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{
"identifier": "Lipodystrophy, congenital generalized, 5.",
"acronym": "CGL5.",
"accession": "DI-06827",
"synonyms": null,
"cross_references": "MeSH; D052497.",
"definition": "A form of congenital generalized lipodystrophy, a metabolic disorder characterized by a near complete absence of adipose tissue, extreme insulin resistance, hypertriglyceridemia, hepatic steatosis and diabetes mellitus. CGL5 is an autosomal recessive form with onset in early childhood. Affected individuals also have short stature. ",
"keywords": "KW-0219:Diabetes mellitus.; KW-1022:Congenital generalized lipodystrophy.; "
},
{
"identifier": "Lipodystrophy, familial partial, 2.",
"acronym": "FPLD2.",
"accession": "DI-01595",
"synonyms": "Familial partial lipodystrophy Dunnigan type.; FPL2.; Generalized lipoatrophy associated with diabetes, hepatic steatosis, hypertrophic cardiomyopathy and leukomelanodermic papules.; Lipoatrophic diabetes.; Lipodystrophy familial of limbs and lower trunk.; Lipodystrophy reverse partial.; ",
"cross_references": "MeSH; D052496.",
"definition": "A disorder characterized by the loss of subcutaneous adipose tissue in the lower parts of the body (limbs, buttocks, trunk). It is accompanied by an accumulation of adipose tissue in the face and neck causing a double chin, fat neck, or cushingoid appearance. Adipose tissue may also accumulate in the axillae, back, labia majora, and intraabdominal region. Affected patients are insulin-resistant and may develop glucose intolerance and diabetes mellitus after age 20 years, hypertriglyceridemia, and low levels of high density lipoprotein cholesterol. ",
"keywords": null
},
{
"identifier": "Lipodystrophy, familial partial, 3.",
"acronym": "FPLD3.",
"accession": "DI-01596",
"synonyms": "Familial partial lipodystrophy associated with PPARG mutations.; ",
"cross_references": "MeSH; D052496.",
"definition": "A form of lipodystrophy characterized by marked loss of subcutaneous fat from the extremities. Facial adipose tissue may be increased, decreased or normal. Affected individuals show an increased preponderance of insulin resistance, diabetes mellitus and dyslipidemia. ",
"keywords": null
},
{
"identifier": "Lipodystrophy, familial partial, 4.",
"acronym": "FPLD4.",
"accession": "DI-03072",
"synonyms": "Familial partial lipodystrophy associated with PLIN1 mutations.; ",
"cross_references": "MeSH; D052496.",
"definition": "A form of lipodystrophy characterized by loss of subcutaneous adipose tissue primarily affecting the lower limbs, insulin-resistant diabetes mellitus, hypertriglyceridemia, and hypertension. ",
"keywords": null
},
{
"identifier": "Lipodystrophy, familial partial, 5.",
"acronym": "FPLD5.",
"accession": "DI-03748",
"synonyms": "Familial partial lipodystrophy associated with CIDEC mutations.; ",
"cross_references": "MeSH; D052496.",
"definition": "A form of lipodystrophy characterized by loss of subcutaneous adipose tissue affecting limb, femorogluteal and subcutaneous abdominal fat, preservation of visceral, neck and axilliary fat, hepatomegaly, hepatic steatosis and insulin-resistant diabetes. ",
"keywords": null
},
{
"identifier": "Lipodystrophy, familial partial, 6.",
"acronym": "FPLD6.",
"accession": "DI-04219",
"synonyms": null,
"cross_references": "MeSH; D024821.",
"definition": "A form of lipodystrophy characterized by abnormal subcutaneous fat distribution. Affected individuals have increased visceral fat, impaired lipolysis, dyslipidemia, hepatic steatosis, systemic insulin resistance, and diabetes. Some patients manifest muscular dystrophy. ",
"keywords": "KW-0219:Diabetes mellitus.; KW-0550:Obesity.; "
},
{
"identifier": "Lipodystrophy, familial partial, 7.",
"acronym": "FPLD7.",
"accession": "DI-04108",
"synonyms": "LCCNS.; Lipodystrophy, partial, with congenital cataracts and neurodegeneration.; Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome.; ",
"cross_references": "MeSH; D052496.",
"definition": "A form of partial lipodystrophy, a disorder characterized by abnormal subcutaneous fat distribution. Affected individuals manifest a gradual loss of subcutaneous adipose tissue in various parts of the body, accompanied by an accumulation of adipose tissue in the face and neck in some cases causing a double chin, fat neck, or cushingoid appearance. FPLD7 is an autosomal dominant form with a variable phenotype. Some patients manifest congenital cataracts and neurodegeneration leading to cerebellar and spinal cord dysfunction. ",
"keywords": null
},
{
"identifier": "Lipodystrophy, familial partial, 8.",
"acronym": "FPLD8.",
"accession": "DI-06825",
"synonyms": null,
"cross_references": "MeSH; D052496.",
"definition": "An autosomal dominant form of partial lipodystrophy, a disorder characterized by abnormal subcutaneous fat distribution. FPLD8 patients show selective loss of subcutaneous adipose tissue from the limbs, beginning around 13 to 15 years of age, and abnormal accumulation of subcutaneous adipose tissue in the dorsal neck and face, as well as in the posterior thoracic and abdominal regions. The disorder is associated with metabolic abnormalities, including diabetes mellitus and hyperlipidemia. ",
"keywords": null
},
{
"identifier": "Lipodystrophy, familial partial, 9.",
"acronym": "FPLD9.",
"accession": "DI-06826",
"synonyms": null,
"cross_references": "MeSH; D052496.",
"definition": "An autosomal recessive form of partial lipodystrophy, a disorder characterized by abnormal subcutaneous fat distribution. FPLD9 patients are lean and show muscular hypertrophy, insulin-resistant diabetes with hyperinsulinemia, hypertriglyceridemia with low high- density lipoprotein (HDL) cholesterol, liver steatosis, and polycystic ovary syndrome with hirsutism. Some patients have more generalized lipoatrophy, whereas others have abnormal fat accumulation in the face and neck regions and show cushingoid or acromegalic facial features. Most patients also have neurologic features, including demyelinating polyneuropathy, developmental delay and intellectual disability. ",
"keywords": null
},
{
"identifier": "Lipoid proteinosis.",
"acronym": "LiP.",
"accession": "DI-01909",
"synonyms": "Hyalinosis cutis et mucosae.; Lipoid proteinosis of Urbach and Wiethe.; ",
"cross_references": "MedGen; C0023795.",
"definition": "Rare autosomal recessive disorder characterized by generalized thickening of skin, mucosae and certain viscera. Classical features include beaded eyelid papules and laryngeal infiltration leading to hoarseness. Histologically, there is widespread deposition of hyaline material and disruption/reduplication of basement membrane. ",
"keywords": null
},
{
"identifier": "Lipomatosis, multiple symmetric, with or without peripheral neuropathy.",
"acronym": "MSL.",
"accession": "DI-06711",
"synonyms": "Launois-Bensaude lipomatosis.; Lipodystrophy, cephalothoracic.; Lipomatosis, familial benign cervical.; Madelung Disease.; ",
"cross_references": "MeSH; D008069.",
"definition": "An autosomal recessive disorder characterized by the growth of unencapsulated, lipomatous masses affecting the upper body, especially the cervical and thoracic regions. Lipomatosis can be disfiguring, and lipoma growth around the neck may cause difficulty swallowing or breathing. The age at onset ranges from childhood to young adulthood. Some patients develop distal muscle weakness and atrophy due to axonal peripheral neuropathy. ",
"keywords": null
},
{
"identifier": "Lipoprotein glomerulopathy.",
"acronym": "LPG.",
"accession": "DI-01910",
"synonyms": null,
"cross_references": "MedGen; C2673196.",
"definition": "Uncommon kidney disease characterized by proteinuria, progressive kidney failure, and distinctive lipoprotein thrombi in glomerular capillaries. ",
"keywords": null
},
{
"identifier": "Lipoyltransferase 1 deficiency.",
"acronym": "LIPT1D.",
"accession": "DI-04388",
"synonyms": null,
"cross_references": "MeSH; D008661.",
"definition": "An autosomal recessive disorder due to a defect in lipoic acid metabolism, resulting in severe lactic acidosis and metabolic decompensation. Variable clinical manifestations include delayed psychomotor development, severe hypotonia, dystonia, loss of head control, coma, bradycardia, and pulmonary hypertension. ",
"keywords": null
},
{
"identifier": "Lissencephaly 1.",
"acronym": "LIS1.",
"accession": "DI-00670",
"synonyms": "Classic lissencephaly.; Lissencephaly-1.; ",
"cross_references": "MeSH; D054082.",
"definition": "A classical lissencephaly. It is characterized by agyria or pachygyria and disorganization of the clear neuronal lamination of normal six- layered cortex. The cortex is abnormally thick and poorly organized with 4 primitive layers. Associated with enlarged and dysmorphic ventricles and often hypoplasia of the corpus callosum. ",
"keywords": "KW-0451:Lissencephaly.; "
},
{
"identifier": "Lissencephaly 10.",
"acronym": "LIS10.",
"accession": "DI-05832",
"synonyms": null,
"cross_references": "MeSH; D054082.",
"definition": "A form of lissencephaly, a disorder of cortical development characterized by agyria or pachygyria and disorganization of the clear neuronal lamination of normal six-layered cortex. LIS10 is an autosomal dominant form clinically characterized by variably delayed development, mildly to moderately impaired intellectual development, language delay, and seizures. Some patients have normal early development and borderline to mild cognitive impairment. ",
"keywords": "KW-0451:Lissencephaly.; "
},
{
"identifier": "Lissencephaly 2.",
"acronym": "LIS2.",
"accession": "DI-00671",
"synonyms": "LCH.; Lissencephaly syndrome Norman-Roberts type.; Lissencephaly with cerebellar hypoplasia.; Norman-Roberts syndrome.; ",
"cross_references": "MeSH; D054082.",
"definition": "A classic type lissencephaly associated with ataxia, intellectual disability, seizures and abnormalities of the cerebellum, hippocampus and brainstem. ",
"keywords": "KW-0451:Lissencephaly.; "
},
{
"identifier": "Lissencephaly 3.",
"acronym": "LIS3.",
"accession": "DI-00672",
"synonyms": null,
"cross_references": "MeSH; D054082.",
"definition": "A classic type lissencephaly associated with psychomotor retardation and seizures. Features include agyria or pachygyria or laminar heterotopia, severe intellectual disability, motor delay, variable presence of seizures, and abnormalities of corpus callosum, hippocampus, cerebellar vermis and brainstem. ",
"keywords": "KW-0451:Lissencephaly.; "
},
{
"identifier": "Lissencephaly 4.",
"acronym": "LIS4.",
"accession": "DI-03160",
"synonyms": "Lissencephaly 4 with microcephaly.; Microlissencephaly.; ",
"cross_references": "MeSH; D054082.",
"definition": "A neurodevelopmental disorder characterized by lissencephaly, severe brain atrophy, extreme microcephaly, and profound intellectual disability. ",
"keywords": "KW-0451:Lissencephaly.; "
},
{
"identifier": "Lissencephaly 5.",
"acronym": "LIS5.",
"accession": "DI-03744",
"synonyms": null,
"cross_references": "MeSH; D054082.",
"definition": "An autosomal recessive brain malformation characterized by cobblestone changes in the cortex, more severe in the posterior region, and subcortical band heterotopia. Affected individuals have hydrocephalus, seizures, and severely delayed psychomotor development. ",
"keywords": "KW-0451:Lissencephaly.; "
},
{
"identifier": "Lissencephaly 6, with microcephaly.",
"acronym": "LIS6.",
"accession": "DI-04334",
"synonyms": null,
"cross_references": "MeSH; D054082.",
"definition": "A form of lissencephaly, a disorder of cortical development characterized by agyria or pachygyria and disorganization of the clear neuronal lamination of normal six-layered cortex. LIS6 features include hypoplasia of the corpus callosum, severe microcephaly and developmental delay. ",
"keywords": "KW-0451:Lissencephaly.; "
}
]
}