CIPA
MCID: HRD032
MIFTS: 22

Hereditary Sensory and Autonomic Neuropathy Iv (CIPA) malady

Neuronal, Genetic categories

Summaries for Hereditary Sensory and Autonomic Neuropathy Iv

Sources:
21Genetics Home Reference, 43NIH Rare Diseases, 64Wikipedia, 47OMIM, 19GeneReviews, 33MalaCards
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NIH Rare Diseases:43 Congenital insensitivity to pain with anhidrosis (cipa) is an inherited condition characterized by the inability to feel pain and temperature and decreased or absent sweating (anhidrosis). the signs and symptoms of cipa usually appear at birth or during infancy. people with cipa may also heal slowly from skin and bone injuries, which can lead to chronic bone infections (osteomyelitis) or a condition called charcot joints, where the bones and tissue surrounding joints are destroyed. absent sweating can cause recurrent, extremely high fevers (hyperpyrexia) and seizures brought on by high temperature (febrile seizures). cipa is caused by mutations in the ntrk1 gene and is inherited in an autosomal recessive pattern. last updated: 11/9/2011

MalaCards: Hereditary Sensory and Autonomic Neuropathy Iv, also known as congenital insensitivity to pain with anhidrosis, is related to anhidrosis and pain disorder, and has symptoms including autosomal recessive inheritance, intellectual deficit/mental/psychomotor retardation/learning disability and psychic/behavioural troubles. An important gene associated with Hereditary Sensory and Autonomic Neuropathy Iv is NTRK1 (neurotrophic tyrosine kinase, receptor, type 1). Affiliated tissues include skin.

Genetics Home Reference:21 Congenital insensitivity to pain with anhidrosis (CIPA) has two characteristic features: the inability to feel pain and temperature, and decreased or absent sweating (anhidrosis). This condition is also known as hereditary sensory and autonomic neuropathy type IV. The signs and symptoms of CIPA appear early, usually at birth or during infancy, but with careful medical attention, affected individuals can live into adulthood.

Wikipedia:64 Congenital insensitivity to pain with anhidrosis (CIPA), also called hereditary sensory and autonomic... more...

Description from OMIM:47 256800

GeneReviews summary for hsan4

Aliases & Classifications for Hereditary Sensory and Autonomic Neuropathy Iv

Sources:
19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 47OMIM, 45Novoseek, 49Orphanet, 61UMLS, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic
Anatomical: Neuronal


Characteristics (Orphanet epidemiological data):

49
hsan4:
Inheritance: Autosomal recessive; Age of onset: Neonatal/infancy


Aliases & Descriptions:

hereditary sensory and autonomic neuropathy iv 19
congenital insensitivity to pain with anhidrosis 19 43 21
hsan type iv 19 21 61
insensitivity to pain, congenital, with anhidrosis 43 47
hereditary sensory and autonomic neuropathy 4 43 20
hsan iv 19 45
hsan4 21 49
cipa 43 21
hereditary sensory and autonomic neuropathy type iv 21
hereditary sensory and autonomic neuropathy, type 4 21
hereditary sensory and autonomic neuropathy type 4 49
hereditary insensitivity to pain with anhidrosis 21
insensitivity to pain - anhidrosis 49
familial dysautonomia, type 2 43
hsan 4 43
nhsa4 49


External Ids:

OMIM47 256800
ICD10 via Orphanet26 G60.8

Related Diseases for Hereditary Sensory and Autonomic Neuropathy Iv

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17GeneCards, 18GeneDecks
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Graphical network of diseases related to Hereditary Sensory and Autonomic Neuropathy Iv:



Diseases related to hereditary sensory and autonomic neuropathy iv

Clinical Features for Hereditary Sensory and Autonomic Neuropathy Iv

Sources:
47OMIM, 49Orphanet
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Clinical features from OMIM:

256800

Clinical synopsis from OMIM:

256800

Symptoms:

49 (show all 9)
  • autosomal recessive inheritance
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • psychic/behavioural troubles
  • osteosclerosis/osteopetrosis/bone condensation
  • chronic skin infection/ulcerations/ulcers/cancrum
  • tight skin/lack of elasticity
  • thick skin/pachydermia/orange skin
  • insensitivity to pain
  • dental staining anomaly/spotted teeth/erythrodontia

Drugs & Therapeutics for Hereditary Sensory and Autonomic Neuropathy Iv

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Hereditary Sensory and Autonomic Neuropathy Iv

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20GeneTests
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Genetic tests related to Hereditary Sensory and Autonomic Neuropathy Iv:

id Genetic test Affiliating Genes
1 Hereditary Sensory And Autonomic Neuropathy Type Iv20 NTRK1

Anatomical Context for Hereditary Sensory and Autonomic Neuropathy Iv

Sources:
33MalaCards
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MalaCards organs/tissues related to Hereditary Sensory and Autonomic Neuropathy Iv:

33
Skin

Animal Models for Hereditary Sensory and Autonomic Neuropathy Iv or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Hereditary Sensory and Autonomic Neuropathy Iv

Genetic Variations for Hereditary Sensory and Autonomic Neuropathy Iv

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Hereditary Sensory and Autonomic Neuropathy Iv:

63 (show all 12)
id Symbol AA change Variation SNP ID
1NTRK1p.Gly577ArgVAR_004103
2NTRK1p.Leu93ProVAR_009624
3NTRK1p.Leu213ProVAR_009625
4NTRK1p.Gly522ArgVAR_009626
5NTRK1p.Met587ValVAR_009627
6NTRK1p.Arg649TrpVAR_009630
7NTRK1p.Arg654CysVAR_009631
8NTRK1p.Pro695LeuVAR_009633
9NTRK1p.Gly714SerVAR_009634
10NTRK1p.Arg780ProVAR_009635rs35669708
11NTRK1p.Tyr359CysVAR_068481
12NTRK1p.Glu492LysVAR_068482

Expression for genes affiliated with Hereditary Sensory and Autonomic Neuropathy Iv

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Hereditary Sensory and Autonomic Neuropathy Iv

Search GEO for disease gene expression data for Hereditary Sensory and Autonomic Neuropathy Iv.

Pathways for genes affiliated with Hereditary Sensory and Autonomic Neuropathy Iv

Compounds for genes affiliated with Hereditary Sensory and Autonomic Neuropathy Iv

GO Terms for genes affiliated with Hereditary Sensory and Autonomic Neuropathy Iv

Products for genes affiliated with Hereditary Sensory and Autonomic Neuropathy Iv

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Sources for Hereditary Sensory and Autonomic Neuropathy Iv

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet