Phenotype: Impaired pain sensation (HP:0007328)
Associated genes and diseases:
gene_symbol: HDAC4
disease_id: OMIM:600430
disease_name: CHROMOSOME 2q37 DELETION SYNDROME
gene_symbol: EBF3
disease_id: OMIM:617330
disease_name: HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME
gene_symbol: NGLY1
disease_id: OMIM:615273
disease_name: CONGENITAL DISORDER OF DEGLYCOSYLATION
gene_symbol: KDM5C
disease_id: OMIM:300534
disease_name: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE
gene_symbol: GRIA3
disease_id: ORPHA:364028
disease_name: X-linked intellectual disability due to GRIA3 mutations
gene_symbol: CLTCL1
disease_id: ORPHA:453510
disease_name: Congenital insensitivity to pain with severe intellectual disability
Congenital absence of pain with severe intellectual disability
Congenital analgesia with severe intellectual disability
Congenital insensitivity to pain with preserved temperature sensation
Congenital insensitivity to pain with severe non-progressive cognitive delay
gene_symbol: IARS2
disease_id: OMIM:616007
disease_name: CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA
gene_symbol: ZFHX2
disease_id: OMIM:147430
disease_name: MARSILI SYNDROME
gene_symbol: TRIO
disease_id: OMIM:618825
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 63, WITH MACROCEPHALY
gene_symbol: TRIO
disease_id: OMIM:617061
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 44, WITH MICROCEPHALY
gene_symbol: NTRK1
disease_id: ORPHA:64752
disease_name: Hereditary sensory and autonomic neuropathy type 5
CIP
Congenital insensitivity to pain and thermal analgesia
HSAN5
Hereditary sensory and autonomic neuropathy type V
gene_symbol: NTRK1
disease_id: ORPHA:642
disease_name: Hereditary sensory and autonomic neuropathy type 4
CIPA
Congenital insensitivity to pain with anhidrosis
HSAN4
Hereditary sensory and autonomic neuropathy type IV
gene_symbol: NTRK1
disease_id: OMIM:256800
disease_name: INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS
gene_symbol: PRDM12
disease_id: OMIM:616488
disease_name: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VIII
gene_symbol: DNM1L
disease_id: OMIM:614388
disease_name: ENCEPHALOPATHY DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 1
gene_symbol: MPV17
disease_id: OMIM:256810
disease_name: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE)
gene_symbol: CACNA2D1
disease_id: OMIM:620149
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 110
gene_symbol: TRPM3
disease_id: OMIM:620224
disease_name: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, DYSMORPHIC FACIES, AND SKELETAL ANOMALIES, WITH OR WITHOUT SEIZURES
gene_symbol: TDP1
disease_id: ORPHA:94124
disease_name: Spinocerebellar ataxia with axonal neuropathy type 1
SCAN1
gene_symbol: DDHD1
disease_id: ORPHA:101008
disease_name: Autosomal recessive spastic paraplegia type 28
SPG28
gene_symbol: TMEM218
disease_id: OMIM:619562
disease_name: JOUBERT SYNDROME 39
gene_symbol: SCN11A
disease_id: OMIM:615548
disease_name: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VII
gene_symbol: SNUPN
disease_id: OMIM:620793
disease_name: OMIM:620793
gene_symbol: RFX7
disease_id: OMIM:620330
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 71, WITH BEHAVIORAL ABNORMALITIES
gene_symbol: SPTLC1
disease_id: ORPHA:36386
disease_name: Hereditary sensory and autonomic neuropathy type 1
HSAN1
Hereditary sensory and autonomic neuropathy type I
gene_symbol: ATL1
disease_id: ORPHA:36386
disease_name: Hereditary sensory and autonomic neuropathy type 1
HSAN1
Hereditary sensory and autonomic neuropathy type I
gene_symbol: AIFM1
disease_id: ORPHA:101078
disease_name: X-linked Charcot-Marie-Tooth disease type 4
CMT4X
CMTX4
Cowchock syndrome
gene_symbol: PNPT1
disease_id: ORPHA:101111
disease_name: Spinocerebellar ataxia type 25
SCA25
gene_symbol: PNPT1
disease_id: OMIM:608703
disease_name: SPINOCEREBELLAR ATAXIA 25
gene_symbol: ATL3
disease_id: OMIM:615632
disease_name: NEUROPATHY, HEREDITARY SENSORY, TYPE IF
gene_symbol: ELP1
disease_id: ORPHA:1764
disease_name: Familial dysautonomia
HSAN3
Hereditary sensory and autonomic neuropathy type 3
Hereditary sensory and autonomic neuropathy type III
Riley-Day syndrome
gene_symbol: CCT5
disease_id: ORPHA:139578
disease_name: Mutilating hereditary sensory neuropathy with spastic paraplegia
Mutilating HSAN with spastic paraplegia
gene_symbol: VCP
disease_id: ORPHA:435387
disease_name: Autosomal dominant Charcot-Marie-Tooth disease type 2Y
Autosomal dominant Charcot-Marie-Tooth disease type 2 due to VCP mutation
CMT2 due to VCP mutation
CMT2Y
gene_symbol: LMX1B
disease_id: ORPHA:2614
disease_name: Nail-patella syndrome
Onychoosteodysplasia
Turner-Kieser syndrome
gene_symbol: ABCA1
disease_id: OMIM:205400
disease_name: TANGIER DISEASE
gene_symbol: PDK3
disease_id: OMIM:300905
disease_name: CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 6
gene_symbol: SCN9A
disease_id: OMIM:167400
disease_name: PAROXYSMAL EXTREME PAIN DISORDER
gene_symbol: NGF
disease_id: OMIM:608654
disease_name: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V
gene_symbol: NEFL
disease_id: OMIM:607684
disease_name: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E
gene_symbol: NEFL
disease_id: ORPHA:101085
disease_name: Charcot-Marie-Tooth disease type 1F
CMT1F
gene_symbol: SHANK3
disease_id: OMIM:606232
disease_name: PHELAN-MCDERMID SYNDROME
gene_symbol: GJB1
disease_id: ORPHA:101075
disease_name: X-linked Charcot-Marie-Tooth disease type 1
CMT1X
CMTX1
gene_symbol: SNORD116-1
disease_id: OMIM:176270
disease_name: PRADER-WILLI SYNDROME
gene_symbol: HERC2
disease_id: OMIM:176270
disease_name: PRADER-WILLI SYNDROME
gene_symbol: NPAP1
disease_id: OMIM:176270
disease_name: PRADER-WILLI SYNDROME
gene_symbol: SNORD115-1
disease_id: OMIM:176270
disease_name: PRADER-WILLI SYNDROME
gene_symbol: MAGEL2
disease_id: OMIM:176270
disease_name: PRADER-WILLI SYNDROME
gene_symbol: MKRN3
disease_id: OMIM:176270
disease_name: PRADER-WILLI SYNDROME
gene_symbol: PWAR1
disease_id: OMIM:176270
disease_name: PRADER-WILLI SYNDROME
gene_symbol: IPW
disease_id: OMIM:176270
disease_name: PRADER-WILLI SYNDROME
gene_symbol: PWRN1
disease_id: OMIM:176270
disease_name: PRADER-WILLI SYNDROME
gene_symbol: UBTF
disease_id: ORPHA:500180
disease_name: Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder
gene_symbol: HNRNPK
disease_id: ORPHA:453504
disease_name: Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation
gene_symbol: HNRNPK
disease_id: ORPHA:352665
disease_name: Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion
9q21.3 microdeletion syndrome
Del(9)(q21.3)
gene_symbol: ZEB2
disease_id: ORPHA:261537
disease_name: Mowat-Wilson syndrome due to monosomy 2q22
Hirschsprung disease and intellectual disability due to 2q22 microdeletion
Hirschsprung disease and intellectual disability due to del(2)(q22)
Hirschsprung disease and intellectual disability due to monosomy 2q22
Mowat-Wilson syndrome due to 2q22 microdeletion
Mowat-Wilson syndrome due to del(2)q(22)
gene_symbol: ZEB2
disease_id: ORPHA:261552
disease_name: Mowat-Wilson syndrome due to a ZEB2 point mutation
Hirschsprung disease and intellectual disability due to a ZEB2 point mutation
gene_symbol: PRPS1
disease_id: ORPHA:99014
disease_name: X-linked Charcot-Marie-Tooth disease type 5
CMT5X
CMTX5
gene_symbol: CDKL5
disease_id: ORPHA:3095
disease_name: Atypical Rett syndrome
Atypical RTT
Rett syndrome variant
gene_symbol: CDKL5
disease_id: ORPHA:505652
disease_name: CDKL5-deficiency disorder
CDD
gene_symbol: NTNG1
disease_id: ORPHA:3095
disease_name: Atypical Rett syndrome
Atypical RTT
Rett syndrome variant
gene_symbol: GABBR2
disease_id: ORPHA:3095
disease_name: Atypical Rett syndrome
Atypical RTT
Rett syndrome variant
gene_symbol: MECP2
disease_id: ORPHA:3095
disease_name: Atypical Rett syndrome
Atypical RTT
Rett syndrome variant
gene_symbol: SMC1A
disease_id: ORPHA:3095
disease_name: Atypical Rett syndrome
Atypical RTT
Rett syndrome variant
gene_symbol: MADD
disease_id: OMIM:619004
disease_name: DEEAH SYNDROME
gene_symbol: MADD
disease_id: OMIM:619005
disease_name: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA
gene_symbol: PMP2
disease_id: OMIM:618279
disease_name: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1G
gene_symbol: PDXK
disease_id: OMIM:618511
disease_name: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIC, WITH OPTIC ATROPHY
gene_symbol: CHAMP1
disease_id: OMIM:616579
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 40
gene_symbol: SORD
disease_id: OMIM:618912
disease_name: SORBITOL DEHYDROGENASE DEFICIENCY WITH PERIPHERAL NEUROPATHY
gene_symbol: HARS1
disease_id: ORPHA:488333
disease_name: Autosomal dominant Charcot-Marie-Tooth disease type 2W
Autosomal dominant Charcot-Marie-Tooth disease type 2 due to HARS mutation
CMT2W
gene_symbol: FLII
disease_id: ORPHA:819
disease_name: Smith-Magenis syndrome
17p11.2 microdeletion syndrome
gene_symbol: IQSEC2
disease_id: ORPHA:819
disease_name: Smith-Magenis syndrome
17p11.2 microdeletion syndrome
gene_symbol: RAI1
disease_id: ORPHA:819
disease_name: Smith-Magenis syndrome
17p11.2 microdeletion syndrome
gene_symbol: RAI1
disease_id: OMIM:182290
disease_name: SMITH-MAGENIS SYNDROME
gene_symbol: DEAF1
disease_id: ORPHA:819
disease_name: Smith-Magenis syndrome
17p11.2 microdeletion syndrome
gene_symbol: IGF2
disease_id: ORPHA:2128
disease_name: Isolated hemihyperplasia
Hemi 3 syndrome
Hemicorporal hypertrophy
Isolated hemihypertrophy
gene_symbol: KCNQ1OT1
disease_id: ORPHA:2128
disease_name: Isolated hemihyperplasia
Hemi 3 syndrome
Hemicorporal hypertrophy
Isolated hemihypertrophy
gene_symbol: H19
disease_id: ORPHA:2128
disease_name: Isolated hemihyperplasia
Hemi 3 syndrome
Hemicorporal hypertrophy
Isolated hemihypertrophy
gene_symbol: GDAP1
disease_id: OMIM:607706
disease_name: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, WITH VOCAL CORD PARESIS, AUTOSOMAL RECESSIVE
gene_symbol: GDAP1
disease_id: ORPHA:101097
disease_name: Autosomal recessive Charcot-Marie-Tooth disease with hoarseness
ARCMT2K
Autosomal recessive axonal CMT4C4
Autosomal recessive axonal Charcot-Marie-Tooth disease type 2K
gene_symbol: GDAP1
disease_id: ORPHA:99948
disease_name: Charcot-Marie-Tooth disease type 4A
CMT4A
gene_symbol: MCM3AP
disease_id: OMIM:618124
disease_name: PERIPHERAL NEUROPATHY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT
gene_symbol: JAG1
disease_id: OMIM:619574
disease_name: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2HH
gene_symbol: LIFR
disease_id: ORPHA:3206
disease_name: Stüve-Wiedemann syndrome
Neonatal Schwartz-Jampel syndrome
SJS2
STWS
SWS
Schwartz-Jampel syndrome type 2
Stüve-Wiedemann dysplasia
Stüve-Wiedemann syndrome type 1
gene_symbol: LIFR
disease_id: OMIM:601559
disease_name: STUVE-WIEDEMANN SYNDROME
gene_symbol: FBN1
disease_id: ORPHA:2833
disease_name: Stiff skin syndrome
gene_symbol: HK1
disease_id: ORPHA:99953
disease_name: Charcot-Marie-Tooth disease type 4G
CMT4G
HMSNR
Hereditary motor and sensory neuropathy, Russe Type
gene_symbol: GNB4
disease_id: OMIM:615185
disease_name: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE F
gene_symbol: SPTLC2
disease_id: OMIM:613640
disease_name: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC
gene_symbol: RFC1
disease_id: OMIM:614575
disease_name: CEREBELLAR ATAXIA, NEUROPATHY, AND VESTIBULAR AREFLEXIA SYNDROME
gene_symbol: SH3TC2
disease_id: ORPHA:99949
disease_name: Charcot-Marie-Tooth disease type 4C
CMT4C
gene_symbol: SCYL1
disease_id: OMIM:616719
disease_name: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 21
gene_symbol: MFN2
disease_id: ORPHA:99947
disease_name: Autosomal dominant Charcot-Marie-Tooth disease type 2A2
CMT2A2
gene_symbol: HSPB1
disease_id: ORPHA:99940
disease_name: Autosomal dominant Charcot-Marie-Tooth disease type 2F
CMT2F
gene_symbol: ATXN1
disease_id: OMIM:164400
disease_name: SPINOCEREBELLAR ATAXIA 1
gene_symbol: PMP22
disease_id: ORPHA:3115
disease_name: Roussy-Lévy syndrome
Hereditary areflexic dystasia, Roussy-Lévy type
gene_symbol: MPZ
disease_id: ORPHA:3115
disease_name: Roussy-Lévy syndrome
Hereditary areflexic dystasia, Roussy-Lévy type