Mandibuloacral dysplasia

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Mandibuloacral dysplasia
Classification and external resources
OMIM	248370
DiseasesDB	33029

Mandibuloacral dysplasia is a rare autosomal recessive syndrome characterized by mandibular hypoplasia, delayed cranial suture closure, dysplastic clavicals, abbreviated and club-shaped terminal phalanges, acroosteolysis, atrophy of the skin of the hands and feet, and typical facial changes.^[1]^:576

Types include:

Type	OMIM	Gene	Locus
MADA	248370	LMNA	1q21.2
MADB	608612	ZMPSTE24	1p34

References

↑ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0-7216-2921-0.

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

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

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

centrosome: PCNT (Microcephalic osteodysplastic primordial dwarfism type II)

See also: cytoskeletal 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

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