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Hereditary sensory and autonomic neuropathy type 5
1 OMIM reference -
2 associated genes
44 connected diseases
No signs/symptoms info
Disease Type of connection
Familial medullary thyroid carcinoma
Hereditary sensory and autonomic neuropathy type 4
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
Hypoplasminogenemia
Ligneous conjunctivitis
Parkes Weber syndrome
LEOPARD syndrome
Metachondromatosis
Noonan syndrome
Alpha-crystallinopathy
Familial isolated dilated cardiomyopathy
Fatal infantile hypertonic myofibrillar myopathy
Posterior polar cataract
Zonular cataract
Synonym(s):
- Congenital insensitivity to pain and thermal analgesia
- HSAN5
- NHSA5
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Diseases of the nervous system -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
1 MeSH reference: D000699
Gene symbol UniProt reference OMIM reference
NGF P01138162030
NTRK1 P04629191315
No signs/symptoms info available.