MCID: NNT039
MIFTS: 34

Neonatal Marfan Syndrome

Categories: Bone diseases, Cardiovascular diseases, Rare diseases

Aliases & Classifications for Neonatal Marfan Syndrome

MalaCards integrated aliases for Neonatal Marfan Syndrome:

Name: Neonatal Marfan Syndrome 58
Marfan Syndrome, Neonatal 29 6
Neonatal Mfs 58

Characteristics:

Orphanet epidemiological data:

58
neonatal marfan syndrome
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 58  
Rare circulatory system diseases
Rare systemic and rhumatological diseases


Summaries for Neonatal Marfan Syndrome

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

Related Diseases for Neonatal Marfan Syndrome

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:

58 31 (show all 44)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 emphysema 58 31 obligate (100%) Obligate (100%),Very frequent (99-80%) HP:0002097
2 mitral regurgitation 58 31 obligate (100%) Obligate (100%),Very frequent (99-80%) HP:0001653
3 tricuspid regurgitation 58 31 obligate (100%) Obligate (100%),Very frequent (99-80%) HP:0005180
4 pectus carinatum 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0000768
5 flexion contracture 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0001371
6 lipoatrophy 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0100578
7 feeding difficulties 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0011968
8 enlarged thorax 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0100625
9 motor delay 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0001270
10 mitral valve prolapse 58 31 hallmark (90%) Very frequent (99-80%) HP:0001634
11 neonatal respiratory distress 58 31 hallmark (90%) Very frequent (99-80%) HP:0002643
12 arachnodactyly 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0001166
13 ectopia lentis 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0001083
14 dolichocephaly 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0000268
15 megalocornea 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0000485
16 adducted thumb 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0001181
17 decreased testicular size 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0008734
18 hypoxemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0012418
19 tricuspid valve prolapse 58 31 hallmark (90%) Very frequent (99-80%) HP:0001704
20 cutis laxa 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0000973
21 small for gestational age 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0001518
22 high myopia 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0011003
23 iridodonesis 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0100693
24 long toe 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0010511
25 abnormal cardiac ventricle morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0001713
26 abnormal echocardiogram 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0003116
27 talipes calcaneovarus 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0008124
28 heart murmur 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0030148
29 ascending tubular aorta aneurysm 58 31 hallmark (90%) Very frequent (99-80%) HP:0004970
30 aortic root aneurysm 31 hallmark (90%) HP:0002616
31 muscular hypotonia 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0001252
32 wide nasal bridge 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0000431
33 micrognathia 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0000347
34 low-set ears 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0000369
35 high, narrow palate 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0002705
36 joint hypermobility 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0001382
37 downslanted palpebral fissures 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0000494
38 deeply set eye 58 31 frequent (33%) Frequent (79-30%) HP:0000490
39 hyporeflexia 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0001265
40 blue sclerae 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0000592
41 crumpled ear 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0009901
42 increased arm span 58 31 frequent (33%) Frequent (79-30%) HP:0012771
43 long fingers 58 Very frequent (99-80%),Very frequent (99-80%)
44 dilatation of ascending aorta 58 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 Marfan Syndrome, Neonatal 29

Anatomical Context for Neonatal Marfan Syndrome

MalaCards organs/tissues related to Neonatal Marfan Syndrome:

40
Eye, Bone, Heart

Publications for Neonatal Marfan Syndrome

Articles related to Neonatal Marfan Syndrome:

(show top 50) (show all 82)
# Title Authors PMID Year
1
Familial neonatal Marfan syndrome due to parental mosaicism of a missense mutation in the FBN1 gene. 61 6
17366579 2007
2
Neonatal Marfan syndrome caused by an exon 25 mutation of the fibrillin-1 gene. 61 6
15287423 2004
3
Three novel fibrillin mutations in exons 25 and 27: classic versus neonatal Marfan syndrome. 61 6
9101298 1997
4
Recurrent mis-splicing of fibrillin exon 32 in two patients with neonatal Marfan syndrome. 6 61
7633409 1995
5
Mutations in the fibrillin gene responsible for dominant ectopia lentis and neonatal Marfan syndrome. 6 61
8136837 1994
6
Decreased extracellular deposition of fibrillin and decorin in neonatal Marfan syndrome fibroblasts. 61 6
8428751 1993
7
FBN1, TGFBR1, and the Marfan-craniosynostosis/mental retardation disorders revisited. 6
16596670 2006
8
Mutations in calcium-binding epidermal growth factor modules render fibrillin-1 susceptible to proteolysis. A potential disease-causing mechanism in Marfan syndrome. 6
10766875 2000
9
Neonatal Marfan Syndrome by Inherited Mutation. 61
32557139 2020
10
Decellularized Bovine Pericardial Mitral Valve in a Neonatal Marfan Patient. 61
32151574 2020
11
Prenatal diagnosis of Marfan syndrome by fetal echocardiography: A case report and review of cardiovascular manifestations. 61
31879971 2020
12
Neonatal Marfan Syndrome: A Rare, Severe, and Life-Threatening Genetic Disease. 61
31053350 2019
13
Neonatal Marfan Syndrome. 61
31238364 2019
14
Microcornea and bilateral ectopia lentis in an infant: unusual severe ocular presentation of neonatal Marfan syndrome. 61
30447425 2019
15
Bilateral Immediate Sequential Vitrectomy and Lensectomy for Bilateral Lens Dislocation in Severe Neonatal Marfan Syndrome. 61
30395677 2018
16
Losartan in combination with propranolol slows the aortic root dilatation in neonatal Marfan syndrome. 61
28823387 2018
17
Childhood glaucoma in neonatal Marfan syndrome resulting from a novel FBN1 deletion. 61
28985825 2017
18
Neonatal Marfan syndrome: Report of two cases. 61
28759179 2017
19
Neonatal Marfan syndrome diagnosed prenatally. 61
28157248 2017
20
A Case of Neonatal Marfan Syndrome: A Management Conundrum and the Role of a Multidisciplinary Team. 61
28168077 2017
21
Atypical Neonatal Marfan Syndrome with p.Glu1073Lys Mutation of FBN1: the First Case in Korea. 61
27914124 2017
22
Palliative Mitral Valve Repair During Infancy for Neonatal Marfan Syndrome. 61
27106438 2016
23
A novel fibrillin-1 gene missense mutation associated with neonatal Marfan syndrome: a case report and review of the mutation spectrum. 61
27138491 2016
24
Neonatal Marfan Syndrome: Report of a Case with an Inherited Splicing Mutation outside the Neonatal Domain. 61
27022329 2016
25
Neonatal Marfan syndrome with angle-closure glaucoma, tricuspid and mitral insufficiency. 61
26043516 2015
26
Paternal fibrillin-1 mutation transmitted to an affected son with neonatal marfan syndrome: the importance of early recognition. 61
23930893 2014
27
Neonatal Marfan syndrome: a successful early multidisciplinary approach. 61
24928929 2014
28
Neonatal marfan syndrome with hiatus hernia and intrathoracic stomach. 61
23897310 2013
29
Juvenile idiopathic arthritis, mitral valve prolapse and a familial variant involving the integrin-binding fragment of FBN1. 61
23794388 2013
30
A case of neonatal Marfan syndrome with good late follow-up: is it possible to avoid an early unfavourable outcome? 61
22813538 2013
31
Neonatal marfan syndrome: report of two cases. 61
23549323 2013
32
Functional pulmonary atresia in newborn with normal intracardiac anatomy: Successful treatment with inhaled nitric oxide and pulmonary vasodilators. 61
23626445 2013
33
[Recent progress in Marfan syndrome]. 61
22440060 2012
34
Classical and neonatal Marfan syndrome mutations in fibrillin-1 cause differential protease susceptibilities and protein function. 61
21784848 2011
35
Prenatal diagnosis of neonatal Marfan syndrome. 61
21442627 2011
36
Central nervous system abnormalities in two cases with neonatal Marfan syndrome with novel mutations in the fibrillin-1 gene. 61
20803651 2010
37
Neonatal Marfan syndrome: unusually large deletion of exons 24-26 of FBN1 associated with poor prognosis. 61
20455198 2010
38
Novel exon nucleotide substitution at the splice junction causes a neonatal Marfan syndrome. 61
20132243 2010
39
Growing rods for infantile scoliosis in Marfan syndrome. 61
19770613 2009
40
Clinical and molecular study of 320 children with Marfan syndrome and related type I fibrillinopathies in a series of 1009 probands with pathogenic FBN1 mutations. 61
19117906 2009
41
Identification of 23 TGFBR2 and 6 TGFBR1 gene mutations and genotype-phenotype investigations in 457 patients with Marfan syndrome type I and II, Loeys-Dietz syndrome and related disorders. 61
18781618 2008
42
Functional pulmonary atresia in a patient with neonatal Marfan syndrome caused by a c.3602G>A mutation in exon 29 of the FBN1 gene. 61
18388785 2008
43
Novel fibrillin 1 mutation in a case of neonatal Marfan syndrome: the increasing importance of early recognition. 61
18377451 2007
44
Surgical correction of mitral valve prolapse : a cure for recurrent ventricular tachycardia in Marfan syndrome? 61
17019535 2006
45
Neonatal Marfan syndrome : in utero presentation with aortic and pulmonary artery dilatation and successful repair of an acute flail mitral valve leaflet in infancy. 61
17091324 2006
46
Severe infantile Marfan syndrome versus neonatal Marfan syndrome. 61
16222685 2005
47
Neonatal Marfan syndrome: clinical report and review of the literature. 61
15770129 2005
48
Splicing mutation in the fibrillin-1 gene associated with neonatal Marfan syndrome and severe pulmonary emphysema with tracheobronchomalacia. 61
15666366 2005
49
Cardiac transplantation in neonatal Marfan syndrome -- a life-saving approach. 61
15704038 2005
50
Primary trabeculodysgenesis in association with neonatal Marfan syndrome. 61
15264290 2004

Variations for Neonatal Marfan Syndrome

ClinVar genetic disease variations for Neonatal Marfan Syndrome:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 FBN1 NM_000138.4(FBN1):c.3220T>C (p.Cys1074Arg)SNV Pathogenic 16438 rs137854465 15:48780427-48780427 15:48488230-48488230
2 FBN1 NM_000138.4(FBN1):c.3965-2A>TSNV Pathogenic 16441 rs387906547 15:48766849-48766849 15:48474652-48474652
3 FBN1 NM_000138.4(FBN1):c.4087+1G>ASNV Pathogenic 16442 rs387906548 15:48766724-48766724 15:48474527-48474527
4 FBN1 NM_000138.4(FBN1):c.3128A>G (p.Lys1043Arg)SNV Pathogenic 16446 rs137854472 15:48780645-48780645 15:48488448-48488448
5 FBN1 NM_000138.4(FBN1):c.3391A>T (p.Asn1131Tyr)SNV Pathogenic 16447 rs137854473 15:48779581-48779581 15:48487384-48487384
6 FBN1 NM_000138.4(FBN1):c.3217G>A (p.Glu1073Lys)SNV Pathogenic 16457 rs137854478 15:48780430-48780430 15:48488233-48488233
7 FBN1 NM_000138.4(FBN1):c.3095G>A (p.Cys1032Tyr)SNV Pathogenic 16462 rs137854481 15:48780678-48780678 15:48488481-48488481
8 FBN1 NM_000138.4(FBN1):c.3257G>A (p.Cys1086Tyr)SNV Pathogenic 16465 rs137854484 15:48780390-48780390 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
11.61 FBN1 DCN
2 10.6 FBN1 DCN

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 collagen-containing extracellular matrix GO:0062023 8.96 FBN1 DCN
2 extracellular matrix GO:0031012 8.62 FBN1 DCN

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 FBN1 DCN
2 kidney development GO:0001822 8.62 FBN1 DCN

Sources for Neonatal Marfan Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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