Klippel-Feil Syndrome 1, Autosomal Dominant disease: Malacards - Research Articles, Symptoms, Drugs, Genes, Clinical Trials

Summaries for Klippel-Feil Syndrome 1, Autosomal Dominant

Sources:
⁴⁶OMIM, ³²MalaCards
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OMIM:⁴⁶ Klippel-Feil syndrome (KFS) is a congenital anomaly characterized by a defect in the formation or segmentation of the... (118100) more...

MalaCards based summary: Klippel-Feil Syndrome 1, Autosomal Dominant and has symptoms including limited neck range of motion, short neck and cervical vertebral fusion (c2/c3). An important gene associated with Klippel-Feil Syndrome 1, Autosomal Dominant is GDF6 (growth differentiation factor 6).

Aliases & Classifications for Klippel-Feil Syndrome 1, Autosomal Dominant

Sources:
⁴⁶OMIM
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Klippel-Feil Syndrome 1, Autosomal Dominant, Aliases & Descriptions:

Name: Klippel-Feil Syndrome 1, Autosomal Dominant ⁴⁶

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Ear diseases, Bone diseases

Related Diseases for Klippel-Feil Syndrome 1, Autosomal Dominant

Diseases in the Klippel-Feil Syndrome family:

Klippel-Feil Syndrome 2, Autosomal Recessive	klippel-feil syndrome 1, autosomal dominant
Klippel-Feil Syndrome 3, Autosomal Dominant	Klippel-Feil Syndrome 2

Symptoms for Klippel-Feil Syndrome 1, Autosomal Dominant

Sources:
⁴⁶OMIM, ⁵⁸The Human Phenotype Ontology
See all sources

Symptoms by clinical synopsis from OMIM:

118100

Clinical features from OMIM:

118100

HPO human phenotypes related to Klippel-Feil Syndrome 1, Autosomal Dominant:

(show all 22)

id	Description	Frequency	HPO Source Accession
1	limited neck range of motion	hallmark (90%)	HP:0000466
2	short neck	hallmark (90%)	HP:0000470
3	cervical vertebral fusion (c2/c3)	hallmark (90%)	HP:0004602
4	abnormal vertebral segmentation and fusion	hallmark (90%)	HP:0005640
5	low posterior hairline	typical (50%)	HP:0002162
6	scoliosis	30%	HP:0002650
7	sprengel anomaly	21%	HP:0000912
8	malformation of the heart and great vessels	21%	HP:0002564
9	facial asymmetry	20%	HP:0000324
10	webbed neck	20%	HP:0000465
11	congenital muscular torticollis	20%	HP:0005988
12	bimanual synkinesia	9%	HP:0001335
13	sensorineural hearing impairment	8%	HP:0000407
14	abnormality of the ribs	occasional (7.5%)	HP:0000772
15	abnormality of limb bone morphology	occasional (7.5%)	HP:0002813
16	posterior fossa cyst	occasional (7.5%)	HP:0007291
17	unilateral renal agenesis	7%	HP:0000122
18	cleft palate	rare (5%)	HP:0000175
19	mixed hearing impairment	rare (5%)	HP:0000410
20	autosomal dominant inheritance		HP:0000006
21	heterogeneous		HP:0001425
22	variable expressivity		HP:0003828

Drugs & Therapeutics for Klippel-Feil Syndrome 1, Autosomal Dominant

Sources:
⁴¹NIH Clinical Center, ⁶ClinicalTrials
See all sources

Drug clinical trials:

Search ClinicalTrials for Klippel-Feil Syndrome 1, Autosomal Dominant

Search NIH Clinical Center for Klippel-Feil Syndrome 1, Autosomal Dominant

Genetic Tests for Klippel-Feil Syndrome 1, Autosomal Dominant

Anatomical Context for Klippel-Feil Syndrome 1, Autosomal Dominant

Animal Models for Klippel-Feil Syndrome 1, Autosomal Dominant or affiliated genes

Publications for Klippel-Feil Syndrome 1, Autosomal Dominant

Genes related to Klippel-Feil Syndrome 1, Autosomal Dominant

Sources:
¹⁸GeneCards, ¹antibodies-online, ⁴⁵Novus Biologicals, ⁴⁶OMIM, ⁷Clinvar, ⁶³UniProtKB/Swiss-Prot
See all sources

Genes related to Klippel-Feil Syndrome 1, Autosomal Dominant:

- Elite gene

id	Symbol	Products	Description	Score	Implication
1	GDF6		growth differentiation factor 6	32.19	Molecular basis known ⁴⁶ Pathogenic ⁷ Causative variation ⁶³ GeneCards inferred via : Disorders (show sections)

Products for genes related to Klippel-Feil Syndrome 1, Autosomal Dominant disease:

id	Company	Proteins	Lysates	Antibodies	Kits and Assays
1	Antibodies-online	1	-	1	1
2	Novus Biologicals	1	1	1	-

Variations for Klippel-Feil Syndrome 1, Autosomal Dominant

Sources:
⁶³UniProtKB/Swiss-Prot, ⁷Clinvar, ⁸dbSNP
See all sources

UniProtKB/Swiss-Prot genetic disease variations for Klippel-Feil Syndrome 1, Autosomal Dominant:

⁶³

id	Symbol	AA change	Variation ID	SNP ID
1	GDF6	p.Ala249Glu	VAR_046903
2	GDF6	p.Leu289Pro	VAR_046904
3	GDF6	p.Gly42Val	VAR_063024	rs121909354
4	GDF6	p.Lys424Arg	VAR_063029	rs121909353

Clinvar genetic disease variations for Klippel-Feil Syndrome 1, Autosomal Dominant:

⁷

id	Gene	Name	Type	Significance	SNP ID	Assembly	Location
1	GDF6	NM_001001557.2(GDF6): c.746C> A (p.Ala249Glu)	single nucleotide variant	Pathogenic	rs121909352	GRCh37	Chr 8, 97157413: 97157413
2	GDF6	NM_001001557.2(GDF6): c.866T> C (p.Leu289Pro)	single nucleotide variant	Pathogenic	rs63751220	GRCh37	Chr 8, 97157293: 97157293
3	GDF6	NM_001001557.2(GDF6): c.1271A> G (p.Lys424Arg)	single nucleotide variant	Pathogenic	rs121909353	GRCh37	Chr 8, 97156888: 97156888
4	GDF6	NM_001001557.2(GDF6): c.125G> T (p.Gly42Val)	single nucleotide variant	Pathogenic	rs121909354	GRCh37	Chr 8, 97172796: 97172796