Familial partial lipodystrophy

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Familial partial lipodystrophy (also known as "Köbberling–Dunnigan syndrome"^[1]) is an autosomal dominant skin condition characterized by the loss of subcutaneous fat.^[2]^:495

OMIM	Name	Locus
608600	FPLD1 (Kobberling-type, loss from extremities)	?
151660	FPLD2 (Dunnigan-type, loss from limbs and trunk)	LMNA; 1q21.2
604367	FPLD3	PPARG; 7q11.23-q21.11, 3p25

Type 1 is believed to be underdiagnosed.^[3]

References

↑ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. pp. 1541–2, 1543. ISBN 1-4160-2999-0.
↑ James, William D.; Berger, Timothy G.; et al. (2006). Andrews' Diseases of the Skin: clinical Dermatology. Saunders Elsevier. ISBN 0-7216-2921-0.
↑ Herbst KL, Tannock LR, Deeb SS, Purnell JQ, Brunzell JD, Chait A (June 2003). "Köbberling type of familial partial lipodystrophy: an underrecognized syndrome". Diabetes Care 26 (6): 1819–24. doi:10.2337/diacare.26.6.1819. PMID 12766116.

Disorders of subcutaneous fat (M79.3, 729.3)

Panniculitis

Lobular	without vasculitis Cold Cytophagic histiocytic Factitial Gouty Pancreatic Traumatic needle-shaped clefts Subcutaneous fat necrosis of the newborn Sclerema neonatorum Post-steroid panniculitis Lipodermatosclerosis Weber–Christian disease Lupus erythematosus panniculitis Sclerosing lipogranuloma with vasculitis: Nodular vasculitis/Erythema induratum

Septal	without vasculitis: Alpha-1 antitrypsin deficiency panniculitis Erythema nodosum Acute Chronic with vasculitis: Superficial thrombophlebitis

Lipodystrophy

Acquired	generalized: Acquired generalized lipodystrophy partial: Acquired partial lipodystrophy Centrifugal abdominal lipodystrophy HIV-associated lipodystrophy Lipoatrophia annularis localized: Localized lipodystrophy

Congenital	Congenital generalized lipodystrophy Familial partial lipodystrophy Poland's syndrome

M: INT, SF, LCT

anat/phys/devp

noco (i/b/d/q/u/r/p/m/k/v/f)/cong/tumr (n/e/d), sysi/epon

proc, drug (D2/3/4/5/8/11)

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

v t e Genetic disorder, protein biosynthesis: Transcription factor/coregulator deficiencies

(1) Basic domains	1.2: Feingold syndrome · Saethre–Chotzen syndrome 1.3: Tietz syndrome

(2) Zinc finger DNA-binding domains	2.1 (Intracellular receptor): Thyroid hormone resistance · Androgen insensitivity syndrome (PAIS, MAIS, CAIS) · Kennedy's disease · PHA1AD pseudohypoaldosteronism · Estrogen insensitivity syndrome · X-linked adrenal hypoplasia congenita · MODY 1 · Familial partial lipodystrophy 3 · SF1 XY gonadal dysgenesis 2.2: Barakat syndrome · Tricho–rhino–phalangeal syndrome 2.3: Greig cephalopolysyndactyly syndrome/Pallister–Hall syndrome · Denys–Drash syndrome · Duane-radial ray syndrome · MODY 7 · MRX 89 · Townes–Brocks syndrome · Acrocallosal syndrome · Myotonic dystrophy 2 2.5: Autoimmune polyendocrine syndrome type 1

(3) Helix-turn-helix domains	3.1: ARX (Ohtahara syndrome, Lissencephaly X2) · HLXB9 (Currarino syndrome) · HOXD13 (SPD1 Synpolydactyly) · IPF1 (MODY 4) · LMX1B (Nail–patella syndrome) · MSX1 (Tooth and nail syndrome, OFC5) · PITX2 (Axenfeld syndrome 1) · POU4F3 (DFNA15) · POU3F4 (DFNX2) · ZEB1 (Posterior polymorphous corneal dystrophy 3, Fuchs' dystrophy 3) · ZEB2 (Mowat–Wilson syndrome) 3.2: PAX2 (Papillorenal syndrome) · PAX3 (Waardenburg syndrome 1&3) · PAX4 (MODY 9) · PAX6 (Gillespie syndrome, Coloboma of optic nerve) · PAX8 (Congenital hypothyroidism 2) · PAX9 (STHAG3) 3.3: FOXC1 (Axenfeld syndrome 3, Iridogoniodysgenesis, dominant type) · FOXC2 (Lymphedema–distichiasis syndrome) · FOXE1 (Bamforth–Lazarus syndrome) · FOXE3 (Anterior segment mesenchymal dysgenesis) · FOXF1 (ACD/MPV) · FOXI1 (Enlarged vestibular aqueduct) · FOXL2 (Premature ovarian failure 3) · FOXP3 (IPEX) 3.5: IRF6 (Van der Woude syndrome, Popliteal pterygium syndrome)

(4) β-Scaffold factors with minor groove contacts	4.2: Hyperimmunoglobulin E syndrome 4.3: Holt–Oram syndrome · Li–Fraumeni syndrome · Ulnar–mammary syndrome 4.7: Campomelic dysplasia · MODY 3 · MODY 5 · SF1 (SRY XY gonadal dysgenesis, Premature ovarian failure 7) · SOX10 (Waardenburg syndrome 4c, Yemenite deaf-blind hypopigmentation syndrome) 4.11: Cleidocranial dysostosis

(0) Other transcription factors	0.6: Kabuki syndrome

Ungrouped	TCF4 (Pitt–Hopkins syndrome) · ZFP57 (TNDM1) · TP63 (Rapp–Hodgkin syndrome/Hay–Wells syndrome/Ectrodactyly–ectodermal dysplasia–cleft syndrome 3/Limb–mammary syndrome/OFC8)

Transcription coregulators	Coactivator: CREBBP (Rubinstein–Taybi syndrome) Corepressor: HR (Atrichia with papular lesions)

See also transcription factors 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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