RGDs registry under the 'Neuronal disorders'
| Disorder Name (Total=7) | Aliases | Sub-Category | Gene | Indian Reports | Link |
|---|---|---|---|---|---|
| Complex regional pain syndrome |
- |
TNF tumor necrosis factor |
Reports Updated as of Mar 09, 2023 |
PubMed | |
| Encephalocraniocutaneous lipomatosis Somatic mosaicism |
•Haberland syndrome |
- |
FGFR1 fibroblast growth factor receptor 1 |
Reports Updated as of Dec 07, 2023 |
PubMed |
| Hereditary insensitivity to pain with anhidrosis Autosomal recessive |
•Hereditary sensory and autonomic neuropathy type 4 •CIP-anhidrosis syndrome •HSAN4 •congenital insensitivity to pain with anhidrosis •congenital insensitivity to pain-anhidrosis syndrome •hereditary sensory and autonomic neuropathy caused by mutation in NTRK1 •hereditary sensory and autonomic neuropathy type iv •hereditary sensory neuropathy type IV •insensitivity to pain, congenital, with anhidrosis •NTRK1 hereditary sensory and autonomic neuropathy •Familial dysautonomia, type 2 •Neuropathy, congenital sensory, with anhidrosis |
Peripheral neuropathy |
NTRK1 neurotrophic receptor tyrosine kinase 1 |
Reports Updated as of Feb 01, 2025 |
PubMed |
| Moyamoya disease Autosomal dominant, Autosomal recessive, X-linked dominant |
Cerebrovascular diseases |
ACTA2 actin alpha 2, smooth muscle RNF213 ring finger protein 213 GUCY1A1 guanylate cyclase 1 soluble subunit alpha 1 ANO1 anoctamin 1 |
Reports Updated as of Mar 09, 2023 |
PubMed | |
| Myalgic encephalomyelitis |
•Fatigue syndrome •Myalgic encephalomeyelitis/chronic fatigue syndrome |
- |
TRPM3 transient receptor potential cation channel subfamily M member 3 |
Reports Updated as of Sep 05, 2023 |
PubMed |
| Perineural cyst |
•Tarlov cyst |
Peripheral nerve diseases |
HEXA hexosaminidase subunit alpha |
Reports Updated as of Mar 09, 2023 |
PubMed |
| Sturge-Weber syndrome Somatic mosaicism |
- |
GNAQ G protein subunit alpha q |
Reports Updated as of Sep 05, 2023 |
PubMed |