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1 OMIM reference -
1 associated gene
9 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1
1 OMIM reference -
1 associated gene
31 signs/symptoms
Hereditary sensory and autonomic neuropathy type 4
Proximal 16p11.2 microdeletion syndrome

NTRK1 SH2B1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
NTRK1
(0.86)
SH2B1



Citations in the biomedical literature:


Hereditary sensory and autonomic neuropathy type 4
NTRK1
Proximal 16p11.2 microdeletion syndrome
SH2B1



Hereditary sensory and autonomic neuropathy type 4
Proximal 16p11.2 microdeletion syndrome

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

Synonym(s):
- Proximal del(16)(p11.2)
- Proximal monosomy 16p11.2

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic 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:
Class of prevalence: 1-5 / 10 000
Average age onset: childhood
Average age of death: adult
Type of inheritance: autosomal dominant

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


COMMON
SIGNS
- Intellectual deficit / mental / psychomotor retardation / learning disability


Hereditary sensory and autonomic neuropathy type 4
Proximal 16p11.2 microdeletion syndrome

Very frequent
- Autosomal recessive inheritance
- Chronic skin infection / ulcerations / ulcers / cancrum
- Insensitivity to pain
- Osteosclerosis / osteopetrosis / bone condensation
- Psychic / behavioural troubles

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


Very frequent
- Insterstitial / subtelomeric microdeletion / deletion
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia

Frequent
- Autism / autistic disoders
- Broad forehead
- EEG anomalies
- Macrocephaly / macrocrania / megalocephaly / megacephaly
- Mid-facial hypoplasia / short / small midface
- Seizures / epilepsy / absences / spasms / status epilepticus

Occasional
- Anophthalmos / anophthalmia / microphthalmos / microphthalmia
- Aortic valve anomaly / incompetence / insufficiency / regurgitation / bicuspid
- Atrial septal defect / interauricular communication
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Coloboma of the optic nerve
- Diaphragmatic hernia / defect / agenesis
- Dilated cerebral ventricles without hydrocephaly
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Gastric / pyloric stenosis
- Gastroesophageal reflux / pyrosis / esophagitis / hiatal hernia / gastroparesia
- Generalized obesity
- Hyperactivity / attention deficit
- Hypertelorism
- Hypotonia
- Micrognathia / retrognathia / micrognathism / retrognathism
- Myopia
- Psychosis / schizophrenia / maniac disorder
- Scoliosis
- Strabismus / squint
- Syringomelia
- Upper limb polydactyly / hexadactyly
- Vertebral segmentation anomaly / hemivertebrae