RGDs registry under the 'Neuronal disorders'
| Disorder Name (Total=10) | Aliases | Sub-Category | Gene | Indian Reports | Link |
|---|---|---|---|---|---|
| Perineural cyst |
•Tarlov cyst |
Peripheral nerve diseases |
HEXA hexosaminidase subunit alpha |
Reports Updated as of Mar 09, 2023 |
PubMed |
| Complex regional pain syndrome |
TNF tumor necrosis factor |
Reports Updated as of Mar 09, 2023 |
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 | |
| Sturge-Weber syndrome Somatic mosaicism |
GNAQ G protein subunit alpha q |
Reports Updated as of Sep 05, 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 |
| Gaze palsy, familial horizontal, with progressive scoliosis 1 Autosomal recessive |
•HGPPS1 |
ROBO3 roundabout guidance receptor 3 |
Reports Updated as of Jan 05, 2026 |
PubMed | |
| Heterotopia, periventricular, X-linked dominant X-linked dominant |
•Heterotopia, periventricular, 1 •heterotopia, periventricular, 1, x-linked dominant •heterotopia, periventricular, ehlers-danlos variant •PVNH1 •X-linked periventricular heterotopia •Periventricular nodular heterotopia 1 •Periventricular nodular heterotopia 4 |
FLNA filamin A |
Reports Updated as of Jan 05, 2026 |
PubMed | |
| Hyperimmunoglobulin D with periodic fever X-linked dominant |
•Partial mevalonate kinase deficiency •HIDS •HIDS - hyper-igd periodic fever syndrome •Hyper-igd periodic fever syndrome •hyper-igd syndrome •hyper-immunoglobulin d periodic fever syndrome •hyperimmunoglobinemia d with recurrent fever •hyperimmunoglobulinemia d •hyperimmunoglobulinemia d syndrome •hyperimmunoglobulinemia d with periodic fever •Hyperimmunoglobulinemia d and periodic fever syndrome •Hyper IgD Syndrome •Hyperimmunoglobulinemia D with periodic fever |
Autoinflammatory diseases |
MVK mevalonate kinase |
Reports Updated as of Jan 05, 2026 |
PubMed |