MCID: NNT039
MIFTS: 34

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 bone, heart and eye, and related phenotypes are low-set ears and muscular hypotonia

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 32.1 DCN FBN1
2 isolated ectopia lentis 10.0
3 pulmonary emphysema 9.8
4 diaphragmatic eventration 9.8
5 hydronephrosis 9.8
6 mitral valve insufficiency 9.8
7 tracheobronchomalacia 9.8
8 bullous keratopathy 9.8 DCN FBN1
9 aortic aneurysm, familial abdominal, 1 9.8 DCN FBN1
10 myopia 9.7 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:

59 32 (show all 47)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 low-set ears 59 32 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0000369
2 muscular hypotonia 59 32 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0001252
3 wide nasal bridge 59 32 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0000431
4 pectus carinatum 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0000768
5 flexion contracture 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0001371
6 lipoatrophy 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0100578
7 emphysema 59 32 obligate (100%) Obligate (100%),Very frequent (99-80%) HP:0002097
8 micrognathia 59 32 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0000347
9 feeding difficulties 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0011968
10 megalocornea 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0000485
11 dolichocephaly 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0000268
12 enlarged thorax 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0100625
13 high, narrow palate 59 32 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0002705
14 motor delay 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0001270
15 deeply set eye 59 32 frequent (33%) Frequent (79-30%) HP:0000490
16 decreased testicular size 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0008734
17 mitral regurgitation 59 32 obligate (100%) Obligate (100%),Very frequent (99-80%) HP:0001653
18 arachnodactyly 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0001166
19 ectopia lentis 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0001083
20 joint hypermobility 59 32 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0001382
21 mitral valve prolapse 59 32 hallmark (90%) Very frequent (99-80%) HP:0001634
22 downslanted palpebral fissures 59 32 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0000494
23 hypoxemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0012418
24 adducted thumb 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0001181
25 hyporeflexia 59 32 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0001265
26 blue sclerae 59 32 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0000592
27 neonatal respiratory distress 59 32 hallmark (90%) Very frequent (99-80%) HP:0002643
28 tricuspid valve prolapse 59 32 hallmark (90%) Very frequent (99-80%) HP:0001704
29 tricuspid regurgitation 59 32 obligate (100%) Obligate (100%),Very frequent (99-80%) HP:0005180
30 small for gestational age 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0001518
31 crumpled ear 59 32 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0009901
32 heart murmur 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0030148
33 iridodonesis 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0100693
34 long toe 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0010511
35 cutis laxa 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0000973
36 talipes calcaneovarus 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0008124
37 abnormal echocardiogram 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0003116
38 increased arm span 59 32 frequent (33%) Frequent (79-30%) HP:0012771
39 long fingers 59 Very frequent (99-80%),Very frequent (99-80%)
40 severe myopia 59 Very frequent (99-80%),Very frequent (99-80%)
41 abnormality of cardiac ventricle 59 Very frequent (99-80%)
42 dilatation of ascending aorta 59 Very frequent (99-80%)
43 ascending aortic dilation 59 Very frequent (99-80%)
44 high myopia 32 hallmark (90%) HP:0011003
45 aortic root aneurysm 32 hallmark (90%) HP:0002616
46 ascending tubular aorta aneurysm 32 hallmark (90%) HP:0004970
47 abnormal cardiac ventricle morphology 32 hallmark (90%) HP:0001713

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 29

Anatomical Context for Neonatal Marfan Syndrome

MalaCards organs/tissues related to Neonatal Marfan Syndrome:

41
Bone, Heart, Eye

Publications for Neonatal Marfan Syndrome

Articles related to Neonatal Marfan Syndrome:

(show top 50) (show all 54)
# Title Authors Year
1
Bilateral Immediate Sequential Vitrectomy and Lensectomy for Bilateral Lens Dislocation in Severe Neonatal Marfan Syndrome. ( 30395677 )
2018
2
Microcornea and bilateral ectopia lentis in an infant: unusual severe ocular presentation of neonatal Marfan syndrome. ( 30447425 )
2018
3
Atypical Neonatal Marfan Syndrome with p.Glu1073Lys Mutation of FBN1: the First Case in Korea. ( 27914124 )
2017
4
Neonatal Marfan syndrome diagnosed prenatally. ( 28157248 )
2017
5
Losartan in combination with propranolol slows the aortic root dilatation in neonatal Marfan syndrome. ( 28823387 )
2017
6
A Case of Neonatal Marfan Syndrome: A Management Conundrum and the Role of a Multidisciplinary Team. ( 28168077 )
2017
7
Neonatal Marfan syndrome: Report of two cases. ( 28759179 )
2017
8
Childhood glaucoma in neonatal Marfan syndrome resulting from a novel FBN1 deletion. ( 28985825 )
2017
9
Neonatal Marfan Syndrome: Report of a Case with an Inherited Splicing Mutation outside the Neonatal Domain. ( 27022329 )
2016
10
A novel fibrillin-1 gene missense mutation associated with neonatal Marfan syndrome: a case report and review of the mutation spectrum. ( 27138491 )
2016
11
Palliative Mitral Valve Repair During Infancy for Neonatal Marfan Syndrome. ( 27106438 )
2016
12
Neonatal Marfan syndrome with angle-closure glaucoma, tricuspid and mitral insufficiency. ( 26043516 )
2015
13
Neonatal Marfan syndrome: a successful early multidisciplinary approach. ( 24928929 )
2014
14
A case of neonatal Marfan syndrome with good late follow-up: is it possible to avoid an early unfavourable outcome? ( 22813538 )
2013
15
Neonatal marfan syndrome with hiatus hernia and intrathoracic stomach. ( 23897310 )
2013
16
Paternal fibrillin-1 mutation transmitted to an affected son with neonatal marfan syndrome: the importance of early recognition. ( 23930893 )
2013
17
Neonatal marfan syndrome: report of two cases. ( 23549323 )
2013
18
Classical and neonatal Marfan syndrome mutations in fibrillin-1 cause differential protease susceptibilities and protein function. ( 21784848 )
2011
19
Prenatal diagnosis of neonatal Marfan syndrome. ( 21442627 )
2011
20
Central nervous system abnormalities in two cases with neonatal Marfan syndrome with novel mutations in the fibrillin-1 gene. ( 20803651 )
2010
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
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
24
Novel fibrillin 1 mutation in a case of neonatal Marfan syndrome: the increasing importance of early recognition. ( 18377451 )
2007
25
Familial neonatal Marfan syndrome due to parental mosaicism of a missense mutation in the FBN1 gene. ( 17366579 )
2007
26
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
27
Severe infantile Marfan syndrome versus neonatal Marfan syndrome. ( 16222685 )
2005
28
Splicing mutation in the fibrillin-1 gene associated with neonatal Marfan syndrome and severe pulmonary emphysema with tracheobronchomalacia. ( 15666366 )
2005
29
Cardiac transplantation in neonatal Marfan syndrome -- a life-saving approach. ( 15704038 )
2005
30
Neonatal Marfan syndrome: clinical report and review of the literature. ( 15770129 )
2005
31
Neonatal Marfan syndrome caused by an exon 25 mutation of the fibrillin-1 gene. ( 15287423 )
2004
32
Primary trabeculodysgenesis in association with neonatal Marfan syndrome. ( 15264290 )
2004
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
A recurring FBN1 gene mutation in neonatal Marfan syndrome. ( 12413333 )
2002
35
Classic, atypically severe and neonatal Marfan syndrome: twelve mutations and genotype-phenotype correlations in FBN1 exons 24-40. ( 11175294 )
2001
36
Pathology teach and tell: neonatal Marfan syndrome. ( 11486354 )
2001
37
Popliteal pterygium associated with neonatal Marfan syndrome: case report. ( 11446416 )
2001
38
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
39
Clinical, pathological and molecular genetic findings in a case of neonatal Marfan syndrome. ( 10090557 )
1999
40
Novel exon skipping mutation in the fibrillin-1 gene: two 'hot spots' for the neonatal Marfan syndrome. ( 10189088 )
1999
41
Neonatal Marfan syndrome: a case report. ( 10404462 )
1999
42
Three novel fibrillin mutations in exons 25 and 27: classic versus neonatal Marfan syndrome. ( 9101298 )
1997
43
Hiatus/paraesophageal hernias in neonatal Marfan syndrome. ( 9382135 )
1997
44
Double mutant fibrillin-1 (FBN1) allele in a patient with neonatal Marfan syndrome. ( 8880577 )
1996
45
A point mutation creating an extra N-glycosylation site in fibrillin-1 results in neonatal Marfan syndrome. ( 8884270 )
1996
46
Recurrent mis-splicing of fibrillin exon 32 in two patients with neonatal Marfan syndrome. ( 7633409 )
1995
47
Abnormal morphology of fibrillin microfibrils in fibroblast cultures from patients with neonatal Marfan syndrome. ( 7778680 )
1995
48
Clinical and immunohistochemical findings in a case of neonatal Marfan syndrome. ( 8580640 )
1995
49
Mutations in the fibrillin gene responsible for dominant ectopia lentis and neonatal Marfan syndrome. ( 8136837 )
1994
50
Severe neonatal Marfan syndrome resulting from a de novo 3-bp insertion into the fibrillin gene on chromosome 15. ( 8116614 )
1994

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 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
50 NCIt
51 NDF-RT
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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