MCID: MRF019
MIFTS: 23

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 54 71 29
Progeroid and Marfanoid Aspect-Lipodystrophy Syndrome 56
Marfanoid-Progeroid-Lipodystrophy Syndrome 71
Marfan-Progeroid-Lipodystrophy Syndrome 71
Marfanoid-Progeroid Syndrome 71
Mfls 71

Characteristics:

Orphanet epidemiological data:

56
progeroid and marfanoid aspect-lipodystrophy syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

54
Inheritance:
autosomal dominant


HPO:

32
marfan lipodystrophy syndrome:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Marfan Lipodystrophy Syndrome

OMIM : 54
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 progeroid and marfanoid aspect-lipodystrophy syndrome, is related to lipodystrophy, and has symptoms including prominent forehead, proptosis and intrauterine growth retardation. 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:

id Related Disease Score Top Affiliating Genes
1 lipodystrophy 10.2

Symptoms & Phenotypes for Marfan Lipodystrophy Syndrome

Symptoms via clinical synopsis from OMIM:

54

Head And Neck- Mouth:
high-arched palate
narrow palate

Head And Neck- Face:
prominent forehead
retrognathia
scaphocephaly (in some patients)
progeroid appearance

Prenatal Manifestations- Delivery:
premature birth

Head And Neck- Head:
large head
craniosynostosis (rare)
arrested hydrocephalus

Skeletal- Feet:
pes planus
pes valgus

Skeletal- Hands:
arachnodactyly
hyperextensible digits

Chest- External Features:
pectus excavatum (in some patients)

Growth- Weight:
extremely low body mass index

Cardiovascular- Vascular:
hypertension (rare)

Skin Nails & Hair- Skin:
easy bruisability (in some patients)

Head And Neck- Eyes:
downslanting palpebral fissures
proptosis
severe myopia
ectopia lentis (in some patients)

Growth- Other:
intrauterine growth retardation

Head And Neck- Nose:
high nasal bridge
thin nose

Skeletal- Skull:
scaphocephaly
craniosynostosis (rare)
open anterior fontanel

Growth- Height:
tall stature

Neurologic- Central Nervous System:
normal psychomotor development
dural ectasia (in some patients)
arrested hydrocephalus

Prenatal Manifestations- Amniotic Fluid:
oligohydramnios (in some patients)

Cardiovascular- Heart:
mild mitral valve prolapse (in some patients)
dilation of aortic root (in some patients)

Skeletal- Limbs:
long limbs
arthrogryposis of large joints (in some patients)

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 24)
id Description HPO Frequency HPO Source Accession
1 prominent forehead 32 HP:0011220
2 proptosis 32 HP:0000520
3 intrauterine growth retardation 32 HP:0001511
4 premature birth 32 HP:0001622
5 retrognathia 32 HP:0000278
6 pectus excavatum 32 HP:0000767
7 scaphocephaly 32 HP:0030799
8 oligohydramnios 32 HP:0001562
9 downslanted palpebral fissures 32 HP:0000494
10 pes planus 32 HP:0001763
11 aortic root dilatation 32 HP:0002616
12 mitral valve prolapse 32 HP:0001634
13 tall stature 32 HP:0000098
14 arachnodactyly 32 HP:0001166
15 dural ectasia 32 HP:0100775
16 craniosynostosis 32 HP:0001363
17 narrow nose 32 HP:0000460
18 ectopia lentis 32 HP:0001083
19 prominent nasal bridge 32 HP:0000426
20 severe myopia 32 HP:0011003
21 high, narrow palate 32 HP:0002705
22 bruising susceptibility 32 HP:0000978
23 reduced subcutaneous adipose tissue 32 HP:0003758
24 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:

id Genetic test Affiliating Genes
1 Marfan Lipodystrophy Syndrome 29

Anatomical Context for Marfan Lipodystrophy Syndrome

MalaCards organs/tissues related to Marfan Lipodystrophy Syndrome:

39
Bone

Publications for Marfan Lipodystrophy Syndrome

Variations for Marfan Lipodystrophy Syndrome

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

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

ClinVar genetic disease variations for Marfan Lipodystrophy Syndrome:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 FBN1 NM_000138.4(FBN1): c.8155_8156delAA (p.Lys2719Aspfs) deletion Pathogenic rs398122831 GRCh37 Chromosome 15, 48704836: 48704837
2 FBN1 NM_000138.4(FBN1): c.8156_8175del20 (p.Lys2719Thrfs) deletion Pathogenic rs398122832 GRCh37 Chromosome 15, 48704817: 48704836
3 FBN1 NM_000138.4(FBN1): c.8226+1G> T single nucleotide variant Pathogenic rs398122833 GRCh37 Chromosome 15, 48704765: 48704765
4 FBN1 NM_000138.4(FBN1): c.8175_8182delACGGGGCA (p.Arg2726Glufs) deletion Pathogenic rs876657410 GRCh38 Chromosome 15, 48412613: 48412620
5 FBN1 NM_000138.4(FBN1): c.8226+1G> A single nucleotide variant Pathogenic rs398122833 GRCh38 Chromosome 15, 48412568: 48412568

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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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