MFLS
MCID: MRF021
MIFTS: 33

Marfanoid-Progeroid-Lipodystrophy Syndrome (MFLS)

Categories: Bone diseases, Genetic diseases, Rare diseases

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:

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 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...

Related Diseases for Marfanoid-Progeroid-Lipodystrophy Syndrome

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:

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)

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

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

Anatomical Context for Marfanoid-Progeroid-Lipodystrophy Syndrome

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

40
Skin

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
24613577 2014
2
Asprosin, a Fasting-Induced Glucogenic Protein Hormone. 57 6
27087445 2016
3
Severe congenital lipodystrophy and a progeroid appearance: Mutation in the penultimate exon of FBN1 causing a recognizable phenotype. 57 6
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
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
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
20979188 2010
7
Marfanoid-progeroid-lipodystrophy syndrome: a newly recognized fibrillinopathy. 61 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
Fibrillin-1 and fibrillin-1-derived asprosin in adipose tissue function and metabolic disorders. 61
32279186 2020
11
Genetic and molecular mechanism for distinct clinical phenotypes conveyed by allelic truncating mutations implicated in FBN1. 61
31774634 2020

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

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

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