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

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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 ⁷³ ⁷⁵

Progeroid and Marfanoid Aspect-Lipodystrophy Syndrome ⁵⁸ ²⁸ ⁵

Marfan-Progeroid-Lipodystrophy Syndrome ⁵⁷ ⁷³

Marfan Lipodystrophy Syndrome ⁵⁷ ⁷³

Marfanoid-Progeroid Syndrome ⁵⁷ ⁷³

Mfls ⁵⁷ ⁷³

Lipodystrophy, Marfan Syndrome ³⁸

Characteristics:

Inheritance:

Marfanoid-Progeroid-Lipodystrophy Syndrome: Autosomal dominant ⁵⁷

Progeroid and Marfanoid Aspect-Lipodystrophy Syndrome: Autosomal dominant ⁵⁸

Prevelance:

Progeroid and Marfanoid Aspect-Lipodystrophy Syndrome: <1/1000000 (Worldwide) ⁵⁸

Age Of Onset:

Progeroid and Marfanoid Aspect-Lipodystrophy Syndrome: Infancy,Neonatal ⁵⁸

Classifications:

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

See all MalaCards categories (disease lists)

ICD10: ³²

Endocrine, nutritional and metabolic diseases

Metabolic disorders

Other metabolic disorders

Lipodystrophy, not elsewhere classified

Orphanet: ⁵⁸

Rare systemic and rhumatological diseases

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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 08-Dec-2022)

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

Orphanet: ⁵⁸ Progeroid and marfanoid aspect-lipodystrophy syndrome is a rare systemic disease characterized by a neonatal progeroid appearance (not associated with other manifestations of premature aging) associated with facial dysmorphism (e.g. macrocephaly or arrested hydrocephaly, proptosis, downslanting palpebral fissures, retrognathia), generalized, extreme, congenital lack of subcutaneous fat tissue (except in the breast and iliac region) and incomplete signs of Marfan syndrome (mainly severe myopia, joint hyperextensibility and arachnodactyly). Metabolic disturbances are not associated.

UniProtKB/Swiss-Prot: ⁷³ 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: ⁷⁵ 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:

#	Related Disease	Score	Top Affiliating Genes
1	marfan syndrome	29.7	LOC113939944 FBN1
2	acromicric dysplasia	10.2
3	geleophysic dysplasia 2	10.2
4	aortic aneurysm, familial thoracic 4	9.7	LOC113939944 FBN1
5	achondroplasia	9.6	LOC113939944 FBN1
6	aortic aneurysm, familial thoracic 1	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:

³⁰ (show all 46)

#	Description	HPO Frequency	HPO Source Accession
1	hypertension ³⁰	Occasional (7.5%)	HP:0000822
2	macrocephaly ³⁰	Very rare (1%)	HP:0000256
3	kyphosis ³⁰	Very rare (1%)	HP:0002808
4	hydrocephalus ³⁰	Very rare (1%)	HP:0000238
5	hypotonia ³⁰	Very rare (1%)	HP:0001252
6	feeding difficulties in infancy ³⁰	Very rare (1%)	HP:0008872
7	prominent forehead ³⁰	Very rare (1%)	HP:0011220
8	lipoatrophy ³⁰	Very rare (1%)	HP:0100578
9	intrauterine growth retardation ³⁰	Very rare (1%)	HP:0001511
10	retrognathia ³⁰	Very rare (1%)	HP:0000278
11	high, narrow palate ³⁰	Very rare (1%)	HP:0002705
12	melanocytic nevus ³⁰	Very rare (1%)	HP:0000995
13	scapular winging ³⁰	Very rare (1%)	HP:0003691
14	motor delay ³⁰	Very rare (1%)	HP:0001270
15	mitral valve prolapse ³⁰	Very rare (1%)	HP:0001634
16	arachnodactyly ³⁰	Very rare (1%)	HP:0001166
17	ectopia lentis ³⁰	Very rare (1%)	HP:0001083
18	dural ectasia ³⁰	Very rare (1%)	HP:0100775
19	downslanted palpebral fissures ³⁰	Very rare (1%)	HP:0000494
20	deeply set eye ³⁰	Very rare (1%)	HP:0000490
21	proptosis ³⁰	Very rare (1%)	HP:0000520
22	reduced visual acuity ³⁰	Very rare (1%)	HP:0007663
23	prominent nasal bridge ³⁰	Very rare (1%)	HP:0000426
24	broad forehead ³⁰	Very rare (1%)	HP:0000337
25	narrow chest ³⁰	Very rare (1%)	HP:0000774
26	tall stature ³⁰	Very rare (1%)	HP:0000098
27	triangular face ³⁰	Very rare (1%)	HP:0000325
28	premature birth ³⁰	Very rare (1%)	HP:0001622
29	keratoconjunctivitis sicca ³⁰	Very rare (1%)	HP:0001097
30	aortic root aneurysm ³⁰	Very rare (1%)	HP:0002616
31	high myopia ³⁰	Very rare (1%)	HP:0011003
32	progeroid facial appearance ³⁰	Very rare (1%)	HP:0005328
33	generalized lipodystrophy ³⁰	Very rare (1%)	HP:0009064
34	absence of subcutaneous fat ³⁰	Very rare (1%)	HP:0007485
35	narrow nose ³⁰	Very rare (1%)	HP:0000460
36	narrow nasal ridge ³⁰	Very rare (1%)	HP:0000418
37	pes valgus ³⁰	Very rare (1%)	HP:0008081
38	hyperextensibility of the finger joints ³⁰	Very rare (1%)	HP:0001187
39	lateral ventricular asymmetry ³⁰	Very rare (1%)	HP:0100960
40	pes planus ³⁰		HP:0001763
41	pectus excavatum ³⁰		HP:0000767
42	bruising susceptibility ³⁰		HP:0000978
43	craniosynostosis ³⁰		HP:0001363
44	oligohydramnios ³⁰		HP:0001562
45	reduced subcutaneous adipose tissue ³⁰		HP:0003758
46	scaphocephaly ³⁰		HP:0030799

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 08-Dec-2022)

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 08-Dec-2022)

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Drugs & Therapeutics for Marfanoid-Progeroid-Lipodystrophy Syndrome

Search Clinical Trials, 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	Progeroid and Marfanoid Aspect-Lipodystrophy Syndrome ²⁸	FBN1

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Anatomical Context for Marfanoid-Progeroid-Lipodystrophy Syndrome

Organs/tissues related to Marfanoid-Progeroid-Lipodystrophy Syndrome:

MalaCards : Breast, Bone, Eye, Bone Marrow, Brain

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Publications for Marfanoid-Progeroid-Lipodystrophy Syndrome

Articles related to Marfanoid-Progeroid-Lipodystrophy Syndrome:

(show top 50) (show all 72)

#	Title	Authors	PMID	Year
1	Neonatal progeroid variant of Marfan syndrome with congenital lipodystrophy results from mutations at the 3' end of FBN1 gene. ⁶² ⁵⁷ ⁵	Jacquinet A...Debray FG	24613577	2014
2	Severe congenital lipodystrophy and a progeroid appearance: Mutation in the penultimate exon of FBN1 causing a recognizable phenotype. ⁶² ⁵⁷ ⁵	Takenouchi T...Kosaki K	24039054	2013
3	Asprosin, a Fasting-Induced Glucogenic Protein Hormone. ⁵⁷ ⁵	Romere C...Chopra AR	27087445	2016
4	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 ⁵	Goldblatt J...Walpole I	21594992	2011
5	Progeroid facial features and lipodystrophy associated with a novel splice site mutation in the final intron of the FBN1 gene. ⁵⁷ ⁵	Horn D...Robinson PN	21594993	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 ⁵	Graul-Neumann LM...Passarge E	20979188	2010
7	Marfanoid-progeroid-lipodystrophy syndrome: a newly recognized fibrillinopathy. ⁶² 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	Three-dimensional close-to-substrate trajectories of magnetic microparticles in dynamically changing magnetic field landscapes. ⁶²	Huhnstock R...Ehresmann A	36463293	2022
11	A Dataset with Multibeam Forward-Looking Sonar for Underwater Object Detection. ⁶²	Xie K...Qiu K	36456623	2022
12	Ultraviolet-Infrared Mixing in Marginal Fermi Liquids. ⁶²	Ye W...Zou L	35333078	2022
13	Preparation of layering-structured magnetic fluorescent liposomes and labeling of HepG2 cells. ⁶²	Chen M...Zhao Q	35180107	2022
14	Myopia Control With Multifocal Lens in School-Aged Children: A Meta-Analysis. ⁶²	Chen M...Wu Y	35795335	2022
15	The influence of the morphometric parameters of the intercondylar notch on occurrence of meniscofemoral ligaments. ⁶²	Minic M...Jeremic D	33438187	2022
16	Prevalence, Biomechanics, and Pathologies of the Meniscofemoral Ligaments: A Systematic Review. ⁶²	Deckey DG...Chhabra A	34977667	2021
17	Cannabinoid receptor type 2 is upregulated in synovium following joint injury and mediates anti-inflammatory effects in synovial fibroblasts and macrophages. ⁶²	Rzeczycki P...Maerz T	34537380	2021
18	Virus-templated magnetic composite hydrogels for surface immobilization of mimic-free-lipase. ⁶²	Qi W...Yu H	34673862	2021
19	Boosting 5-ALA-based photodynamic therapy by a liposomal nanomedicine through intracellular iron ion regulation. ⁶²	Li A...Shi J	34094837	2021
20	Posterior cruciate ligament: Anatomy, femoral insertion and relationships with the anterior menisco-femoral ligament in 23 cadaver knees. ⁶²	Cousin J...Hamel A	33333270	2021
21	Underwater Localization and Mapping Based on Multi-Beam Forward Looking Sonar. ⁶²	Cheng C...Zhang F	35095458	2021
22	MicroRNA-21 from bone marrow mesenchymal stem cell-derived extracellular vesicles targets TET1 to suppress KLF4 and alleviate rheumatoid arthritis. ⁶²	Li GQ...Liu D	33995992	2021
23	Three-dimensional computed tomography confirmed that the meniscal root attachments and meniscofemoral ligaments are morphologically consistent. ⁶²	Tanifuji K...Doita M	32561958	2020
24	Fibrillin-1 and fibrillin-1-derived asprosin in adipose tissue function and metabolic disorders. ⁶²	Muthu ML...Reinhardt DP	32279186	2020
25	Antitumor Efficacy of Focused Ultrasound-MFL Nanoparticles Combination Therapy in Mouse Breast Cancer Xenografts. ⁶²	Kim D...Lee HJ	32121631	2020
26	Role of the Meniscofemoral Ligaments in the Stability of the Posterior Lateral Meniscus Root After Injury in the ACL-Deficient Knee. ⁶²	Knapik DM...Karns MR	32105238	2020
27	Genetic and molecular mechanism for distinct clinical phenotypes conveyed by allelic truncating mutations implicated in FBN1. ⁶²	Lin M...Wu N	31774634	2020
28	Sequential Intercellular Delivery Nanosystem for Enhancing ROS-Induced Antitumor Therapy. ⁶²	Wang B...Zhang Z	31034238	2019
29	Evaluation of age-dependent morphometrics of the meniscofemoral ligaments in reference to the posterior cruciate ligament in routine MRI. ⁶²	Rohrich S...Hirtler L	29322332	2018
30	Fatigue Bending Strength of Jones Fracture Specific Screw Fixation. ⁶²	Jastifer J...McCullough KA	29254446	2018
31	Size limits of magnetic-domain engineering in continuous in-plane exchange-bias prototype films. ⁶²	Gaul A...Ehresmann A	30591845	2018
32	3-Tesla MRI: Beneficial visualization of the meniscofemoral ligaments? ⁶²	Ebrecht J...Prescher A	28774675	2017
33	How could discharge management affect Florida spring fish assemblage structure? ⁶²	Work K...Gibbs M	28475965	2017
34	Lateral Meniscus Posterior Root and Meniscofemoral Ligaments as Stabilizing Structures in the ACL-Deficient Knee: A Biomechanical Study. ⁶²	Frank JM...LaPrade RF	28660229	2017
35	Complete posterolateral meniscal root tear is associated with high-grade pivot-shift phenomenon in noncontact anterior cruciate ligament injuries. ⁶²	Song GY...Feng H	28280904	2017
36	Fracture Resistance of Lithium Disilicate Ceramics Bonded to Enamel or Dentin Using Different Resin Cement Types and Film Thicknesses. ⁶²	Rojpaibool T...Leevailoj C	26505488	2017
37	Codon optimization of Saccharomyces cerevisiae mating factor alpha prepro-leader to improve recombinant protein production in Pichia pastoris. ⁶²	Ahn J...Lee DY	27613154	2016
38	Prevalence of Lateral Meniscal Extrusion for Posterior Lateral Meniscal Root Lesion With and Without Concomitant Midbody Radial Tear in Anterior Cruciate Ligament Injury. ⁶²	Shen JW...Feng H	26603753	2016
39	Influence of lateral meniscal posterior root avulsions and the meniscofemoral ligaments on tibiofemoral contact mechanics. ⁶²	Geeslin AG...LaPrade RF	26249111	2016
40	Potential use cases for the development of an electronic health facility registry in Nigeria: Key informant's perspectives. ⁶²	Makinde OA...Adebayo W	28149447	2016
41	Liposomes loaded with hydrophilic magnetite nanoparticles: Preparation and application as contrast agents for magnetic resonance imaging. ⁶²	German SV...Gorin DA	26241922	2015
42	Design methodology accounting for fabrication errors in manufactured modified Fresnel lenses for controlled LED illumination. ⁶²	Shim J...Kang S	26367631	2015
43	Different patterns of lateral meniscus root tears in ACL injuries: application of a differentiated classification system. ⁶²	Forkel P...Petersen W	25502611	2015
44	Selective photosensitizer delivery into plasma membrane for effective photodynamic therapy. ⁶²	Kim J...Park JH	24892975	2014
45	Neural Structures within Human Meniscofemoral Ligaments: A Cadaveric Study. ⁶²	Gupte CM...Amis AA	25938111	2014
46	Effect of multifocal lens glasses on the stepping patterns of novice wearers. ⁶²	Beschorner KE...Smith RO	23770232	2013
47	Influence of combined cyclic fatigue and torsional stress on the fracture point of nickel-titanium rotary instruments. ⁶²	Setzer FC...Bohme CP	23228273	2013
48	The posterior meniscofemoral ligament: morphologic study and anatomic classification. ⁶²	Han SH...Kim YS	22109107	2012
49	Magnetic resonance diagnosis of posterior horn tears of the lateral meniscus using a thin axial plane: the zip sign--a preliminary study. ⁶²	Savoye PY...Ferretti G	20644938	2011
50	Signification of the unusual delineation of the anterior meniscofemoral ligament of Humphrey during knee arthro-CT. ⁶²	Coulier B	18827955	2009

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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	1692.34	Molecular basis known ⁵⁷ Pathogenic ⁵ Causative germline mutation ⁵⁸ Causative variation ⁷³ Genetic Tests ²⁸ Likely pathogenic ⁵ GeneCards inferred via : Disorders Publications (show sections)	20979188 21594992 21594993 (more) 24039054 27087445 24613577
2	LOC113939944	Sharpr-MPRA Regulatory Region 9539	Functional Element	400	Pathogenic ⁵

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Variations for Marfanoid-Progeroid-Lipodystrophy Syndrome

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

⁵ (show top 50) (show all 83)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	FBN1	NM_000138.5(FBN1):c.8155_8156del (p.Lys2719fs)	DEL	Pathogenic	40243	rs398122831	GRCh37: 15:48704836-48704837 GRCh38: 15:48412639-48412640
2	FBN1	NM_000138.5(FBN1):c.8156_8175del (p.Lys2719fs)	DEL	Pathogenic	40244	rs398122832	GRCh37: 15:48704817-48704836 GRCh38: 15:48412620-48412639
3	FBN1	NM_000138.5(FBN1):c.8226+1G>T	SNV	Pathogenic	40245	rs398122833	GRCh37: 15:48704765-48704765 GRCh38: 15:48412568-48412568
4	FBN1	NM_000138.5(FBN1):c.8175_8182del (p.Arg2726fs)	DEL	Pathogenic	225628	rs876657410	GRCh37: 15:48704810-48704817 GRCh38: 15:48412613-48412620
5	LOC113939944, FBN1	NM_000138.5(FBN1):c.1010dup (p.Tyr337Ter)	DUP	Pathogenic	572222	rs1566918075	GRCh37: 15:48812992-48812993 GRCh38: 15:48520795-48520796
6	FBN1	NM_000138.5(FBN1):c.3083-2A>G	SNV	Pathogenic	931144	rs2043529474	GRCh37: 15:48780692-48780692 GRCh38: 15:48488495-48488495
7	FBN1	NM_000138.5(FBN1):c.526dup (p.Gln176fs)	DUP	Pathogenic	931484	rs2044514951	GRCh37: 15:48888491-48888492 GRCh38: 15:48596294-48596295
8	FBN1	NM_000138.5(FBN1):c.2111C>G (p.Ser704Ter)	SNV	Pathogenic	931858	rs2043683891	GRCh37: 15:48795986-48795986 GRCh38: 15:48503789-48503789
9	FBN1	NM_000138.5(FBN1):c.3712G>A (p.Asp1238Asn)	SNV	Pathogenic	200022	rs794728208	GRCh37: 15:48777571-48777571 GRCh38: 15:48485374-48485374
10	FBN1	NM_000138.5(FBN1):c.2645C>T (p.Ala882Val)	SNV	Pathogenic Likely Pathogenic	200001	rs794728195	GRCh37: 15:48787352-48787352 GRCh38: 15:48495155-48495155
11	FBN1	NM_000138.5(FBN1):c.1948C>T (p.Arg650Cys)	SNV	Pathogenic	36042	rs193922185	GRCh37: 15:48797234-48797234 GRCh38: 15:48505037-48505037
12	FBN1	NM_000138.5(FBN1):c.1633C>T (p.Arg545Cys)	SNV	Pathogenic	180352	rs730880099	GRCh37: 15:48802322-48802322 GRCh38: 15:48510125-48510125
13	FBN1	NM_000138.5(FBN1):c.8275_8291del (p.Glu2759fs)	DEL	Pathogenic	617941	rs1566888718	GRCh37: 15:48703512-48703528 GRCh38: 15:48411315-48411331
14	FBN1	NM_000138.5(FBN1):c.3222C>A (p.Cys1074Ter)	SNV	Pathogenic	930751	rs2043525934	GRCh37: 15:48780425-48780425 GRCh38: 15:48488228-48488228
15	FBN1	NM_000138.5(FBN1):c.3534dup (p.Gln1179fs)	DUP	Pathogenic	1691279		GRCh37: 15:48779326-48779327 GRCh38: 15:48487129-48487130
16	FBN1	NM_000138.5(FBN1):c.4786C>T (p.Arg1596Ter)	SNV	Pathogenic	36082	rs113871094	GRCh37: 15:48758017-48758017 GRCh38: 15:48465820-48465820
17	FBN1	NM_000138.5(FBN1):c.6806T>C (p.Ile2269Thr)	SNV	Pathogenic	36107	rs193922228	GRCh37: 15:48722933-48722933 GRCh38: 15:48430736-48430736
18	FBN1	NM_000138.5(FBN1):c.1468+5G>A	SNV	Pathogenic	42284	rs397515757	GRCh37: 15:48807579-48807579 GRCh38: 15:48515382-48515382
19	FBN1	NM_000138.5(FBN1):c.4588C>T (p.Arg1530Cys)	SNV	Pathogenic	36078	rs111401431	GRCh37: 15:48760294-48760294 GRCh38: 15:48468097-48468097
20	FBN1	NM_000138.5(FBN1):c.718C>T (p.Arg240Cys)	SNV	Pathogenic	16461	rs137854480	GRCh37: 15:48829826-48829826 GRCh38: 15:48537629-48537629
21	FBN1	NM_000138.5(FBN1):c.7828G>A (p.Glu2610Lys)	SNV	Pathogenic	264272	rs111984349	GRCh37: 15:48707956-48707956 GRCh38: 15:48415759-48415759
22	FBN1	NM_000138.5(FBN1):c.2581C>T (p.Arg861Ter)	SNV	Pathogenic	265401	rs140583	GRCh37: 15:48787416-48787416 GRCh38: 15:48495219-48495219
23	FBN1	NM_000138.5(FBN1):c.2305_2315del (p.Cys769fs)	DEL	Pathogenic	625943	rs1566911957	GRCh37: 15:48788401-48788411 GRCh38: 15:48496204-48496214
24	FBN1	NM_000138.5(FBN1):c.1879C>T (p.Arg627Cys)	SNV	Pathogenic	163480	rs727503057	GRCh37: 15:48797303-48797303 GRCh38: 15:48505106-48505106
25	FBN1	NM_000138.5(FBN1):c.3856del (p.Asp1285_Leu1286insTer)	DEL	Pathogenic	439716	rs1555398170	GRCh37: 15:48773960-48773960 GRCh38: 15:48481763-48481763
26	FBN1	NM_000138.5(FBN1):c.643C>T (p.Arg215Ter)	SNV	Pathogenic	42401	rs111687884	GRCh37: 15:48829901-48829901 GRCh38: 15:48537704-48537704
27	LOC113939944, FBN1	NM_000138.5(FBN1):c.1147G>T (p.Glu383Ter)	SNV	Pathogenic	931435	rs794728325	GRCh37: 15:48812856-48812856 GRCh38: 15:48520659-48520659
28	FBN1	NM_000138.5(FBN1):c.4388A>G (p.Asn1463Ser)	SNV	Pathogenic Likely Pathogenic	523334	rs1555397413	GRCh37: 15:48762902-48762902 GRCh38: 15:48470705-48470705
29	FBN1	NM_000138.5(FBN1):c.5836del (p.Gln1946fs)	DEL	Pathogenic	1675081		GRCh37: 15:48737654-48737654 GRCh38: 15:48445457-48445457
30	FBN1	NM_000138.5(FBN1):c.7754T>C (p.Ile2585Thr)	SNV	Pathogenic/Likely Pathogenic	163462	rs727503054	GRCh37: 15:48712949-48712949 GRCh38: 15:48420752-48420752
31	FBN1	NM_000138.5(FBN1):c.4049G>T (p.Cys1350Phe)	SNV	Likely Pathogenic	549204	rs1555397718	GRCh37: 15:48766763-48766763 GRCh38: 15:48474566-48474566
32	FBN1	NM_000138.5(FBN1):c.6183T>A (p.Cys2061Ter)	SNV	Likely Pathogenic	626100	rs71467648	GRCh37: 15:48730095-48730095 GRCh38: 15:48437898-48437898
33	FBN1	NM_000138.5(FBN1):c.6661T>C (p.Cys2221Arg)	SNV	Likely Pathogenic	439708	rs113543334	GRCh37: 15:48725141-48725141 GRCh38: 15:48432944-48432944
34	FBN1	NM_000138.5(FBN1):c.6388G>A (p.Glu2130Lys)	SNV	Likely Pathogenic	200191	rs794728334	GRCh37: 15:48729266-48729266 GRCh38: 15:48437069-48437069
35	FBN1	NM_000138.5(FBN1):c.5546-1G>A	SNV	Likely Pathogenic	626102	rs1566899590	GRCh37: 15:48741091-48741091 GRCh38: 15:48448894-48448894
36	FBN1	NM_000138.5(FBN1):c.1462T>C (p.Cys488Arg)	SNV	Likely Pathogenic	457162	rs1555400373	GRCh37: 15:48807590-48807590 GRCh38: 15:48515393-48515393
37	FBN1	NM_000138.5(FBN1):c.2669G>A (p.Cys890Tyr)	SNV	Likely Pathogenic	431935	rs1555399144	GRCh37: 15:48787328-48787328 GRCh38: 15:48495131-48495131
38	FBN1	NM_000138.5(FBN1):c.8226+1G>A	SNV	Likely Pathogenic	225629	rs398122833	GRCh37: 15:48704765-48704765 GRCh38: 15:48412568-48412568
39	FBN1	NM_000138.5(FBN1):c.4460-8G>A	SNV	Likely Pathogenic	36075	rs193922204	GRCh37: 15:48760739-48760739 GRCh38: 15:48468542-48468542
40	FBN1	NM_000138.5(FBN1):c.3413G>C (p.Cys1138Ser)	SNV	Likely Pathogenic	495590	rs397515791	GRCh37: 15:48779559-48779559 GRCh38: 15:48487362-48487362
41	FBN1	NM_000138.5(FBN1):c.315_318dup (p.Ile107fs)	DUP	Likely Pathogenic	828001	rs1597631624	GRCh37: 15:48902952-48902953 GRCh38: 15:48610755-48610756
42	FBN1	NM_000138.5(FBN1):c.3337+1dup	DUP	Likely Pathogenic	1527855		GRCh37: 15:48780308-48780309 GRCh38: 15:48488111-48488112
43	FBN1	NM_000138.5(FBN1):c.2200T>C (p.Cys734Arg)	SNV	Likely Pathogenic	1675078		GRCh37: 15:48789556-48789556 GRCh38: 15:48497359-48497359
44	FBN1	NM_000138.5(FBN1):c.69T>C (p.His23=)	SNV	Uncertain Significance	1675079		GRCh37: 15:48936898-48936898 GRCh38: 15:48644701-48644701
45	FBN1	NM_000138.5(FBN1):c.3578T>C (p.Leu1193Pro)	SNV	Uncertain Significance	1675080		GRCh37: 15:48779283-48779283 GRCh38: 15:48487086-48487086
46	FBN1	NM_000138.5(FBN1):c.2419G>A (p.Asp807Asn)	SNV	Uncertain Significance	569969	rs1566911886	GRCh37: 15:48788297-48788297 GRCh38: 15:48496100-48496100
47	FBN1	NM_000138.5(FBN1):c.6164-5T>C	SNV	Uncertain Significance	1675082		GRCh37: 15:48730119-48730119 GRCh38: 15:48437922-48437922
48	FBN1	NM_000138.5(FBN1):c.6244G>C (p.Glu2082Gln)	SNV	Uncertain Significance	828000	rs1052480459	GRCh37: 15:48730034-48730034 GRCh38: 15:48437837-48437837
49	FBN1	NM_000138.5(FBN1):c.6323G>A (p.Arg2108His)	SNV	Uncertain Significance	629518	rs762659907	GRCh37: 15:48729575-48729575 GRCh38: 15:48437378-48437378
50	FBN1	NM_000138.5(FBN1):c.2418A>G (p.Glu806=)	SNV	Uncertain Significance	199996	rs794728191	GRCh37: 15:48788298-48788298 GRCh38: 15:48496101-48496101

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

⁷³

#	Symbol	AA change	Variation ID	SNP ID
1	FBN1	p.Ile2741Thr	VAR_076160	rs1409931715

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MFLS MCID: MRF021 MIFTS: 37	Marfanoid-Progeroid-Lipodystrophy Syndrome (MFLS) Categories: Bone diseases, Genetic diseases, Rare diseases	Data Licensing For inquiries, contact: [email protected]
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Marfanoid-Progeroid-Lipodystrophy Syndrome (MFLS)

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