Phenotype: Pain insensitivity (HP:0007021)
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: RAI1
disease_id: OMIM:182290
disease_name: SMITH-MAGENIS SYNDROME
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: NGF
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: NGF
disease_id: OMIM:608654
disease_name: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V
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: MECP2
disease_id: OMIM:300260
disease_name: LUBS X-LINKED MENTAL RETARDATION SYNDROME
gene_symbol: DDHD1
disease_id: ORPHA:101008
disease_name: Autosomal recessive spastic paraplegia type 28
SPG28
gene_symbol: SCN9A
disease_id: OMIM:243000
disease_name: INDIFFERENCE TO PAIN, CONGENITAL, AUTOSOMAL RECESSIVE
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: DEAF1
disease_id: OMIM:615828
disease_name: VULTO-VAN SILFHOUT-DE VRIES SYNDROME
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: ATL3
disease_id: ORPHA:36386
disease_name: Hereditary sensory and autonomic neuropathy type 1
HSAN1
Hereditary sensory and autonomic neuropathy type I
gene_symbol: SPTLC2
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