Type 2f

  • CMT2F

  • Charcot-Marie-Tooth Disease, Neuronal, Type 2f

  • Charcot-Marie-Tooth Neuropathy, Type 2f

  • Autosomal Dominant Charcot-Marie-Tooth Disease Type 2f

  • Charcot-Marie-Tooth Neuropathy Type 2f

  • Charcot-Marie-Tooth Neuronal Type 2f

  • Charcot-Marie-Tooth Disease Type 2f

  • Cmt 2f

  • Charcot Marie Tooth Disease Type 2f

  • Charcot-Marie-Tooth Disease 2f

  • Charcot-Marie-Tooth Disease Neuronal Type 2f

  • Charcot-Marie-Tooth Disease, Type 2f

Charcot-Marie-Tooth Disease, Type 4a
  • Charcot-Marie-Tooth Disease Type 4a

  • CMT4A

  • Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive, Type 4a

  • Charcot-Marie-Tooth Neuropathy, Type 4a

  • Autosomal Recessive Demyelinating Charcot-Marie-Tooth Disease Type 4a

  • Charcot-Marie-Tooth Neuropathy Type 4a

  • Charcot-Marie-Tooth Disease 4a

  • Charcot-Marie-Tooth Disease Demyelinating Autosomal Recessive, Type 4a

  • Charcot-Marie-Tooth Disease Neuropathy Type 4a

Cortical Dysplasia, Complex, With Other Brain Malformations 6
  • Complex Cortical Dysplasia With Other Brain Malformations 6

  • CDCBM6

  • Cdcbm56

  • Dysplasia ,Cortical, Complex, With Other Brain Malformations, Type 6

Charcot-Marie-Tooth Disease, Type 4b3
  • Charcot-Marie-Tooth Disease Type 4b3

  • CMT4B3

  • Charcot-Marie-Tooth Disease With Focally Folded Myelin

  • Charcot-Marie-Tooth Disease 4b3

  • Charcot-Marie-Tooth Neuropathy Type 4b3

Charcot-Marie-Tooth Disease, Axonal, Type 2b
  • Charcot-Marie-Tooth Disease Type 2b

  • CMT2B

  • Hmsn Iib

  • Hmsn2b

  • Charcot-Marie-Tooth Disease, Type 2b

  • Hereditary Motor And Sensory Neuropathy Iib

  • Autosomal Dominant Charcot-Marie-Tooth Disease Type 2b

  • Charcot-Marie-Tooth Neuropathy Type 2b

  • Charcot-Marie-Tooth Disease, Autosomal Dominant, Type 2b

  • Charcot-Marie-Tooth Neuropathy, Type 2b

  • Hereditary Motor And Sensory Nueropathy Iib

  • Cmt 2b

  • Charcot Marie Tooth Disease Type 2b

  • Charcot-Marie-Tooth Disease, Neuronal, Type 2b

  • Hereditary Motor And Sensory Neuropathy 2 B

  • Peripheral Sensory Neuropathy, Autosomal Dominant

  • Charcot-Marie-Tooth Disease 2b

  • Charcot-Marie-Tooth Disease Axonal Type 2b

  • Charcot-Marie-Tooth Disease Neuronal Type 2b

  • Peripheral Sensory Neuropathy Autosomal Dominant

  • Psn

Friedreich Ataxia
  • Friedreich Ataxia 1

  • FRDA

  • Friedreich Ataxia With Retained Reflexes

  • Frda1

  • Fa

  • Friedreich'S Ataxia

  • Hereditary Spinal Ataxia

  • Fa1

  • Friedreich'S Tabes

  • Hereditary Spinal Sclerosis

  • Spinocerebellar Ataxia, Friedreich

  • Friedreich Spinocerebellar Ataxia

  • Friedrich'S Ataxia

Neuropathy, Hereditary Sensory And Autonomic, Type Iia
  • Hereditary Sensory And Autonomic Neuropathy Type 2

  • Hsan2

  • HSAN2A

  • Morvan Disease

  • Hereditary Sensory And Autonomic Neuropathy Type Ii

  • Neurogenic Acroosteolysis

  • Hsan Iia

  • Hsn2a

  • Hsn Iia

  • Neuropathy, Progressive Sensory, Of Children

  • Neuropathy, Congenital Sensory

  • Neuropathy, Hereditary Sensory And Autonomic, Type Ii

  • Hereditary Sensory And Autonomic Neuropathy Type 2a

  • Hereditary Sensory And Autonomic Neuropathy Type Iia

  • Hsanii

  • Congenital Sensory Neuropathy

  • Hsan Type Ii

  • Morvan Syndrome

  • Neuropathy, Hereditary Sensory And Autonomic, Type 2a

  • Morvan'S Disease

  • Neuropathy, Hereditary Sensory, Type Iia

  • Acroosteolysis, Neurogenic

  • Acroosteolysis, Giaccai Type

  • Neuropathy, Hereditary Sensory Radicular, Autosomal Recessive

  • Hereditary Sensory Autonomic Neuropathy Type 2

  • Giaccai Type Acroosteolysis

  • Hereditary Sensory Neuropathy Type 2

  • Hereditary Sensory Radicular Neuropathy, Recessive Form

  • Hsan2b

  • Hsan2c

  • Hsan2d

  • Hsn Type Ii

  • Autosomal Recessive Sensory Radicular Neuropathy

  • Limbic Encephalitis-Neuromyotonia-Hyperhidrosis-Polyneuropathy Syndrome

  • Morvan Fibrillary Chorea

  • Neuropathy, Hereditary Sensory And Autonomic, 2a

  • Acroosteolysis Giaccai Type

  • Hereditary Sensory Neuropathy Type Iia

  • Hereditary Sensory Radicular Neuropathy Autosomal Recessive

  • Progressive Sensory Neuropathy Of Children

  • Neuropathy Congenital Sensory

  • Charcot-Marie-Tooth Disease

  • Neuropathy, Sensory And Autonomic, Hereditary, Type Iia

  • Hereditary Sensory Autonomic Neuropathy, Type 2

  • Hereditary Motor And Sensory-Neuropathy Type Ii

  • Sensory Neuropathy, Hereditary

  • Neuropathy, Hereditary Sensory And Autonomic, Type Iib

Neuromuscular Disease
  • Neuromuscular Diseases

  • Neuromuscular Disorders

  • Neuromuscular Disorder

Peripheral Nervous System Disease
  • Peripheral Neuropathy

  • Peripheral Nerve Disease

  • Peripheral Nerve Disorders

  • Neuropathy, Peripheral

  • Peripheral Neuropathy Due To Vitamin Pyridoxine Hyperalimentation

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Mus musculus LITAF MGD MGI:1929512
Felis catus LITAF VGNC VGNC:107759
Rattus norvegicus LITAF RGD RGD:69294
Bos taurus LITAF VGNC VGNC:30911
Others LITAF NCBI