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

Sources

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

MalaCards integrated aliases for Klippel-Feil Syndrome 1, Autosomal Dominant:

Name: Klippel-Feil Syndrome 1, Autosomal Dominant ⁵³ ⁷¹ ²⁸ ¹³

Kfs1 ⁵³ ⁷¹

Cervical Vertebral Fusion, Autosomal Dominant ⁵³

Cervical Vertebral Fusion Autosomal Dominant ⁷¹

Klippel-Feil Syndrome, Autosomal Dominant ⁶⁹

Cervical Vertebral Fusion Congenital ⁷¹

Fused Cervical Segments Congenital ⁷¹

Congenital Klippel-Feil Segment ⁷¹

Isolated Klippel-Feil Syndrome ⁷¹

Klippel-Feil Malformation ⁷¹

Klippel-Feil Sequence ⁷¹

Kfs ⁵³

Characteristics:

OMIM:

⁵³

Inheritance:
autosomal dominant

Miscellaneous:
variable severity
genetic heterogeneity (see )
klippel-feil anomaly may be a part of other syndromes, including murcs and sprengel deformity

HPO:

³¹

klippel-feil syndrome 1, autosomal dominant:
Onset and clinical course variable expressivity
Inheritance heterogeneous autosomal dominant inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Ear diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵³ 118100

MedGen ³⁹ C1861689

MeSH ⁴¹ D007714

SNOMED-CT via HPO ⁶⁵ 263681008 55726006 63567004 more

UMLS ⁶⁹ C1861689

Sources

Summaries for Klippel-Feil Syndrome 1, Autosomal Dominant

UniProtKB/Swiss-Prot : ⁷¹ Klippel-Feil syndrome 1, autosomal dominant: A skeletal disorder characterized by congenital fusion of cervical vertebrae. It is due to a failure in the normal segmentation of vertebrae during the early weeks of fetal development. The clinical triad consists of short neck, low posterior hairline, and limited neck movement. Deafness is a feature in some cases and may be of sensorineural, conductive, or mixed type.

MalaCards based summary : Klippel-Feil Syndrome 1, Autosomal Dominant, also known as kfs1, is related to klippel-feil syndrome and isolated klippel-feil syndrome, and has symptoms including unilateral renal agenesis, cleft palate and facial asymmetry. An important gene associated with Klippel-Feil Syndrome 1, Autosomal Dominant is GDF6 (Growth Differentiation Factor 6). Affiliated tissues include bone.

OMIM : ⁵³ Klippel-Feil syndrome (KFS) is a congenital anomaly characterized by a defect in the formation or segmentation of the cervical vertebrae, resulting in a fused appearance. The clinical triad consists of short neck, low posterior hairline, and limited neck movement, although less than 50% of patients demonstrate all 3 clinical features (Tracy et al., 2004). (118100)

Sources

Related Diseases for Klippel-Feil Syndrome 1, Autosomal Dominant

Diseases in the Klippel-Feil Syndrome family:

Klippel-Feil Syndrome 1, Autosomal Dominant	Klippel-Feil Syndrome 2, Autosomal Recessive
Klippel-Feil Syndrome 3, Autosomal Dominant

Diseases related to Klippel-Feil Syndrome 1, Autosomal Dominant via text searches within MalaCards or GeneCards Suite gene sharing:

#	Related Disease	Score
1	klippel-feil syndrome	11.9
2	isolated klippel-feil syndrome	11.2
3	klippel-feil syndrome 2, autosomal recessive	10.9
4	klippel-feil syndrome 3, autosomal dominant	10.9
5	klippel-feil syndrome 4, autosomal recessive, with nemaline myopathy and facial dysmorphism	10.9

Graphical network of the top 20 diseases related to Klippel-Feil Syndrome 1, Autosomal Dominant:

Sources

Symptoms & Phenotypes for Klippel-Feil Syndrome 1, Autosomal Dominant

Symptoms via clinical synopsis from OMIM:

⁵³

HeadAndNeckNeck:
short neck
limited neck range of motion

HeadAndNeckMouth:
cleft palate

ChestRibsSternumClaviclesAndScapulae:
sprengel anomaly

HeadAndNeckEars:
hearing loss, conductive
hearing loss, sensorineural

SkeletalSpine:
scoliosis
fusion of cervical vertebrae, most often c2-3

SkinNailsHairHair:
low posterior hairline

HeadAndNeckFace:
facial asymmetry

Clinical features from OMIM:

118100

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

³¹ (show all 19)

#	Description	HPO Frequency	HPO Source Accession
1	unilateral renal agenesis ³¹	very rare (1%)	HP:0000122
2	cleft palate ³¹	occasional (7.5%)	HP:0000175
3	facial asymmetry ³¹	very rare (1%)	HP:0000324
4	mixed hearing impairment ³¹	very rare (1%)	HP:0000410
5	webbed neck ³¹	very rare (1%)	HP:0000465
6	limited neck range of motion ³¹	hallmark (90%)	HP:0000466
7	short neck ³¹	hallmark (90%)	HP:0000470
8	abnormality of the ribs ³¹	occasional (7.5%)	HP:0000772
9	sprengel anomaly ³¹	very rare (1%)	HP:0000912
10	bimanual synkinesia ³¹	very rare (1%)	HP:0001335
11	low posterior hairline ³¹	frequent (33%)	HP:0002162
12	scoliosis ³¹	very rare (1%)	HP:0002650
13	abnormality of limb bone morphology ³¹	occasional (7.5%)	HP:0002813
14	cervical c2/c3 vertebral fusion ³¹	hallmark (90%)	HP:0004602
15	abnormal vertebral segmentation and fusion ³¹	hallmark (90%)	HP:0005640
16	congenital muscular torticollis ³¹	very rare (1%)	HP:0005988
17	posterior fossa cyst ³¹	occasional (7.5%)	HP:0007291
18	cervicomedullary schisis ³¹		HP:0030325
19	abnormality of cardiovascular system morphology ³¹	very rare (1%)	HP:0030680

Sources

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

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

Sources

Genetic Tests for Klippel-Feil Syndrome 1, Autosomal Dominant

Genetic tests related to Klippel-Feil Syndrome 1, Autosomal Dominant:

#	Genetic test	Affiliating Genes
1	Klippel-Feil Syndrome 1, Autosomal Dominant ²⁸	GDF6

Sources

Anatomical Context for Klippel-Feil Syndrome 1, Autosomal Dominant

MalaCards organs/tissues related to Klippel-Feil Syndrome 1, Autosomal Dominant:

³⁸

Bone

Sources

Publications for Klippel-Feil Syndrome 1, Autosomal Dominant

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

#	Title	Authors	Year
1	Is there a relation between Klippel-Feil sequence and Kallmann syndrome? ( 7762597 )	Zlotogora J.	1995
2	Association of the Klippel-Feil sequence with frontonasal dysplasia sequence. ( 6641005 )	Ishikiriyama S....Niikawa N.	1983

Sources

Genes for Klippel-Feil Syndrome 1, Autosomal Dominant

Genes related to Klippel-Feil Syndrome 1, Autosomal Dominant (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Implication	PubmedIds
1	GDF6	Growth Differentiation Factor 6	Protein Coding	1330.15	Molecular basis known ⁵³ Pathogenic ⁶ Causative variation ⁷¹ Genetic Tests ²⁸ GeneCards inferred via : Disorders Variants (show sections)	19129173 20301552 18425797 (more) 23307924

Sources

Variations for Klippel-Feil Syndrome 1, Autosomal Dominant

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

⁷¹

#	Symbol	AA change	Variation ID	SNP ID
1	GDF6	p.Ala249Glu	VAR_046903	rs121909352
2	GDF6	p.Leu289Pro	VAR_046904	rs63751220
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:

⁶

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	GDF6	NM_001001557.3(GDF6): c.125G> T (p.Gly42Val)	single nucleotide variant	Pathogenic	rs121909354	GRCh37	Chromosome 8, 97172796: 97172796

Sources

Expression for Klippel-Feil Syndrome 1, Autosomal Dominant

Search GEO for disease gene expression data for Klippel-Feil Syndrome 1, Autosomal Dominant.

Sources

Pathways for Klippel-Feil Syndrome 1, Autosomal Dominant

Sources

GO Terms for Klippel-Feil Syndrome 1, Autosomal Dominant

Sources

Sources for Klippel-Feil Syndrome 1, Autosomal Dominant

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ ExPASy

¹⁷ FDA Approved Drugs

¹⁸ FMA

¹⁹ GeneAnalytics

²⁰ GeneCards

²¹ GeneGo (Thomson Reuters)

²² GeneHancer via GeneCards

²³ GeneReviews

²⁴ Genetics Home Reference

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HGMD

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ MalaCards

³⁹ MedGen

⁴⁰ MedlinePlus

⁴¹ MeSH

⁴² MESH via Orphanet

⁴³ MGI

⁴⁴ NCBI Bookshelf

⁴⁵ NCI

⁴⁶ NCIt

⁴⁷ NDF-RT

⁴⁸ NIH Clinical Center

⁴⁹ NIH Rare Diseases

⁵⁰ NINDS

⁵¹ Novoseek

⁵² Novus Biologicals

⁵³ OMIM

⁵⁴ OMIM via Orphanet

⁵⁵ Orphanet

⁵⁶ PathCards

⁵⁷ PharmGKB

⁵⁸ PubMed

⁵⁹ PubMed Health

⁶⁰ QIAGEN

⁶¹ R&D Systems

⁶² Reactome

⁶³ Sino Biological

⁶⁴ SNOMED-CT

⁶⁵ SNOMED-CT via HPO

⁶⁶ SNOMED-CT via Orphanet

⁶⁷ TGDB

⁶⁸ Tocris

⁶⁹ UMLS

⁷⁰ UMLS via Orphanet

⁷¹ UniProtKB/Swiss-Prot

⁷² Wikipedia