Cerebral dysgenesis–neuropathy–ichthyosis–keratoderma syndrome

Cerebral dysgenesis–neuropathy–ichthyosis–keratoderma syndrome: Cerebral dysgenesis–neuropathy–ichthyosis–keratoderma syndrome

Classification and external resources

OMIM 609528

Cerebral dysgenesis–neuropathy–ichthyosis–keratoderma syndrome (also known as "CEDNIK syndrome") is a cutaneous condition caused by mutation in the SNAP29 gene.^[1]

See also

Arthrogryposis–renal dysfunction–cholestasis syndrome

List of cutaneous conditions

References

^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 1-4160-2999-0.

v · Inherited disorders of trafficking / vesicular transport proteins

Vesicle formation

lysosome/melanosome: HPS1-HPS7 (Hermansky–Pudlak syndrome) · LYST (Chédiak–Higashi syndrome) ·

COPII: SEC23A (Cranio–lenticulo–sutural dysplasia)

COG7 (CDOG IIE)
APC: AP1S2 (X-Linked mental retardation 59) · AP3B1 (Hermansky–Pudlak syndrome 2) · AP4M1 (CPSQ3)

Rab

ARL6 (BBS3)

RAB27A (Griscelli syndrome 2)
Signal transducing adaptor protein: CHM (Choroideremia) · MLPH (Griscelli syndrome 3)

Cytoskeleton

myosin: MYO5A (Griscelli syndrome 1)

microtubule: SPG4 (Hereditary spastic paraplegia 4)

kinesin: KIF5A (Hereditary spastic paraplegia 10)
spectrin: SPTBN2 (Spinocerebellar ataxia 5)

Vesicle fusion

synaptic vesicle: SNAP29 (CEDNIK syndrome) · STX11 (Hemophagocytic lymphohistiocytosis 4)

caveolae: CAV1 (Congenital generalized lipodystrophy 3) · CAV3 (Limb-girdle muscular dystrophy 2B, Long QT syndrome 9)

vacuolar protein sorting: VPS33B (ARC syndrome) · VPS13B (Cohen syndrome)
DYSF (Distal muscular dystrophy)

see also vesicular transport proteins
B structural (perx, skel, cili, mito, nucl, sclr) · DNA/RNA/protein synthesis (drep, trfc, tscr, tltn) · membrane (icha, slcr, atpa, abct, othr) · transduction (iter, csrc, itra), trfk

Categories:
Dermatology stubs
Genodermatoses

Cerebral dysgenesis–neuropathy–ichthyosis–keratoderma syndrome
Classification and external resources
OMIM	609528

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syndrome — The aggregate of symptoms and signs associated with any morbid process, and constituting together the picture of the disease. SEE ALSO: disease. [G. s., a running together, tumultuous concourse; (in med.) a concurrence of symptoms, fr. syn,… … Medical dictionary
SNAP29 — Synaptosomal associated protein, 29kDa, also known as SNAP29, is a human gene.cite web | title = Entrez Gene: SNAP29 synaptosomal associated protein, 29kDa| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene Cmd=ShowDetailView… … Wikipedia
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Cerebral dysgenesis–neuropathy–ichthyosis–keratoderma syndrome

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References

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Cerebral dysgenesis–neuropathy–ichthyosis–keratoderma syndrome

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