MFLS
MCID: MRF019
MIFTS: 22

Marfan Lipodystrophy Syndrome (MFLS)

Categories: Bone diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Marfan Lipodystrophy Syndrome

MalaCards integrated aliases for Marfan Lipodystrophy Syndrome:

Name: Marfan Lipodystrophy Syndrome 57 75 29 6
Marfan-Progeroid-Lipodystrophy Syndrome 57 75
Marfanoid-Progeroid Syndrome 57 75
Mfls 57 75
Progeroid and Marfanoid Aspect-Lipodystrophy Syndrome 59
Marfanoid-Progeroid-Lipodystrophy Syndrome 75

Characteristics:

Orphanet epidemiological data:

59
progeroid and marfanoid aspect-lipodystrophy syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
marfan lipodystrophy syndrome:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Marfan Lipodystrophy Syndrome

OMIM : 57 Marfan lipodystrophy syndrome 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 : Marfan Lipodystrophy Syndrome, is also known as marfan-progeroid-lipodystrophy syndrome. An important gene associated with Marfan Lipodystrophy Syndrome is FBN1 (Fibrillin 1). Affiliated tissues include bone, and related phenotypes are macrocephaly and pectus excavatum

UniProtKB/Swiss-Prot : 75 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.

Related Diseases for Marfan Lipodystrophy Syndrome

Symptoms & Phenotypes for Marfan Lipodystrophy Syndrome

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Marfan Lipodystrophy Syndrome:

32 (show all 28)
# Description HPO Frequency HPO Source Accession
1 macrocephaly 32 HP:0000256
2 pectus excavatum 32 HP:0000767
3 hydrocephalus 32 HP:0000238
4 hypertension 32 occasional (7.5%) HP:0000822
5 pes planus 32 HP:0001763
6 prominent forehead 32 HP:0011220
7 retrognathia 32 HP:0000278
8 intrauterine growth retardation 32 HP:0001511
9 high, narrow palate 32 HP:0002705
10 prominent nasal bridge 32 HP:0000426
11 arachnodactyly 32 HP:0001166
12 ectopia lentis 32 HP:0001083
13 mitral valve prolapse 32 HP:0001634
14 dural ectasia 32 HP:0100775
15 downslanted palpebral fissures 32 HP:0000494
16 bruising susceptibility 32 HP:0000978
17 proptosis 32 HP:0000520
18 craniosynostosis 32 HP:0001363
19 oligohydramnios 32 HP:0001562
20 tall stature 32 HP:0000098
21 premature birth 32 HP:0001622
22 pes valgus 32 HP:0008081
23 narrow nose 32 HP:0000460
24 reduced subcutaneous adipose tissue 32 HP:0003758
25 scaphocephaly 32 HP:0030799
26 high myopia 32 HP:0011003
27 aortic root aneurysm 32 HP:0002616
28 hyperextensibility of the finger joints 32 HP:0001187

Drugs & Therapeutics for Marfan Lipodystrophy Syndrome

Search Clinical Trials , NIH Clinical Center for Marfan Lipodystrophy Syndrome

Genetic Tests for Marfan Lipodystrophy Syndrome

Genetic tests related to Marfan Lipodystrophy Syndrome:

# Genetic test Affiliating Genes
1 Marfan Lipodystrophy Syndrome 29 FBN1

Anatomical Context for Marfan Lipodystrophy Syndrome

MalaCards organs/tissues related to Marfan Lipodystrophy Syndrome:

41
Bone

Publications for Marfan Lipodystrophy Syndrome

Articles related to Marfan Lipodystrophy Syndrome:

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

Variations for Marfan Lipodystrophy Syndrome

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

75
# Symbol AA change Variation ID SNP ID
1 FBN1 p.Ile2741Thr VAR_076160

ClinVar genetic disease variations for Marfan Lipodystrophy Syndrome:

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

Expression for Marfan Lipodystrophy Syndrome

Search GEO for disease gene expression data for Marfan Lipodystrophy Syndrome.

Pathways for Marfan Lipodystrophy Syndrome

GO Terms for Marfan Lipodystrophy Syndrome

Sources for Marfan Lipodystrophy Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
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54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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