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Cytoskeletal defects
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Cytoskeletal
defects
Microfilaments
Myofilament
Actin
Hypertrophic cardiomyopathy 11
Dilated cardiomyopathy 1AA
DFNA20
Nemaline myopathy 3
Myosin
Elejalde syndrome
Hypertrophic cardiomyopathy 1, 8, 10
Usher syndrome 1B
Freeman–Sheldon syndrome
DFN A3, 4, 11, 17, 22; B2, 30, 37, 48
May–Hegglin anomaly
Troponin
Hypertrophic cardiomyopathy 7, 2
Nemaline myopathy 4, 5
Tropomyosin
Hypertrophic cardiomyopathy 3
Nemaline myopathy 1
Titin
Hypertrophic cardiomyopathy 9
Other
Fibrillin
Marfan syndrome
Weill–Marchesani syndrome
Filamin
FG syndrome 2
Boomerang dysplasia
Larsen syndrome
Terminal osseous dysplasia with pigmentary defects
IF
1/2
Keratinopathy
(
keratosis
,
keratoderma
,
hyperkeratosis
):
KRT1
Striate palmoplantar keratoderma 3
Epidermolytic hyperkeratosis
IHCM
KRT2E
(
Ichthyosis bullosa of Siemens
)
KRT3
(
Meesmann juvenile epithelial corneal dystrophy
)
KRT4
(
White sponge nevus
)
KRT5
(
Epidermolysis bullosa simplex
)
KRT8
(
Familial cirrhosis
)
KRT10
(
Epidermolytic hyperkeratosis
)
KRT12
(
Meesmann juvenile epithelial corneal dystrophy
)
KRT13
(
White sponge nevus
)
KRT14
(
Epidermolysis bullosa simplex
)
KRT17
(
Steatocystoma multiplex
)
KRT18
(
Familial cirrhosis
)
KRT81
/
KRT83
/
KRT86
(
Monilethrix
)
Naegeli–Franceschetti–Jadassohn syndrome
Reticular pigmented anomaly of the flexures
3
Desmin
:
Desmin-related myofibrillar myopathy
Dilated cardiomyopathy 1I
GFAP
:
Alexander disease
Peripherin
:
Amyotrophic lateral sclerosis
4
Neurofilament
:
Parkinson's disease
Charcot–Marie–Tooth disease 1F, 2E
Amyotrophic lateral sclerosis
5
Laminopathy
: LMNA
Mandibuloacral dysplasia
Dunnigan
Familial partial lipodystrophy
Emery–Dreifuss muscular dystrophy 2
Limb-girdle muscular dystrophy 1B
Charcot–Marie–Tooth disease 2B1
LMNB
Barraquer–Simons syndrome
LEMD3
Buschke–Ollendorff syndrome
Osteopoikilosis
LBR
Pelger–Huet anomaly
Hydrops-ectopic calcification-moth-eaten skeletal dysplasia
Microtubules
Kinesin
Charcot–Marie–Tooth disease 2A
Hereditary spastic paraplegia 10
Dynein
Primary ciliary dyskinesia
Short rib-polydactyly syndrome 3
Asphyxiating thoracic dysplasia 3
Other
Tauopathy
Cavernous venous malformation
Membrane
Spectrin
:
Spinocerebellar ataxia 5
Hereditary spherocytosis 2, 3
Hereditary elliptocytosis 2, 3
Ankyrin
:
Long QT syndrome 4
Hereditary spherocytosis 1
Catenin
APC
Gardner's syndrome
Familial adenomatous polyposis
plakoglobin
(
Naxos syndrome
)
GAN
(
Giant axonal neuropathy
)
Other
desmoplakin
:
Striate palmoplantar keratoderma 2
Carvajal syndrome
Arrhythmogenic right ventricular dysplasia 8
plectin
:
Epidermolysis bullosa simplex with muscular dystrophy
Epidermolysis bullosa simplex of Ogna
plakophilin
:
Skin fragility syndrome
Arrhythmogenic right ventricular dysplasia 9
centrosome
:
PCNT
(
Microcephalic osteodysplastic primordial dwarfism type II
)
Related topics:
Cytoskeletal proteins
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