MFLS
MCID: MRF021
MIFTS: 37

Marfanoid-Progeroid-Lipodystrophy Syndrome (MFLS)

Categories: Bone diseases, Genetic diseases, Rare diseases
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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:

Orphanet: 58  
Rare systemic and rhumatological diseases


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...

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:



Diseases related to Marfanoid-Progeroid-Lipodystrophy Syndrome

Symptoms & Phenotypes for Marfanoid-Progeroid-Lipodystrophy Syndrome

Human phenotypes related to Marfanoid-Progeroid-Lipodystrophy Syndrome:

30 (show all 46)
# Description HPO Frequency Orphanet 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)

Drugs & Therapeutics for Marfanoid-Progeroid-Lipodystrophy Syndrome

Search Clinical Trials, NIH Clinical Center for Marfanoid-Progeroid-Lipodystrophy Syndrome

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

Anatomical Context for Marfanoid-Progeroid-Lipodystrophy Syndrome

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

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

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
24613577 2014
2
Severe congenital lipodystrophy and a progeroid appearance: Mutation in the penultimate exon of FBN1 causing a recognizable phenotype. 62 57 5
24039054 2013
3
Asprosin, a Fasting-Induced Glucogenic Protein Hormone. 57 5
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
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
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
20979188 2010
7
Marfanoid-progeroid-lipodystrophy syndrome: a newly recognized fibrillinopathy. 62 57
26860060 2016
8
Asprosin is a centrally acting orexigenic hormone. 57
29106398 2017
9
Body fat distribution and metabolic variables in patients with neonatal progeroid syndrome. 57
17523150 2007
10
Three-dimensional close-to-substrate trajectories of magnetic microparticles in dynamically changing magnetic field landscapes. 62
36463293 2022
11
A Dataset with Multibeam Forward-Looking Sonar for Underwater Object Detection. 62
36456623 2022
12
Ultraviolet-Infrared Mixing in Marginal Fermi Liquids. 62
35333078 2022
13
Preparation of layering-structured magnetic fluorescent liposomes and labeling of HepG2 cells. 62
35180107 2022
14
Myopia Control With Multifocal Lens in School-Aged Children: A Meta-Analysis. 62
35795335 2022
15
The influence of the morphometric parameters of the intercondylar notch on occurrence of meniscofemoral ligaments. 62
33438187 2022
16
Prevalence, Biomechanics, and Pathologies of the Meniscofemoral Ligaments: A Systematic Review. 62
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
34537380 2021
18
Virus-templated magnetic composite hydrogels for surface immobilization of mimic-free-lipase. 62
34673862 2021
19
Boosting 5-ALA-based photodynamic therapy by a liposomal nanomedicine through intracellular iron ion regulation. 62
34094837 2021
20
Posterior cruciate ligament: Anatomy, femoral insertion and relationships with the anterior menisco-femoral ligament in 23 cadaver knees. 62
33333270 2021
21
Underwater Localization and Mapping Based on Multi-Beam Forward Looking Sonar. 62
35095458 2021
22
MicroRNA-21 from bone marrow mesenchymal stem cell-derived extracellular vesicles targets TET1 to suppress KLF4 and alleviate rheumatoid arthritis. 62
33995992 2021
23
Three-dimensional computed tomography confirmed that the meniscal root attachments and meniscofemoral ligaments are morphologically consistent. 62
32561958 2020
24
Fibrillin-1 and fibrillin-1-derived asprosin in adipose tissue function and metabolic disorders. 62
32279186 2020
25
Antitumor Efficacy of Focused Ultrasound-MFL Nanoparticles Combination Therapy in Mouse Breast Cancer Xenografts. 62
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
32105238 2020
27
Genetic and molecular mechanism for distinct clinical phenotypes conveyed by allelic truncating mutations implicated in FBN1. 62
31774634 2020
28
Sequential Intercellular Delivery Nanosystem for Enhancing ROS-Induced Antitumor Therapy. 62
31034238 2019
29
Evaluation of age-dependent morphometrics of the meniscofemoral ligaments in reference to the posterior cruciate ligament in routine MRI. 62
29322332 2018
30
Fatigue Bending Strength of Jones Fracture Specific Screw Fixation. 62
29254446 2018
31
Size limits of magnetic-domain engineering in continuous in-plane exchange-bias prototype films. 62
30591845 2018
32
3-Tesla MRI: Beneficial visualization of the meniscofemoral ligaments? 62
28774675 2017
33
How could discharge management affect Florida spring fish assemblage structure? 62
28475965 2017
34
Lateral Meniscus Posterior Root and Meniscofemoral Ligaments as Stabilizing Structures in the ACL-Deficient Knee: A Biomechanical Study. 62
28660229 2017
35
Complete posterolateral meniscal root tear is associated with high-grade pivot-shift phenomenon in noncontact anterior cruciate ligament injuries. 62
28280904 2017
36
Fracture Resistance of Lithium Disilicate Ceramics Bonded to Enamel or Dentin Using Different Resin Cement Types and Film Thicknesses. 62
26505488 2017
37
Codon optimization of Saccharomyces cerevisiae mating factor alpha prepro-leader to improve recombinant protein production in Pichia pastoris. 62
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
26603753 2016
39
Influence of lateral meniscal posterior root avulsions and the meniscofemoral ligaments on tibiofemoral contact mechanics. 62
26249111 2016
40
Potential use cases for the development of an electronic health facility registry in Nigeria: Key informant's perspectives. 62
28149447 2016
41
Liposomes loaded with hydrophilic magnetite nanoparticles: Preparation and application as contrast agents for magnetic resonance imaging. 62
26241922 2015
42
Design methodology accounting for fabrication errors in manufactured modified Fresnel lenses for controlled LED illumination. 62
26367631 2015
43
Different patterns of lateral meniscus root tears in ACL injuries: application of a differentiated classification system. 62
25502611 2015
44
Selective photosensitizer delivery into plasma membrane for effective photodynamic therapy. 62
24892975 2014
45
Neural Structures within Human Meniscofemoral Ligaments: A Cadaveric Study. 62
25938111 2014
46
Effect of multifocal lens glasses on the stepping patterns of novice wearers. 62
23770232 2013
47
Influence of combined cyclic fatigue and torsional stress on the fracture point of nickel-titanium rotary instruments. 62
23228273 2013
48
The posterior meniscofemoral ligament: morphologic study and anatomic classification. 62
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
20644938 2011
50
Signification of the unusual delineation of the anterior meniscofemoral ligament of Humphrey during knee arthro-CT. 62
18827955 2009

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

Expression for Marfanoid-Progeroid-Lipodystrophy Syndrome

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

Pathways for Marfanoid-Progeroid-Lipodystrophy Syndrome

GO Terms for Marfanoid-Progeroid-Lipodystrophy Syndrome

Sources for Marfanoid-Progeroid-Lipodystrophy Syndrome

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
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57 OMIM® (Updated 08-Dec-2022)
61 PubChem
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64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
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72 UMLS via Orphanet
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