MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation portal

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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

MSeqDR Mitochondrial Disease Portal

*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO

Disease Browser
Parent Node: Lipid Metabolism, Inborn Errors (D008052)
Parent Node: Lipodystrophy (D008060)
..Starting node ..Lipodystrophy, Congenital Generalized (D052497)
Child Nodes:
........Lipodystrophy, Congenital Generalized, Type 3 (C567282)
........Lipodystrophy, Congenital Generalized, Type 4 (C567642)
........Lipodystrophy, Generalized, with Mental Retardation, Deafness, Short Stature, and Slender Bones (C564283)
Sister Nodes:
..ENCEPHALOPATHY, PROGRESSIVE, WITH OR WITHOUT LIPODYSTROPHY (OMIM:615924)
..HIV-Associated Lipodystrophy Syndrome (D039682)
..KEPPEN-LUBINSKY SYNDROME (OMIM:614098)
..Lipoatrophy with diabetes, hepatic steatosis, cardiomyopathy, and leukomelanodermic papules (C535905)
..Lipodystrophy, Congenital Generalized (D052497) 3
..Lipodystrophy, Familial Partial (D052496) 1
..Lipodystrophy, Partial, Acquired (C562448)
..MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME (OMIM:615381)
..Mandibuloacral dysplasia with type A lipodystrophy (C535705)
..Mandibuloacral dysplasia with type B lipodystrophy (C535706)
..MARFAN LIPODYSTROPHY SYNDROME (OMIM:616914)
..Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (C536329)
..PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1 (OMIM:256040)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:

7087

Name:

Lipodystrophy, Congenital Generalized

Definition:

Congenital disorders, usually autosomal recessive, characterized by severe generalized lack of ADIPOSE TISSUE, extreme INSULIN RESISTANCE, and HYPERTRIGLYCERIDEMIA.

Alternative IDs:

OMIM:269700|OMIM:608594

ParentIDs:

MESH:D008052|MESH:D008060

TreeNumbers:

C16.320.565.398.745 |C17.800.849.391.550 |C18.452.584.625.550 |C18.452.648.398.745 |C18.452.880.391.550

Synonyms:

AGPAT2-Related Brunzell Syndrome |Berardinelli Seip Congenital Lipodystrophy |Berardinelli-Seip Congenital Lipodystrophy |Berardinelli Seip Congenital Lipodystrophy Type 1 |Berardinelli Seip Congenital Lipodystrophy, Type 1 |Berardinelli-Seip Congenital Lipod

Slim Mappings:

Genetic disease (inborn)|Metabolic disease|Skin disease

Reference:

MedGen: D052497
MeSH: D052497
OMIM: 608594;
MSeqDR :
Genes: AGPAT2; BSCL2;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0000956	Acanthosis nigricans
3	HP:0005616	Accelerated skeletal maturation
4	HP:0001735	Acute pancreatitis
5	HP:0001638	Cardiomyopathy	HP:0040283
6	HP:0001394	Cirrhosis NAMDC: Cirrhosis
7	HP:0008665	Clitoral hypertrophy
8	HP:0002833	Cystic angiomatosis of bone
9	HP:0000868	Decreased fertility in females
10	HP:0003292	Decreased serum leptin
11	HP:0002910	Elevated hepatic transaminases
12	HP:0003716	Generalized muscular appearance from birth
13	HP:0001397	Hepatic steatosis NAMDC: Hepatopathy with steatosis or oncocytic changes by liver biopsy
14	HP:0002240	Hepatomegaly
15	HP:0001425	Heterogeneous
16	HP:0001007	Hirsutism
17	HP:0000842	Hyperinsulinemia
18	HP:0002155	Hypertriglyceridemia
19	HP:0000877	Insulin-resistant diabetes mellitus at puberty
20	HP:0000065	Labial hypertrophy
21	HP:0001176	Large hands
22	HP:0009125	Lipodystrophy
23	HP:0001833	Long foot
24	HP:0000400	Macrotia
25	HP:0000303	Mandibular prognathia
26	HP:0000787	Nephrolithiasis
27	HP:0000147	Polycystic ovaries
28	HP:0002591	Polyphagia
29	HP:0001544	Prominent umbilicus
30	HP:0003809	Reduced intrathoracic adipose tissue
31	HP:0001744	Splenomegaly
32	HP:0000098	Tall stature
33	HP:0000325	Triangular face
34	HP:0001537	Umbilical hernia

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
NM_006412.4(AGPAT2):c.755_763del (p.Met252_Thr254del)	10555	AGPAT2	Pathogenic	1057517656	RCV000412504;	N	MedGen:C1720862,OMIM:608594	9	139568278	139568286	NC_000009.11:g.139568281_139568289del	-
NM_006412.4(AGPAT2):c.713C>G (p.Ala238Gly)	10555	AGPAT2	Pathogenic	200656731	RCV000412633;	N	MedGen:C1720862,OMIM:608594	9	139568328	139568328	NC_000009.11:g.139568328G>C	-	C1720862 608594 Congenital generalized lipodystrophy type 1;
NM_006412.4(AGPAT2):c.698C>A (p.Thr233Asn)	10555	AGPAT2	Uncertain significance	-1	RCV000788112;	N	MedGen:C1720862,OMIM:608594	9	139568343	139568343	NC_000009.11:g.139568343G>T	-
NM_006412.4(AGPAT2):c.683T>C (p.Leu228Pro)	10555	AGPAT2	Pathogenic	104894100	RCV000007006;	N	MedGen:C1720862,OMIM:608594	9	139568358	139568358	NC_000009.11:g.139568358A>G	OMIM Allelic Variant:603100.0004,UniProtKB (protein):O15120#VAR_017327	C1720862 608594 Congenital generalized lipodystrophy type 1;
NM_006412.4(AGPAT2):c.676C>T (p.Gln226Ter)	10555	AGPAT2	Pathogenic	1057517655	RCV000412578;	N	MedGen:C1720862,OMIM:608594	9	139568365	139568365	NC_000009.11:g.139568365G>A	-	C1720862 608594 Congenital generalized lipodystrophy type 1;
NM_006412.4(AGPAT2):c.661+2T>G	10555	AGPAT2	Pathogenic	1057517654	RCV000412521;	N	MedGen:C1720862,OMIM:608594	9	139569185	139569185	NC_000009.11:g.139569185A>C	-	C1720862 608594 Congenital generalized lipodystrophy type 1;
NM_006412.4(AGPAT2):c.646A>T (p.Lys216Ter)	10555	AGPAT2	Conflicting interpretations of pathogenicity	138994150	RCV000412630; RCV000880987;	N	MedGen:C1720862,OMIM:608594; MedGen:CN517202	9	139569202	139569202	NC_000009.11:g.139569202T>A	-	C0221032 Congenital generalized lipodystrophy;
NM_006412.4(AGPAT2):c.643A>T (p.Lys215Ter)	10555	AGPAT2	Pathogenic	121908925	RCV000007008;	N	MedGen:C1720862,OMIM:608594	9	139569205	139569205	NC_000009.11:g.139569205T>A	OMIM Allelic Variant:603100.0006	C1720862 608594 Congenital generalized lipodystrophy type 1;
NM_006412.4(AGPAT2):c.622_626del (p.Ser208fs)	10555	AGPAT2	Pathogenic	1564290079	RCV000754915;	N	MedGen:C1720862,OMIM:608594	9	139569224	139569228	NC_000009.11:g.139569224_139569228del	-
NM_006412.4(AGPAT2):c.589-2A>G	10555	AGPAT2	Pathogenic	116807569	RCV000007004;	N	MedGen:C1720862,OMIM:608594	9	139569261	139569261	NC_000009.11:g.139569261T>C	OMIM Allelic Variant:603100.0002	C1720862 608594 Congenital generalized lipodystrophy type 1;
NM_006412.4(AGPAT2):c.366_588+534del	10555	AGPAT2	Pathogenic	-1	RCV000007011;	N	MedGen:C1720862,OMIM:608594	9	139570503	139571539	NC_000009.11:g.139570503_139571539del	OMIM Allelic Variant:603100.0009,dbVar:nssv3761633,dbVar:nsv1067865	C1720862 608594 Congenital generalized lipodystrophy type 1;
NM_006412.4(AGPAT2):c.570C>A (p.Tyr190Ter)	10555	AGPAT2	Pathogenic	121908926	RCV000007010;	N	MedGen:C1720862,OMIM:608594	9	139571055	139571055	NC_000009.11:g.139571055G>T	OMIM Allelic Variant:603100.0008	C1720862 608594 Congenital generalized lipodystrophy type 1;
NM_006412.4(AGPAT2):c.538del (p.Asp180fs)	10555	AGPAT2	Pathogenic	1057517653	RCV000412491;	N	MedGen:C1720862,OMIM:608594	9	139571087	139571087	NC_000009.11:g.139571090del	-	C1720862 608594 Congenital generalized lipodystrophy type 1;
NM_006412.4(AGPAT2):c.514G>A (p.Glu172Lys)	10555	AGPAT2	Likely pathogenic	748157664	RCV000412645; RCV000494007;	N	MedGen:C1720862,OMIM:608594; MedGen:CN517202	9	139571111	139571111	NC_000009.11:g.139571111C>T	-	C1720862 608594 Congenital generalized lipodystrophy type 1;
NM_006412.4(AGPAT2):c.513del (p.Glu172fs)	10555	AGPAT2	Pathogenic	1564290914	RCV000754914;	N	MedGen:C1720862,OMIM:608594	9	139571112	139571112	NC_000009.11:g.139571114del	-
NM_006412.4(AGPAT2):c.503G>A (p.Trp168Ter)	10555	AGPAT2	Pathogenic	1057518714	RCV000414972;	N	MedGen:C1720862,OMIM:608594	9	139571122	139571122	NC_000009.11:g.139571122C>T	-	C1720862 608594 Congenital generalized lipodystrophy type 1;
NM_006412.4(AGPAT2):c.493-1G>C	10555	AGPAT2	Pathogenic	606231168	RCV000007009;	N	MedGen:C1720862,OMIM:608594	9	139571133	139571133	NC_000009.11:g.139571133C>G	OMIM Allelic Variant:603100.0007	C1720862 608594 Congenital generalized lipodystrophy type 1;
NM_006412.4(AGPAT2):c.492+4_492+7del	10555	AGPAT2	Uncertain significance	1057518715	RCV000414842;	N	MedGen:C1720862,OMIM:608594	9	139571406	139571409	NC_000009.11:g.139571409_139571412del	-	C1720862 608594 Congenital generalized lipodystrophy type 1;
NM_006412.4(AGPAT2):c.492+1G>A	10555	AGPAT2	Pathogenic	933422777	RCV000412609;	N	MedGen:C1720862,OMIM:608594	9	139571412	139571412	NC_000009.11:g.139571412C>T	-	C1720862 608594 Congenital generalized lipodystrophy type 1;
NM_006412.4(AGPAT2):c.415_417TTC[1] (p.Phe140del)	10555	AGPAT2	Pathogenic	387906356	RCV000007007;	N	MedGen:C1720862,OMIM:608594	9	139571485	139571487	NC_000009.11:g.139571487_139571489AGA[1]	OMIM Allelic Variant:603100.0005	C1720862 608594 Congenital generalized lipodystrophy type 1;
NM_006412.4(AGPAT2):c.406G>A (p.Gly136Arg)	10555	AGPAT2	Pathogenic	797045222	RCV000193026;	N	MedGen:C1720862,OMIM:608594	9	139571499	139571499	NC_000009.11:g.139571499C>T	UniProtKB (protein):O15120#VAR_017328	C1720862 608594 Congenital generalized lipodystrophy type 1;
NM_006412.4(AGPAT2):c.377dup (p.Pro128fs)	10555	AGPAT2	Pathogenic	387906355	RCV000007005;	N	MedGen:C1720862,OMIM:608594	9	139571528	139571528	NC_000009.11:g.139571528dup	OMIM Allelic Variant:603100.0003	C1720862 608594 Congenital generalized lipodystrophy type 1;
NM_006412.4(AGPAT2):c.335C>T (p.Pro112Leu)	10555	AGPAT2	Uncertain significance	886063722	RCV000412550;	N	MedGen:C1720862,OMIM:608594	9	139571570	139571570	NC_000009.11:g.139571570G>A	-	C0221032 Congenital generalized lipodystrophy;
NM_006412.4(AGPAT2):c.299G>A (p.Ser100Asn)	10555	AGPAT2	Pathogenic	764260414	RCV000412496;	N	MedGen:C1720862,OMIM:608594	9	139571892	139571892	NC_000009.11:g.139571892C>T	-	C1720862 608594 Congenital generalized lipodystrophy type 1;
NM_006412.4(AGPAT2):c.202C>T (p.Arg68Ter)	10555	AGPAT2	Pathogenic	104894093	RCV000007003;	N	MedGen:C1720862,OMIM:608594	9	139571989	139571989	NC_000009.11:g.139571989G>A	OMIM Allelic Variant:603100.0001	C1720862 608594 Congenital generalized lipodystrophy type 1;
NM_006412.4(AGPAT2):c.194G>A (p.Trp65Ter)	10555	AGPAT2	Pathogenic	1057517651	RCV000412547;	N	MedGen:C1720862,OMIM:608594	9	139571997	139571997	NC_000009.11:g.139571997C>T	-	C1720862 608594 Congenital generalized lipodystrophy type 1;
NM_006412.4(AGPAT2):c.183-2A>G	10555	AGPAT2	Pathogenic	1057517649	RCV000412588;	N	MedGen:C1720862,OMIM:608594	9	139572010	139572010	NC_000009.11:g.139572010T>C	-	C1720862 608594 Congenital generalized lipodystrophy type 1;
NM_006412.4(AGPAT2):c.182+1G>A	10555	AGPAT2	Pathogenic	1057517650	RCV000412655;	N	MedGen:C1720862,OMIM:608594	9	139581627	139581627	NC_000009.11:g.139581627C>T	-	C1720862 608594 Congenital generalized lipodystrophy type 1;

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