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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: Arachnodactyly (D054119)
Parent Node: Contracture (D003286)
..Starting node ..Congenital contractural arachnodactyly (C536211)
Child Nodes:
Sister Nodes:
..Aase Smith syndrome (C535332)
..Alopecia contractures dwarfism mental retardation (C537051)
..Arthropathy, Erosive (C565273)
..Axial mesodermal dysplasia spectrum (C537790)
..Bethlem myopathy (C535436)
..Bone Fragility with Contractures, Arterial Rupture, and Deafness (C567320)
..Bowen syndrome (C538164)
..Camptodactyly joint contractures and facial skeletal dysplasia (C537969)
..Congenital contractural arachnodactyly (C536211)
..Congenital ectodermal dysplasia with hearing loss (C535757)
..Contractures, Congenital, Torticollis, and Malignant Hyperthermia (C565679)
..Davenport Donlan syndrome (C535988)
..Dupuytren Contracture (D004387) 2
..Dystonia with Ringbinden (C565608)
..Growth Deficiency and Mental Retardation with Facial Dysmorphism (C565358)
..Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, and Cerebellar Atrophy (C564264)
..Hip Contracture (D006616)
..Histiocytosis with joint contractures and sensorineural deafness (C538322)
..Iida Kannari syndrome (C536284)
..Inclusion Body Myopathy 3, Autosomal Dominant (C565311)
..Inclusion body myopathy, autosomal dominant (C538330)
..Ischemic Contracture (D054061)
..Lethal Congenital Contractural Syndrome 3 (C566961)
..Macleod Fraser syndrome (C537715)
..Marden Walker like syndrome (C535909)
..Marden-Walker syndrome (C535910)
..Mental retardation Mietens Weber type (C537444)
..Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, and Facial Dysmorphism (C565246)
..Multiple Pterygium Syndrome, X-Linked (C564072)
..Muscular dystrophy, tardive Emery-Dreifuss type, with contractures (C535734)
..Muscular dystrophy, tardive, Dreifuss-Emery type, with contractures (C538478)
..Rozin Hertz Goodman syndrome (C535876)
..Spastic Paraplegia 18, Autosomal Recessive (C567628)
..Spondylospinal Thoracic Dysostosis (C566622)
..Stiff Skin Syndrome (C566112)
..Tight skin contracture syndrome, lethal (C536920)
..Wieacker syndrome (C536703)
..Winchester syndrome (C536709)
..Winter Harding Hyde syndrome (C536712)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

2605

Name:

Congenital contractural arachnodactyly

Definition:

Alternative IDs:

OMIM:121050

ParentIDs:

MESH:D003286|MESH:D054119

TreeNumbers:

C05.550.323/C536211 |C05.651.197/C536211 |C05.660.585.174/C536211 |C16.131.621.585.174/C536211

Synonyms:

Slim Mappings:

Congenital abnormality|Musculoskeletal disease

Reference:

MedGen: C536211
MeSH: C536211
OMIM: 121050;

Genes: FBN2;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0001181	Adducted thumb
3	HP:0002616	Aortic root aneurysm
4	HP:0001166	Arachnodactyly
5	HP:0001631	Atrial septal defect
6	HP:0001647	Bicuspid aortic valve
7	HP:0000248	Brachycephaly
8	HP:0008962	Calf muscle hypoplasia
9	HP:0100490	Camptodactyly of finger
10	HP:0008453	Congenital kyphoscoliosis
11	HP:0009901	Crumpled ear	HP:0040284
12	HP:0001519	Disproportionate tall stature
13	HP:0005684	Distal arthrogryposis
14	HP:0000268	Dolichocephaly
15	HP:0001083	Ectopia lentis
16	HP:0002987	Elbow flexion contracture	HP:0040284
17	HP:0002007	Frontal bossing
18	HP:0000218	High palate
19	HP:0003273	Hip contracture	HP:0040284
20	HP:0006380	Knee flexion contracture	HP:0040284
21	HP:0002751	Kyphoscoliosis	HP:0040284
22	HP:0001840	Metatarsus adductus
23	HP:0000347	Micrognathia	HP:0040284
24	HP:0001653	Mitral regurgitation
25	HP:0001634	Mitral valve prolapse
26	HP:0001270	Motor delay
27	HP:0000545	Myopia
28	HP:0000938	Osteopenia
29	HP:0002999	Patellar dislocation
30	HP:0010499	Patellar subluxation
31	HP:0001643	Patent ductus arteriosus
32	HP:0000768	Pectus carinatum
33	HP:0030799	Scaphocephaly
34	HP:0000470	Short neck
35	HP:0001762	Talipes equinovarus	HP:0040284
36	HP:0009465	Ulnar deviation of finger
37	HP:0001629	Ventricular septal defect

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_001999.3(FBN2):c.5917+9T>G	2201	FBN2	Uncertain significance	371439173	RCV000205963;	N	MedGen:C0220668,OMIM:121050,ORPHA:115,SNOMED CT:205821003	5	127638656	127638656	NM_001999.3:c.5917+9T>G		NC_000005.9:g.127638656A>C	-	C0220668 121050 Congenital contractural arachnodactyly
NM_001999.3(FBN2):c.4647C>T (p.Asn1549=)	2201	FBN2	Benign;Likely benign	146662880	RCV000205287; RCV000125054;	N	MedGen:C0220668,OMIM:121050,ORPHA:115,SNOMED CT:205821003; MedGen:CN169374	5	127653911	127653911	NM_001999.3:c.4647C>T	NP_001990.2:p.Asn1549=	NC_000005.9:g.127653911G>A	-	C0220668 121050 Congenital contractural arachnodactyly; CN169374 not specified
NM_001999.3(FBN2):c.4346-2A>T	2201	FBN2	Pathogenic	587776518	RCV000000551;	N	MedGen:C0220668,OMIM:121050,ORPHA:115,SNOMED CT:205821003	5	127664515	127664515	NM_001999.3:c.4346-2A>T		5:g.127664515T>A	OMIM Allelic Variant:612570.0004	C0220668 121050 Congenital contractural arachnodactyly
NM_001999.3(FBN2):c.3777T>A (p.Asn1259Lys)	2201	FBN2	Pathogenic	267606802	RCV000000557;	N	MedGen:C0220668,OMIM:121050,ORPHA:115,SNOMED CT:205821003	5	127671217	127671217	NM_001999.3:c.3777T>A	NP_001990.2:p.Asn1259Lys	NC_000005.9:g.127671217A>T	OMIM Allelic Variant:612570.0010	C0220668 121050 Congenital contractural arachnodactyly
NM_001999.3(FBN2):c.3759T>G (p.Cys1253Trp)	2201	FBN2	Pathogenic	28931602	RCV000000556;	N	MedGen:C0220668,OMIM:121050,ORPHA:115,SNOMED CT:205821003	5	127671235	127671235	NM_001999.3:c.3759T>G	NP_001990.2:p.Cys1253Trp	NC_000005.9:g.127671235A>C	OMIM Allelic Variant:612570.0009	C0220668 121050 Congenital contractural arachnodactyly
NM_001999.3(FBN2):c.3758G>A (p.Cys1253Tyr)	2201	FBN2	Pathogenic	137852825	RCV000000548;	N	MedGen:C0220668,OMIM:121050,ORPHA:115,SNOMED CT:205821003	5	127671236	127671236	NM_001999.3:c.3758G>A	NP_001990.2:p.Cys1253Tyr	NC_000005.9:g.127671236C>T	OMIM Allelic Variant:612570.0001	C0220668 121050 Congenital contractural arachnodactyly
NM_001999.3(FBN2):c.3725-15A>G	2201	FBN2	Pathogenic	587776519	RCV000000552;	N	MedGen:C0220668,OMIM:121050,ORPHA:115,SNOMED CT:205821003	5	127671284	127671284	NM_001999.3:c.3725-15A>G		5:g.127671284T>C	OMIM Allelic Variant:612570.0005	C0220668 121050 Congenital contractural arachnodactyly
NM_001999.3(FBN2):c.3425G>T (p.Cys1142Phe)	2201	FBN2	Pathogenic	137852828	RCV000000555;	N	MedGen:C0220668,OMIM:121050,ORPHA:115,SNOMED CT:205821003	5	127674672	127674672	NM_001999.3:c.3425G>T	NP_001990.2:p.Cys1142Phe	NC_000005.9:g.127674672C>A	OMIM Allelic Variant:612570.0008	C0220668 121050 Congenital contractural arachnodactyly
NM_001999.3(FBN2):c.3344A>T (p.Asp1115Val)	2201	FBN2	Likely pathogenic	869025428	RCV000208190;	N	MedGen:C0220668,OMIM:121050,ORPHA:115,SNOMED CT:205821003	5	127674753	127674753	NM_001999.3:c.3344A>T	NP_001990.2:p.Asp1115Val	NC_000005.9:g.127674753T>A	-	C0220668 121050 Congenital contractural arachnodactyly
NM_001999.3(FBN2):c.3343G>C (p.Asp1115His)	2201	FBN2	Pathogenic	137852827	RCV000000554;	N	MedGen:C0220668,OMIM:121050,ORPHA:115,SNOMED CT:205821003	5	127680077	127680077	NM_001999.3:c.3343G>C	NP_001990.2:p.Asp1115His	NC_000005.9:g.127680077C>G	OMIM Allelic Variant:612570.0007	C0220668 121050 Congenital contractural arachnodactyly
NM_001999.3(FBN2):c.2480G>A (p.Arg827Gln)	2201	FBN2	Uncertain significance	150735582	RCV000206321; RCV000197430;	N	MedGen:C0220668,OMIM:121050,ORPHA:115,SNOMED CT:205821003; MedGen:CN169374	5	127697490	127697490	NM_001999.3:c.2480G>A	NP_001990.2:p.Arg827Gln	NC_000005.9:g.127697490C>T	-	C0220668 121050 Congenital contractural arachnodactyly; CN169374 not specified
NM_001999.3(FBN2):c.1171G>A (p.Glu391Lys)	2201	FBN2	Pathogenic	137852826	RCV000000549;	N	MedGen:C0220668,OMIM:121050,ORPHA:115,SNOMED CT:205821003	5	127730875	127730875	NM_001999.3:c.1171G>A	NP_001990.2:p.Glu391Lys	NC_000005.9:g.127730875C>T	OMIM Allelic Variant:612570.0002	C0220668 121050 Congenital contractural arachnodactyly
NM_001999.3(FBN2):c.1040G>A (p.Arg347His)	2201	FBN2	Benign;Likely benign	112428886	RCV000205887; RCV000195214;	N	MedGen:C0220668,OMIM:121050,ORPHA:115,SNOMED CT:205821003; MedGen:CN169374	5	127744405	127744405	NM_001999.3:c.1040G>A	NP_001990.2:p.Arg347His	NC_000005.9:g.127744405C>T	-	C0220668 121050 Congenital contractural arachnodactyly; CN169374 not specified
NM_001999.3(FBN2):c.829G>A (p.Val277Ile)	2201	FBN2	Likely benign;Uncertain significance	146849637	RCV000204651; RCV000195579;	N	MedGen:C0220668,OMIM:121050,ORPHA:115,SNOMED CT:205821003; MedGen:CN169374	5	127782297	127782297	NM_001999.3:c.829G>A	NP_001990.2:p.Val277Ile	NC_000005.9:g.127782297C>T	-	C0220668 121050 Congenital contractural arachnodactyly; CN169374 not specified