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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: Craniofacial Abnormalities (D019465)
Parent Node: Plagiocephaly (D059041)
Parent Node: Synostosis (D013580)
..Starting node ..Craniosynostoses (D003398)
Child Nodes:
........Acrocephalosyndactylia (D000168) 11
........Aurocephalosyndactyly (C566235)
........Baraitser Rodeck Garner syndrome (C537906)
........Bohring syndrome (C537419)
........C SYNDROME (OMIM:211750)
........Calabro syndrome (C537960)
........Cole Carpenter syndrome (C535963)
........Cranioectodermal Dysplasia (C562966) 1
........Craniometaphyseal dysplasia, autosomal recessive type (C536570)
........Craniosynostosis Mental Retardation Clefting Syndrome (C565663)
........Craniosynostosis Microcephaly with Chromosomal Breakage and Other Abnormalities (C565667)
........Craniosynostosis radial aplasia syndrome (C536788)
........Craniosynostosis Syndrome, Autosomal Recessive (C564700)
........Craniosynostosis with Anomalies of the Cranial Base and Digits (C565666)
........Craniosynostosis with Ectopia Lentis (C566357)
........Craniosynostosis with Fibular Aplasia (C565665)
........Craniosynostosis with Ocular Abnormalities and Hallucal Defects (C564263)
........Craniosynostosis, Adelaide Type (C563471)
........Craniosynostosis, anal anomalies, and porokeratosis (C536789)
........Craniosynostosis, Calcification of Basal Ganglia, and Facial Dysmorphism (C564241)
........Craniosynostosis, Philadelphia Type (C563368)
........Craniosynostosis, sagittal, with Dandy-Walker malformation and hydrocephalus (C536790)
........Craniosynostosis, Type 2 (C565753)
........Craniosynostosis-Mental Retardation Syndrome of Lin and Gettig (C565664)
........Craniotelencephalic dysplasia (C535597)
........Cutis Gyrata Syndrome of Beare And Stevenson (C565129)
........Fine-Lubinsky syndrome (C537933)
........FRONTONASAL DYSPLASIA 2 (OMIM:613451)
........Furlong syndrome (C538192)
........Genoa syndrome (C537684)
........Hordnes Engebretsen Knudtson syndrome (C536067)
........Hunter-McAlpine syndrome (C536072)
........Iida Kannari syndrome (C536284)
........Jackson-Weiss syndrome (C537559)
........Kleeblattschaedel syndrome (C536884)
........Lowry Maclean syndrome (C537037)
........Mehta Lewis Patton syndrome (C536147)
........Muenke Syndrome (C537369)
........Oculopalatoskeletal syndrome (C537738)
........Opitz trigonocephaly syndrome (C537418)
........Pfeiffer Tietze Welte syndrome (C537891)
........Piepkorn Karp Hickok syndrome (C535774)
........Plagiocephaly and X-linked mental retardation (C537512)
........Polycystic Kidney Disease, Potter Type I, with Microbrachycephaly, Hypertelorism, and Brachymelia (C564881)
........Scaphocephaly, Maxillary Retrusion, And Mental Retardation (C566511)
........Shprintzen Golberg craniosynostosis (C537328)
........Skeletal dysplasia, San Diego type (C536670)
........Spondyloepiphyseal Dysplasia With Coronal Craniosynostosis, Cataracts, Cleft Palate, And Mental Retardation (C566515)
........Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, and Abnormalities of the Hands and Feet (C564759)
........TRIGONOCEPHALY 1 (OMIM:190440)
........Trigonocephaly, Nonsyndromic (C562951)
........Warman Mulliken Hayward syndrome (C536684)
Sister Nodes:
..Antley-Bixler Syndrome Phenotype (D054882) 2
..Banki Syndrome (C566228)
..Coronal synostosis, syndactyly and jejunal atresia (C536445)
..Craniosynostoses (D003398) 64
..Der Kaloustian Mcintosh Silver syndrome (C538217)
..Humeroradial Multiple Synostosis Syndrome (C565509)
..Humeroradial Synostosis with Craniofacial Anomalies (C566888)
..Jorgenson Lenz syndrome (C536292)
..Mesomelia-synostoses syndrome (C537348)
..MULTIPLE SYNOSTOSES SYNDROME 1 (OMIM:186500)
..Multiple synostoses syndrome 2 (C537380)
..Multiple Synostoses Syndrome 3 (C567839)
..NOG-Related-Symphalangism Spectrum Disorder (C536943)
..Patella aplasia, coxa vara, tarsal synostosis (C536307)
..Prata Libéral Gonçalves syndrome (C538277)
..Radioulnar Synostosis (C562408)
..Radioulnar synostosis retinal pigment abnormalities (C536270)
..Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia (C565328)
..Radioulnar Synostosis, Radial Ray Abnormalities, and Severe Malformations in the Male (C564557)
..Radioulnar Synostosis, Unilateral, with Developmental Retardation and Hypotonia (C564856)
..Ramer Ladda syndrome (C535284)
..Spondylocarpotarsal synostosis (C535780)
..Symphalangism of Toes (C566101)
..Symphalangism with Multiple Anomalies of Hands and Feet (C566098)
..Syndactyly (D013576) 69
..Synostoses, tarsal, carpal, and digital (C538156)
..Synostosis of Talus and Calcaneus with Short Stature (C566089)
..Synostosis, Carpal, with Dysplastic Elbow Joints and Brachydactyly (C566090)
..Tsukahara Syndrome (C566376)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

2831

Name:

Craniosynostoses

Definition:

Premature closure of one or more CRANIAL SUTURES. It often results in plagiocephaly. Craniosynostoses that involve multiple sutures are sometimes associated with congenital syndromes such as ACROCEPHALOSYNDACTYLIA; and CRANIOFACIAL DYSOSTOSIS.

Alternative IDs:

OMIM:123100|OMIM:600775

ParentIDs:

MESH:D013580|MESH:D019465|MESH:D059041

TreeNumbers:

C05.116.099.370.894.232 |C05.660.207.240 |C05.660.207.707.249 |C05.660.906.364 |C16.131.621.207.240 |C16.131.621.207.707.249 |C16.131.621.906.364

Synonyms:

Slim Mappings:

Congenital abnormality|Musculoskeletal disease

Reference:

MedGen: D003398
MeSH: D003398
OMIM: 600775;

Genes: ERF; TWIST1;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0011326	Anterior plagiocephaly	HP:0040283
3	HP:0011755	Ectopic posterior pituitary	HP:0040283
4	HP:0005469	Flat occiput
5	HP:0002007	Frontal bossing
6	HP:0000316	Hypertelorism
7	HP:0004443	Lambdoidal craniosynostosis
8	HP:0000256	Macrocephaly	HP:0040283
9	HP:0000272	Malar flattening
10	HP:0011800	Midface retrusion
11	HP:0000609	Optic nerve hypoplasia	HP:0040283
12	HP:0011325	Pansynostosis	HP:0040283
13	HP:0011327	Posterior plagiocephaly
14	HP:0011220	Prominent forehead
15	HP:0000278	Retrognathia
16	HP:0003196	Short nose	HP:0040283

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_006494.3(ERF):c.1270C>T (p.Gln424Ter)	2077	ERF	Pathogenic	587777010	RCV000049340;	N	MedGen:C1833340,OMIM:600775	19	42752994	42752994	NM_006494.3:c.1270C>T	NP_006485.2:p.Gln424Ter	19:g.42752994G>A	OMIM Allelic Variant:611888.0005	C1833340 600775 Craniosynostosis 4
NM_006494.3(ERF):c.891_892delAG (p.Gly299Argfs)	2077	ERF	Pathogenic	587777007	RCV000049337;	N	MedGen:C1833340,OMIM:600775	19	42753372	42753373	NM_006494.3:c.891_892delAG	NP_006485.2:p.Gly299Argfs		OMIM Allelic Variant:611888.0002	C1833340 600775 Craniosynostosis 4
NM_006494.3(ERF):c.547C>T (p.Arg183Ter)	2077	ERF	Pathogenic	587777006	RCV000049336;	N	MedGen:C1833340,OMIM:600775	19	42753717	42753717	NM_006494.3:c.547C>T	NP_006485.2:p.Arg183Ter	19:g.42753717G>A	OMIM Allelic Variant:611888.0001	C1833340 600775 Craniosynostosis 4
NM_006494.3(ERF):c.256C>T (p.Arg86Cys)	2077	ERF	Pathogenic	587777008	RCV000049338;	N	MedGen:C1833340,OMIM:600775	19	42754484	42754484	NM_006494.3:c.256C>T	NP_006485.2:p.Arg86Cys	19:g.42754484G>A	OMIM Allelic Variant:611888.0003	C1833340 600775 Craniosynostosis 4
NM_006494.3(ERF):c.194G>A (p.Arg65Gln)	2077	ERF	Pathogenic	587777009	RCV000049339;	N	MedGen:C1833340,OMIM:600775	19	42754546	42754546	NM_006494.3:c.194G>A	NP_006485.2:p.Arg65Gln	19:g.42754546C>T	OMIM Allelic Variant:611888.0004	C1833340 600775 Craniosynostosis 4
NM_006494.3(ERF):c.23_257del235	2077	ERF	Pathogenic	864321680	RCV000203301;	N	MedGen:C1833340,OMIM:600775	19	42754719	42754719	NM_006494.3:c.23_257del235		NC_000019.9:g.42754719T>C	OMIM Allelic Variant:611888.0007	C1833340 600775 Craniosynostosis 4
NM_006494.3(ERF):c.1A>G (p.Met1Val)	2077	ERF	Pathogenic	864321681	RCV000203306;	N	MedGen:C1833340,OMIM:600775	19	42759151	42759151	NM_006494.3:c.1A>G	NP_006485.2:p.Met1Val	NC_000019.9:g.42759151T>C	OMIM Allelic Variant:611888.0006	C1833340 600775 Craniosynostosis 4