ORPHA:642

Hereditary sensory and autonomic neuropathy type 4

Synonyms: CIPA · Congenital insensitivity to pain with anhidrosis · HSAN4 · Hereditary sensory and autonomic neuropathy type IV

Type: Disease
Group: Disorder
Inheritance: Autosomal recessive
Age of onset: Childhood, Infancy, Neonatal
Status: active

A rare hereditary sensory and autonomic neuropathy characterized by anhidrosis, insensitivity to pain, self-mutilating behavior and episodes of fever.

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Hereditary sensory and autonomic neuropathy type 4	CIPA · Congenital insensitivity to pain with anhidrosis · HSAN4 · Hereditary sensory and autonomic neuropathy type IV
fr	Neuropathie héréditaire sensitive et autonomique type 4	HSAN4 · ICDA · Insensibilité congénitale à la douleur avec anhidrose · NHSA4 · Neuropathie héréditaire sensitive et autonomique type IV
de	Neuropathie, autonome hereditäre sensorische, Typ 4	CIP-Anhidrose-Syndrom · HSAN4 · Neuropathie, autonome hereditäre sensorische, Typ IV · Schmerzunempfindlichkeit mit Anhidrose
es	Neuropatía sensitiva autonómica hereditaria tipo 4	HSAN4 · Neuropatía sensitiva autonómica hereditaria tipo IV · Síndrome CIP-anhidrosis · Síndrome de insensibilidad congénita al dolor-anhidrosis
it	Neuropatia sensoriale e autonoma ereditaria tipo 4
nl	Erfelijke sensorische en autonome neuropathie type 4	CIP - anhidrose-syndroom · Congenitale ongevoeligheid voor pijn - anhidrose-syndroom · Erfelijke sensorische en autonome neuropathie type IV · HSAN 4
pt	Neuropatia sensitiva e autonómica hereditária tipo 4	Insensibilidade à dor com anidrose
pl	Dziedziczna neuropatia czuciowa i autonomiczna typu 4	HSAN4 · NHSA4 · Niewrażliwość na ból - anhydroza · HSAN4 · Zespół CIP i anhydrozy · Dziedziczna neuropatia czuciowa i autonomiczna typu IV · Zespół wrodzonej niewrażliwości na ból i anhydrozy
cs	Hereditární senzorická a autonomní neuropatie IV	HSAN IV · Vrozená necitlivost pro bolest
uk	Спадкова сенсорна та вегетативна нейропатія, тип 4	CIPA · Вроджена нечутливість до болю при ангідрозі · Спадкова сенсорна та автономна нейропатія IV типу · HSAN4
zh	遗传性感觉和自主神经病4型	遗传性感觉和自主神经性神经病IV型
tr	Kalıtsal duyusal ve otonom nöropati tip 4	CIPA · HSAN4 · Anhidrozlu ağrıya doğumsal duyarsızlık · Kalıtsal duyusal ve otonom nöropati tip IV

Definition in:

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	256800	E		validated
ICD-10	G60.8	NTBT	attributed	validated
ICD-11	8C21.2	E	specific	validated
MONDO	0009746	E		validated
UMLS	C0020074	E		validated
GARD	3006	E		validated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

Classification

Preferential parent (Orphanet linearisation):

ORPHA:98006Rare neurologic disease

Parents in the classifications (2):

ORPHA:140477Autosomal recessive hereditary sensory and autonomic neuropathy
rare genetic diseases; rare neurological diseases
ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases

No children.

Genes

1 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
NTRK1	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:8031	ENSG00000198400	191315	1q23.1	neurotrophic receptor tyrosine kinase 1	20301726[PMID]

Prevalence and incidence

2 records

Type	Class	Value	Area	Qualification	Validation	Source
Point prevalence	1-9 / 1 000 000	0.14 / 100 000	Japan	Value and class	Validated	23495212[PMID]
Point prevalence	Unknown	—	Worldwide	Class only	Validated	ORPHANET

Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.

HPO phenotypes

56 annotations · validated 2020-04-24

HPO	Term (as annotated by Orphanet)	Diagnostic
Very frequent (99-80%)
HP:0003134	Abnormality of peripheral nerve conduction
HP:0000970	Anhidrosis
HP:0011136	Aplasia of the sweat glands
HP:0010829	Impaired temperature sensition
HP:0001249	Intellectual disability
HP:0002754	Osteomyelitis
HP:0007021	Pain insensitivity
HP:0002726	Recurrent Staphylococcus aureus infections
HP:0000742	Self-mutilation
Frequent (79-30%)
HP:0005368	Abnormality of humoral immunity
HP:0100491	Abnormality of lower limb joint
HP:0025615	Abscess
HP:0000987	Atypical scarring of skin
HP:0000958	Dry skin
HP:0100537	Fasciitis
HP:0001288	Gait disturbance
HP:0100725	Lichenification
HP:0012170	Nail-biting
HP:0002821	Neuropathic arthropathy
HP:0002661	Painless fractures due to injury
HP:0006480	Premature loss of teeth
HP:0001954	Recurrent fever
HP:0001328	Specific learning disability
HP:0003091	Trophic limb changes
Occasional (29-5%)
HP:0100851	Abnormal emotion/affect behavior
HP:0100712	Abnormal lumbar spine morphology
HP:0003028	Abnormality of the ankles
HP:0002270	Abnormality of the autonomic nervous system
HP:0003272	Abnormality of the hip bone
HP:0009085	Alveolar ridge overgrowth
HP:0001903	Anemia
HP:0010885	Avascular necrosis
HP:0000978	Bruising susceptibility
HP:0008000	Decreased corneal reflex
HP:0002936	Distal sensory impairment
HP:0002015	Dysphagia
HP:0011968	Feeding difficulties
HP:0004302	Functional motor deficit
HP:0001510	Growth delay
HP:0000752	Hyperactivity
HP:0100710	Impulsivity
HP:0004926	Orthostatic hypotension due to autonomic dysfunction
HP:0002100	Recurrent aspiration pneumonia
HP:0003095	Septic arthritis
HP:0000736	Short attention span
HP:0003474	Somatic sensory dysfunction
HP:0001279	Syncope
HP:0030811	Tongue pain
HP:0030757	Tooth abscess
HP:0001955	Unexplained fevers
Very rare (<4-1%)
HP:0012622	Chronic kidney disease
HP:0000559	Corneal scarring
HP:0012804	Corneal ulceration
HP:0100963	Hyperesthesia
HP:0000975	Hyperhidrosis
HP:0002045	Hypothermia

Run the differential on the 9 obligate / very frequent terms

Annotation source: 25359976[PMID]_29419974[PMID]_25744033[PMID]

Sources for this card

Orphanet page: orpha.net/en/disease/detail/642
This record as JSON: /data/d/642.json