CIPA
MCID: HRD032
MIFTS: 37

Hereditary Sensory and Autonomic Neuropathy Iv (CIPA) malady

Neuronal diseases, Genetic diseases categories

Summaries for Hereditary Sensory and Autonomic Neuropathy Iv

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21Genetics Home Reference, 42NIH Rare Diseases, 63Wikipedia, 46OMIM, 19GeneReviews, 32MalaCards
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NIH Rare Diseases:42 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 dental staining anomaly/spotted teeth/erythrodontia, insensitivity to pain and thick skin/pachydermia/orange skin. An important gene associated with Hereditary Sensory and Autonomic Neuropathy Iv is NTRK1 (neurotrophic tyrosine kinase, receptor, type 1). Affiliated tissues include bone and 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:63 Congenital insensitivity to pain with anhidrosis (CIPA), also called hereditary sensory and autonomic... more...

Description from OMIM:46 256800

GeneReviews summary for hsan4

Aliases & Classifications for Hereditary Sensory and Autonomic Neuropathy Iv

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19GeneReviews, 42NIH Rare Diseases, 21Genetics Home Reference, 44Novoseek, 60UMLS, 20GeneTests, 46OMIM, 48Orphanet, 26ICD10 via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

48
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 42 21
hsan type iv 19 21 60
insensitivity to pain, congenital, with anhidrosis 42 46
hereditary sensory and autonomic neuropathy 4 42 20
hsan iv 19 44
hsan4 21 48
cipa 42 21
hereditary sensory and autonomic neuropathy type iv 21
hereditary sensory and autonomic neuropathy, type 4 21
hereditary sensory and autonomic neuropathy type 4 48
hereditary insensitivity to pain with anhidrosis 21
insensitivity to pain - anhidrosis 48
familial dysautonomia, type 2 42
hsan 4 42
nhsa4 48


External Ids:

OMIM46 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

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46OMIM, 48Orphanet
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Clinical features from OMIM:

256800

Clinical synopsis from OMIM:

256800

Symptoms:

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

Drugs & Therapeutics for Hereditary Sensory and Autonomic Neuropathy Iv

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

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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

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32MalaCards
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MalaCards organs/tissues related to Hereditary Sensory and Autonomic Neuropathy Iv:

32
Bone, Skin

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

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Publications for Hereditary Sensory and Autonomic Neuropathy Iv

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50PubMed
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Articles related to Hereditary Sensory and Autonomic Neuropathy Iv:

(show all 15)
idTitleAuthorsYear
1
Epidemiology of hereditary sensory and autonomic neuropathy type IV and V in Japan. (23495212)
2013
2
Hereditary sensory and autonomic neuropathy type IV and orthopaedic complications. (24070693)
2013
3
Hereditary sensory and autonomic neuropathy type IV orthopaedic complications. (19318985)
2009
4
Peripheral arthropathy in hereditary sensory and autonomic neuropathy types III and IV. (19098654)
2009
5
Novel NTRK1 mutations cause hereditary sensory and autonomic neuropathy type IV: demonstration of a founder mutation in the Turkish population. (18322713)
2008
6
Hereditary sensory and autonomic neuropathy type IV. (18705260)
2008
7
Nerve growth factor-tyrosine kinase A pathway is involved in thermoregulation and adaptation to stress: studies on patients with hereditary sensory and autonomic neuropathy type IV. (15695606)
2005
8
Hereditary sensory and autonomic neuropathy type IV. (15995280)
2005
9
The evaluation of autonomic nervous function in a patient with hereditary sensory and autonomic neuropathy type IV with novel mutations of the TRKA gene. (15534759)
2004
10
Genetics of congenital insensitivity to pain with anhidrosis (CIPA) or hereditary sensory and autonomic neuropathy type IV. Clinical, biological and molecular aspects of mutations in TRKA(NTRK1) gene encoding the receptor tyrosine kinase for nerve growth factor. (12102460)
2002
11
Cutaneous innervation in hereditary sensory and autonomic neuropathy type IV. (10891921)
2000
12
Oral manifestations of hereditary sensory and autonomic neuropathy type IV. Congenital insensitivity to pain with anhidrosis. (9798226)
1998
13
Hereditary sensory and autonomic neuropathy with anhidrosis (type IV). (9602746)
1998
14
Congenital insensitivity to pain with anhidrosis (hereditary sensory and autonomic neuropathy type IV) (7527213)
1994
15
Hereditary Sensory and Autonomic Neuropathy IV (20301726)
1993

Genetic Variations for Hereditary Sensory and Autonomic Neuropathy Iv

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Hereditary Sensory and Autonomic Neuropathy Iv:

62 (show all 12)
id Symbol AA change Variation ID 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

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

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Pathways for genes affiliated with Hereditary Sensory and Autonomic Neuropathy Iv

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Compounds for genes affiliated with Hereditary Sensory and Autonomic Neuropathy Iv

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

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Products for genes affiliated with Hereditary Sensory and Autonomic Neuropathy Iv

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  • Antibodies
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Sources for Hereditary Sensory and Autonomic Neuropathy Iv

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet