Search Result |
Top |
| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H00951 |
Reis-Bucklers corneal dystrophy Corneal dystrophy of Bowman type I Granular corneal dystrophy type III |
... with deposition of rodlike bodies best seen with the electron microscope. Thiel-Behnke dystrophies (TBCD) share many similarities as well as some differences with RBCD. Both RBCD and TBCD are linked to ... | Nervous system disease | TGFBI [HSA:7045] [KO:K19519] | |
| H00952 |
Thiel-Behnke dystrophies Corneal dystrophy of Bowman layer type II Honeycomb corneal dystrophy Anterior limiting membrane dystrophy type II Curly fibers corneal dystrophy Waardenburg-Jonker corneal dystrophy |
Thiel-Behnke dystrophy (TBCD) is an autosomal dominant dystrophy with recurrent corneal erosions developing in the first and second decade of life. TBCD shares many similarities with Reis-Bucklers corneal ... | Nervous system disease | TGFBI [HSA:7045] [KO:K19519] | |
| H02261 |
PEBAT Early-onset progressive encephalopathy with brain atrophy and thin corpus callosum |
... intellectual disability, seizures, progressive spasticity, and early-onset cortical atrophy. Mutations in TBCD cause PEBAT. TBCD encodes one of the five co-chaperones playing a pivotal role in microtubule assembly | Nervous system disease | TBCD [HSA:6904] [KO:K21767] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |