MFLS
MCID: MRF021
MIFTS: 23

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 58 76
Marfan Lipodystrophy Syndrome 58 76 30 6
Marfan-Progeroid-Lipodystrophy Syndrome 58 76
Marfanoid-Progeroid Syndrome 58 76
Mfls 58 76
Progeroid and Marfanoid Aspect-Lipodystrophy Syndrome 60

Characteristics:

Orphanet epidemiological data:

60
progeroid and marfanoid aspect-lipodystrophy syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
marfanoid-progeroid-lipodystrophy syndrome:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Marfanoid-Progeroid-Lipodystrophy Syndrome

OMIM : 58 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 breast cancer. 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 : 76 Marfan lipodystrophy syndrome: A 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 : 77 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 breast cancer 10.2

Symptoms & Phenotypes for Marfanoid-Progeroid-Lipodystrophy Syndrome

Human phenotypes related to Marfanoid-Progeroid-Lipodystrophy Syndrome:

33 (show all 28)
# Description HPO Frequency HPO Source Accession
1 hypertension 33 occasional (7.5%) HP:0000822
2 macrocephaly 33 HP:0000256
3 pectus excavatum 33 HP:0000767
4 hydrocephalus 33 HP:0000238
5 pes planus 33 HP:0001763
6 prominent forehead 33 HP:0011220
7 retrognathia 33 HP:0000278
8 intrauterine growth retardation 33 HP:0001511
9 high, narrow palate 33 HP:0002705
10 mitral valve prolapse 33 HP:0001634
11 prominent nasal bridge 33 HP:0000426
12 arachnodactyly 33 HP:0001166
13 ectopia lentis 33 HP:0001083
14 dural ectasia 33 HP:0100775
15 downslanted palpebral fissures 33 HP:0000494
16 bruising susceptibility 33 HP:0000978
17 proptosis 33 HP:0000520
18 craniosynostosis 33 HP:0001363
19 oligohydramnios 33 HP:0001562
20 tall stature 33 HP:0000098
21 premature birth 33 HP:0001622
22 pes valgus 33 HP:0008081
23 narrow nose 33 HP:0000460
24 reduced subcutaneous adipose tissue 33 HP:0003758
25 hyperextensibility of the finger joints 33 HP:0001187
26 scaphocephaly 33 HP:0030799
27 high myopia 33 HP:0011003
28 aortic root aneurysm 33 HP:0002616

Symptoms via clinical synopsis from OMIM:

58
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

Head And Neck Nose:
high nasal bridge
thin nose

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
severe myopia
downslanting palpebral fissures
ectopia lentis (in some patients)

Prenatal Manifestations Delivery:
premature birth

Skeletal Skull:
scaphocephaly
craniosynostosis (rare)
open anterior fontanel

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 30 FBN1

Anatomical Context for Marfanoid-Progeroid-Lipodystrophy Syndrome

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

42
Bone

Publications for Marfanoid-Progeroid-Lipodystrophy Syndrome

Articles related to Marfanoid-Progeroid-Lipodystrophy Syndrome:

# Title Authors Year
1
Marfanoid-progeroid-lipodystrophy syndrome: a newly recognized fibrillinopathy. ( 26860060 )
2016

Variations for Marfanoid-Progeroid-Lipodystrophy Syndrome

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

76
# Symbol AA change Variation ID SNP ID
1 FBN1 p.Ile2741Thr VAR_076160

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

6 (show all 32)
# Gene Variation Type Significance SNP ID Assembly Location
1 FBN1 NM_000138.4(FBN1): c.7754T> C (p.Ile2585Thr) single nucleotide variant Pathogenic/Likely pathogenic rs727503054 GRCh37 Chromosome 15, 48712949: 48712949
2 FBN1 NM_000138.4(FBN1): c.7754T> C (p.Ile2585Thr) single nucleotide variant Pathogenic/Likely pathogenic rs727503054 GRCh38 Chromosome 15, 48420752: 48420752
3 FBN1 NM_000138.4(FBN1): c.718C> T (p.Arg240Cys) single nucleotide variant Pathogenic rs137854480 GRCh37 Chromosome 15, 48829826: 48829826
4 FBN1 NM_000138.4(FBN1): c.718C> T (p.Arg240Cys) single nucleotide variant Pathogenic rs137854480 GRCh38 Chromosome 15, 48537629: 48537629
5 FBN1 NM_000138.4(FBN1): c.4441A> G (p.Ser1481Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs61730054 GRCh37 Chromosome 15, 48762849: 48762849
6 FBN1 NM_000138.4(FBN1): c.4441A> G (p.Ser1481Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs61730054 GRCh38 Chromosome 15, 48470652: 48470652
7 FBN1 NM_000138.4(FBN1): c.4588C> T (p.Arg1530Cys) single nucleotide variant Pathogenic/Likely pathogenic rs111401431 GRCh37 Chromosome 15, 48760294: 48760294
8 FBN1 NM_000138.4(FBN1): c.4588C> T (p.Arg1530Cys) single nucleotide variant Pathogenic/Likely pathogenic rs111401431 GRCh38 Chromosome 15, 48468097: 48468097
9 FBN1 NM_000138.4(FBN1): c.4786C> T (p.Arg1596Ter) single nucleotide variant Pathogenic rs113871094 GRCh37 Chromosome 15, 48758017: 48758017
10 FBN1 NM_000138.4(FBN1): c.4786C> T (p.Arg1596Ter) single nucleotide variant Pathogenic rs113871094 GRCh38 Chromosome 15, 48465820: 48465820
11 FBN1 NM_000138.4(FBN1): c.6806T> C (p.Ile2269Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs193922228 GRCh37 Chromosome 15, 48722933: 48722933
12 FBN1 NM_000138.4(FBN1): c.6806T> C (p.Ile2269Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs193922228 GRCh38 Chromosome 15, 48430736: 48430736
13 FBN1 NM_000138.4(FBN1): c.8155_8156delAA (p.Lys2719Aspfs) deletion Pathogenic rs398122831 GRCh37 Chromosome 15, 48704836: 48704837
14 FBN1 NM_000138.4(FBN1): c.8155_8156delAA (p.Lys2719Aspfs) deletion Pathogenic rs398122831 GRCh38 Chromosome 15, 48412639: 48412640
15 FBN1 NM_000138.4(FBN1): c.8156_8175del20 (p.Lys2719Thrfs) deletion Pathogenic rs398122832 GRCh37 Chromosome 15, 48704817: 48704836
16 FBN1 NM_000138.4(FBN1): c.8156_8175del20 (p.Lys2719Thrfs) deletion Pathogenic rs398122832 GRCh38 Chromosome 15, 48412620: 48412639
17 FBN1 NM_000138.4(FBN1): c.8226+1G> T single nucleotide variant Pathogenic rs398122833 GRCh37 Chromosome 15, 48704765: 48704765
18 FBN1 NM_000138.4(FBN1): c.8226+1G> T single nucleotide variant Pathogenic rs398122833 GRCh38 Chromosome 15, 48412568: 48412568
19 FBN1 NM_000138.4(FBN1): c.1468+5G> A single nucleotide variant Pathogenic/Likely pathogenic rs397515757 GRCh37 Chromosome 15, 48807579: 48807579
20 FBN1 NM_000138.4(FBN1): c.1468+5G> A single nucleotide variant Pathogenic/Likely pathogenic rs397515757 GRCh38 Chromosome 15, 48515382: 48515382
21 FBN1 NM_000138.4(FBN1): c.4306G> A (p.Val1436Met) single nucleotide variant Conflicting interpretations of pathogenicity rs377338217 GRCh37 Chromosome 15, 48764778: 48764778
22 FBN1 NM_000138.4(FBN1): c.4306G> A (p.Val1436Met) single nucleotide variant Conflicting interpretations of pathogenicity rs377338217 GRCh38 Chromosome 15, 48472581: 48472581
23 FBN1 NM_000138.4(FBN1): c.4750G> A (p.Glu1584Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs148888513 GRCh37 Chromosome 15, 48758053: 48758053
24 FBN1 NM_000138.4(FBN1): c.4750G> A (p.Glu1584Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs148888513 GRCh38 Chromosome 15, 48465856: 48465856
25 FBN1 NM_000138.4(FBN1): c.8175_8182delACGGGGCA (p.Arg2726Glufs) deletion Pathogenic rs876657410 GRCh38 Chromosome 15, 48412613: 48412620
26 FBN1 NM_000138.4(FBN1): c.8175_8182delACGGGGCA (p.Arg2726Glufs) deletion Pathogenic rs876657410 GRCh37 Chromosome 15, 48704810: 48704817
27 FBN1 NM_000138.4(FBN1): c.8226+1G> A single nucleotide variant Pathogenic rs398122833 GRCh38 Chromosome 15, 48412568: 48412568
28 FBN1 NM_000138.4(FBN1): c.8226+1G> A single nucleotide variant Pathogenic rs398122833 GRCh37 Chromosome 15, 48704765: 48704765
29 FBN1 NM_000138.4(FBN1): c.8138A> G (p.Glu2713Gly) single nucleotide variant Uncertain significance rs1555393658 GRCh38 Chromosome 15, 48412657: 48412657
30 FBN1 NM_000138.4(FBN1): c.8138A> G (p.Glu2713Gly) single nucleotide variant Uncertain significance rs1555393658 GRCh37 Chromosome 15, 48704854: 48704854
31 FBN1 NM_000138.4(FBN1): c.8273_8289del (p.Glu2759Cysfs) deletion Pathogenic GRCh38 Chromosome 15, 48411317: 48411333
32 FBN1 NM_000138.4(FBN1): c.8273_8289del (p.Glu2759Cysfs) deletion Pathogenic GRCh37 Chromosome 15, 48703512: 48703528

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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