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Hello! Guest! Please Login or Register! Clinician Mode

Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Hearing Loss Disease Portal

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Abnormalities, Multiple (D000015)
Parent Node: Bone Diseases, Developmental (D001848)
Parent Node: Craniofacial Abnormalities (D019465)
Parent Node: Septo-Optic Dysplasia (D025962)
..Starting node ..Marshall-Smith syndrome (C536026)
Child Nodes:
Sister Nodes:
..Absence of septum pellucidum (C535562)
..Growth Hormone Deficiency With Pituitary Anomalies (C567632)
..Hypopituitarism and septooptic 'dysplasia' (C531815)
..Marshall-Smith syndrome (C536026)
..Optic nerve hypoplasia, familial bilateral (C537130)
..Pagon Stephan syndrome (C538100)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

6802

Name:

Marshall-Smith syndrome

Definition:

Alternative IDs:

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:

Slim Mappings:

Congenital abnormality|Musculoskeletal disease|Nervous system disease

Reference:

MedGen: C536026
MeSH: C536026
OMIM: 602535;

Genes: NFIX;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0005616	Accelerated skeletal maturation
3	HP:0001274	Agenesis of corpus callosum
4	HP:0000463	Anteverted nares
5	HP:0002104	Apnea
6	HP:0003414	Atlantoaxial dislocation
7	HP:0001631	Atrial septal defect
8	HP:0000592	Blue sclerae
9	HP:0009845	Bullet-shaped middle phalanges of the hand
10	HP:0002059	Cerebral atrophy
11	HP:0000453	Choanal atresia
12	HP:0000452	Choanal stenosis
13	HP:0003819	Death in childhood
14	HP:0004325	Decreased body weight
15	HP:0005280	Depressed nasal bridge
16	HP:0006048	Distal widening of metacarpals
17	HP:0012472	Eclabion
18	HP:0001508	Failure to thrive
19	HP:0002007	Frontal bossing
20	HP:0001290	Generalized hypotonia
21	HP:0000212	Gingival overgrowth
22	HP:0000162	Glossoptosis
23	HP:0000365	Hearing impairment
24	HP:0003311	Hypoplasia of the odontoid process
25	HP:0001252	Hypotonia
26	HP:0001249	Intellectual disability
27	HP:0040079	Irregular dentition
28	HP:0006642	Large sternal ossification centers
29	HP:0001601	Laryngomalacia
30	HP:0000369	Low-set ears
31	HP:0007227	Macrogyria
32	HP:0000272	Malar flattening
33	HP:0011800	Midface retrusion
34	HP:0001270	Motor delay
35	HP:0002870	Obstructive sleep apnea
36	HP:0001539	Omphalocele
37	HP:0000396	Overfolded helix
38	HP:0001643	Patent ductus arteriosus
39	HP:0000767	Pectus excavatum
40	HP:0010759	Prominence of the premaxilla
41	HP:0011220	Prominent forehead
42	HP:0002092	Pulmonary arterial hypertension
43	HP:0002100	Recurrent aspiration pneumonia
44	HP:0000278	Retrognathia
45	HP:0002650	Scoliosis
46	HP:0000586	Shallow orbits
47	HP:0009882	Short distal phalanx of finger
48	HP:0003778	Short mandibular rami
49	HP:0003196	Short nose
50	HP:0000322	Short philtrum
51	HP:0000879	Short sternum
52	HP:0003100	Slender long bone
53	HP:0003745	Sporadic
54	HP:0000664	Synophrys
55	HP:0000098	Tall stature
56	HP:0000574	Thick eyebrow
57	HP:0001537	Umbilical hernia

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_002501.3(NFIX):c.955+1G>A	4784	NFIX	Pathogenic	398122876	RCV000030644;	N	MedGen:C0265211,OMIM:602535,ORPHA:561,SNOMED CT:73284007	19	13186486	13186486	NM_002501.3:c.955+1G>A		NC_000019.9:g.13186486G>A,NC_000019.9:g.13186486G>T	OMIM Allelic Variant:164005.0009	C0265211 602535 Marshall-Smith syndrome
NM_002501.3(NFIX):c.955+1G>T	4784	NFIX	Pathogenic	398122876	RCV000030645;	N	MedGen:C0265211,OMIM:602535,ORPHA:561,SNOMED CT:73284007	19	13186486	13186486	NM_002501.3:c.955+1G>T		NC_000019.9:g.13186486G>A,NC_000019.9:g.13186486G>T	OMIM Allelic Variant:164005.0010	C0265211 602535 Marshall-Smith syndrome
NM_002501.3(NFIX):c.959dupC (p.Ala321Glyfs)	4784	NFIX	Pathogenic	398122875	RCV000030643;	N	MedGen:C0265211,OMIM:602535,ORPHA:561,SNOMED CT:73284007	19	13189430	13189430	NM_002501.3:c.959dupC	NP_002492.2:p.Ala321Glyfs	NC_000019.9:g.13189430dupC	OMIM Allelic Variant:164005.0008	C0265211 602535 Marshall-Smith syndrome
NM_002501.3(NFIX):c.970_971delAA (p.Lys324Glufs)	4784	NFIX	Pathogenic	797045738	RCV000194821;	N	MedGen:C0265211,OMIM:602535,ORPHA:561,SNOMED CT:73284007	19	13189441	13189442	NM_002501.3:c.970_971delAA	NP_002492.2:p.Lys324Glufs	NC_000019.9:g.13189441_13189442delAA	-	C0265211 602535 Marshall-Smith syndrome
NM_002501.3(NFIX):c.994dupT (p.Cys332Leufs)	4784	NFIX	Pathogenic	398122874	RCV000030642;	N	MedGen:C0265211,OMIM:602535,ORPHA:561,SNOMED CT:73284007	19	13189465	13189465	NM_002501.3:c.994dupT	NP_002492.2:p.Cys332Leufs	NC_000019.9:g.13189465dupT	OMIM Allelic Variant:164005.0007	C0265211 602535 Marshall-Smith syndrome
NM_002501.3(NFIX):c.1008_1012delCTCTC (p.Ser337Glyfs)	4784	NFIX	Pathogenic	398122871	RCV000030639;	N	MedGen:C0265211,OMIM:602535,ORPHA:561,SNOMED CT:73284007	19	13189479	13189483	NM_002501.3:c.1008_1012delCTCTC	NP_002492.2:p.Ser337Glyfs	NC_000019.9:g.13189479_13189483delCTCTC	OMIM Allelic Variant:164005.0004	C0265211 602535 Marshall-Smith syndrome
NM_002501.3(NFIX):c.1011_1012delTC (p.Gln338Glyfs)	4784	NFIX	Pathogenic	398122869	RCV000030637;	N	MedGen:C0265211,OMIM:602535,ORPHA:561,SNOMED CT:73284007	19	13189482	13189483	NM_002501.3:c.1011_1012delTC	NP_002492.2:p.Gln338Glyfs	NC_000019.9:g.13189482_13189483delTC	OMIM Allelic Variant:164005.0002	C0265211 602535 Marshall-Smith syndrome
NM_002501.3(NFIX):c.1037dupT (p.Thr347Hisfs)	4784	NFIX	Pathogenic	398122870	RCV000030638;	N	MedGen:C0265211,OMIM:602535,ORPHA:561,SNOMED CT:73284007	19	13189508	13189508	NM_002501.3:c.1037dupT	NP_002492.2:p.Thr347Hisfs	NC_000019.9:g.13189508dupT	OMIM Allelic Variant:164005.0003	C0265211 602535 Marshall-Smith syndrome
NM_002501.3(NFIX):c.1049dupC (p.Leu351Alafs)	4784	NFIX	Pathogenic	398122872	RCV000030640;	N	MedGen:C0265211,OMIM:602535,ORPHA:561,SNOMED CT:73284007	19	13189520	13189520	NM_002501.3:c.1049dupC	NP_002492.2:p.Leu351Alafs	NC_000019.9:g.13189520dupC	OMIM Allelic Variant:164005.0005	C0265211 602535 Marshall-Smith syndrome
NM_002501.3(NFIX):c.1080_1096del17 (p.Ser361Ilefs)	4784	NFIX	Pathogenic	797045737	RCV000192696;	N	MedGen:C0265211,OMIM:602535,ORPHA:561,SNOMED CT:73284007	19	13192495	13192511	NM_002501.3:c.1080_1096del17	NP_002492.2:p.Ser361Ilefs	NC_000019.9:g.13192495_13192511del17	-	C0265211 602535 Marshall-Smith syndrome
NM_002501.3(NFIX):c.1243delG (p.Ala415Profs)	4784	NFIX	Pathogenic	398122873	RCV000030641;	N	MedGen:C0265211,OMIM:602535,ORPHA:561,SNOMED CT:73284007	19	13192658	13192658	NM_002501.3:c.1243delG	NP_002492.2:p.Ala415Profs	NC_000019.9:g.13192658delG	OMIM Allelic Variant:164005.0006	C0265211 602535 Marshall-Smith syndrome