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1 OMIM reference -
1 associated gene
9 signs/symptoms
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Hereditary sensory and autonomic neuropathy type 4
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia

NTRK1 CBL


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
NTRK1
(0.72)
CBL



Citations in the biomedical literature:


Hereditary sensory and autonomic neuropathy type 4
NTRK1
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
CBL



Hereditary sensory and autonomic neuropathy type 4
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia

Synonym(s):
- HSAN4
- Insensitivity to pain - anhidrosis
- NHSA4

Synonym(s):
- CBL syndrome
- Noonan syndrome-like disorder with JMML

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare cardiac disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare oncologic disease

Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
Epidemiological data:
(no data available)

External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
No MeSH references

Hereditary sensory and autonomic neuropathy type 4

Very frequent
- Autosomal recessive inheritance
- Chronic skin infection / ulcerations / ulcers / cancrum
- Insensitivity to pain
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Osteosclerosis / osteopetrosis / bone condensation
- Psychic / behavioural troubles

Occasional
- Dental staining anomaly / spotted teeth / erythrodontia
- Thick skin / pachydermia / orange skin
- Tight skin / lack of elasticity


Noonan syndrome-like disorder with juvenile myelomonocytic leukemia

(no data available)