MFLS
MCID: MRF021
MIFTS: 31

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 56 73
Marfan Lipodystrophy Syndrome 56 73 29 6
Marfan-Progeroid-Lipodystrophy Syndrome 56 73
Marfanoid-Progeroid Syndrome 56 73
Mfls 56 73
Progeroid and Marfanoid Aspect-Lipodystrophy Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
progeroid and marfanoid aspect-lipodystrophy syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

56
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 : 56 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)

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 bone, and related phenotypes are hypertension and macrocephaly

UniProtKB/Swiss-Prot : 73 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 : 74 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 acromicric dysplasia 10.4
2 marfan syndrome 10.4
3 geleophysic dysplasia 2 10.4
4 mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome 10.4
5 urolithiasis 10.3
6 colorectal cancer 10.2
7 neutropenia 10.2
8 uremia 10.2
9 stomatitis 10.2
10 48,xyyy 10.2

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 pes planus 31 HP:0001763
4 hydrocephalus 31 HP:0000238
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 narrow nose 31 HP:0000460
25 reduced subcutaneous adipose tissue 31 HP:0003758
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:

56
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

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 Marfan Lipodystrophy Syndrome 29 FBN1

Anatomical Context for Marfanoid-Progeroid-Lipodystrophy Syndrome

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

40
Bone

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. 61 56 6
24613577 2014
2
Asprosin, a Fasting-Induced Glucogenic Protein Hormone. 6 56
27087445 2016
3
Severe congenital lipodystrophy and a progeroid appearance: Mutation in the penultimate exon of FBN1 causing a recognizable phenotype. 56 6
24039054 2013
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. 6 56
21594992 2011
5
Progeroid facial features and lipodystrophy associated with a novel splice site mutation in the final intron of the FBN1 gene. 56 6
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. 6 56
20979188 2010
7
Marfanoid-progeroid-lipodystrophy syndrome: a newly recognized fibrillinopathy. 61 56
26860060 2016
8
Asprosin is a centrally acting orexigenic hormone. 56
29106398 2017
9
Body fat distribution and metabolic variables in patients with neonatal progeroid syndrome. 56
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 53) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 FBN1 NM_000138.4(FBN1):c.8275_8291del (p.Glu2759fs)deletion Pathogenic 617941 rs1566888718 15:48703512-48703528 15:48411315-48411331
2 FBN1 NM_000138.4(FBN1):c.2305_2315del (p.Cys769fs)deletion Pathogenic 625943 rs1566911957 15:48788401-48788411 15:48496204-48496214
3 FBN1 NM_000138.5(FBN1):c.4786C>T (p.Arg1596Ter)SNV Pathogenic 36082 rs113871094 15:48758017-48758017 15:48465820-48465820
4 FBN1 NM_000138.4(FBN1):c.8155_8156del (p.Lys2719fs)deletion Pathogenic 40243 rs398122831 15:48704836-48704837 15:48412639-48412640
5 FBN1 NM_000138.4(FBN1):c.8156_8175del (p.Lys2719fs)deletion Pathogenic 40244 rs398122832 15:48704817-48704836 15:48412620-48412639
6 FBN1 NM_000138.4(FBN1):c.8226+1G>TSNV Pathogenic 40245 rs398122833 15:48704765-48704765 15:48412568-48412568
7 FBN1 NM_000138.5(FBN1):c.1879C>T (p.Arg627Cys)SNV Pathogenic 163480 rs727503057 15:48797303-48797303 15:48505106-48505106
8 FBN1 NM_000138.4(FBN1):c.1633C>T (p.Arg545Cys)SNV Pathogenic 180352 rs730880099 15:48802322-48802322 15:48510125-48510125
9 FBN1 NM_000138.4(FBN1):c.8175_8182del (p.Arg2726fs)deletion Pathogenic 225628 rs876657410 15:48704810-48704817 15:48412613-48412620
10 FBN1 NM_000138.5(FBN1):c.8226+1G>ASNV Pathogenic 225629 rs398122833 15:48704765-48704765 15:48412568-48412568
11 FBN1 NM_000138.4(FBN1):c.2581C>T (p.Arg861Ter)SNV Pathogenic 265401 rs140583 15:48787416-48787416 15:48495219-48495219
12 FBN1 NM_000138.4(FBN1):c.2645C>T (p.Ala882Val)SNV Pathogenic/Likely pathogenic 200001 rs794728195 15:48787352-48787352 15:48495155-48495155
13 FBN1 NM_000138.4(FBN1):c.7828G>A (p.Glu2610Lys)SNV Pathogenic/Likely pathogenic 264272 rs111984349 15:48707956-48707956 15:48415759-48415759
14 FBN1 NM_000138.4(FBN1):c.6388G>A (p.Glu2130Lys)SNV Pathogenic/Likely pathogenic 200191 rs794728334 15:48729266-48729266 15:48437069-48437069
15 FBN1 NM_000138.5(FBN1):c.7754T>C (p.Ile2585Thr)SNV Pathogenic/Likely pathogenic 163462 rs727503054 15:48712949-48712949 15:48420752-48420752
16 FBN1 NM_000138.5(FBN1):c.1468+5G>ASNV Pathogenic/Likely pathogenic 42284 rs397515757 15:48807579-48807579 15:48515382-48515382
17 FBN1 NM_000138.5(FBN1):c.6806T>C (p.Ile2269Thr)SNV Pathogenic/Likely pathogenic 36107 rs193922228 15:48722933-48722933 15:48430736-48430736
18 FBN1 NM_000138.4(FBN1):c.4460-8G>ASNV Pathogenic/Likely pathogenic 36075 rs193922204 15:48760739-48760739 15:48468542-48468542
19 FBN1 NM_000138.5(FBN1):c.4588C>T (p.Arg1530Cys)SNV Pathogenic/Likely pathogenic 36078 rs111401431 15:48760294-48760294 15:48468097-48468097
20 FBN1 NM_000138.5(FBN1):c.718C>T (p.Arg240Cys)SNV Pathogenic/Likely pathogenic 16461 rs137854480 15:48829826-48829826 15:48537629-48537629
21 FBN1 NM_000138.4(FBN1):c.1948C>T (p.Arg650Cys)SNV Pathogenic/Likely pathogenic 36042 rs193922185 15:48797234-48797234 15:48505037-48505037
22 FBN1 NM_000138.4(FBN1):c.6661T>C (p.Cys2221Arg)SNV Pathogenic/Likely pathogenic 439708 rs113543334 15:48725141-48725141 15:48432944-48432944
23 FBN1 NM_000138.4(FBN1):c.1462T>C (p.Cys488Arg)SNV Pathogenic/Likely pathogenic 457162 rs1555400373 15:48807590-48807590 15:48515393-48515393
24 FBN1 NM_000138.4(FBN1):c.4388A>G (p.Asn1463Ser)SNV Pathogenic/Likely pathogenic 523334 rs1555397413 15:48762902-48762902 15:48470705-48470705
25 FBN1 NM_000138.4(FBN1):c.3413G>C (p.Cys1138Ser)SNV Likely pathogenic 495590 rs397515791 15:48779559-48779559 15:48487362-48487362
26 FBN1 NM_000138.4(FBN1):c.6183T>A (p.Cys2061Ter)SNV Likely pathogenic 626100 rs71467648 15:48730095-48730095 15:48437898-48437898
27 FBN1 NM_000138.4(FBN1):c.5546-1G>ASNV Likely pathogenic 626102 rs1566899590 15:48741091-48741091 15:48448894-48448894
28 FBN1 NM_000138.4(FBN1):c.4049G>T (p.Cys1350Phe)SNV Likely pathogenic 549204 rs1555397718 15:48766763-48766763 15:48474566-48474566
29 FBN1 NM_000138.5(FBN1):c.315_318dup (p.Ile107fs)duplication Likely pathogenic 828001 15:48902952-48902953 15:48610755-48610756
30 FBN1 NM_000138.5(FBN1):c.3509G>A (p.Arg1170His)SNV Conflicting interpretations of pathogenicity 16451 rs137854475 15:48779352-48779352 15:48487155-48487155
31 FBN1 NM_000138.5(FBN1):c.4441A>G (p.Ser1481Gly)SNV Conflicting interpretations of pathogenicity 36074 rs61730054 15:48762849-48762849 15:48470652-48470652
32 FBN1 NM_000138.5(FBN1):c.4270C>G (p.Pro1424Ala)SNV Conflicting interpretations of pathogenicity 42355 rs201273753 15:48764814-48764814 15:48472617-48472617
33 FBN1 NM_000138.5(FBN1):c.4306G>A (p.Val1436Met)SNV Conflicting interpretations of pathogenicity 42356 rs377338217 15:48764778-48764778 15:48472581-48472581
34 FBN1 NM_000138.5(FBN1):c.4750G>A (p.Glu1584Lys)SNV Conflicting interpretations of pathogenicity 42370 rs148888513 15:48758053-48758053 15:48465856-48465856
35 FBN1 NM_000138.4(FBN1):c.3712G>A (p.Asp1238Asn)SNV Conflicting interpretations of pathogenicity 200022 rs794728208 15:48777571-48777571 15:48485374-48485374
36 FBN1 NM_000138.4(FBN1):c.2934C>G (p.Asp978Glu)SNV Conflicting interpretations of pathogenicity 199947 rs138438849 15:48782196-48782196 15:48489999-48489999
37 FBN1 NM_000138.4(FBN1):c.4998C>G (p.Thr1666=)SNV Conflicting interpretations of pathogenicity 381319 rs141925790 15:48756163-48756163 15:48463966-48463966
38 FBN1 NM_000138.4(FBN1):c.2206A>G (p.Asn736Asp)SNV Uncertain significance 237085 rs878853678 15:48789550-48789550 15:48497353-48497353
39 FBN1 NM_000138.4(FBN1):c.8027C>T (p.Pro2676Leu)SNV Uncertain significance 418202 rs146469379 15:48707757-48707757 15:48415560-48415560
40 FBN1 NM_000138.5(FBN1):c.4727T>C (p.Met1576Thr)SNV Uncertain significance 200054 rs776625874 15:48760155-48760155 15:48467958-48467958
41 FBN1 NM_000138.5(FBN1):c.7852G>A (p.Gly2618Arg)SNV Uncertain significance 42434 rs141133182 15:48707932-48707932 15:48415735-48415735
42 FBN1 NM_000138.5(FBN1):c.164+5A>GSNV Uncertain significance 42289 rs397515760 15:48936798-48936798 15:48644601-48644601
43 FBN1 NM_000138.4(FBN1):c.83A>G (p.Asn28Ser)SNV Uncertain significance 36130 rs193922245 15:48936884-48936884 15:48644687-48644687
44 FBN1 NM_000138.4(FBN1):c.2287T>G (p.Cys763Gly)SNV Uncertain significance 549070 rs1555399361 15:48789469-48789469 15:48497272-48497272
45 FBN1 NM_000138.4(FBN1):c.6957T>C (p.Asn2319=)SNV Uncertain significance 626101 rs1290478839 15:48720583-48720583 15:48428386-48428386
46 FBN1 NM_000138.4(FBN1):c.4462G>T (p.Val1488Leu)SNV Uncertain significance 626103 rs1566904712 15:48760729-48760729 15:48468532-48468532
47 FBN1 NM_000138.5(FBN1):c.6244G>C (p.Glu2082Gln)SNV Uncertain significance 828000 15:48730034-48730034 15:48437837-48437837
48 FBN1 NM_000138.4(FBN1):c.4358C>T (p.Pro1453Leu)SNV Uncertain significance 501654 rs368650399 15:48762932-48762932 15:48470735-48470735
49 FBN1 NM_000138.4(FBN1):c.2600A>G (p.Asn867Ser)SNV Uncertain significance 519804 rs145464311 15:48787397-48787397 15:48495200-48495200
50 FBN1 NM_000138.4(FBN1):c.793A>T (p.Thr265Ser)SNV Uncertain significance 527175 rs982468949 15:48826346-48826346 15:48534149-48534149

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

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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