Table 1.
Connexin associated genetic diseases
| Human Disease | Clinical Manifestation | Connexin Protein |
|---|---|---|
| Myelin-related Diseases | ||
|
| ||
| X-linked Charcot-Marie-Tooth disease (CMTX) | Limb weakness; progressive demyelination of peripheral axons | Cx32 |
| Pelizaeus-Merzbacher-like disease (PMLD) | Mild peripheral neuropathy | Cx46 Cx47 |
|
| ||
| Cardiovascular disease | ||
|
| ||
| Idiopathic Atrial Fibrillation | Atrial arrhythmia and congestive heart failure | Cx40 |
| Visceroatrial heterotaxia | Heart malformations and visceral organ defects | Cx43 |
|
| ||
| Skin diseases | ||
|
| ||
| Vohwinkel Syndrome | Palmoplantar keratoderma with ichthyosis and hearing loss | Cx26 |
| Keratitis-Ichthyosis-Deafness Syndrome (KID) | Vascularizing keratitis with hyperkeratotic skin lesions and hearing loss. | Cx26 Cx30 |
| Erythrokeratoderma Variabilis (EKV) | Slow growing erythematous patches and static keratodermas; deafness w/Cx31 mutation | Cx30 Cx30.3 Cx31 |
| Clouston’s Hidrotic Ectodermal Dysplasia | Hypotrichosis, palmoplantar keratoderma, nail dystrophy, and/or hyperpigmentation | Cx30 |
| Psoriasis | Hyperproliferation of epidermal keratinocytes resulting in scaly, reddened skin patches, papules and plaques | Cx26 |
| Hystrix-like icthyosis with deafness (HID) | Severe ichthyosis and hearing loss | Cx26 |
| Bart-Pumphrey Syndrome | Hyperkeratosis over the metacarpophalangeal and proximal and distal interphalangeal joints and hearing loss | Cx26 Cx26 |
|
| ||
| Non-syndromic and syndromic deafness | Sensorineural hearing loss; and in syndromic (associated with hyperproliferative skin disorders) | Cx30 Cx31 Cx43 Cx46 |
|
| ||
| Zonular pulverulent cataracts | Congenital cataracts | Cx50 |
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| ||
| Oculodentodigital dysplasia (ODDD) | Pleiotropic developmental disorder: includes ophthalmologic, dental, craniofacial, bone and limb disorders | Cx43 |