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, Orphanet:ORPHA561,SNOMED CT:73284007; MedGen:C3553660,OMIM:614753, Orphanet:ORPHA420179191310663213428155-C0265211 602535 Marshall-Smith syndrome;
NM_002501.4(NFIX):c.28-891dup4784NFIXLikely benign-1RCV000990159; NMedGen:C0265211,OMIM:602535, Orphanet:ORPHA561,SNOMED CT:7328400719131349271313492819:g.13134927_13134928insA-
NM_002501.4(NFIX):c.43_49dup (p.Glu17fs)4784NFIXPathogenic-1RCV000818364; RCV000818364; NMedGen:C0265211,OMIM:602535, Orphanet:ORPHA561,SNOMED CT:73284007; MedGen:C3553660,OMIM:614753, Orphanet:ORPHA42017919131358471313584819:g.13135847_13135848insCGTTCAT-
NM_002501.4(NFIX):c.136A>T (p.Lys46Ter)4784NFIXPathogenicrs1568268397RCV000760224; RCV000760224; NMedGen:C0265211,OMIM:602535, Orphanet:ORPHA561,SNOMED CT:73284007; MedGen:C3553660,OMIM:614753, Orphanet:ORPHA42017919131359431313594319:g.13135943A>T-
NM_002501.4(NFIX):c.143T>C (p.Met48Thr)4784NFIXUncertain significance-1RCV000808961; RCV000808961; NMedGen:C0265211,OMIM:602535, Orphanet:ORPHA561,SNOMED CT:73284007; MedGen:C3553660,OMIM:614753, Orphanet:ORPHA42017919131359501313595019:g.13135950T>C-
NM_002501.4(NFIX):c.232A>T (p.Lys78Ter)4784NFIXPathogenic-1RCV000791914; RCV000791914; NMedGen:C0265211,OMIM:602535, Orphanet:ORPHA561,SNOMED CT:73284007; MedGen:C3553660,OMIM:614753, Orphanet:ORPHA42017919131360391313603919:g.13136039A>T-
NM_002501.4(NFIX):c.303dup (p.Cys102fs)4784NFIXPathogenic-1RCV000810600; RCV000810600; NMedGen:C0265211,OMIM:602535, Orphanet:ORPHA561,SNOMED CT:73284007; MedGen:C3553660,OMIM:614753, Orphanet:ORPHA42017919131361041313610519:g.13136104_13136105insC-
NM_002501.4(NFIX):c.327_340del (p.Gln110fs)4784NFIXPathogenic-1RCV000990160; NMedGen:C0265211,OMIM:602535, Orphanet:ORPHA561,SNOMED CT:7328400719131361321313614519:g.13136132_13136145del-
NM_002501.4(NFIX):c.346C>T (p.Arg116Trp)4784NFIXno interpretation for the single variantrs1555696603RCV000850456; RCV000677671; NMedGen:CN263130; MedGen:C0265211,OMIM:602535, Orphanet:ORPHA561,SNOMED CT:7328400719131361531313615319:g.13136153C>T-
NM_002501.4(NFIX):c.348G>A (p.Arg116=)4784NFIXno interpretation for the single variantrs1555696606RCV000850456; RCV000677671; NMedGen:CN263130; MedGen:C0265211,OMIM:602535, Orphanet:ORPHA561,SNOMED CT:7328400719131361551313615519:g.13136155G>A-
NM_002501.4(NFIX):c.358del (p.Leu120fs)4784NFIXPathogenicrs1555696611RCV000650505; RCV000650505; NMedGen:C0265211,OMIM:602535, Orphanet:ORPHA561,SNOMED CT:73284007; MedGen:C3553660,OMIM:614753, Orphanet:ORPHA42017919131361641313616419:g.13136164_13136164del-C0265211 602535 Marshall-Smith syndrome;
NM_002501.4(NFIX):c.416G>A (p.Gly139Glu)4784NFIXPathogenicrs1555696625RCV000677236; NMedGen:C0265211,OMIM:602535, Orphanet:ORPHA561,SNOMED CT:7328400719131362231313622319:g.13136223G>A-
NM_002501.4(NFIX):c.799_812del (p.Thr267fs)4784NFIXPathogenic-1RCV000990162; NMedGen:C0265211,OMIM:602535, Orphanet:ORPHA561,SNOMED CT:7328400719131848191318483219:g.13184819_13184832del-
NC_000019.9:g.(?_13186329)_(13189569_?)dup4784NFIXPathogenic-1RCV000823261; RCV000823261; NMedGen:C0265211,OMIM:602535, Orphanet:ORPHA561,SNOMED CT:73284007; MedGen:C3553660,OMIM:614753, Orphanet:ORPHA420179191318632913189569-
NC_000019.9:g.(?_13186349)_(13189549_?)del4784NFIXPathogenic-1RCV000707751; RCV000707751; NMedGen:C0265211,OMIM:602535, Orphanet:ORPHA561,SNOMED CT:73284007; MedGen:C3553660,OMIM:614753, Orphanet:ORPHA420179191318634913189549-C0265211 602535 Marshall-Smith syndrome;
NM_002501.4(NFIX):c.834del (p.Lys279fs)4784NFIXLikely pathogenicrs1568318540RCV000761317; NMedGen:C0265211,OMIM:602535, Orphanet:ORPHA561,SNOMED CT:7328400719131863611318636119:g.13186361_13186361del-
NM_002501.4(NFIX):c.927dup (p.Ser310fs)4784NFIXPathogenicrs1555705733RCV000503907; NMedGen:C0265211,OMIM:602535, Orphanet:ORPHA561,SNOMED CT:7328400719131864551318645619:g.13186455_13186456insC-
NM_002501.4(NFIX):c.933_943del (p.Trp312fs)4784NFIXPathogenic-1RCV000853379; NMedGen:C0265211,OMIM:602535, Orphanet:ORPHA561,SNOMED CT:7328400719131864621318647219:g.13186462_13186472del-
NM_002501.4(NFIX):c.955+2T>C4784NFIXLikely pathogenicrs1568318932RCV000704861; RCV000704861; NMedGen:C0265211,OMIM:602535, Orphanet:ORPHA561,SNOMED CT:73284007; MedGen:C3553660,OMIM:614753, Orphanet:ORPHA42017919131864871318648719:g.13186487T>C-C0265211 602535 Marshall-Smith syndrome;
NM_002501.4(NFIX):c.970_971del (p.Lys324fs)4784NFIXPathogenicrs797045738RCV000194821; NMedGen:C0265211,OMIM:602535, Orphanet:ORPHA561,SNOMED CT:7328400719131894401318944119:g.13189440_13189441del-
NM_002501.4(NFIX):c.988G>A (p.Asp330Asn)4784NFIXUncertain significancers1215112413RCV000685480; RCV000685480; NMedGen:C0265211,OMIM:602535, Orphanet:ORPHA561,SNOMED CT:73284007; MedGen:C3553660,OMIM:614753, Orphanet:ORPHA42017919131894591318945919:g.13189459G>A-C0265211 602535 Marshall-Smith syndrome;
NM_002501.4(NFIX):c.1080_1096del (p.Ser361fs)4784NFIXPathogenicrs797045737RCV000192696; NMedGen:C0265211,OMIM:602535, Orphanet:ORPHA561,SNOMED CT:7328400719131924941319251019:g.13192494_13192510del-
NM_002501.4(NFIX):c.1131_1137dup (p.Ser380fs)4784NFIXPathogenic-1RCV000853419; NMedGen:C0265211,OMIM:602535, Orphanet:ORPHA561,SNOMED CT:7328400719131925451319254619:g.13192545_13192546insCCAGCAG-
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