MRSHSS
MCID: MRS004
MIFTS: 49

Marshall-Smith Syndrome (MRSHSS)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Marshall-Smith Syndrome

MalaCards integrated aliases for Marshall-Smith Syndrome:

Name: Marshall-Smith Syndrome 56 12 74 52 58 73 36 29 13 6 43 15 39 71
Mrshss 56 73
Accelerated Skeletal Maturation-Facial Dysmorphism-Failure to Thrive Syndrome 58
Mss 73

Characteristics:

Orphanet epidemiological data:

58
marshall-smith syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
de novo mutation
early death


HPO:

31
marshall-smith syndrome:
Inheritance autosomal dominant inheritance sporadic
Clinical modifier death in childhood


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


Summaries for Marshall-Smith Syndrome

NIH Rare Diseases : 52 Marshall-Smith syndrome (MRSHSS) is a genetic disorder in which individuals typically have advanced bone age, difficulties gaining weight (failure to thrive), unique facial features, and intellectual disability . Other signs and symptoms of this condition may include eye abnormalities, breathing difficulties, and neurological issues. Individuals may also have heart defects, an increased amount of body hair (hirsutism), and flat feet (pes planus). MRSHSS is caused by mutations in the NFIX gene . Most individuals with MRSHSS are the first in their family with this condition and are said to have a spontaneous (de novo ) mutation. Although there is no specific treatment or cure for MRSHSS, there may be ways to manage the symptoms. A team of doctors is often needed to figure out the treatment options based on each person's symptoms. Aggressive management of the early breathing and feeding problems may improve survival in individuals affected by this condition.

MalaCards based summary : Marshall-Smith Syndrome, also known as mrshss, is related to overgrowth syndrome and sotos syndrome 1, and has symptoms including apnea An important gene associated with Marshall-Smith Syndrome is NFIX (Nuclear Factor I X), and among its related pathways/superpathways are RNA Polymerase III Transcription Initiation and Pathways Affected in Adenoid Cystic Carcinoma. Affiliated tissues include bone, eye and heart, and related phenotypes are intellectual disability and bowing of the long bones

Disease Ontology : 12 A syndrome that is characterized by advanced bone age, failure to thrive, respiratory problems, dysmorphic facial features, and variable mental retardation.

OMIM : 56 The Marshall-Smith syndrome is a malformation syndrome characterized by accelerated skeletal maturation, relative failure to thrive, respiratory difficulties, mental retardation, and unusual facies, including prominent forehead, shallow orbits, blue sclerae, depressed nasal bridge, and micrognathia (Adam et al., 2005). (602535)

KEGG : 36 Marshall-Smith syndrome (MSS) is a distinct malformation syndrome characterized by accelerated skeletal maturation, relative failure to thrive, respiratory difficulties, mental retardation, and unusual facies, including prominent forehead, shallow orbits, blue sclerae, depressed nasal bridge, and micrognathia. The majority of reported cases died in infancy or early childhood commonly from respiratory compromise. A study demonstrates that NFIX haploinsufficiency is responsible for MSS.

UniProtKB/Swiss-Prot : 73 Marshall-Smith syndrome: A distinct malformation syndrome characterized by accelerated skeletal maturation, relative failure to thrive, respiratory difficulties, mental retardation, and unusual facies, including prominent forehead, shallow orbits, blue sclerae, depressed nasal bridge, and micrognathia. Additional skeletal findings include long and thin tubular bones, broad middle phalanges with relatively narrow distal phalanges, and scoliosis.

Wikipedia : 74 Marshall-Smith Syndrome, discovered in 1971 (Marshall, Graham, Scott, Boner, & Smith), is characterized... more...

Related Diseases for Marshall-Smith Syndrome

Diseases related to Marshall-Smith Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 66)
# Related Disease Score Top Affiliating Genes
1 overgrowth syndrome 30.9 NSD1 NFIX
2 sotos syndrome 1 30.2 NSD1 NFIX
3 weaver syndrome 30.0 NSD1 NFIX
4 marinesco-sjogren syndrome 12.2
5 mesomelia-synostoses syndrome 11.6
6 marshall syndrome 11.5
7 short-rib thoracic dysplasia 9 with or without polydactyly 11.3
8 multiple synostoses syndrome 1 11.2
9 congenital cataracts, facial dysmorphism, and neuropathy 11.2
10 colorectal cancer 10.4
11 laryngomalacia 10.3
12 sotos syndrome 2 10.3
13 scoliosis 10.3
14 ezh2-related overgrowth 10.3
15 hypotonia 10.3
16 adenocarcinoma 10.2
17 lynch syndrome 10.2
18 cornelia de lange syndrome 5 10.2 NSD1 NFIX
19 pectus excavatum 10.1
20 septooptic dysplasia 10.1
21 odontochondrodysplasia 10.1
22 autism 10.1
23 hydrocephalus, congenital, 1 10.1
24 immune deficiency disease 10.1
25 megalocornea 10.1
26 3-methylglutaconic aciduria, type iii 10.1
27 choanal atresia, posterior 10.1
28 cerebellar hypoplasia 10.1
29 hydronephrosis 10.1
30 heart septal defect 10.1
31 atrial heart septal defect 10.1
32 spinal stenosis 10.1
33 exophthalmos 10.1
34 chromosomal triplication 10.1
35 chromosome 2q duplication 10.1
36 growth hormone deficiency 10.1
37 precocious puberty 10.1
38 skeletal dysplasias 10.1
39 central precocious puberty 10.1
40 spasticity 10.1
41 high-grade astrocytoma 10.1 NFIB NFIA
42 juvenile polyposis syndrome 10.0
43 triiodothyronine receptor auxiliary protein 10.0
44 homocystinuria due to deficiency of n -methylenetetrahydrofolate reductase activity 10.0
45 ataxia and polyneuropathy, adult-onset 10.0
46 autoimmune lymphoproliferative syndrome 10.0
47 human immunodeficiency virus type 1 10.0
48 major affective disorder 8 10.0
49 major affective disorder 9 10.0
50 cholangiocarcinoma 10.0

Graphical network of the top 20 diseases related to Marshall-Smith Syndrome:



Diseases related to Marshall-Smith Syndrome

Symptoms & Phenotypes for Marshall-Smith Syndrome

Human phenotypes related to Marshall-Smith Syndrome:

58 31 (show top 50) (show all 72)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
2 bowing of the long bones 58 31 hallmark (90%) Very frequent (99-80%) HP:0006487
3 anteverted nares 58 31 hallmark (90%) Very frequent (99-80%) HP:0000463
4 failure to thrive 58 31 hallmark (90%) Very frequent (99-80%) HP:0001508
5 prominent forehead 58 31 hallmark (90%) Very frequent (99-80%) HP:0011220
6 retrognathia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000278
7 slender long bone 58 31 hallmark (90%) Very frequent (99-80%) HP:0003100
8 joint hyperflexibility 58 31 hallmark (90%) Very frequent (99-80%) HP:0005692
9 proptosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000520
10 accelerated skeletal maturation 58 31 hallmark (90%) Very frequent (99-80%) HP:0005616
11 thin skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0000963
12 hypertelorism 58 31 frequent (33%) Frequent (79-30%) HP:0000316
13 scoliosis 58 31 frequent (33%) Frequent (79-30%) HP:0002650
14 short nose 58 31 frequent (33%) Frequent (79-30%) HP:0003196
15 reduced bone mineral density 58 31 frequent (33%) Frequent (79-30%) HP:0004349
16 open mouth 58 31 frequent (33%) Frequent (79-30%) HP:0000194
17 conductive hearing impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000405
18 protruding tongue 58 31 frequent (33%) Frequent (79-30%) HP:0010808
19 generalized hirsutism 58 31 frequent (33%) Frequent (79-30%) HP:0002230
20 bruising susceptibility 58 31 frequent (33%) Frequent (79-30%) HP:0000978
21 blue sclerae 58 31 frequent (33%) Frequent (79-30%) HP:0000592
22 increased susceptibility to fractures 58 31 frequent (33%) Frequent (79-30%) HP:0002659
23 gingival overgrowth 58 31 occasional (7.5%) Occasional (29-5%) HP:0000212
24 optic atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0000648
25 choanal atresia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000453
26 ventriculomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0002119
27 craniosynostosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001363
28 cerebellar hypoplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001321
29 abnormality of cardiovascular system morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0030680
30 hearing impairment 31 HP:0000365
31 depressed nasal bridge 31 HP:0005280
32 muscular hypotonia 31 HP:0001252
33 umbilical hernia 31 HP:0001537
34 thick eyebrow 31 HP:0000574
35 frontal bossing 31 HP:0002007
36 pulmonary arterial hypertension 31 HP:0002092
37 short sternum 31 HP:0000879
38 low-set ears 31 HP:0000369
39 hypertension 31 HP:0000822
40 pectus excavatum 31 HP:0000767
41 atrial septal defect 31 HP:0001631
42 motor delay 31 HP:0001270
43 overfolded helix 31 HP:0000396
44 patent ductus arteriosus 31 HP:0001643
45 laryngomalacia 31 HP:0001601
46 apnea 31 HP:0002104
47 malar flattening 31 HP:0000272
48 short philtrum 31 HP:0000322
49 agenesis of corpus callosum 31 HP:0001274
50 glossoptosis 31 HP:0000162

Symptoms via clinical synopsis from OMIM:

56
Skeletal Spine:
scoliosis
odontoid hypoplasia
atlantoaxial subluxation

Head And Neck Nose:
short nose
anteverted nares
flat nasal bridge
upturned nose

Head And Neck Face:
prominent forehead
retrognathia
micrognathia
short philtrum
midface hypoplasia
more
Head And Neck Ears:
low-set ears
deafness
overfolded helices

Respiratory Nasopharynx:
choanal atresia
obstructive sleep apnea
choanal stenosis

Respiratory Larynx:
laryngomalacia

Head And Neck Mouth:
glossoptosis
gum hypertrophy
everted lips

Neurologic Central Nervous System:
cerebral atrophy
macrogyria
hypotonia
mental retardation
absent corpus callosum
more
Head And Neck Teeth:
irregular dentition

Skeletal Limbs:
thin long bones

Growth Height:
accelerated linear growth

Respiratory Airways:
rudimentary epiglottis

Abdomen External Features:
umbilical hernia
omphalocele

Growth Other:
failure to thrive

Chest Ribs Sternum Clavicles And Scapulae:
short sternum
pectus excavatum
large sternal ossification centers
thick clavicles

Cardiovascular Heart:
atrial septal defect

Cardiovascular Vascular:
patent ductus arteriosus

Respiratory Lung:
apnea
aspiration pneumonia
pulmonary hypertension

Head And Neck Eyes:
synophrys
shallow orbits
prominent eyes
bushy eyebrows
bluish sclerae

Skin Nails Hair Hair:
hypertrichosis

Skeletal Hands:
distal widening of metacarpals
wide proximal and middle phalanges
bullet-shaped middle phalanges
narrow distal phalanges

Skeletal Skull:
prominent frontal bone
long cranium
underdeveloped mandibular rami

Growth Weight:
underweight for length

Skeletal:
accelerated skeletal maturation (bone age of 4 at birth)

Clinical features from OMIM:

602535

UMLS symptoms related to Marshall-Smith Syndrome:


apnea

GenomeRNAi Phenotypes related to Marshall-Smith Syndrome according to GeneCards Suite gene sharing:

26 (show all 16)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-105 9.62 LTBP4 NFIB NFIC PDHB
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-115 9.62 NFIC PDHB
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-116 9.62 NFIC
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-122 9.62 PDHB
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-127 9.62 NFIC
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-133 9.62 LTBP4
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-139 9.62 PDHB
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-144 9.62 NFIB
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-145 9.62 PDHB
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-183 9.62 LTBP4
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-2 9.62 LTBP4
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-206 9.62 PDHB
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-25 9.62 NFIB
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-35 9.62 NFIB
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-43 9.62 PDHB
16 Decreased shRNA abundance (Z-score < -2) GR00366-A-54 9.62 PDHB

MGI Mouse Phenotypes related to Marshall-Smith Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 9.36 CSRNP3 LTBP4 NACC1 NFIA NFIB NFIC

Drugs & Therapeutics for Marshall-Smith Syndrome

Search Clinical Trials , NIH Clinical Center for Marshall-Smith Syndrome

Cochrane evidence based reviews: marshall-smith syndrome

Genetic Tests for Marshall-Smith Syndrome

Genetic tests related to Marshall-Smith Syndrome:

# Genetic test Affiliating Genes
1 Marshall-Smith Syndrome 29 NFIX

Anatomical Context for Marshall-Smith Syndrome

MalaCards organs/tissues related to Marshall-Smith Syndrome:

40
Bone, Eye, Heart, Skin, Tongue, T Cells

Publications for Marshall-Smith Syndrome

Articles related to Marshall-Smith Syndrome:

(show top 50) (show all 67)
# Title Authors PMID Year
1
Novel mutations of NFIX gene causing Marshall-Smith syndrome or Sotos-like syndrome: one gene, two phenotypes. 61 6 56
26200704 2015
2
Deletions in the 3' part of the NFIX gene including a recurrent Alu-mediated deletion of exon 6 and 7 account for previously unexplained cases of Marshall-Smith syndrome. 56 61 6
24924640 2014
3
Distinct effects of allelic NFIX mutations on nonsense-mediated mRNA decay engender either a Sotos-like or a Marshall-Smith syndrome. 56 61 6
20673863 2010
4
Marshall-Smith syndrome: natural history and evidence of an osteochondrodysplasia with connective tissue abnormalities. 56 6 61
16086394 2005
5
Anaesthetic management of a child with Marshall-Smith syndrome. 61 56 6
9717599 1998
6
Phenotype and natural history in Marshall-Smith syndrome. 52 61 56
20949508 2010
7
Visual impairment and prolonged survival in a girl with Marshall-Smith syndrome. 61 56
16531739 2006
8
Marshall-Smith syndrome: Follow-up report of a four and a half year old male. 56 61
15054853 2004
9
Osseous fragility in Marshall-Smith syndrome. 61 56
12749068 2003
10
Marshall-Smith syndrome: case report of a newborn male and review of the literature. 56 61
10457856 1999
11
Neonatal death in Marshall-Smith syndrome. 61 56
9555581 1998
12
Marshall-Smith syndrome: the expanding phenotype. 61 56
9350818 1997
13
The Marshall-Smith syndrome: a review of the laryngeal complications. 61 56
9208244 1997
14
Long survival of a patient with Marshall-Smith syndrome without respiratory complications. 56 61
8230168 1993
15
Marshall-Smith syndrome: new aspects. 56 61
3205374 1988
16
Marshall-Smith syndrome: Novel pathogenic variant and previously unreported associations with precocious puberty and aortic root dilatation. 61 52
28442439 2017
17
Update on the Marshall-Smith-Weaver controversy. 56
3993681 1985
18
The syndromes of Marshall and Weaver. 56
7401127 1980
19
Syndrome of accelerated skeletal maturation and relative failure to thrive: a newly recognized clinical growth disorder. 56
4321601 1971
20
Successful respiratory management of a Marshall-Smith syndrome patient with a tracheo-innominate artery fistula. 61
32444904 2020
21
Traumatic globe rupture in a patient with Marshall-Smith Syndrome. 61
31077931 2019
22
Variants in nuclear factor I genes influence growth and development. 61
31730271 2019
23
Malan syndrome: Extension of genotype and phenotype spectrum. 61
30548146 2018
24
Further delineation of Malan syndrome. 61
29897170 2018
25
Mutations in NSD1 and NFIX in Three Patients with Clinical Features of Sotos Syndrome and Malan Syndrome. 61
29142766 2017
26
NFIX mutations affecting the DNA-binding domain cause a peculiar overgrowth syndrome (Malan syndrome): a new patients series. 61
26193383 2015
27
Malan syndrome: Sotos-like overgrowth with de novo NFIX sequence variants and deletions in six new patients and a review of the literature. 61
25118028 2015
28
Marshall-Smith syndrome. 61
25813678 2015
29
Surgical correction of severe kyphoscoliosis resulting in a neurological complication in Marshall-Smith syndrome. 61
23943225 2015
30
Neonatal Marshall-Smith syndrome. 61
24556605 2014
31
A peculiar mutation in the DNA-binding/dimerization domain of NFIX causes Sotos-like overgrowth syndrome: a new case. 61
22982744 2012
32
Missense mutations in the DNA-binding/dimerization domain of NFIX cause Sotos-like features. 61
22301465 2012
33
Development and behaviour in Marshall-Smith syndrome: an exploratory study of cognition, phenotype and autism. 61
21790824 2011
34
A pigmentary skin defect is a new finding in Marshall-Smith syndrome. 61
21739579 2011
35
[Anesthetic implications of Marshall-Smith syndrome]. 61
21534299 2011
36
Anesthesia out of surgical area in a child with Marshall-Smith Syndrome. 61
21273971 2011
37
Maxillomandibular distraction osteogenesis for Marshall-Smith syndrome. 61
20303330 2010
38
Treatment of refractory hip pain with sodium hyaluronate (Hyalgan(c)) in a patient with the Marshall-Smith Syndrome: A case report. 61
20731866 2010
39
Marshall-Smith syndrome and septo-optic dysplasia: an unreported association. 61
18627063 2008
40
Omphalocele and gastroschisis and associated malformations. 61
18386803 2008
41
Airway management and fiberoptic tracheal intubation via the laryngeal mask in a child with Marshall-Smith syndrome. 61
18315650 2008
42
[Anesthesia in a patient with Marshall-Smith syndrome: case report]. 61
19462115 2007
43
Syndromes and disorders associated with omphalocele (III): single gene disorders, neural tube defects, diaphragmatic defects and others. 61
17638618 2007
44
Congenital abnormalities and clinical features associated with Wilms' tumour: a comprehensive study from a centre serving a large population. 61
17499987 2007
45
Long-term follow-up of Marshall-Smith syndrome: report of one case. 61
15624371 2004
46
Marshall Smith syndrome and pregnancy. 61
14766465 2004
47
[A case of Marshall-Smith syndrome]. 61
13677277 2003
48
Marshall-Smith syndrome in a Taiwanese patient with T-cell immunodeficiency. 61
12239732 2002
49
Long-term survival of a patient with Marshall-Smith syndrome. 61
12038204 2002
50
[Marshall-Smith syndrome]. 61
11528666 2001

Variations for Marshall-Smith Syndrome

ClinVar genetic disease variations for Marshall-Smith Syndrome:

6 (show all 48) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 NFIX NM_002501.4(NFIX):c.927dup (p.Ser310fs)duplication Pathogenic 435981 rs1555705733 19:13186455-13186456 19:13075641-13075642
2 NFIX NC_000019.9:g.(?_13106632)_(13428155_?)deldeletion Pathogenic 473244 19:13106632-13428155
3 NFIX NM_002501.4(NFIX):c.416G>A (p.Gly139Glu)SNV Pathogenic 487523 rs1555696625 19:13136223-13136223 19:13025409-13025409
4 NFIX NM_002501.4(NFIX):c.358del (p.Leu120fs)deletion Pathogenic 540464 rs1555696611 19:13136164-13136164 19:13025350-13025350
5 NFIX NC_000019.10:g.(?_13075535)_(13078735_?)deldeletion Pathogenic 583425 19:13186349-13189549 19:13075535-13078735
6 NFIX NM_002501.4(NFIX):c.136A>T (p.Lys46Ter)SNV Pathogenic 620018 rs1568268397 19:13135943-13135943 19:13025129-13025129
7 NFIX NM_002501.4(NFIX):c.232A>T (p.Lys78Ter)SNV Pathogenic 639180 19:13136039-13136039 19:13025225-13025225
8 NFIX NM_002501.4(NFIX):c.303dup (p.Cys102fs)duplication Pathogenic 654601 19:13136104-13136105 19:13025290-13025291
9 NFIX NC_000019.9:g.(?_13186329)_(13189569_?)dupduplication Pathogenic 665055 19:13186329-13189569 19:13075515-13078755
10 NFIX NM_002501.4(NFIX):c.933_943del (p.Trp312fs)deletion Pathogenic 692076 19:13186462-13186472 19:13075648-13075658
11 NFIX NM_002501.4(NFIX):c.1131_1137dup (p.Ser380fs)duplication Pathogenic 692120 19:13192545-13192546 19:13081731-13081732
12 NFIX NM_002501.4(NFIX):c.43_49dup (p.Glu17fs)duplication Pathogenic 661035 19:13135847-13135848 19:13025033-13025034
13 NFIX NM_002501.4(NFIX):c.327_340del (p.Gln110fs)deletion Pathogenic 803528 19:13136132-13136145 19:13025318-13025331
14 NFIX NM_002501.4(NFIX):c.799_812del (p.Thr267fs)deletion Pathogenic 803529 19:13184819-13184832 19:13074005-13074018
15 NFIX NC_000019.10:g.(?_13087969)_(13094669_?)deldeletion Pathogenic 833187 19:13198783-13205483
16 NFIX NM_002501.4(NFIX):c.1308del (p.Thr438fs)deletion Pathogenic 864837 19:13201163-13201163 19:13090349-13090349
17 NFIX NG_032925.2:g.84282_90211deldeletion Pathogenic 864838
18 NFIX NM_002501.4(NFIX):c.818+561_956-804deldeletion Pathogenic 864839 19:13185396-13188618 19:13074582-13077804
19 NFIX NM_002501.4(NFIX):c.568C>T (p.Gln190Ter)SNV Pathogenic 36956 rs387907253 19:13183869-13183869 19:13073055-13073055
20 NFIX NM_002501.4(NFIX):c.1009_1010TC[1] (p.Gln338fs)short repeat Pathogenic 36957 rs398122869 19:13189479-13189480 19:13078665-13078666
21 NFIX NM_002501.4(NFIX):c.1037dup (p.Thr347fs)duplication Pathogenic 36958 rs398122870 19:13189505-13189506 19:13078691-13078692
22 NFIX NM_002501.4(NFIX):c.1003_1007CTCTC[1] (p.Ser337fs)short repeat Pathogenic 36959 rs398122871 19:13189473-13189477 19:13078659-13078663
23 NFIX NM_002501.4(NFIX):c.1049dup (p.Leu351fs)duplication Pathogenic 36960 rs398122872 19:13189517-13189518 19:13078703-13078704
24 NFIX NM_002501.4(NFIX):c.1243del (p.Ala415fs)deletion Pathogenic 36961 rs398122873 19:13192657-13192657 19:13081843-13081843
25 NFIX NM_002501.4(NFIX):c.994dup (p.Cys332fs)duplication Pathogenic 36962 rs398122874 19:13189464-13189465 19:13078650-13078651
26 NFIX NM_002501.4(NFIX):c.959dup (p.Ala321fs)duplication Pathogenic 36963 rs398122875 19:13189427-13189428 19:13078613-13078614
27 NFIX NM_002501.4(NFIX):c.955+1G>ASNV Pathogenic 36964 rs398122876 19:13186486-13186486 19:13075672-13075672
28 NFIX NM_002501.4(NFIX):c.955+1G>TSNV Pathogenic 36965 rs398122876 19:13186486-13186486 19:13075672-13075672
29 NFIX NM_002501.4(NFIX):c.60_75dup (p.Phe26fs)duplication Pathogenic 842270 19:13135863-13135864 19:13025049-13025050
30 NFIX NM_002501.4(NFIX):c.970_971del (p.Lys324fs)deletion Pathogenic 211593 rs797045738 19:13189440-13189441 19:13078626-13078627
31 NFIX NM_002501.4(NFIX):c.1080_1096del (p.Ser361fs)deletion Pathogenic 211591 rs797045737 19:13192494-13192510 19:13081680-13081696
32 NFIX NM_002501.4(NFIX):c.955+2T>CSNV Likely pathogenic 581126 rs1568318932 19:13186487-13186487 19:13075673-13075673
33 NFIX NM_002501.4(NFIX):c.834del (p.Lys279fs)deletion Likely pathogenic 623197 rs1568318540 19:13186361-13186361 19:13075547-13075547
34 NFIX NM_002501.4(NFIX):c.988G>A (p.Asp330Asn)SNV Uncertain significance 565825 rs1215112413 19:13189459-13189459 19:13078645-13078645
35 NFIX NM_002501.4(NFIX):c.143T>C (p.Met48Thr)SNV Uncertain significance 653227 19:13135950-13135950 19:13025136-13025136
36 NFIX NM_002501.4(NFIX):c.113G>T (p.Arg38Leu)SNV Uncertain significance 843697 19:13135920-13135920 19:13025106-13025106
37 NFIX NM_002501.4(NFIX):c.1275T>C (p.Pro425=)SNV Uncertain significance 862100 19:13201133-13201133 19:13090319-13090319
38 NFIX NM_002501.4(NFIX):c.183G>A (p.Leu61=)SNV Likely benign 389919 rs369196245 19:13135990-13135990 19:13025176-13025176
39 NFIX NM_002501.4(NFIX):c.600G>A (p.Ala200=)SNV Likely benign 783249 19:13183901-13183901 19:13073087-13073087
40 NFIX NM_002501.4(NFIX):c.28-891dupduplication Likely benign 803527 19:13134927-13134928 19:13024113-13024114
41 NFIX NM_002501.4(NFIX):c.1235C>T (p.Ser412Leu)SNV Likely benign 833858 19:13192650-13192650 19:13081836-13081836
42 NFIX NM_002501.4(NFIX):c.117G>A (p.Lys39=)SNV Likely benign 707679 19:13135924-13135924 19:13025110-13025110
43 NFIX NM_002501.4(NFIX):c.1143C>T (p.Ser381=)SNV Likely benign 707572 19:13192558-13192558 19:13081744-13081744
44 NFIX NM_002501.4(NFIX):c.252G>T (p.Arg84=)SNV Likely benign 771267 19:13136059-13136059 19:13025245-13025245
45 NFIX NM_002501.4(NFIX):c.1236G>A (p.Ser412=)SNV Benign 767492 19:13192651-13192651 19:13081837-13081837
46 NFIX NM_002501.4(NFIX):c.1140G>A (p.Ser380=)SNV Benign 198780 rs201174259 19:13192555-13192555 19:13081741-13081741
47 NFIX NM_002501.4(NFIX):c.346C>T (p.Arg116Trp)SNV no interpretation for the single variant 559943 rs1555696603 19:13136153-13136153 19:13025339-13025339
48 NFIX NM_002501.4(NFIX):c.348G>A (p.Arg116=)SNV no interpretation for the single variant 559944 rs1555696606 19:13136155-13136155 19:13025341-13025341

Expression for Marshall-Smith Syndrome

Search GEO for disease gene expression data for Marshall-Smith Syndrome.

Pathways for Marshall-Smith Syndrome

GO Terms for Marshall-Smith Syndrome

Cellular components related to Marshall-Smith Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nuclear chromatin GO:0000790 9.02 NFIX NFIC NFIB NFIA CSRNP3

Biological processes related to Marshall-Smith Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 9.55 NFIX NFIC NFIB NFIA CSRNP3
2 negative regulation of transcription by RNA polymerase II GO:0000122 9.43 NSD1 NFIX NFIC NFIB NFIA NACC1
3 DNA replication GO:0006260 8.92 NFIX NFIC NFIB NFIA

Molecular functions related to Marshall-Smith Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001228 9.56 NFIC NFIB NFIA CSRNP3
2 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.55 NFIX NFIC NFIB NFIA CSRNP3
3 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.35 NSD1 NFIC NFIB NFIA NACC1
4 DNA-binding transcription factor activity GO:0003700 9.1 NFIX NFIC NFIB NFIA NACC1 CSRNP3

Sources for Marshall-Smith 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
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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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