MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation portal

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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

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

Disease Browser
Parent Node: Craniosynostoses (D003398)
Parent Node: Tooth Abnormalities (D014071)
..Starting node ..CRANIOSYNOSTOSIS AND DENTAL ANOMALIES (OMIM:614188)
Child Nodes:
Sister Nodes:
..Ackerman syndrome (C538170)
..Anodontia (D000848) 29
..AREDYLD Syndrome (C537427)
..Blepharo-cheilo-dontic syndrome (C536188)
..Book Syndrome (C562993)
..Carabelli Anomaly of Maxillary Molar Teeth (C566175)
..Cleidocranial Dysplasia, Forme Fruste, Dental Anomalies Only (C563974)
..CODAS syndrome (C536434)
..CRANIOSYNOSTOSIS AND DENTAL ANOMALIES (OMIM:614188)
..Deafness, Congenital, and Onychodystrophy, Autosomal Dominant (C567274)
..Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia (C565195)
..Dens in Dente (D003719) 1
..Dental Enamel Hypoplasia (D003744) 29
..Dentin Dysplasia (D003805) 3
..Dentinogenesis Imperfecta (D003811) 7
..Dermoodontodysplasia (C565103)
..Diastema (D003970) 1
..Euhidrotic ectodermal dysplasia (C535763)
..Facial Dysmorphism, Selective Tooth Agenesis, and Choroid Calcification (C567039)
..Faciocardiomelic Dysplasia, Lethal (C565578)
..Fused Teeth (D005671)
..Grubben de Cock Borghgraef syndrome (C537621)
..Hypoglossia-Hypodactylia (C566308)
..Iridogoniodysgenesis, dominant type (C535536)
..Kallmann Syndrome 2 with Selective Tooth Agenesis (C566948)
..KBG syndrome (C537015)
..Lacrimoauriculodentodigital syndrome (C538132)
..Larsen syndrome, dominant type (C537873)
..Nance-Horan syndrome (C538336)
..Oculodentodigital Dysplasia (C563160)
..Oculodentodigital Dysplasia, Autosomal Recessive (C567605)
..Oculotrichodysplasia (C564934)
..Odontodysplasia (D018126) 3
..Odontomicronychial dysplasia (C537741)
..Odontotrichoungual-Digital-Palmar Syndrome (C566598)
..Oroacral Syndrome, Verloes-Koulischer Type (C566374)
..Otodental Dysplasia (C563482)
..Polydactyly, Postaxial, with Dental and Vertebral Anomalies (C564880)
..Rodrigues blindness (C535865)
..Spondyloepimetaphyseal Dysplasia With Abnormal Dentition (C566644)
..Taurodontism (C536946)
..Taurodontism, microdontia, and dens invaginatus (C536947)
..Teeth noneruption of with maxillary hypoplasia and genu valgum (C536952)
..Teeth, Odd Shapes Of (C566076)
..Temtamy preaxial brachydactyly syndrome (C536958)
..TOOTH AGENESIS, SELECTIVE, 7 (OMIM:616724)
..TOOTH AGENESIS, SELECTIVE, 8 (OMIM:617073)
..TOOTH AGENESIS, SELECTIVE, 9 (OMIM:617275)
..Tooth, Supernumerary (D014096) 3
..Tricho-dento-osseous syndrome 1 (C536550)
..TRICHODENTOOSSEOUS SYNDROME (OMIM:190320)
..Weyers acrofacial dysostosis (C536695)
..Zazam Sheriff Phillips syndrome (C536723)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:

3144

Name:

CRANIOSYNOSTOSIS AND DENTAL ANOMALIES

Definition:

Alternative IDs:

ParentIDs:

MESH:D003398|MESH:D014071

TreeNumbers:

C05.116.099.370.894.232/614188 |C05.660.207.240/614188 |C05.660.906.364/614188 |C07.650.800/614188 |C07.793.700/614188 |C16.131.621.207.240/614188 |C16.131.621.906.364/614188 |C16.131.850.800/614188

Synonyms:

CRSDA |KREIBORG-PAKISTANI SYNDROME

Slim Mappings:

Congenital abnormality|Mouth disease|Musculoskeletal disease

Reference:

MedGen: 614188
MeSH: 614188
OMIM: 614188;
MSeqDR :
Genes: IL11RA;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0004691	2-3 toe syndactyly	HP:0040283
3	HP:0000248	Brachycephaly	HP:0040283
4	HP:0030084	Clinodactyly	HP:0040283
5	HP:0004440	Coronal craniosynostosis
6	HP:0001363	Craniosynostosis
7	HP:0000684	Delayed eruption of teeth
8	HP:0100798	Fingernail dysplasia	HP:0040283
9	HP:0001822	Hallux valgus	HP:0040283
10	HP:0000316	Hypertelorism	HP:0040283
11	HP:0000327	Hypoplasia of the maxilla
12	HP:0011069	Increased number of teeth	HP:0040283
13	HP:0004443	Lambdoidal craniosynostosis	HP:0040283
14	HP:0001085	Papilledema
15	HP:0004442	Sagittal craniosynostosis
16	HP:0030799	Scaphocephaly	HP:0040283
17	HP:0009803	Short phalanx of finger	HP:0040283
18	HP:0000243	Trigonocephaly	HP:0040283
19	HP:0000262	Turricephaly	HP:0040283

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
NM_001142784.3(IL11RA):c.281G>T (p.Cys94Phe)	3590	IL11RA	Likely pathogenic	369630361	RCV001263206;	N	MONDO:MONDO:0013615,MedGen:C3280073,OMIM:614188, Orphanet:284149	9	34656855	34656855	9:g.34656855G>T	-
NM_001142784.3(IL11RA):c.331+2T>C	3590	IL11RA	Uncertain significance	1554710108	RCV000625861;	N	MONDO:MONDO:0013615,MedGen:C3280073,OMIM:614188, Orphanet:284149	9	34656907	34656907	NC_000009.11:g.34656907T>C	ClinGen:CA373287361	C3280073 614188 Craniosynostosis and dental anomalies;
NM_001142784.3(IL11RA):c.475C>T (p.Gln159Ter)	3590	IL11RA	Pathogenic	387906787	RCV000023050;	N	MONDO:MONDO:0013615,MedGen:C3280073,OMIM:614188, Orphanet:284149	9	34657328	34657328	9:g.34657328C>T	ClinGen:CA128971,OMIM:600939.0004	C3280073 614188 Craniosynostosis and dental anomalies;
NM_001142784.3(IL11RA):c.662C>G (p.Pro221Arg)	3590	IL11RA	Likely pathogenic	387906785	RCV000023048;	N	MONDO:MONDO:0013615,MedGen:C3280073,OMIM:614188, Orphanet:284149	9	34658532	34658532	9:g.34658532C>G	ClinGen:CA128969,UniProtKB:Q14626#VAR_066666,OMIM:600939.0002	C3280073 614188 Craniosynostosis and dental anomalies;
NM_001142784.3(IL11RA):c.734C>G (p.Ser245Cys)	3590	IL11RA	Pathogenic	387906786	RCV000023049;	N	MONDO:MONDO:0013615,MedGen:C3280073,OMIM:614188, Orphanet:284149	9	34658604	34658604	9:g.34658604C>G	ClinGen:CA128970,UniProtKB:Q14626#VAR_066667,OMIM:600939.0003	C3280073 614188 Craniosynostosis and dental anomalies;
NM_001142784.3(IL11RA):c.781C>T (p.Arg261Cys)	3590	IL11RA	Likely pathogenic	201638429	RCV001263205;	N	MONDO:MONDO:0013615,MedGen:C3280073,OMIM:614188, Orphanet:284149	9	34658651	34658651	9:g.34658651C>T	-
NM_001142784.3(IL11RA):c.810G>A (p.Thr270=)	3590	IL11RA	Likely pathogenic	1258408605	RCV001726518;	N	MONDO:MONDO:0013615,MedGen:C3280073,OMIM:614188, Orphanet:284149	9	34658680	34658680	34658680	-
NM_001142784.3(IL11RA):c.886C>T (p.Arg296Trp)	3590	IL11RA	Pathogenic	387906784	RCV000023047;	N	MONDO:MONDO:0013615,MedGen:C3280073,OMIM:614188, Orphanet:284149	9	34659831	34659831	9:g.34659831C>T	ClinGen:CA128968,UniProtKB:Q14626#VAR_066668,OMIM:600939.0001	C3280073 614188 Craniosynostosis and dental anomalies;
NM_001142784.3(IL11RA):c.907ACCTGGAGC[3] (p.Ser308_Pro309insThrTrpSer)	3590	IL11RA	Pathogenic	-1	RCV000023051\|RCV002513179;	N	MONDO:MONDO:0013615,MedGen:C3280073,OMIM:614188, Orphanet:284149\|MedGen:CN517202	9	34659849	34659850	34659849	OMIM:600939.0005

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