Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Hereditary dermatological disorders

The group of hereditary dermatological disorders predominantly manifest with cutaneous symptoms.

Systematic

Hereditary diseases
Hereditary broncho-pulmonary disease
Hereditary cardiac disease
Hereditary dermatological disorders
Autoinflammation with arthritis and dyskeratosis
NLRP1
Chronic atypical neutrophilic dermatosis-lipodystrophy-elevated temperature syndrome
PSMA3
PSMB4
PSMB8
PSMB9
PSMG2
Epidermolysis bullosa
ITGB4
Familial acne inversa 1
NCSTN
Infantile-onset periodic fever-panniculitis-dermatosis syndrome
OTULIN
Interleukin 36 receptor antagonist deficiency
IL36RN
Interstitial lung disease with nephrotic syndrome and epidermolysis bullosa
ITGA3
Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome
POMP
Nephropathy with pretibial epidermolysis bullosa and deafness
CD151
Piebaldism
KIT
Pityriasis rubra pilaris
CARD14
Psoriasis 02
CARD14
Psoriasis 14
IL36RN
Psoriasis 15
AP1S3
Pyoderma gangrenosum, acne, and hidradenitis suppurativa (PASH)
NCSTN
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
PSTPIP1
Susceptibility to vitiligo-associated multiple autoimmune disease 1
NLRP1
Hereditary diseases of the hematopoetic system and coagulopathies
Hereditary endocrinological diseases
Hereditary immunological disorders
Hereditary kidney diseases
Hereditary liver disease
Hereditary malformations
Hereditary metabolic diseases
Hereditary musculoskeletal diseases
Hereditary neurological disorders
Hereditary ocular disease and visual impairment
Hereditary otorhinolaryngological disorders
Hereditary pancreatic disease
Hereditary susceptibility to infections
Hereditary tumors
Hereditary vascular disease
Hypertension
Update: May 7, 2019