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Hello! Guest! Please Login or Register! Clinician Mode

Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Hearing Loss Disease Portal

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Metabolism, Inborn Errors (D008661)
..Starting node ..Progeria (D011371)
Child Nodes:
........Acrogeria, gottron type (C538187)
........Bird headed dwarfism Montreal type (C535448)
........Penttinen-Aula syndrome (C536653)
........Petty Laxova Wiedemann syndrome (C537886)
........Premature Aging Syndrome, Okamoto Type (C566621)
........Progeria short stature pigmented nevi (C536422)
........Progeria Syndrome, Childhood-Onset (C567661)
........Progeroid Facial Appearance with Hand Anomalies (C566563)
........Progeroid Syndrome, Congenital, Petty Type (C567360)
........Progeroid syndrome, neonatal (C536423)
........Ruvalcaba Churesigaew Myhre syndrome (C537190)
Sister Nodes:
..3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency (C567784)
..3-Hydroxyacyl-CoA Dehydrogenase Deficiency (C535310)
..3-Methylglutaconic Aciduria (C579867)
..3-Methylglutaconic Aciduria Type IV (C565393)
..3-Methylglutaconic Aciduria, Type I (C562801)
..3-Methylglutaconic Aciduria, Type V (C565706)
..5-Nucleotidase syndrome (C535321)
..6-Phosphogluconolactonase Deficiency (C566803)
..Acetylcarnitine deficiency (C536006)
..Acholinesterasemia (C566750)
..Acid Phosphatase Deficiency (C562645)
..Adenine phosphoribosyltransferase deficiency (C538228)
..AICAR TRANSFORMYLASE/IMP CYCLOHYDROLASE DEFICIENCY (OMIM:608688)
..alpha-Fetoprotein Deficiency (C566300)
..Amino Acid Metabolism, Inborn Errors (D000592) 169
..Amino Acid Transport Disorders, Inborn (D020157) 3
..Amobarbital, Deficient N-Hydroxylation of (C565959)
..Amyloidosis, Familial (D028226) 13
..Arene Oxide Detoxification Defect (C565043)
..Aromatase deficiency (C537436)
..Aryl Hydrocarbon Hydroxylase Inducibility (C566250)
..BISPHOSPHOGLYCERATE MUTASE DEFICIENCY (OMIM:222800)
..Brain Diseases, Metabolic, Inborn (D020739) 218
..Butyrylcholinesterase deficiency (C537417)
..Butyrylcholinesterase Deficiency, Fluoride-Resistant, Japanese Type (C566751)
..Carbohydrate Metabolism, Inborn Errors (D002239) 169
..Carnitine Acetyltransferase Deficiency (C563249)
..Carnitine palmitoyl transferase 2 deficiency (C535589)
..Chromate Resistance (C566125)
..COENZYME Q10 DEFICIENCY, PRIMARY, 1 (OMIM:607426)
..Combined Malonic and Methylmalonic Aciduria (C580002)
..Combined Oxidative Phosphorylation Deficiency 1 (C563797)
..Combined Oxidative Phosphorylation Deficiency 4 (C565690)
..Combined Oxidative Phosphorylation Deficiency 5 (C567126)
..Congenital chloride diarrhea (C536210)
..Copper deficiency, familial benign (C535468)
..Costeff optic atrophy syndrome (C535311)
..Coumarin Resistance (C563039)
..Coumarin Sensitivity (C567276)
..CREATINE PHOSPHOKINASE, ELEVATED SERUM (OMIM:123320)
..Cytochrome-c Oxidase Deficiency (D030401) 2
..Deafness hyperuricemia neurologic ataxia (C535995)
..Deoxyribose-5-Phosphate Aldolase Deficiency (C565112)
..Diarrhea 3, Secretory Sodium, Congenital (C562576)
..Diarrhea 3, Secretory Sodium, Congenital, Syndromic (C567490)
..Diarrhea, Glucose-Stimulated Secretory, with Common Variable Immunodeficiency (C565099)
..Dihydropyrimidinase Deficiency (C562815)
..Diphenylhydantoin, Defect in Hydroxylation of (C565044)
..Drug Metabolism, Poor, CYP2C19-Related (C563703)
..Drug Metabolism, Poor, CYP2D6-Related (C563835)
..Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency (C562657)
..Enterokinase Deficiency (C562649)
..Ethanolaminosis (C562651)
..Familial gynecomastia, due to increased aromatase activity (C000591739)
..Finnish lethal neonatal metabolic syndrome (C537934)
..Fumaric aciduria (C538191)
..Glucocorticoid Receptor Deficiency (C564221)
..Glutamate formiminotransferase deficiency (C537425)
..Glycoprotein Storage Disease (C565538)
..Glyoxalase II Deficiency (C564215)
..Growth Factors, Combined Defect of (C565529)
..HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY (OMIM:613470)
..HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO HEXOKINASE DEFICIENCY (OMIM:235700)
..Hyaluronan Metabolism, Defect in (C565742)
..Hyperbilirubinemia, Hereditary (D006933) 7
..Hypercalcemia, Idiopathic, of Infancy (C562581)
..HYPERCHLORHIDROSIS, ISOLATED (OMIM:143860)
..Hypoadiponectinemia (C567258)
..Hypokalemia, Familial (C562654)
..Hypoproteinemia, Hypercatabolic (C565476)
..Inosine Triphosphatase Deficiency (C564127)
..Intrinsic Factor and R Binder, Combined Congenital Deficiency of (C565461)
..Kallikrein, Decreased Urinary Activity of (C563653)
..L-Gulonolactone Oxidase, Nonfunctional (C565486)
..Lactate Dehydrogenase B Deficiency (C563641)
..Lactic Aciduria due to D-Lactic Acid (C565446)
..Leukotriene C4 Synthase Deficiency (C565439)
..Lipid Metabolism, Inborn Errors (D008052) 135
..LONG-CHAIN 3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY (OMIM:609016)
..Lysosomal Storage Diseases (D016464) 106
..Malonic aciduria (C535702)
..Mannose 6-Phosphate Receptor Recognition Defect, Lebanese Type (C563601)
..Mannose-Binding Protein Deficiency (C563602)
..Medium Chain 3-Ketoacyl-CoA Thiolase Deficiency (C566566)
..Metal Metabolism, Inborn Errors (D008664) 55
..Methemoglobin Reductase Deficiency (C563171)
..Methylcobalamin Deficiency, CblG Type (C565394)
..Methylmalonyl-Coenzyme A mutase deficiency (C537573)
..Mitochondrial Complex II Deficiency (C565375)
..Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form, With Methylmalonic Aciduria, Autosomal Recessive (C567624)
..Myeloperoxidase Deficiency (C562864)
..N acetyltransferase deficiency (C536107)
..Pancreatic Insufficiency, Combined Exocrine (C564907)
..Peroxisomal Disorders (D018901) 39
..Phenacetin O-Deethylase, Deficiency of (C565127)
..Phenol sulfotransferase deficiency (C537895)
..Phosphoglycerate Kinase 1 Deficiency (C567067)
..Porphyrias (D011164) 18
..Progeria (D011371) 11
..Proguanil, Poor Metabolism of (C563704)
..Purine-Pyrimidine Metabolism, Inborn Errors (D011686) 24
..Renal Tubular Transport, Inborn Errors (D015499) 76
..Retinol-Binding Protein Deficiency (C566711)
..Steroid Metabolism, Inborn Errors (D043202) 34
..Stomatocytosis I (C566111)
..Stomatocytosis II (C566110)
..Succinic Acidemia (C563952)
..THYROTROPIN-RELEASING HORMONE DEFICIENCY (OMIM:275120)
..Transcobalamin I Deficiency (C562798)
..Trimethylaminuria (C536561)
..Warfarin Sensitivity (C567080)
..Weinstein Kliman Scully syndrome (C536688)
..Wiedemann Oldigs Oppermann syndrome (C536705)
..Xanthinuria, Type I (C562584)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

9301

Name:

Progeria

Definition:

An abnormal congenital condition, associated with defects in the LAMIN TYPE A gene, which is characterized by premature aging in children, where all the changes of cell senescence occur. It is manifested by premature greying; hair loss; hearing loss (DEAFNESS); cataracts (CATARACT); ARTHRITIS; OSTEOPOROSIS; DIABETES MELLITUS; atrophy of subcutaneous fat; skeletal hypoplasia; elevated urinary HYALURONIC ACID; and accelerated ATHEROSCLEROSIS. Many affected individuals develop malignant tumors, especially SARCOMA.

Alternative IDs:

OMIM:176670

ParentIDs:

MESH:D008661

TreeNumbers:

C16.320.565.753 |C18.452.648.753

Synonyms:

Slim Mappings:

Genetic disease (inborn)|Metabolic disease

Reference:

MedGen: D011371
MeSH: D011371
OMIM: 176670;

Genes: LMNA;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0000007	Autosomal recessive inheritance
3	HP:0007485	Absence of subcutaneous fat
4	HP:0001596	Alopecia
5	HP:0001681	Angina pectoris
6	HP:0001635	Congestive heart failure
7	HP:0040160	Generalized osteoporosis
8	HP:0001510	Growth delay
9	HP:0000272	Malar flattening
10	HP:0000347	Micrognathia
11	HP:0011800	Midface retrusion
12	HP:0001658	Myocardial infarction
13	HP:0002797	Osteolysis
14	HP:0004416	Precocious atherosclerosis
15	HP:0005181	Premature coronary artery atherosclerosis

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_170707.3(LMNA):c.433G>A (p.Glu145Lys)	4000	LMNA	Pathogenic	60310264	RCV000192009; RCV000015596; RCV000057406;	N	MedGen:C0033300,OMIM:176670,ORPHA:740,SNOMED CT:238870004; MedGen:C4016241; MedGen:CN221809	1	156100484	156100484	NM_170707.3:c.433G>A	NP_733821.1:p.Glu145Lys	NC_000001.10:g.156100484G>A	OMIM Allelic Variant:150330.0024	C4016241 Hutchinson-Gilford progeria syndrome, atypical; C0033300 176670 Hutchinson-Gilford syndrome; CN221809 not provided
NM_170707.3(LMNA):c.667G>A (p.Glu223Lys)	4000	LMNA	Pathogenic	797044485	RCV000192010;	N	MedGen:C0033300,OMIM:176670,ORPHA:740,SNOMED CT:238870004	1	156104623	156104623	NM_170707.3:c.667G>A	NP_733821.1:p.Glu223Lys	NC_000001.10:g.156104623G>A	-	C0033300 176670 Hutchinson-Gilford syndrome
NM_170707.3(LMNA):c.1303C>T (p.Arg435Cys)	4000	LMNA	Likely pathogenic;Pathogenic;Uncertain significance	150840924	RCV000148606; RCV000150953; RCV000057265;	N	MedGen:C0007193,ORPHA:217604,SNOMED CT:195021004; MedGen:C0033300,OMIM:176670,ORPHA:740,SNOMED CT:238870004; MedGen:CN221809	1	156106150	156106150	NM_170707.3:c.1303C>T	NP_733821.1:p.Arg435Cys	NC_000001.10:g.156106150C>T	-	C0033300 176670 Hutchinson-Gilford syndrome; CN221809 not provided; C0007193 Primary dilated cardiomyopathy
NM_170707.3(LMNA):c.1579C>T (p.Arg527Cys)	4000	LMNA	Pathogenic	57318642	RCV000015576; RCV000192011; RCV000057324; RCV000192240;	N	MedGen:C0007959, Orphanet:ORPHA166,SNOMED CT:50548001; MedGen:C0033300,OMIM:176670,ORPHA:740,SNOMED CT:238870004; MedGen:C0432291,OMIM:248370,ORPHA:2457,SNOMED CT:109419009; MedGen:CN221809	1	156106994	156106994	NM_170707.3:c.1579C>T	NP_733821.1:p.Arg527Cys	NC_000001.10:g.156106994C>T	OMIM Allelic Variant:150330.0026	C0007959 Charcot-Marie-Tooth disease; C0033300 176670 Hutchinson-Gilford syndrome; C0432291 248370 Mandibuloacral dysostosis; CN221809 not provided
NM_170707.3(LMNA):c.1619T>C (p.Met540Thr)	4000	LMNA	Pathogenic	267607547	RCV000192012; RCV000057340;	N	MedGen:C0033300,OMIM:176670,ORPHA:740,SNOMED CT:238870004; MedGen:CN221809	1	156107455	156107455	NM_170707.3:c.1619T>C	NP_733821.1:p.Met540Thr	NC_000001.10:g.156107455T>C	-	C0033300 176670 Hutchinson-Gilford syndrome; CN221809 not provided
NM_170707.3(LMNA):c.1699_1968del270 (p.Gly567_Gln656del)	4000	LMNA	Pathogenic	-1	RCV000192013;	N	MedGen:C0033300,OMIM:176670,ORPHA:740,SNOMED CT:238870004	1	156108279	156108548	NM_170707.3:c.1699_1968del270	NP_733821.1:p.Gly567_Gln656del		-	C0033300 176670 Hutchinson-Gilford syndrome
NM_170707.3(LMNA):c.1771T>A (p.Cys591Ser)	4000	LMNA	Pathogenic	797044486	RCV000192014;	N	MedGen:C0033300,OMIM:176670,ORPHA:740,SNOMED CT:238870004	1	156108351	156108351	NM_170707.3:c.1771T>A	NP_733821.1:p.Cys591Ser	NC_000001.10:g.156108351T>A	-	C0033300 176670 Hutchinson-Gilford syndrome
NM_170707.3(LMNA):c.1821G>A (p.Val607=)	4000	LMNA	Pathogenic	59886214	RCV000015611; RCV000057362;	N	MedGen:C0033300,OMIM:176670,ORPHA:740,SNOMED CT:238870004; MedGen:CN221809	1	156108401	156108401	NM_170707.3:c.1821G>A	NP_733821.1:p.Val607=	NC_000001.10:g.156108401G>A	OMIM Allelic Variant:150330.0040	C0033300 176670 Hutchinson-Gilford syndrome; CN221809 not provided
NM_170707.3(LMNA):c.1822G>A (p.Gly608Ser)	4000	LMNA	Pathogenic	61064130	RCV000015595; RCV000057363;	N	MedGen:C0033300,OMIM:176670,ORPHA:740,SNOMED CT:238870004; MedGen:CN221809	1	156108402	156108402	NM_170707.3:c.1822G>A	NP_733821.1:p.Gly608Ser	NC_000001.10:g.156108402G>A	OMIM Allelic Variant:150330.0023	C0033300 176670 Hutchinson-Gilford syndrome; CN221809 not provided
NM_170707.3(LMNA):c.1824C>T (p.Gly608=)	4000	LMNA	Pathogenic	58596362	RCV000015594; RCV000174182; RCV000015593; RCV000057364; RCV000150957;	N	MedGen:C0033300,OMIM:176670,ORPHA:740,SNOMED CT:238870004; MedGen:C0406585,OMIM:275210,ORPHA:1662,SNOMED CT:400128006; MedGen:C0432291,OMIM:248370,ORPHA:2457,SNOMED CT:109419009; MedGen:CN221809; MedGen:CN236383, Orphanet:ORPHA98301	1	156108404	156108404	NM_170707.3:c.1824C>T	NP_733821.1:p.Gly608=	NC_000001.10:g.156108404C>T	HGMD:CS032429,OMIM Allelic Variant:150330.0022	C0033300 176670 Hutchinson-Gilford syndrome; CN236383 Laminopathy; C0406585 275210 Lethal tight skin contracture syndrome; C0432291 248370 Mandibuloacral dysostosis; CN221809 not provided
NM_170707.3(LMNA):c.1868C>G (p.Thr623Ser)	4000	LMNA	Pathogenic	59267781	RCV000192021; RCV000057366;	N	MedGen:C0033300,OMIM:176670,ORPHA:740,SNOMED CT:238870004; MedGen:CN221809	1	156108448	156108448	NM_170707.3:c.1868C>G	NP_733821.1:p.Thr623Ser	NC_000001.10:g.156108448C>G	-	C0033300 176670 Hutchinson-Gilford syndrome; CN221809 not provided
NM_170707.3(LMNA):c.1968G>A (p.Gln656=)	4000	LMNA	Pathogenic	797044487	RCV000192015; RCV000190822;	N	MedGen:C0033300,OMIM:176670,ORPHA:740,SNOMED CT:238870004; MedGen:C4016241	1	156108548	156108548	NM_170707.3:c.1968G>A	NP_733821.1:p.Gln656=	NC_000001.10:g.156108548G>A	OMIM Allelic Variant:150330.0055	C4016241 Hutchinson-Gilford progeria syndrome, atypical; C0033300 176670 Hutchinson-Gilford syndrome
NM_170707.3(LMNA):c.1968+1G>A	4000	LMNA	Pathogenic	113436208	RCV000015606; RCV000015607; RCV000057377;	N	MedGen:C0033300,OMIM:176670,ORPHA:740,SNOMED CT:238870004; MedGen:C0406585,OMIM:275210,ORPHA:1662,SNOMED CT:400128006; MedGen:CN221809	1	156108549	156108549	NM_170707.3:c.1968+1G>A		NC_000001.10:g.156108549G>A,NC_000001.10:g.156108549G>C	OMIM Allelic Variant:150330.0036	C0033300 176670 Hutchinson-Gilford syndrome; C0406585 275210 Lethal tight skin contracture syndrome; CN221809 not provided
NM_170707.3(LMNA):c.1968+1G>C	4000	LMNA	Pathogenic	113436208	RCV000192016;	N	MedGen:C0033300,OMIM:176670,ORPHA:740,SNOMED CT:238870004	1	156108549	156108549	NM_170707.3:c.1968+1G>C		NC_000001.10:g.156108549G>A,NC_000001.10:g.156108549G>C	-	C0033300 176670 Hutchinson-Gilford syndrome
NM_170707.3(LMNA):c.1968+2T>A	4000	LMNA	Pathogenic	113860699	RCV000192017;	N	MedGen:C0033300,OMIM:176670,ORPHA:740,SNOMED CT:238870004	1	156108550	156108550	NM_170707.3:c.1968+2T>A		NC_000001.10:g.156108550T>A,NC_000001.10:g.156108550T>C	-	C0033300 176670 Hutchinson-Gilford syndrome
NM_170707.3(LMNA):c.1968+2T>C	4000	LMNA	Pathogenic	113860699	RCV000192018;	N	MedGen:C0033300,OMIM:176670,ORPHA:740,SNOMED CT:238870004	1	156108550	156108550	NM_170707.3:c.1968+2T>C		NC_000001.10:g.156108550T>A,NC_000001.10:g.156108550T>C	-	C0033300 176670 Hutchinson-Gilford syndrome
NM_170707.3(LMNA):c.1968+5G>A	4000	LMNA	Pathogenic	797044488	RCV000192020; RCV000190823;	N	MedGen:C0033300,OMIM:176670,ORPHA:740,SNOMED CT:238870004; MedGen:C4016241	1	156108553	156108553	NM_170707.3:c.1968+5G>A		NC_000001.10:g.156108553G>A,NC_000001.10:g.156108553G>C	OMIM Allelic Variant:150330.0056	C4016241 Hutchinson-Gilford progeria syndrome, atypical; C0033300 176670 Hutchinson-Gilford syndrome
NM_170707.3(LMNA):c.1968+5G>C	4000	LMNA	Pathogenic	797044488	RCV000192019;	N	MedGen:C0033300,OMIM:176670,ORPHA:740,SNOMED CT:238870004	1	156108553	156108553	NM_170707.3:c.1968+5G>C		NC_000001.10:g.156108553G>A,NC_000001.10:g.156108553G>C	-	C0033300 176670 Hutchinson-Gilford syndrome