RGDs registry under the 'Neuronal disorders'
| Disorder Name (Total=11) | 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 | |
| Cerebral cavernous malformation Autosomal dominant |
•Famililal cerebral cavernous malformations •familial brain cavernous angioma •familial brain cavernous hemangioma •familial cerebral cavernoma •familial cerebral cavernous malformation •hereditary brain cavernous angioma •hereditary brain cavernous hemangioma •hereditary cavernous hemangioma of brain •hereditary cerebral cavernoma •hereditary cerebral cavernous malformation •Cavernous angioma, familial •Cavernous angiomatous malformations •Cavernous Hemangioma of Brain •CCM •Cerebral capillary malformations •Cerebral cavernous hemangioma (type) •Cerebral cavernous malformations |
PDCD10 programmed cell death 10 CCM2 CCM2 scaffold protein KRIT1 KRIT1 ankyrin repeat containing NOTCH3 notch receptor 3 |
Reports Updated as of Feb 10, 2026 |
PubMed | |
| Familial acute necrotizing encephalopathy Autosomal dominant |
•ADANE •Encephalopathy, acute, infection-induced, 3, susceptibility to •Encephalopathy, acute, infection-induced, susceptibility to, type 3 •Encephalopathy, acute, infection-induced, susceptibility to, 3 •Recurrent acute necrotizing encephalopathy •Susceptibility to acute necrotizing encephalopathy 1 •IIAE3 |
RANBP2 RAN binding protein 2 |
Reports Updated as of Mar 30, 2026 |
PubMed |