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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: Klippel-Feil Syndrome (D007714)
..Starting node ..Klippel Feil syndrome dominant type (C536887)
Child Nodes:
........KLIPPEL-FEIL SYNDROME 3, AUTOSOMAL DOMINANT (OMIM:613702)
Sister Nodes:
..Calabro syndrome (C537960)
..Klippel Feil syndrome dominant type (C536887) 1
..Klippel Feil syndrome recessive type (C536888)
..Segmentation syndrome 1 (C537538)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

6114

Name:

Klippel Feil syndrome dominant type

Definition:

Alternative IDs:

OMIM:118100

ParentIDs:

MESH:D007714

TreeNumbers:

C05.116.099.370.535/C536887 |C05.660.551/C536887 |C16.131.621.551/C536887

Synonyms:

Cervical vertebral fusion, autosomal dominant |KFS |KFS1 |KLIPPEL-FEIL SYNDROME 1, AUTOSOMAL DOMINANT |Klippel-Feil syndrome, autosomal dominant

Slim Mappings:

Congenital abnormality|Musculoskeletal disease

Reference:

MedGen: C536887
MeSH: C536887
OMIM: 118100;

Genes: GDF6;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0005640	Abnormal vertebral segmentation and fusion	HP:0040281
3	HP:0030680	Abnormality of cardiovascular system morphology	HP:0040284
4	HP:0002813	Abnormality of limb bone morphology	HP:0040283
5	HP:0000772	Abnormality of the ribs	HP:0040283
6	HP:0001335	Bimanual synkinesia	HP:0040284
7	HP:0004602	Cervical C2/C3 vertebral fusion	HP:0040281
8	HP:0030325	Cervicomedullary schisis
9	HP:0000175	Cleft palate	HP:0040283
10	HP:0005988	Congenital muscular torticollis	HP:0040284
11	HP:0000324	Facial asymmetry	HP:0040284
12	HP:0001425	Heterogeneous
13	HP:0000466	Limited neck range of motion	HP:0040281
14	HP:0002162	Low posterior hairline	HP:0040282
15	HP:0000410	Mixed hearing impairment	HP:0040284
16	HP:0007291	Posterior fossa cyst	HP:0040283
17	HP:0002650	Scoliosis	HP:0040284
18	HP:0000470	Short neck	HP:0040281
19	HP:0000912	Sprengel anomaly	HP:0040284
20	HP:0000122	Unilateral renal agenesis	HP:0040284
21	HP:0003828	Variable expressivity
22	HP:0000465	Webbed neck	HP:0040284

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_001001557.2(GDF6):c.1271A>G (p.Lys424Arg)	392255	GDF6	Pathogenic	121909353	RCV000008879;	N	MedGen:C1861689,OMIM:118100	8	97156888	97156888	NM_001001557.2:c.1271A>G	NP_001001557.1:p.Lys424Arg	NC_000008.10:g.97156888T>C	OMIM Allelic Variant:601147.0003	C1861689 118100 Klippel-Feil syndrome 1, autosomal dominant
NM_001001557.2(GDF6):c.866T>C (p.Leu289Pro)	392255	GDF6	Pathogenic	63751220	RCV000008878;	N	MedGen:C1861689,OMIM:118100	8	97157293	97157293	NM_001001557.2:c.866T>C	NP_001001557.1:p.Leu289Pro	NC_000008.10:g.97157293A>G	OMIM Allelic Variant:601147.0002	C1861689 118100 Klippel-Feil syndrome 1, autosomal dominant
NM_001001557.2(GDF6):c.746C>A (p.Ala249Glu)	392255	GDF6	Pathogenic	121909352	RCV000008876; RCV000008877; RCV000054424;	N	MedGen:C1861689,OMIM:118100; MedGen:C2751307,OMIM:613094; MedGen:C3715164,OMIM:615360	8	97157413	97157413	NM_001001557.2:c.746C>A	NP_001001557.1:p.Ala249Glu	NC_000008.10:g.97157413G>T	OMIM Allelic Variant:601147.0001	C1861689 118100 Klippel-Feil syndrome 1, autosomal dominant; C3715164 615360 Leber congenital amaurosis 17; C2751307 613094 Microphthalmia, isolated 4
NM_001001557.2(GDF6):c.125G>T (p.Gly42Val)	392255	GDF6	Pathogenic	121909354	RCV000008880;	N	MedGen:C1861689,OMIM:118100	8	97172796	97172796	NM_001001557.2:c.125G>T	NP_001001557.1:p.Gly42Val	NC_000008.10:g.97172796C>A	OMIM Allelic Variant:601147.0004	C1861689 118100 Klippel-Feil syndrome 1, autosomal dominant