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Hereditary sensory and autonomic neuropathy type 4

1 OMIM reference -
1 associated gene
37 connected diseases
9 signs/symptoms

Disease	Type of connection
Hereditary sensory and autonomic neuropathy type 5
Familial medullary thyroid carcinoma
Papillary or follicular thyroid carcinoma
Juvenile myelomonocytic leukemia
Chronic myeloid leukemia
Precursor B-cell acute lymphoblastic leukemia
Precursor T-cell acute lymphoblastic leukemia
Distal 16p11.2 microdeletion syndrome
Proximal 16p11.2 microdeletion syndrome
Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency
Amyotrophic lateral sclerosis
Autosomal agammaglobulinemia
SHORT syndrome
Autosomal dominant hypohidrotic ectodermal dysplasia
Berardinelli-Seip congenital lipodystrophy
Diffuse cutaneous systemic sclerosis
Heritable pulmonary arterial hypertension
Limited cutaneous systemic sclerosis
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation
Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis
Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
Familial idiopathic steroid-resistant nephrotic syndrome with minimal changes
Giant cell arteritis
Granulomatosis with polyangiitis
Juvenile rheumatoid factor-negative polyarthritis
Oligoarticular juvenile arthritis
Pediatric systemic lupus erythematosus
T-B+ severe combined immunodeficiency due to CD45 deficiency
Feingold syndrome type 1
Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression
Neuroblastoma
Capillary malformation - arteriovenous malformation
Parkes Weber syndrome
LEOPARD syndrome
Metachondromatosis
Noonan syndrome

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

Classification (Orphanet): - Rare genetic disease - Rare neurologic disease		Classification (ICD10): - Diseases of the nervous system -

Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal recessive		External references: 1 OMIM reference - No MeSH references

Gene symbol	UniProt reference	OMIM reference
NTRK1	P04629	191315

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