Marfanoid-Progeroid-Lipodystrophy Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MFLS MCID: MRF021 MIFTS: 33	Marfanoid-Progeroid-Lipodystrophy Syndrome (MFLS) Categories: Bone diseases, Genetic diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

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Aliases & Classifications for Marfanoid-Progeroid-Lipodystrophy Syndrome

MalaCards integrated aliases for Marfanoid-Progeroid-Lipodystrophy Syndrome:

Name: Marfanoid-Progeroid-Lipodystrophy Syndrome ⁵⁷ ⁷²

Marfan Lipodystrophy Syndrome ⁵⁷ ⁷² ²⁹ ⁶

Marfan-Progeroid-Lipodystrophy Syndrome ⁵⁷ ⁷²

Marfanoid-Progeroid Syndrome ⁵⁷ ⁷²

Mfls ⁵⁷ ⁷²

Progeroid and Marfanoid Aspect-Lipodystrophy Syndrome ⁵⁸

Syndrome, Lipodystrophy, Marfan ³⁹

Characteristics:

Orphanet epidemiological data:

⁵⁸

progeroid and marfanoid aspect-lipodystrophy syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM®:

⁵⁷ (Updated 20-May-2021)

Inheritance:
autosomal dominant

HPO:

³¹

marfanoid-progeroid-lipodystrophy syndrome:
Inheritance autosomal dominant inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Bone diseases

See all MalaCards categories (disease lists)

ICD10: ³³

Endocrine, nutritional and metabolic diseases

Metabolic disorders

Other metabolic disorders

Lipodystrophy, not elsewhere classified

Orphanet: ⁵⁸

Rare systemic and rhumatological diseases

External Ids:

OMIM® ⁵⁷ 616914

MeSH ⁴⁴ D008060 D008382

ICD10 via Orphanet ³³ E88.1

Orphanet ⁵⁸ ORPHA300382

MedGen ⁴¹ C4310796

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Summaries for Marfanoid-Progeroid-Lipodystrophy Syndrome

OMIM® : ⁵⁷ The marfanoid-progeroid-lipodystrophy syndrome (MFLS) is characterized by congenital lipodystrophy, premature birth with an accelerated linear growth disproportionate to weight gain, and progeroid appearance with distinct facial features, including proptosis, downslanting palpebral fissures, and retrognathia. Other characteristic features include arachnodactyly, digital hyperextensibility, myopia, dural ectasia, and normal psychomotor development (Takenouchi et al., 2013). Takenouchi et al. (2013) noted phenotypic overlap with Marfan syndrome (154700) and Shprintzen-Goldberg craniosynostosis syndrome (182212). (616914) (Updated 20-May-2021)

MalaCards based summary : Marfanoid-Progeroid-Lipodystrophy Syndrome, also known as marfan lipodystrophy syndrome, is related to acromicric dysplasia and marfan syndrome. An important gene associated with Marfanoid-Progeroid-Lipodystrophy Syndrome is FBN1 (Fibrillin 1). Affiliated tissues include skin, and related phenotypes are hypertension and macrocephaly

UniProtKB/Swiss-Prot : ⁷² Marfanoid-progeroid-lipodystrophy syndrome: An autosomal dominant syndrome characterized by congenital lipodystrophy, a progeroid facial appearance due to lack of subcutaneous fat, and variable signs of Marfan syndrome. Clinical features include premature birth with an accelerated linear growth disproportionate to the weight gain, ectopia lentis, aortic dilatation, dural ectasia, and arachnodactyly. Mental and motor development are within normal limits.

Wikipedia : ⁷³ Marfanoid-progeroid-lipodystrophy syndrome (MPL), also known as Marfan lipodystrophy syndrome (MFLS) or... more...

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Related Diseases for Marfanoid-Progeroid-Lipodystrophy Syndrome

Diseases related to Marfanoid-Progeroid-Lipodystrophy Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 11)

#	Related Disease	Score	Top Affiliating Genes
1	acromicric dysplasia	29.9	LOC113939944 FBN1
2	marfan syndrome	29.8	LOC113939944 FBN1
3	geleophysic dysplasia 2	10.2
4	mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome	10.2
5	stiff skin syndrome	9.8	LOC113939944 FBN1
6	geleophysic dysplasia	9.7	LOC113939944 FBN1
7	weill-marchesani syndrome	9.7	LOC113939944 FBN1
8	familial thoracic aortic aneurysm and aortic dissection	9.7	LOC113939944 FBN1
9	loeys-dietz syndrome	9.7	LOC113939944 FBN1
10	aortic aneurysm, familial thoracic 4	9.6	LOC113939944 FBN1
11	marfanoid hypermobility syndrome	9.5	LOC113939944 FBN1

Graphical network of the top 20 diseases related to Marfanoid-Progeroid-Lipodystrophy Syndrome:

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Symptoms & Phenotypes for Marfanoid-Progeroid-Lipodystrophy Syndrome

Human phenotypes related to Marfanoid-Progeroid-Lipodystrophy Syndrome:

³¹ (show all 28)

#	Description	HPO Frequency	HPO Source Accession
1	hypertension ³¹	occasional (7.5%)	HP:0000822
2	macrocephaly ³¹		HP:0000256
3	hydrocephalus ³¹		HP:0000238
4	pes planus ³¹		HP:0001763
5	prominent forehead ³¹		HP:0011220
6	intrauterine growth retardation ³¹		HP:0001511
7	retrognathia ³¹		HP:0000278
8	high, narrow palate ³¹		HP:0002705
9	pectus excavatum ³¹		HP:0000767
10	mitral valve prolapse ³¹		HP:0001634
11	arachnodactyly ³¹		HP:0001166
12	ectopia lentis ³¹		HP:0001083
13	dural ectasia ³¹		HP:0100775
14	downslanted palpebral fissures ³¹		HP:0000494
15	proptosis ³¹		HP:0000520
16	prominent nasal bridge ³¹		HP:0000426
17	bruising susceptibility ³¹		HP:0000978
18	craniosynostosis ³¹		HP:0001363
19	tall stature ³¹		HP:0000098
20	premature birth ³¹		HP:0001622
21	oligohydramnios ³¹		HP:0001562
22	aortic root aneurysm ³¹		HP:0002616
23	high myopia ³¹		HP:0011003
24	reduced subcutaneous adipose tissue ³¹		HP:0003758
25	narrow nose ³¹		HP:0000460
26	pes valgus ³¹		HP:0008081
27	scaphocephaly ³¹		HP:0030799
28	hyperextensibility of the finger joints ³¹		HP:0001187

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 20-May-2021)

Head And Neck Mouth:
narrow palate
high-arched palate

Head And Neck Face:
prominent forehead
retrognathia
progeroid appearance
scaphocephaly (in some patients)

Skeletal Hands:
arachnodactyly
hyperextensible digits

Growth Height:
tall stature

Skeletal Skull:
scaphocephaly
craniosynostosis (rare)
open anterior fontanel

Neurologic Central Nervous System:
normal psychomotor development
arrested hydrocephalus
dural ectasia (in some patients)

Chest Ribs Sternum Clavicles And Scapulae:
pectus excavatum (in some patients)

Prenatal Manifestations Amniotic Fluid:
oligohydramnios (in some patients)

Cardiovascular Heart:
mild mitral valve prolapse (in some patients)
dilation of aortic root (in some patients)

Skin Nails Hair Skin:
easy bruisability (in some patients)

Skeletal Feet:
pes planus
pes valgus

Growth Other:
intrauterine growth retardation

Head And Neck Eyes:
proptosis
downslanting palpebral fissures
severe myopia
ectopia lentis (in some patients)

Prenatal Manifestations Delivery:
premature birth

Head And Neck Nose:
high nasal bridge
thin nose

Head And Neck Head:
craniosynostosis (rare)
large head
arrested hydrocephalus

Skeletal Limbs:
long limbs
arthrogryposis of large joints (in some patients)

Growth Weight:
extremely low body mass index

Cardiovascular Vascular:
hypertension (rare)

Muscle Soft Tissue:
generalized lack of subcutaneous fat
extremely reduced subcutaneous fat

Clinical features from OMIM®:

616914 (Updated 20-May-2021)

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Drugs & Therapeutics for Marfanoid-Progeroid-Lipodystrophy Syndrome

Interventional clinical trials:

#	Name	Status	NCT ID	Phase	Drugs
1	Fluid Responsiveness: A Validation of Stroke Volume Variations Estimated With Pulse Wave Transit Time in Mechanically Ventilated and Spontaneously Breathing Patients After Off-pump Coronary Artery Bypass Grafting	Not yet recruiting	NCT04786652

Search NIH Clinical Center for Marfanoid-Progeroid-Lipodystrophy Syndrome

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Genetic Tests for Marfanoid-Progeroid-Lipodystrophy Syndrome

Genetic tests related to Marfanoid-Progeroid-Lipodystrophy Syndrome:

#	Genetic test	Affiliating Genes
1	Marfan Lipodystrophy Syndrome ²⁹	FBN1

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Anatomical Context for Marfanoid-Progeroid-Lipodystrophy Syndrome

MalaCards organs/tissues related to Marfanoid-Progeroid-Lipodystrophy Syndrome:

⁴⁰

Skin

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Publications for Marfanoid-Progeroid-Lipodystrophy Syndrome

Articles related to Marfanoid-Progeroid-Lipodystrophy Syndrome:

(show all 11)

#	Title	Authors	PMID	Year
1	Neonatal progeroid variant of Marfan syndrome with congenital lipodystrophy results from mutations at the 3' end of FBN1 gene. ⁶ ⁵⁷ ⁶¹	Jacquinet A...Debray FG	24613577	2014
2	Asprosin, a Fasting-Induced Glucogenic Protein Hormone. ⁵⁷ ⁶	Romere C...Chopra AR	27087445	2016
3	Severe congenital lipodystrophy and a progeroid appearance: Mutation in the penultimate exon of FBN1 causing a recognizable phenotype. ⁵⁷ ⁶	Takenouchi T...Kosaki K	24039054	2013
4	Progeroid facial features and lipodystrophy associated with a novel splice site mutation in the final intron of the FBN1 gene. ⁶ ⁵⁷	Horn D...Robinson PN	21594993	2011
5	Further evidence for a marfanoid syndrome with neonatal progeroid features and severe generalized lipodystrophy due to frameshift mutations near the 3' end of the FBN1 gene. ⁵⁷ ⁶	Goldblatt J...Walpole I	21594992	2011
6	Marfan syndrome with neonatal progeroid syndrome-like lipodystrophy associated with a novel frameshift mutation at the 3' terminus of the FBN1-gene. ⁵⁷ ⁶	Graul-Neumann LM...Passarge E	20979188	2010
7	Marfanoid-progeroid-lipodystrophy syndrome: a newly recognized fibrillinopathy. ⁶¹ ⁵⁷	Passarge E...Graul-Neumann LM	26860060	2016
8	Asprosin is a centrally acting orexigenic hormone. ⁵⁷	Duerrschmid C...Chopra AR	29106398	2017
9	Body fat distribution and metabolic variables in patients with neonatal progeroid syndrome. ⁵⁷	O'Neill B...Garg A	17523150	2007
10	Fibrillin-1 and fibrillin-1-derived asprosin in adipose tissue function and metabolic disorders. ⁶¹	Muthu ML...Reinhardt DP	32279186	2020
11	Genetic and molecular mechanism for distinct clinical phenotypes conveyed by allelic truncating mutations implicated in FBN1. ⁶¹	Lin M...Wu N	31774634	2020

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Genes for Marfanoid-Progeroid-Lipodystrophy Syndrome

Genes related to Marfanoid-Progeroid-Lipodystrophy Syndrome (2 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	FBN1	Fibrillin 1	Protein Coding	1701.37	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁸ Causative variation ⁷² Genetic Tests ²⁹ Likely pathogenic ⁶ GeneCards inferred via : Disorders Publications Variants (show sections)	20979188 21594992 21594993
2	LOC113939944	Sharpr-MPRA Regulatory Region 9539	Biological Region	400	Pathogenic ⁶

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Variations for Marfanoid-Progeroid-Lipodystrophy Syndrome

ClinVar genetic disease variations for Marfanoid-Progeroid-Lipodystrophy Syndrome:

⁶ (show top 50) (show all 74)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	FBN1	NM_000138.4(FBN1):c.8155_8156del (p.Lys2719fs)	Deletion	Pathogenic	40243	rs398122831	GRCh37: 15:48704836-48704837 GRCh38: 15:48412639-48412640
2	FBN1	NM_000138.4(FBN1):c.8156_8175del (p.Lys2719fs)	Deletion	Pathogenic	40244	rs398122832	GRCh37: 15:48704817-48704836 GRCh38: 15:48412620-48412639
3	FBN1	NM_000138.4(FBN1):c.8226+1G>T	SNV	Pathogenic	40245	rs398122833	GRCh37: 15:48704765-48704765 GRCh38: 15:48412568-48412568
4	FBN1	NM_000138.4(FBN1):c.8175_8182del (p.Arg2726fs)	Deletion	Pathogenic	225628	rs876657410	GRCh37: 15:48704810-48704817 GRCh38: 15:48412613-48412620
5	FBN1	NM_000138.4(FBN1):c.8275_8291del (p.Glu2759fs)	Deletion	Pathogenic	617941	rs1566888718	GRCh37: 15:48703512-48703528 GRCh38: 15:48411315-48411331
6	FBN1	NM_000138.5(FBN1):c.3222C>A (p.Cys1074Ter)	SNV	Pathogenic	930751		GRCh37: 15:48780425-48780425 GRCh38: 15:48488228-48488228
7	FBN1	NM_000138.5(FBN1):c.3083-2A>G	SNV	Pathogenic	931144		GRCh37: 15:48780692-48780692 GRCh38: 15:48488495-48488495
8	FBN1	NM_000138.4(FBN1):c.3856del (p.Asp1285_Leu1286insTer)	Deletion	Pathogenic	439716	rs1555398170	GRCh37: 15:48773960-48773960 GRCh38: 15:48481763-48481763
9	LOC113939944 , FBN1	NM_000138.5(FBN1):c.1147G>T (p.Glu383Ter)	SNV	Pathogenic	931435		GRCh37: 15:48812856-48812856 GRCh38: 15:48520659-48520659
10	FBN1	NM_000138.5(FBN1):c.526dup (p.Gln176fs)	Duplication	Pathogenic	931484		GRCh37: 15:48888491-48888492 GRCh38: 15:48596294-48596295
11	FBN1	NM_000138.5(FBN1):c.2111C>G (p.Ser704Ter)	SNV	Pathogenic	931858		GRCh37: 15:48795986-48795986 GRCh38: 15:48503789-48503789
12	FBN1	NM_000138.5(FBN1):c.8226+1G>A	SNV	Pathogenic	225629	rs398122833	GRCh37: 15:48704765-48704765 GRCh38: 15:48412568-48412568
13	FBN1	NM_000138.5(FBN1):c.1468+5G>A	SNV	Pathogenic	42284	rs397515757	GRCh37: 15:48807579-48807579 GRCh38: 15:48515382-48515382
14	FBN1	NM_000138.5(FBN1):c.3712G>A	SNV	Pathogenic	200022	rs794728208	GRCh37: 15:48777571-48777571 GRCh38: 15:48485374-48485374
15	FBN1	NM_000138.5(FBN1):c.2645C>T	SNV	Pathogenic	200001	rs794728195	GRCh37: 15:48787352-48787352 GRCh38: 15:48495155-48495155
16	FBN1	NM_000138.4(FBN1):c.1633C>T (p.Arg545Cys)	SNV	Pathogenic	180352	rs730880099	GRCh37: 15:48802322-48802322 GRCh38: 15:48510125-48510125
17	FBN1	NM_000138.5(FBN1):c.4588C>T (p.Arg1530Cys)	SNV	Pathogenic	36078	rs111401431	GRCh37: 15:48760294-48760294 GRCh38: 15:48468097-48468097
18	FBN1	NM_000138.5(FBN1):c.718C>T (p.Arg240Cys)	SNV	Pathogenic	16461	rs137854480	GRCh37: 15:48829826-48829826 GRCh38: 15:48537629-48537629
19	FBN1	NM_000138.4(FBN1):c.2305_2315del (p.Cys769fs)	Deletion	Pathogenic	625943	rs1566911957	GRCh37: 15:48788401-48788411 GRCh38: 15:48496204-48496214
20	FBN1	NM_000138.5(FBN1):c.1879C>T (p.Arg627Cys)	SNV	Pathogenic	163480	rs727503057	GRCh37: 15:48797303-48797303 GRCh38: 15:48505106-48505106
21	FBN1	NM_000138.4(FBN1):c.4388A>G (p.Asn1463Ser)	SNV	Pathogenic	523334	rs1555397413	GRCh37: 15:48762902-48762902 GRCh38: 15:48470705-48470705
22	LOC113939944 , FBN1	NM_000138.4(FBN1):c.1010dup (p.Tyr337Ter)	Duplication	Pathogenic	572222	rs1566918075	GRCh37: 15:48812992-48812993 GRCh38: 15:48520795-48520796
23	FBN1	NM_000138.4(FBN1):c.2581C>T (p.Arg861Ter)	SNV	Pathogenic	265401	rs140583	GRCh37: 15:48787416-48787416 GRCh38: 15:48495219-48495219
24	FBN1	NM_000138.5(FBN1):c.4786C>T (p.Arg1596Ter)	SNV	Pathogenic	36082	rs113871094	GRCh37: 15:48758017-48758017 GRCh38: 15:48465820-48465820
25	FBN1	NM_000138.5(FBN1):c.6806T>C (p.Ile2269Thr)	SNV	Pathogenic	36107	rs193922228	GRCh37: 15:48722933-48722933 GRCh38: 15:48430736-48430736
26	FBN1	NM_000138.4(FBN1):c.7828G>A (p.Glu2610Lys)	SNV	Pathogenic	264272	rs111984349	GRCh37: 15:48707956-48707956 GRCh38: 15:48415759-48415759
27	FBN1	NM_000138.5(FBN1):c.1948C>T	SNV	Pathogenic	36042	rs193922185	GRCh37: 15:48797234-48797234 GRCh38: 15:48505037-48505037
28	FBN1	NM_000138.5(FBN1):c.643C>T (p.Arg215Ter)	SNV	Pathogenic	42401	rs111687884	GRCh37: 15:48829901-48829901 GRCh38: 15:48537704-48537704
29	FBN1	NM_000138.4(FBN1):c.4388A>G (p.Asn1463Ser)	SNV	Likely pathogenic	523334	rs1555397413	GRCh37: 15:48762902-48762902 GRCh38: 15:48470705-48470705
30	FBN1	NM_000138.4(FBN1):c.6388G>A (p.Glu2130Lys)	SNV	Likely pathogenic	200191	rs794728334	GRCh37: 15:48729266-48729266 GRCh38: 15:48437069-48437069
31	FBN1	NM_000138.4(FBN1):c.4460-8G>A	SNV	Likely pathogenic	36075	rs193922204	GRCh37: 15:48760739-48760739 GRCh38: 15:48468542-48468542
32	FBN1	NM_000138.4(FBN1):c.3413G>C (p.Cys1138Ser)	SNV	Likely pathogenic	495590	rs397515791	GRCh37: 15:48779559-48779559 GRCh38: 15:48487362-48487362
33	FBN1	NM_000138.5(FBN1):c.315_318dup (p.Ile107fs)	Duplication	Likely pathogenic	828001	rs1597631624	GRCh37: 15:48902952-48902953 GRCh38: 15:48610755-48610756
34	FBN1	NM_000138.4(FBN1):c.2669G>A (p.Cys890Tyr)	SNV	Likely pathogenic	431935	rs1555399144	GRCh37: 15:48787328-48787328 GRCh38: 15:48495131-48495131
35	FBN1	NM_000138.5(FBN1):c.2645C>T	SNV	Likely pathogenic	200001	rs794728195	GRCh37: 15:48787352-48787352 GRCh38: 15:48495155-48495155
36	FBN1	NM_000138.4(FBN1):c.6183T>A (p.Cys2061Ter)	SNV	Likely pathogenic	626100	rs71467648	GRCh37: 15:48730095-48730095 GRCh38: 15:48437898-48437898
37	FBN1	NM_000138.4(FBN1):c.6661T>C (p.Cys2221Arg)	SNV	Likely pathogenic	439708	rs113543334	GRCh37: 15:48725141-48725141 GRCh38: 15:48432944-48432944
38	FBN1	NM_000138.4(FBN1):c.5546-1G>A	SNV	Likely pathogenic	626102	rs1566899590	GRCh37: 15:48741091-48741091 GRCh38: 15:48448894-48448894
39	FBN1	NM_000138.5(FBN1):c.7754T>C (p.Ile2585Thr)	SNV	Likely pathogenic	163462	rs727503054	GRCh37: 15:48712949-48712949 GRCh38: 15:48420752-48420752
40	FBN1	NM_000138.4(FBN1):c.4049G>T (p.Cys1350Phe)	SNV	Likely pathogenic	549204	rs1555397718	GRCh37: 15:48766763-48766763 GRCh38: 15:48474566-48474566
41	FBN1	NM_000138.4(FBN1):c.1462T>C (p.Cys488Arg)	SNV	Likely pathogenic	457162	rs1555400373	GRCh37: 15:48807590-48807590 GRCh38: 15:48515393-48515393
42	FBN1	NM_000138.4(FBN1):c.2600A>G (p.Asn867Ser)	SNV	Uncertain significance	519804	rs145464311	GRCh37: 15:48787397-48787397 GRCh38: 15:48495200-48495200
43	FBN1	NM_000138.4(FBN1):c.2206A>G (p.Asn736Asp)	SNV	Uncertain significance	237085	rs878853678	GRCh37: 15:48789550-48789550 GRCh38: 15:48497353-48497353
44	FBN1	NM_000138.4(FBN1):c.793A>T (p.Thr265Ser)	SNV	Uncertain significance	527175	rs982468949	GRCh37: 15:48826346-48826346 GRCh38: 15:48534149-48534149
45	FBN1	NM_000138.5(FBN1):c.164+5A>G	SNV	Uncertain significance	42289	rs397515760	GRCh37: 15:48936798-48936798 GRCh38: 15:48644601-48644601
46	FBN1	NM_000138.4(FBN1):c.83A>G (p.Asn28Ser)	SNV	Uncertain significance	36130	rs193922245	GRCh37: 15:48936884-48936884 GRCh38: 15:48644687-48644687
47	FBN1	NM_000138.4(FBN1):c.8232G>C (p.Gln2744His)	SNV	Uncertain significance	457269	rs376119827	GRCh37: 15:48703571-48703571 GRCh38: 15:48411374-48411374
48	FBN1	NM_000138.4(FBN1):c.8027C>T (p.Pro2676Leu)	SNV	Uncertain significance	418202	rs146469379	GRCh37: 15:48707757-48707757 GRCh38: 15:48415560-48415560
49	FBN1	NM_000138.5(FBN1):c.7852G>A (p.Gly2618Arg)	SNV	Uncertain significance	42434	rs141133182	GRCh37: 15:48707932-48707932 GRCh38: 15:48415735-48415735
50	FBN1	NM_000138.5(FBN1):c.4727T>C (p.Met1576Thr)	SNV	Uncertain significance	200054	rs776625874	GRCh37: 15:48760155-48760155 GRCh38: 15:48467958-48467958

UniProtKB/Swiss-Prot genetic disease variations for Marfanoid-Progeroid-Lipodystrophy Syndrome:

⁷²

#	Symbol	AA change	Variation ID	SNP ID
1	FBN1	p.Ile2741Thr	VAR_076160	rs140993171

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Expression for Marfanoid-Progeroid-Lipodystrophy Syndrome

Search GEO for disease gene expression data for Marfanoid-Progeroid-Lipodystrophy Syndrome.

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Pathways for Marfanoid-Progeroid-Lipodystrophy Syndrome

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GO Terms for Marfanoid-Progeroid-Lipodystrophy Syndrome

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Sources for Marfanoid-Progeroid-Lipodystrophy Syndrome

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⁵⁷ OMIM® (Updated 20-May-2021)

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⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ Tocris

⁷⁰ UMLS

⁷¹ UMLS via Orphanet

⁷² UniProtKB/Swiss-Prot

⁷³ Wikipedia

Marfanoid-Progeroid-Lipodystrophy Syndrome (MFLS)

Aliases & Classifications for Marfanoid-Progeroid-Lipodystrophy Syndrome

MalaCards integrated aliases for Marfanoid-Progeroid-Lipodystrophy Syndrome:

Characteristics:

Orphanet epidemiological data:

OMIM®:

HPO:

Classifications:

External Ids:

Summaries for Marfanoid-Progeroid-Lipodystrophy Syndrome

Related Diseases for Marfanoid-Progeroid-Lipodystrophy Syndrome

Diseases related to Marfanoid-Progeroid-Lipodystrophy Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Marfanoid-Progeroid-Lipodystrophy Syndrome:

Symptoms & Phenotypes for Marfanoid-Progeroid-Lipodystrophy Syndrome

Human phenotypes related to Marfanoid-Progeroid-Lipodystrophy Syndrome:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

Drugs & Therapeutics for Marfanoid-Progeroid-Lipodystrophy Syndrome

Interventional clinical trials:

Genetic Tests for Marfanoid-Progeroid-Lipodystrophy Syndrome

Genetic tests related to Marfanoid-Progeroid-Lipodystrophy Syndrome:

Anatomical Context for Marfanoid-Progeroid-Lipodystrophy Syndrome

MalaCards organs/tissues related to Marfanoid-Progeroid-Lipodystrophy Syndrome:

Publications for Marfanoid-Progeroid-Lipodystrophy Syndrome

Articles related to Marfanoid-Progeroid-Lipodystrophy Syndrome:

Genes for Marfanoid-Progeroid-Lipodystrophy Syndrome

Genes related to Marfanoid-Progeroid-Lipodystrophy Syndrome (2 elite genes):

Variations for Marfanoid-Progeroid-Lipodystrophy Syndrome

ClinVar genetic disease variations for Marfanoid-Progeroid-Lipodystrophy Syndrome:

UniProtKB/Swiss-Prot genetic disease variations for Marfanoid-Progeroid-Lipodystrophy Syndrome:

Expression for Marfanoid-Progeroid-Lipodystrophy Syndrome

Pathways for Marfanoid-Progeroid-Lipodystrophy Syndrome

GO Terms for Marfanoid-Progeroid-Lipodystrophy Syndrome

Sources for Marfanoid-Progeroid-Lipodystrophy Syndrome