MCID: MRF019
MIFTS: 24

Marfan Lipodystrophy Syndrome

Categories: Genetic diseases, Bone diseases, Rare diseases

Aliases & Classifications for Marfan Lipodystrophy Syndrome

MalaCards integrated aliases for Marfan Lipodystrophy Syndrome:

Name: Marfan Lipodystrophy Syndrome 53 71 28
Marfan-Progeroid-Lipodystrophy Syndrome 53 71
Marfanoid-Progeroid Syndrome 53 71
Mfls 53 71
Progeroid and Marfanoid Aspect-Lipodystrophy Syndrome 55
Marfanoid-Progeroid-Lipodystrophy Syndrome 71

Characteristics:

Orphanet epidemiological data:

55
progeroid and marfanoid aspect-lipodystrophy syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

53
Inheritance:
autosomal dominant


HPO:

31
marfan lipodystrophy syndrome:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Marfan Lipodystrophy Syndrome

OMIM : 53 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, also known as marfan-progeroid-lipodystrophy syndrome, is related to lipodystrophy, and has symptoms including macrocephaly, pectus excavatum and hypertension. An important gene associated with Marfan Lipodystrophy Syndrome is FBN1 (Fibrillin 1). Affiliated tissues include bone.

UniProtKB/Swiss-Prot : 71 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 : 72 Marfanoid–progeroid–lipodystrophy syndrome (MPL), also known as Marfan lipodystrophy syndrome (MFLS) or... more...

Related Diseases for Marfan Lipodystrophy Syndrome

Diseases related to Marfan Lipodystrophy Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 lipodystrophy 10.3

Symptoms & Phenotypes for Marfan Lipodystrophy Syndrome

Symptoms via clinical synopsis from OMIM:

53
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 RibsSternum 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:

31 (show all 27)
# Description HPO Frequency HPO Source Accession
1 macrocephaly 31 HP:0000256
2 pectus excavatum 31 HP:0000767
3 hypertension 31 occasional (7.5%) HP:0000822
4 pes planus 31 HP:0001763
5 prominent forehead 31 HP:0011220
6 retrognathia 31 HP:0000278
7 intrauterine growth retardation 31 HP:0001511
8 high, narrow palate 31 HP:0002705
9 prominent nasal bridge 31 HP:0000426
10 arachnodactyly 31 HP:0001166
11 ectopia lentis 31 HP:0001083
12 mitral valve prolapse 31 HP:0001634
13 dural ectasia 31 HP:0100775
14 downslanted palpebral fissures 31 HP:0000494
15 bruising susceptibility 31 HP:0000978
16 proptosis 31 HP:0000520
17 craniosynostosis 31 HP:0001363
18 oligohydramnios 31 HP:0001562
19 tall stature 31 HP:0000098
20 premature birth 31 HP:0001622
21 narrow nose 31 HP:0000460
22 pes valgus 31 HP:0008081
23 reduced subcutaneous adipose tissue 31 HP:0003758
24 scaphocephaly 31 HP:0030799
25 high myopia 31 HP:0011003
26 aortic root aneurysm 31 HP:0002616
27 hyperextensibility of the finger joints 31 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 28 FBN1

Anatomical Context for Marfan Lipodystrophy Syndrome

MalaCards organs/tissues related to Marfan Lipodystrophy Syndrome:

38
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:

71
# Symbol AA change Variation ID SNP ID
1 FBN1 p.Ile2741Thr VAR_076160

ClinVar genetic disease variations for Marfan Lipodystrophy Syndrome:

6 (show all 11)
# 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.4588C> T (p.Arg1530Cys) single nucleotide variant Pathogenic rs111401431 GRCh37 Chromosome 15, 48760294: 48760294
3 FBN1 NM_000138.4(FBN1): c.4786C> T (p.Arg1596Ter) single nucleotide variant Pathogenic rs113871094 GRCh37 Chromosome 15, 48758017: 48758017
4 FBN1 NM_000138.4(FBN1): c.6806T> C (p.Ile2269Thr) single nucleotide variant Pathogenic/Likely pathogenic rs193922228 GRCh37 Chromosome 15, 48722933: 48722933
5 FBN1 NM_000138.4(FBN1): c.8155_8156delAA (p.Lys2719Aspfs) deletion Pathogenic rs398122831 GRCh37 Chromosome 15, 48704836: 48704837
6 FBN1 NM_000138.4(FBN1): c.8156_8175del20 (p.Lys2719Thrfs) deletion Pathogenic rs398122832 GRCh37 Chromosome 15, 48704817: 48704836
7 FBN1 NM_000138.4(FBN1): c.8226+1G> T single nucleotide variant Pathogenic rs398122833 GRCh37 Chromosome 15, 48704765: 48704765
8 FBN1 NM_000138.4(FBN1): c.1468+5G> A single nucleotide variant Pathogenic rs397515757 GRCh37 Chromosome 15, 48807579: 48807579
9 FBN1 NM_000138.4(FBN1): c.7754T> C (p.Ile2585Thr) single nucleotide variant Pathogenic/Likely pathogenic rs727503054 GRCh37 Chromosome 15, 48712949: 48712949
10 FBN1 NM_000138.4(FBN1): c.8175_8182delACGGGGCA (p.Arg2726Glufs) deletion Pathogenic rs876657410 GRCh38 Chromosome 15, 48412613: 48412620
11 FBN1 NM_000138.4(FBN1): c.8226+1G> A single nucleotide variant Pathogenic rs398122833 GRCh37 Chromosome 15, 48704765: 48704765

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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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