eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| berardinelli-seip congenital lipodystrophy | ||||
| Disease ID | 451 |
|---|---|
| Disease | berardinelli-seip congenital lipodystrophy |
| Definition | Congenital disorders, usually autosomal recessive, characterized by severe generalized lack of ADIPOSE TISSUE, extreme INSULIN RESISTANCE, and HYPERTRIGLYCERIDEMIA. |
| Synonym | beradinelli-seip syndrome berardinelli lipodystrophy syndrome berardinelli lipodystrophy syndrome (disorder) berardinelli lipodystrophy syndrome -retired- berardinelli seip congenital lipodystrophy berardinelli seip syndrome berardinelli syndrome berardinelli's syndrome berardinelli-seip syndrome brunzell syndrome (with bone cysts) congenital generalised lipodystrophy congenital generalized lipodystrophies congenital generalized lipodystrophy congenital lipoatrophic diabetes congenital lipoatrophic diabetes (disorder) congenital lipoatrophic diabetes [ambiguous] congenital lipodystrophic diabetes congenital lipodystrophy congenital lipodystrophy, berardinelli-seip congenital total lipoatrophy congenital total lipoatrophy (disorder) congenital total lipodystrophy congenital total lipodystrophy (disorder) familial generalised lipodystrophy familial generalized lipodystrophy familial generalized lipodystrophy (disorder) familial generalized lipodystrophy (disorder) [ambiguous] familial lipodystrophic diabetes generalised lipodystrophy generalized lipodystrophies generalized lipodystrophies, congenital generalized lipodystrophy generalized lipodystrophy, congenital lawrence syndrome lawrence-seip syndrome lipodystrophies, congenital generalized lipodystrophies, generalized lipodystrophies, total lipodystrophy of berardinelli lipodystrophy with muscular hypertrophy lipodystrophy, berardinelli-seip congenital lipodystrophy, congenital generalized lipodystrophy, congenital generalized [disease/finding] lipodystrophy, generalized lipodystrophy, total seip syndrome seip's syndrome seip-lawrence syndrome syndrome, berardinelli-seip syndrome, brunzell (with bone cysts) total lipoatrophy total lipodystrophies total lipodystrophy total lipodystrophy and acromegaloid gigantism |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C0221032 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:12) C0026850 | muscular dystrophy | 3 C0011847 | diabetes | 3 C0011849 | diabetes mellitus | 2 C0024796 | marfan syndrome | 1 C0878544 | cardiomyopathy | 1 C0021843 | intestinal obstruction | 1 C0023787 | lipodystrophy | 1 C0334583 | pilocytic astrocytoma | 1 C0079774 | peripheral t cell lymphoma | 1 C0007194 | hypertrophic cardiomyopathy | 1 C0019158 | hepatitis | 1 C0241910 | autoimmune hepatitis | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:6) |
| Inferring Gene | Entrez_id | Symbol | Resource(Total Genes:3) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:23) 9370 | ADIPOQ | 2.14 | DISEASES 10555 | AGPAT2 | 6.979 | DISEASES 208 | AKT2 | 2.412 | DISEASES 26580 | BSCL2 | 7.055 | DISEASES 857 | CAV1 | 3.742 | DISEASES 859 | CAV3 | 3.196 | DISEASES 1050 | CEBPA | 1.601 | DISEASES 1675 | CFD | 1.444 | DISEASES 63924 | CIDEC | 2.904 | DISEASES 1491 | CTH | 1.363 | DISEASES 8788 | DLK1 | 2.25 | DISEASES 7957 | EPM2A | 1.317 | DISEASES 3953 | LEPR | 1.316 | DISEASES 4000 | LMNA | 3.994 | DISEASES 84823 | LMNB2 | 2.47 | DISEASES 51085 | MLXIPL | 1.419 | DISEASES 378884 | NHLRC1 | 1.579 | DISEASES 5696 | PSMB8 | 1.465 | DISEASES 284119 | PTRF | 5.823 | DISEASES 6256 | RXRA | 1.448 | DISEASES 6517 | SLC2A4 | 1.134 | DISEASES 6720 | SREBF1 | 1.414 | DISEASES 10269 | ZMPSTE24 | 3.799 | DISEASES |
| Locus | Symbol | Locus(Total Locus:5) |
| Disease ID | 451 |
|---|---|
| Disease | berardinelli-seip congenital lipodystrophy |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:43) HP:0000826 | Precocious puberty HP:0001733 | Pancreatitis HP:0000336 | Prominent supraorbital ridges HP:0002119 | Ventriculomegaly HP:0000845 | Growth hormone excess HP:0001000 | Abnormality of skin pigmentation HP:0001176 | Large hands HP:0100545 | Arterial stenosis HP:0000876 | Oligomenorrhea HP:0000083 | Renal insufficiency HP:0100820 | Glomerulopathy HP:0000303 | Mandibular prognathia HP:0000855 | Insulin resistance HP:0003712 | Skeletal muscle hypertrophy HP:0009830 | Peripheral neuropathy HP:0000112 | Nephropathy HP:0001639 | Hypertrophic cardiomyopathy HP:0002155 | Hypertriglyceridemia HP:0009125 | Lipodystrophy HP:0100578 | Lipoatrophy HP:0000147 | Polycystic ovaries HP:0000975 | Hyperhidrosis HP:0001658 | Myocardial infarction HP:0001399 | Hepatic failure HP:0000163 | Abnormality of the oral cavity HP:0000842 | Hyperinsulinemia HP:0002757 | Recurrent fractures HP:0002230 | Generalized hirsutism HP:0001397 | Hepatic steatosis HP:0002240 | Hepatomegaly HP:0001760 | Abnormality of the foot HP:0001595 | Abnormality of the hair HP:0005616 | Accelerated skeletal maturation HP:0001249 | Intellectual disability HP:0001769 | Broad foot HP:0012062 | Bone cyst HP:0000141 | Amenorrhea HP:0001394 | Cirrhosis HP:0002721 | Immunodeficiency HP:0000819 | Diabetes mellitus HP:0001072 | Thickened skin HP:0002092 | Pulmonary arterial hypertension HP:0000956 | Acanthosis nigricans |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:15) HP:0003560 | Muscular dystrophy | 3 HP:0000855 | Insulin resistance | 3 HP:0000819 | Diabetes mellitus | 2 HP:0002155 | Increased triglycerides | 2 HP:0009125 | Lipodystrophy | 1 HP:0000831 | Insulin-resistant diabetes mellitus | 1 HP:0001639 | Hypertrophic cardiomyopathy | 1 HP:0001638 | Cardiomyopathy | 1 HP:0001114 | Fatty deposits on eyelids | 1 HP:0012190 | T cell lymphoma | 1 HP:0012062 | Bone cysts | 1 HP:0001714 | Ventricular hypertrophy | 1 HP:0001712 | Left ventricular hypertrophy | 1 HP:0012115 | Liver inflammation | 1 HP:0005214 | Bowel obstruction | 1 |
| Disease ID | 451 |
|---|---|
| Disease | berardinelli-seip congenital lipodystrophy |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:3) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs121908093 | 12913070 | 10269 | ZMPSTE24 | umls:C0221032 | BeFree | We now show compound heterozygous mutations, Phe361fsX379 and Trp340Arg, in the zinc metalloproteinase (ZMPSTE24) gene in one of the four patients who had severe MAD associated with progeroid appearance and generalized lipodystrophy. | 0.000542884 | 2003 | ZMPSTE24 | 1 | 40285988 | T | C |
| rs137852975 | 18057387 | 26580 | BSCL2 | umls:C0221032 | BeFree | Novel BSCL2 gene mutation E189X in Chinese congenital generalized lipodystrophy child with early onset diabetes mellitus. | 0.13795489 | 2007 | BSCL2;HNRNPUL2-BSCL2 | 11 | 62692671 | C | A |
| rs137852975 | 19041432 | 26580 | BSCL2 | umls:C0221032 | BeFree | Severe cardiac phenotype of Berardinelli-Seip congenital lipodystrophy in an infant with homozygous E189X BSCL2 mutation. | 0.13795489 | 2009 | BSCL2;HNRNPUL2-BSCL2 | 11 | 62692671 | C | A |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:17) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0003712 | Skeletal muscle hypertrophy | MP:0011774 | abnormal urinary bladder detrusor smooth muscle morphology | any structural anomaly of the bundles of smooth muscle fibers forming the muscular wall of the urinary bladder, which are arranged in a longitudinal and a circular layer and, on contraction, serve to expel urine |
| HP:0001072 | Thickened skin | MP:0009932 | skin fibrosis | invasion of fibrous connective tissue into the skin, often resulting from inflammation or injury |
| HP:0000845 | Growth hormone excess | MP:0003497 | insensitivity to parathyroid hormone | no changes in calcium homeostasis in response to endogenous or exogenous hormone |
| HP:0000163 | Abnormality of the oral cavity | MP:0009657 | failure of chorioallantoic fusion | failure to initiate and/or complete the formation of a highly vascularized extra-embryonic fetal membrane by fusion of the chorion and allantois |
| HP:0001769 | Broad foot | MP:0008138 | absent podocyte foot process | absence of the footlike extension of podocytes that interdigitate with one another to form the walls of the glomerular capillaries |
| HP:0012062 | Bone cyst | MP:0003414 | epidermal cyst | a benign mass derived from the epidermis or the epithelium of a hair follicle, formed by enclosure of epithelium within the dermis and filled with keratin and lipid-rich inclusions |
| HP:0001639 | Hypertrophic cardiomyopathy | MP:0005330 | cardiomyopathy | diseases of the heart (myocardium); may result from many causes |
| HP:0000083 | Renal insufficiency | MP:0003335 | exocrine pancreatic insufficiency | inadequate synthesis and/or secretion of digestive enzymes by the exocrine portion of the pancreas, usually due to loss of acinar tissue from idiopathic atrophy or acute or chronic inflammation, causing maldigestion and malabsorption of nutrients |
| HP:0100545 | Arterial stenosis | MP:0010641 | descending aorta stenosis | diffuse constriction or narrowing of the descending aorta |
| HP:0005616 | Accelerated skeletal maturation | MP:0003378 | early sexual maturation | pubertal changes occur at an earlier than normal age |
| HP:0001595 | Abnormality of the hair | MP:0008261 | arrest of male meiosis | cessation of the progression of the process of nuclear division that results in sperm with one half the normal chromosome number of the original cell |
| HP:0001000 | Abnormality of skin pigmentation | MP:0009536 | abnormal interstitial cell of Cajal morphology | any structural anomaly in the type of cell found in the gastrointestinal tract and serving as a pacemaker that triggers gut contraction; ICCs mediate inputs from the enteric nervous system to smooth muscle cells and are thought to be the cells from which |
| HP:0000855 | Insulin resistance | MP:0010935 | increased airway resistance | greater opposition to flow of air caused by the forces of friction, measured as the ratio of driving pressure to the rate of air flow |
| HP:0001760 | Abnormality of the foot | MP:0011665 | d-loop transposition of the great arteries | complete transposition of the great arteries; the d- refers to the dextroposition of the bulboventricular loop (ie, the position of the right ventricle, which is on the right side); in addition, the aorta also tends to be on the right and anterior, and th |
| HP:0002092 | Pulmonary hypertension | MP:0005258 | ocular hypertension | abnormal elevation of the intraocular pressure |
| HP:0001399 | Hepatic failure | MP:0006138 | congestive heart failure | cardiac output is insufficient to supply blood throughout the body, resulting in the accumulation of fluid in the lungs and other body tissues; it is related mainly to salt and water retention in the tissues rather than directly to reduced blood flow; blo |
| HP:0002757 | Recurrent fractures | MP:0004675 | rib fractures | a crack or break in the bones forming the bony wall of the chest |
Mapped by homologous gene(Total Items:43) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0012062 | Bone cyst | MP:0014179 | abnormal blood-retinal barrier function | anomaly in the function of the part of the blood-ocular barrier that consists of cells that are joined tightly together to prevent certain substances from entering the tissue of the retina; the BRB consists of non-fenestrated capillaries of the retinal ci |
| HP:0000845 | Growth hormone excess | MP:0014169 | decreased brown adipose tissue mass | decreased physical bulk or volume of brown adipose tissue |
| HP:0001595 | Abnormality of the hair | MP:0014127 | increased thymoma incidence | greater than the expected number of a malignant neoplasm originating from the epithelial cells of the thymus, occurring in a specific population in a given time period; thymoma is an uncommon tumor linked with myasthenia gravis and other autoimmune diseas |
| HP:0000112 | Nephropathy | MP:0020234 | decreased basal metabolism | decrease in heat production of an organism at the lowest level of cell chemistry in an inactive, awake, and fasting state |
| HP:0009125 | Lipodystrophy | MP:0020234 | decreased basal metabolism | decrease in heat production of an organism at the lowest level of cell chemistry in an inactive, awake, and fasting state |
| HP:0000303 | Mandibular prognathia | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0003712 | Skeletal muscle hypertrophy | MP:0020234 | decreased basal metabolism | decrease in heat production of an organism at the lowest level of cell chemistry in an inactive, awake, and fasting state |
| HP:0009830 | Peripheral neuropathy | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001399 | Hepatic failure | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002119 | Ventriculomegaly | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0005616 | Accelerated skeletal maturation | MP:0020010 | decreased bone mineral density of femur | reduction in the quatitative measurment value of mineral content of bone in the long bone of the thigh |
| HP:0001072 | Thickened skin | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0100545 | Arterial stenosis | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0002240 | Hepatomegaly | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0002092 | Pulmonary hypertension | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0002721 | Immunodeficiency | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0100820 | Glomerulopathy | MP:0014169 | decreased brown adipose tissue mass | decreased physical bulk or volume of brown adipose tissue |
| HP:0000956 | Acanthosis nigricans | MP:0020234 | decreased basal metabolism | decrease in heat production of an organism at the lowest level of cell chemistry in an inactive, awake, and fasting state |
| HP:0000819 | Diabetes mellitus | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001760 | Abnormality of the foot | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001000 | Abnormality of skin pigmentation | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000876 | Oligomenorrhea | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0001639 | Hypertrophic cardiomyopathy | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0002230 | Generalized hirsutism | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002757 | Recurrent fractures | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000975 | Hyperhidrosis | MP:0020187 | altered susceptibility to prion infection | altered likelihood that an organism will develop ill effects from the small proteinaceous infectious particles which are resistant to inactivation by procedures that modify nucleic acids and which contain an abnormal isoform of a cellular protein that is |
| HP:0001769 | Broad foot | MP:0014169 | decreased brown adipose tissue mass | decreased physical bulk or volume of brown adipose tissue |
| HP:0000855 | Insulin resistance | MP:0020234 | decreased basal metabolism | decrease in heat production of an organism at the lowest level of cell chemistry in an inactive, awake, and fasting state |
| HP:0100578 | Lipoatrophy | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000826 | Precocious puberty | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000336 | Prominent supraorbital ridges | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000083 | Renal insufficiency | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0001249 | Intellectual disability | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0002155 | Hypertriglyceridemia | MP:0020234 | decreased basal metabolism | decrease in heat production of an organism at the lowest level of cell chemistry in an inactive, awake, and fasting state |
| HP:0000163 | Abnormality of the oral cavity | MP:0013501 | increased fibroblast apoptosis | increase in the timing or the number of fibroblast cells undergoing programmed cell death |
| HP:0001394 | Cirrhosis | MP:0020134 | abnormal gallbladder size | an anomaly in the size of the gall bladder compared to average, the organ that serves as a storage reservoir for bile |
| HP:0001733 | Pancreatitis | MP:0020134 | abnormal gallbladder size | an anomaly in the size of the gall bladder compared to average, the organ that serves as a storage reservoir for bile |
| HP:0001658 | Myocardial infarction | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000147 | Polycystic ovaries | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000842 | Hyperinsulinemia | MP:0020234 | decreased basal metabolism | decrease in heat production of an organism at the lowest level of cell chemistry in an inactive, awake, and fasting state |
| HP:0001397 | Hepatic steatosis | MP:0020234 | decreased basal metabolism | decrease in heat production of an organism at the lowest level of cell chemistry in an inactive, awake, and fasting state |
| HP:0000141 | Amenorrhea | MP:0013395 | eyelid hypoplasia | underdevelopment or reduced size of the skin folds covering the front of the eyeball, usually due to a decreased cell number |
| HP:0001176 | Large hands | MP:0014169 | decreased brown adipose tissue mass | decreased physical bulk or volume of brown adipose tissue |
| Disease ID | 451 |
|---|---|
| Disease | berardinelli-seip congenital lipodystrophy |
| Case | (Waiting for update.) |