MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
  Most Studied  CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO
Term ID:7452
Name:Marshall-Smith syndrome
Definition:
Alternative IDs:OMIM:602535
ParentIDs:MESH:D000015|MESH:D001848|MESH:D019465|MESH:D025962
TreeNumbers:C05.116.099/C536026 |C05.660.207/C536026 |C10.500.840/C536026 |C16.131.077/C536026 |C16.131.621.207/C536026 |C16.131.666.845/C536026
Synonyms:MRSHSS
Slim Mappings:Congenital abnormality|Musculoskeletal disease|Nervous system disease
Reference: MedGen: C536026
MeSH: C536026
OMIM: 602535;
MSeqDR LSDB:  
Genes: ETFA; ETFB; ETFDH; NFIX;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0005616Accelerated skeletal maturation
3 HP:0001274Agenesis of corpus callosum
4 HP:0000463Anteverted nares
5 HP:0002104Apnea
6 HP:0003414Atlantoaxial dislocation
7 HP:0001631Atrial septal defect
8 HP:0000592Blue sclerae
9 HP:0009845Bullet-shaped middle phalanges of the hand
10 HP:0002059Cerebral atrophy
11 HP:0000453Choanal atresia
12 HP:0000452Choanal stenosis
13 HP:0003819Death in childhood
14 HP:0004325Decreased body weight
15 HP:0005280Depressed nasal bridge
16 HP:0006048Distal widening of metacarpals
17 HP:0012472Eclabion
18 HP:0001508Failure to thrive
19 HP:0002007Frontal bossing
20 HP:0001290Generalized hypotonia
21 HP:0000212Gingival overgrowth
22 HP:0000162Glossoptosis
23 HP:0000365Hearing impairment
24 HP:0003311Hypoplasia of the odontoid process
25 HP:0001249Intellectual disability
26 HP:0040079Irregular dentition
27 HP:0006642Large sternal ossification centers
28 HP:0001601Laryngomalacia
29 HP:0000369Low-set ears
30 HP:0007227Macrogyria
31 HP:0000272Malar flattening
32 HP:0011800Midface retrusion
33 HP:0001270Motor delay
34 HP:0001252Muscular hypotonia
NAMDC:  Hypotonia
35 HP:0002870Obstructive sleep apnea
36 HP:0001539Omphalocele
37 HP:0000396Overfolded helix
38 HP:0001643Patent ductus arteriosus
39 HP:0000767Pectus excavatum
40 HP:0010759Prominence of the premaxilla
41 HP:0011220Prominent forehead
42 HP:0002092Pulmonary arterial hypertension
43 HP:0002100Recurrent aspiration pneumonia
44 HP:0000278Retrognathia
45 HP:0002650Scoliosis
46 HP:0000586Shallow orbits
47 HP:0009882Short distal phalanx of finger
48 HP:0003778Short mandibular rami
49 HP:0003196Short nose
50 HP:0000322Short philtrum
51 HP:0000879Short sternum
52 HP:0003100Slender long bone
53 HP:0003745Sporadic
54 HP:0000664Synophrys
55 HP:0000098Tall stature
56 HP:0000574Thick eyebrow
57 HP:0001537Umbilical hernia
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NC_000019.9:g.(?_13106632)_(13428155_?)del4784NFIXPathogenic-1RCV000543828; RCV000543828; NMedGen:C0265211,OMIM:602535,SNOMED CT:73284007; MedGen:C3553660,OMIM:614753, Orphanet:ORPHA420179191310663213428155-C0265211 602535 Marshall-Smith syndrome;
NM_001271043.2(NFIX):c.160A>T (p.Lys54Ter)4784NFIXPathogenic-1RCV000760224; RCV000760224; NMedGen:C0265211,OMIM:602535,SNOMED CT:73284007; MedGen:C3553660,OMIM:614753, Orphanet:ORPHA420179191313594313135943-
NM_001271043.2(NFIX):c.207G>A (p.Leu69=)4784NFIXLikely benign369196245RCV000536835; RCV000536835; RCV000425767; NMedGen:C0265211,OMIM:602535,SNOMED CT:73284007; MedGen:C3553660,OMIM:614753, Orphanet:ORPHA420179; MedGen:CN169374191313599013135990-C0265211 602535 Marshall-Smith syndrome;
NM_002501.3(NFIX):c.346C>T (p.Arg116Trp)4784NFIXno interpretation for the single variant1555696603RCV000677671; NMedGen:C0265211,OMIM:602535,SNOMED CT:73284007191313615313136153-C0265211 602535 Marshall-Smith syndrome;
NM_002501.3(NFIX):c.348G>A (p.Arg116=)4784NFIXno interpretation for the single variant1555696606RCV000677671; NMedGen:C0265211,OMIM:602535,SNOMED CT:73284007191313615513136155-C0265211 602535 Marshall-Smith syndrome;
NM_001271043.2(NFIX):c.382del (p.Leu128Cysfs)4784NFIXPathogenic1555696611RCV000650505; RCV000650505; NMedGen:C0265211,OMIM:602535,SNOMED CT:73284007; MedGen:C3553660,OMIM:614753, Orphanet:ORPHA420179191313616513136165-C0265211 602535 Marshall-Smith syndrome;
NM_001271043.2(NFIX):c.440G>A (p.Gly147Glu)4784NFIXPathogenic1555696625RCV000677236; NMedGen:C0265211,OMIM:602535,SNOMED CT:73284007191313622313136223-C0265211 602535 Marshall-Smith syndrome;
NM_001271043.2(NFIX):c.811C>T (p.Arg271Trp)4784NFIXUncertain significance-1RCV000702379; RCV000702379; NMedGen:C0265211,OMIM:602535,SNOMED CT:73284007; MedGen:C3553660,OMIM:614753, Orphanet:ORPHA420179191318480913184809-C0265211 602535 Marshall-Smith syndrome;
NC_000019.10:g.(?_13075535)_(13078735_?)del4784NFIXPathogenic-1RCV000707751; RCV000707751; NMedGen:C0265211,OMIM:602535,SNOMED CT:73284007; MedGen:C3553660,OMIM:614753, Orphanet:ORPHA420179191318634913189549-C0265211 602535 Marshall-Smith syndrome;
NM_001271043.1:c.858delC4784NFIXLikely pathogenic-1RCV000761317; NMedGen:C0265211,OMIM:602535,SNOMED CT:73284007191318636413186364-
NM_002501.3(NFIX):c.927dup (p.Ser310Glnfs)4784NFIXPathogenic1555705733RCV000503907; NMedGen:C0265211,OMIM:602535,SNOMED CT:73284007191318645713186457-C0265211 602535 Marshall-Smith syndrome;
NM_002501.3(NFIX):c.955+1G>A4784NFIXPathogenic398122876RCV000030644; NMedGen:C0265211,OMIM:602535,SNOMED CT:73284007191318648613186486OMIM Allelic Variant:164005.0009C0265211 602535 Marshall-Smith syndrome;
NM_002501.3(NFIX):c.955+1G>T4784NFIXPathogenic398122876RCV000030645; NMedGen:C0265211,OMIM:602535,SNOMED CT:73284007191318648613186486OMIM Allelic Variant:164005.0010C0265211 602535 Marshall-Smith syndrome;
NM_001271043.2(NFIX):c.979+2T>C4784NFIXLikely pathogenic-1RCV000704861; RCV000704861; NMedGen:C0265211,OMIM:602535,SNOMED CT:73284007; MedGen:C3553660,OMIM:614753, Orphanet:ORPHA420179191318648713186487-C0265211 602535 Marshall-Smith syndrome;
NM_002501.3(NFIX):c.959_960insC (p.Ala321Glyfs)4784NFIXPathogenic398122875RCV000030643; NMedGen:C0265211,OMIM:602535,SNOMED CT:73284007191318943013189430OMIM Allelic Variant:164005.0008C0265211 602535 Marshall-Smith syndrome;
NM_002501.3(NFIX):c.970_971del (p.Lys324Glufs)4784NFIXPathogenic797045738RCV000194821; NMedGen:C0265211,OMIM:602535,SNOMED CT:73284007191318944113189442-
NM_001271043.2(NFIX):c.1012G>A (p.Asp338Asn)4784NFIXUncertain significance-1RCV000685480; RCV000685480; NMedGen:C0265211,OMIM:602535,SNOMED CT:73284007; MedGen:C3553660,OMIM:614753, Orphanet:ORPHA420179191318945913189459-C0265211 602535 Marshall-Smith syndrome;
NM_002501.3(NFIX):c.994_995insT (p.Cys332Leufs)4784NFIXPathogenic398122874RCV000030642; NMedGen:C0265211,OMIM:602535,SNOMED CT:73284007191318946513189465OMIM Allelic Variant:164005.0007C0265211 602535 Marshall-Smith syndrome;
NM_002501.3(NFIX):c.1008_1012del (p.Ser337Glyfs)4784NFIXPathogenic398122871RCV000030639; NMedGen:C0265211,OMIM:602535,SNOMED CT:73284007191318947913189483OMIM Allelic Variant:164005.0004
NM_002501.3(NFIX):c.1011_1012del (p.Gln338Glyfs)4784NFIXPathogenic398122869RCV000030637; NMedGen:C0265211,OMIM:602535,SNOMED CT:73284007191318948213189483OMIM Allelic Variant:164005.0002
NM_002501.3(NFIX):c.1037_1038insT (p.Thr347Hisfs)4784NFIXPathogenic398122870RCV000030638; NMedGen:C0265211,OMIM:602535,SNOMED CT:73284007191318950813189508OMIM Allelic Variant:164005.0003C0265211 602535 Marshall-Smith syndrome;
NM_002501.3(NFIX):c.1048_1049insC (p.Leu351Alafs)4784NFIXPathogenic398122872RCV000030640; NMedGen:C0265211,OMIM:602535,SNOMED CT:73284007191318952013189520OMIM Allelic Variant:164005.0005C0265211 602535 Marshall-Smith syndrome;
NM_002501.3(NFIX):c.1080_1096del (p.Ser361Ilefs)4784NFIXPathogenic797045737RCV000192696; NMedGen:C0265211,OMIM:602535,SNOMED CT:73284007191319249513192511-
NM_001271043.2(NFIX):c.1164G>A (p.Ser388=)4784NFIXBenign201174259RCV000558511; RCV000558511; RCV000180230; NMedGen:C0265211,OMIM:602535,SNOMED CT:73284007; MedGen:C3553660,OMIM:614753, Orphanet:ORPHA420179; MedGen:CN169374191319255513192555-C0265211 602535 Marshall-Smith syndrome;
NM_002501.3(NFIX):c.1243del (p.Ala415Profs)4784NFIXPathogenic398122873RCV000030641; NMedGen:C0265211,OMIM:602535,SNOMED CT:73284007191319265813192658OMIM Allelic Variant:164005.0006
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