Marfanoid-Progeroid-Lipodystrophy Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

Sources

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:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Bone diseases

See all MalaCards categories (disease lists)

ICD10: ³⁵

Endocrine, nutritional and metabolic diseases

Metabolic disorders

Other metabolic disorders

Lipodystrophy, not elsewhere classified

Orphanet: ⁶⁰

Rare systemic and rhumatological diseases

External Ids:

OMIM ⁵⁸ 616914

MeSH ⁴⁵ D008060 D008382

ICD10 via Orphanet ³⁵ E88.1

Orphanet ⁶⁰ ORPHA300382

MedGen ⁴³ C4310796 CN236394

SNOMED-CT via HPO ⁷⁰ 18265008 19939008 199612005 more

Sources

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...

Sources

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

Sources

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

Sources

Drugs & Therapeutics for Marfanoid-Progeroid-Lipodystrophy Syndrome

Search Clinical Trials , NIH Clinical Center for Marfanoid-Progeroid-Lipodystrophy Syndrome

Sources

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

Sources

Anatomical Context for Marfanoid-Progeroid-Lipodystrophy Syndrome

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

⁴²

Bone

Sources

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 )	Passarge E....Graul-Neumann L.M.	2016

Sources

Genes for Marfanoid-Progeroid-Lipodystrophy Syndrome

Genes related to Marfanoid-Progeroid-Lipodystrophy Syndrome (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	FBN1	Fibrillin 1	Protein Coding	1667.67	Molecular basis known ⁵⁸ Pathogenic/Likely pathogenic ⁶ Causative germline mutation ⁶⁰ Causative variation ⁷⁶ Genetic Tests ³⁰ GeneCards inferred via : Publications (show sections)	20979188 21594992 21594993 (more) 27087445 24039054 24613577

Sources

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

Sources

Expression for Marfanoid-Progeroid-Lipodystrophy Syndrome

Search GEO for disease gene expression data for Marfanoid-Progeroid-Lipodystrophy Syndrome.

Sources

Pathways for Marfanoid-Progeroid-Lipodystrophy Syndrome

Sources

GO Terms for Marfanoid-Progeroid-Lipodystrophy Syndrome

Sources

Sources for Marfanoid-Progeroid-Lipodystrophy Syndrome

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FDA Approved Drugs

²⁰ FMA

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ Genetics Home Reference

²⁷ GenomeRNAi

²⁸ GEO DataSets

²⁹ GO

³⁰ GTR

³¹ HGMD

³² HMDB

³³ HPO

³⁴ ICD10

³⁵ ICD10 via Orphanet

³⁶ ICD9CM

³⁷ IUPHAR

³⁸ KEGG

³⁹ LifeMap

⁴⁰ LncRNADisease

⁴¹ LOVD

⁴² MalaCards

⁴³ MedGen

⁴⁴ MedlinePlus

⁴⁵ MeSH

⁴⁶ MESH via Orphanet

⁴⁷ MGI

⁴⁸ miR2Disease

⁴⁹ NCBI Bookshelf

⁵⁰ NCI

⁵¹ NCIt

⁵² NDF-RT

⁵³ NIH Clinical Center

⁵⁴ NIH Rare Diseases

⁵⁵ NINDS

⁵⁶ Novoseek

⁵⁷ Novus Biologicals

⁵⁸ OMIM

⁵⁹ OMIM via Orphanet

⁶⁰ Orphanet

⁶¹ PathCards

⁶² PharmGKB

⁶³ PubMed

⁶⁴ PubMed Health

⁶⁵ QIAGEN

⁶⁶ R&D Systems

⁶⁷ Reactome

⁶⁸ Sino Biological

⁶⁹ SNOMED-CT

⁷⁰ SNOMED-CT via HPO

⁷¹ SNOMED-CT via Orphanet

⁷² TGDB

⁷³ Tocris

⁷⁴ UMLS

⁷⁵ UMLS via Orphanet

⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ Wikipedia

Marfanoid-Progeroid-Lipodystrophy Syndrome (MFLS)

Aliases & Classifications for Marfanoid-Progeroid-Lipodystrophy Syndrome

MalaCards integrated aliases for Marfanoid-Progeroid-Lipodystrophy Syndrome:

Characteristics:

Orphanet epidemiological data:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Marfanoid-Progeroid-Lipodystrophy Syndrome

Related Diseases for Marfanoid-Progeroid-Lipodystrophy Syndrome

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

Symptoms & Phenotypes for Marfanoid-Progeroid-Lipodystrophy Syndrome

Human phenotypes related to Marfanoid-Progeroid-Lipodystrophy Syndrome:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Drugs & Therapeutics for Marfanoid-Progeroid-Lipodystrophy Syndrome

Genetic Tests for Marfanoid-Progeroid-Lipodystrophy Syndrome

Genetic tests related to Marfanoid-Progeroid-Lipodystrophy Syndrome:

Anatomical Context for Marfanoid-Progeroid-Lipodystrophy Syndrome

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

Publications for Marfanoid-Progeroid-Lipodystrophy Syndrome

Articles related to Marfanoid-Progeroid-Lipodystrophy Syndrome:

Genes for Marfanoid-Progeroid-Lipodystrophy Syndrome

Genes related to Marfanoid-Progeroid-Lipodystrophy Syndrome (1 elite genes):

Variations for Marfanoid-Progeroid-Lipodystrophy Syndrome

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

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

Expression for Marfanoid-Progeroid-Lipodystrophy Syndrome

Pathways for Marfanoid-Progeroid-Lipodystrophy Syndrome

GO Terms for Marfanoid-Progeroid-Lipodystrophy Syndrome

Sources for Marfanoid-Progeroid-Lipodystrophy Syndrome