MCID: NNT039
MIFTS: 33

Neonatal Marfan Syndrome

Categories: Bone diseases, Cardiovascular diseases, Rare diseases

Aliases & Classifications for Neonatal Marfan Syndrome

Summaries for Neonatal Marfan Syndrome

MalaCards based summary : Neonatal Marfan Syndrome, also known as marfan syndrome, neonatal, is related to marfan syndrome and isolated ectopia lentis. An important gene associated with Neonatal Marfan Syndrome is FBN1 (Fibrillin 1), and among its related pathways/superpathways is Degradation of the extracellular matrix. Affiliated tissues include eye and bone, and related phenotypes are emphysema and mitral regurgitation

Related Diseases for Neonatal Marfan Syndrome

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

# Related Disease Score Top Affiliating Genes
1 marfan syndrome 31.8 DCN FBN1
2 isolated ectopia lentis 10.0
3 arthrogryposis, distal, type 9 9.8
4 pulmonary emphysema 9.8
5 diaphragmatic eventration 9.8
6 hydronephrosis 9.8
7 mitral valve insufficiency 9.8
8 bowenoid papulosis 9.8
9 tracheobronchomalacia 9.8
10 bullous keratopathy 9.5 DCN FBN1

Graphical network of the top 20 diseases related to Neonatal Marfan Syndrome:



Diseases related to Neonatal Marfan Syndrome

Symptoms & Phenotypes for Neonatal Marfan Syndrome

Human phenotypes related to Neonatal Marfan Syndrome:

60 33 (show all 47)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 emphysema 60 33 obligate (100%) Obligate (100%),Very frequent (99-80%) HP:0002097
2 mitral regurgitation 60 33 obligate (100%) Obligate (100%),Very frequent (99-80%) HP:0001653
3 tricuspid regurgitation 60 33 obligate (100%) Obligate (100%),Very frequent (99-80%) HP:0005180
4 pectus carinatum 60 33 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0000768
5 flexion contracture 60 33 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0001371
6 lipoatrophy 60 33 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0100578
7 feeding difficulties 60 33 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0011968
8 megalocornea 60 33 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0000485
9 dolichocephaly 60 33 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0000268
10 enlarged thorax 60 33 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0100625
11 motor delay 60 33 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0001270
12 mitral valve prolapse 60 33 hallmark (90%) Very frequent (99-80%) HP:0001634
13 neonatal respiratory distress 60 33 hallmark (90%) Very frequent (99-80%) HP:0002643
14 decreased testicular size 60 33 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0008734
15 arachnodactyly 60 33 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0001166
16 ectopia lentis 60 33 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0001083
17 hypoxemia 60 33 hallmark (90%) Very frequent (99-80%) HP:0012418
18 adducted thumb 60 33 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0001181
19 tricuspid valve prolapse 60 33 hallmark (90%) Very frequent (99-80%) HP:0001704
20 small for gestational age 60 33 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0001518
21 long toe 60 33 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0010511
22 heart murmur 60 33 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0030148
23 iridodonesis 60 33 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0100693
24 cutis laxa 60 33 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0000973
25 talipes calcaneovarus 60 33 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0008124
26 abnormal echocardiogram 60 33 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0003116
27 high myopia 33 hallmark (90%) HP:0011003
28 aortic root aneurysm 33 hallmark (90%) HP:0002616
29 ascending tubular aorta aneurysm 33 hallmark (90%) HP:0004970
30 abnormal cardiac ventricle morphology 33 hallmark (90%) HP:0001713
31 low-set ears 60 33 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0000369
32 muscular hypotonia 60 33 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0001252
33 wide nasal bridge 60 33 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0000431
34 micrognathia 60 33 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0000347
35 high, narrow palate 60 33 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0002705
36 deeply set eye 60 33 frequent (33%) Frequent (79-30%) HP:0000490
37 joint hypermobility 60 33 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0001382
38 downslanted palpebral fissures 60 33 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0000494
39 hyporeflexia 60 33 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0001265
40 blue sclerae 60 33 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0000592
41 crumpled ear 60 33 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0009901
42 increased arm span 60 33 frequent (33%) Frequent (79-30%) HP:0012771
43 long fingers 60 Very frequent (99-80%),Very frequent (99-80%)
44 severe myopia 60 Very frequent (99-80%),Very frequent (99-80%)
45 abnormality of cardiac ventricle 60 Very frequent (99-80%)
46 dilatation of ascending aorta 60 Very frequent (99-80%)
47 ascending aortic dilation 60 Very frequent (99-80%)

Drugs & Therapeutics for Neonatal Marfan Syndrome

Search Clinical Trials , NIH Clinical Center for Neonatal Marfan Syndrome

Genetic Tests for Neonatal Marfan Syndrome

Genetic tests related to Neonatal Marfan Syndrome:

# Genetic test Affiliating Genes
1 Neonatal Marfan Syndrome 30

Anatomical Context for Neonatal Marfan Syndrome

MalaCards organs/tissues related to Neonatal Marfan Syndrome:

42
Eye, Bone

Publications for Neonatal Marfan Syndrome

Articles related to Neonatal Marfan Syndrome:

(show top 50) (show all 57)
# Title Authors Year
1
Neonatal Marfan Syndrome: A Rare, Severe, and Life-Threatening Genetic Disease. ( 31053350 )
2019
2
Bilateral Immediate Sequential Vitrectomy and Lensectomy for Bilateral Lens Dislocation in Severe Neonatal Marfan Syndrome. ( 30395677 )
2018
3
Microcornea and bilateral ectopia lentis in an infant: unusual severe ocular presentation of neonatal Marfan syndrome. ( 30447425 )
2018
4
Losartan in combination with propranolol slows the aortic root dilatation in neonatal Marfan syndrome. ( 28823387 )
2018
5
Neonatal Marfan syndrome: Report of two cases. ( 28759179 )
2017
6
Childhood glaucoma in neonatal Marfan syndrome resulting from a novel FBN1 deletion. ( 28985825 )
2017
7
Atypical Neonatal Marfan Syndrome with p.Glu1073Lys Mutation of FBN1: the First Case in Korea. ( 27914124 )
2017
8
Neonatal Marfan syndrome diagnosed prenatally. ( 28157248 )
2017
9
A Case of Neonatal Marfan Syndrome: A Management Conundrum and the Role of a Multidisciplinary Team. ( 28168077 )
2017
10
Neonatal Marfan Syndrome: Report of a Case with an Inherited Splicing Mutation outside the Neonatal Domain. ( 27022329 )
2016
11
Palliative Mitral Valve Repair During Infancy for Neonatal Marfan Syndrome. ( 27106438 )
2016
12
A novel fibrillin-1 gene missense mutation associated with neonatal Marfan syndrome: a case report and review of the mutation spectrum. ( 27138491 )
2016
13
Neonatal Marfan syndrome with angle-closure glaucoma, tricuspid and mitral insufficiency. ( 26043516 )
2015
14
Neonatal Marfan syndrome: a successful early multidisciplinary approach. ( 24928929 )
2014
15
Paternal fibrillin-1 mutation transmitted to an affected son with neonatal marfan syndrome: the importance of early recognition. ( 23930893 )
2014
16
Neonatal marfan syndrome: report of two cases. ( 23549323 )
2013
17
Neonatal marfan syndrome with hiatus hernia and intrathoracic stomach. ( 23897310 )
2013
18
A case of neonatal Marfan syndrome with good late follow-up: is it possible to avoid an early unfavourable outcome? ( 22813538 )
2013
19
Prenatal diagnosis of neonatal Marfan syndrome. ( 21442627 )
2011
20
Classical and neonatal Marfan syndrome mutations in fibrillin-1 cause differential protease susceptibilities and protein function. ( 21784848 )
2011
21
Novel exon nucleotide substitution at the splice junction causes a neonatal Marfan syndrome. ( 20132243 )
2010
22
Neonatal Marfan syndrome: unusually large deletion of exons 24-26 of FBN1 associated with poor prognosis. ( 20455198 )
2010
23
Central nervous system abnormalities in two cases with neonatal Marfan syndrome with novel mutations in the fibrillin-1 gene. ( 20803651 )
2010
24
Functional pulmonary atresia in a patient with neonatal Marfan syndrome caused by a c.3602G>A mutation in exon 29 of the FBN1 gene. ( 18388785 )
2008
25
Novel fibrillin 1 mutation in a case of neonatal Marfan syndrome: the increasing importance of early recognition. ( 18377451 )
2007
26
Familial neonatal Marfan syndrome due to parental mosaicism of a missense mutation in the FBN1 gene. ( 17366579 )
2007
27
FBN1, TGFBR1, and the Marfan-craniosynostosis/mental retardation disorders revisited. ( 16596670 )
2006
28
Neonatal Marfan syndrome : in utero presentation with aortic and pulmonary artery dilatation and successful repair of an acute flail mitral valve leaflet in infancy. ( 17091324 )
2006
29
Splicing mutation in the fibrillin-1 gene associated with neonatal Marfan syndrome and severe pulmonary emphysema with tracheobronchomalacia. ( 15666366 )
2005
30
Cardiac transplantation in neonatal Marfan syndrome -- a life-saving approach. ( 15704038 )
2005
31
Neonatal Marfan syndrome: clinical report and review of the literature. ( 15770129 )
2005
32
Severe infantile Marfan syndrome versus neonatal Marfan syndrome. ( 16222685 )
2005
33
Congenital diaphragmatic eventration and bilateral uretero-hydronephrosis in a patient with neonatal Marfan syndrome caused by a mutation in exon 25 of the FBN1 gene and review of the literature. ( 14586646 )
2004
34
Primary trabeculodysgenesis in association with neonatal Marfan syndrome. ( 15264290 )
2004
35
Neonatal Marfan syndrome caused by an exon 25 mutation of the fibrillin-1 gene. ( 15287423 )
2004
36
A recurring FBN1 gene mutation in neonatal Marfan syndrome. ( 12413333 )
2002
37
Classic, atypically severe and neonatal Marfan syndrome: twelve mutations and genotype-phenotype correlations in FBN1 exons 24-40. ( 11175294 )
2001
38
Popliteal pterygium associated with neonatal Marfan syndrome: case report. ( 11446416 )
2001
39
Pathology teach and tell: neonatal Marfan syndrome. ( 11486354 )
2001
40
Mutations in calcium-binding epidermal growth factor modules render fibrillin-1 susceptible to proteolysis. A potential disease-causing mechanism in Marfan syndrome. ( 10766875 )
2000
41
Neonatal Marfan syndrome: a case report. ( 10404462 )
1999
42
Acute mitral regurgitation due to chordal rupture in a patient with neonatal Marfan syndrome caused by a deletion in exon 29 of the FBN1 gene. ( 10441700 )
1999
43
Clinical, pathological and molecular genetic findings in a case of neonatal Marfan syndrome. ( 10090557 )
1999
44
Novel exon skipping mutation in the fibrillin-1 gene: two 'hot spots' for the neonatal Marfan syndrome. ( 10189088 )
1999
45
Three novel fibrillin mutations in exons 25 and 27: classic versus neonatal Marfan syndrome. ( 9101298 )
1997
46
Hiatus/paraesophageal hernias in neonatal Marfan syndrome. ( 9382135 )
1997
47
Double mutant fibrillin-1 (FBN1) allele in a patient with neonatal Marfan syndrome. ( 8880577 )
1996
48
A point mutation creating an extra N-glycosylation site in fibrillin-1 results in neonatal Marfan syndrome. ( 8884270 )
1996
49
Recurrent mis-splicing of fibrillin exon 32 in two patients with neonatal Marfan syndrome. ( 7633409 )
1995
50
Abnormal morphology of fibrillin microfibrils in fibroblast cultures from patients with neonatal Marfan syndrome. ( 7778680 )
1995

Variations for Neonatal Marfan Syndrome

ClinVar genetic disease variations for Neonatal Marfan Syndrome:

6 (show all 16)
# Gene Variation Type Significance SNP ID Assembly Location
1 FBN1 NM_000138.4(FBN1): c.3220T> C (p.Cys1074Arg) single nucleotide variant Pathogenic rs137854465 GRCh37 Chromosome 15, 48780427: 48780427
2 FBN1 NM_000138.4(FBN1): c.3220T> C (p.Cys1074Arg) single nucleotide variant Pathogenic rs137854465 GRCh38 Chromosome 15, 48488230: 48488230
3 FBN1 NM_000138.4(FBN1): c.3965-2A> T single nucleotide variant Pathogenic rs387906547 GRCh37 Chromosome 15, 48766849: 48766849
4 FBN1 NM_000138.4(FBN1): c.3965-2A> T single nucleotide variant Pathogenic rs387906547 GRCh38 Chromosome 15, 48474652: 48474652
5 FBN1 NM_000138.4(FBN1): c.4087+1G> A single nucleotide variant Pathogenic rs387906548 GRCh37 Chromosome 15, 48766724: 48766724
6 FBN1 NM_000138.4(FBN1): c.4087+1G> A single nucleotide variant Pathogenic rs387906548 GRCh38 Chromosome 15, 48474527: 48474527
7 FBN1 NM_000138.4(FBN1): c.3128A> G (p.Lys1043Arg) single nucleotide variant Pathogenic rs137854472 GRCh37 Chromosome 15, 48780645: 48780645
8 FBN1 NM_000138.4(FBN1): c.3128A> G (p.Lys1043Arg) single nucleotide variant Pathogenic rs137854472 GRCh38 Chromosome 15, 48488448: 48488448
9 FBN1 NM_000138.4(FBN1): c.3391A> T (p.Asn1131Tyr) single nucleotide variant Pathogenic rs137854473 GRCh37 Chromosome 15, 48779581: 48779581
10 FBN1 NM_000138.4(FBN1): c.3391A> T (p.Asn1131Tyr) single nucleotide variant Pathogenic rs137854473 GRCh38 Chromosome 15, 48487384: 48487384
11 FBN1 NM_000138.4(FBN1): c.3217G> A (p.Glu1073Lys) single nucleotide variant Pathogenic rs137854478 GRCh37 Chromosome 15, 48780430: 48780430
12 FBN1 NM_000138.4(FBN1): c.3217G> A (p.Glu1073Lys) single nucleotide variant Pathogenic rs137854478 GRCh38 Chromosome 15, 48488233: 48488233
13 FBN1 NM_000138.4(FBN1): c.3095G> A (p.Cys1032Tyr) single nucleotide variant Pathogenic rs137854481 GRCh37 Chromosome 15, 48780678: 48780678
14 FBN1 NM_000138.4(FBN1): c.3095G> A (p.Cys1032Tyr) single nucleotide variant Pathogenic rs137854481 GRCh38 Chromosome 15, 48488481: 48488481
15 FBN1 NM_000138.4(FBN1): c.3257G> A (p.Cys1086Tyr) single nucleotide variant Pathogenic rs137854484 GRCh37 Chromosome 15, 48780390: 48780390
16 FBN1 NM_000138.4(FBN1): c.3257G> A (p.Cys1086Tyr) single nucleotide variant Pathogenic rs137854484 GRCh38 Chromosome 15, 48488193: 48488193

Expression for Neonatal Marfan Syndrome

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

Pathways for Neonatal Marfan Syndrome

Pathways related to Neonatal Marfan Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.28 DCN FBN1

GO Terms for Neonatal Marfan Syndrome

Cellular components related to Neonatal Marfan Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix GO:0031012 8.96 DCN FBN1
2 collagen-containing extracellular matrix GO:0062023 8.62 DCN FBN1

Biological processes related to Neonatal Marfan Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix organization GO:0030198 8.96 DCN FBN1
2 kidney development GO:0001822 8.62 DCN FBN1

Sources for Neonatal Marfan Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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