KFS1
MCID: KLP007
MIFTS: 26

Klippel-Feil Syndrome 1, Autosomal Dominant (KFS1) malady

Categories: Genetic diseases, Rare diseases, Ear diseases

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

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Aliases & Descriptions for Klippel-Feil Syndrome 1, Autosomal Dominant:

Name: Klippel-Feil Syndrome 1, Autosomal Dominant 52 70 27 12
Cervical Vertebral Fusion Autosomal Dominant 70
Klippel-Feil Syndrome, Autosomal Dominant 68
Cervical Vertebral Fusion Congenital 70
Fused Cervical Segments Congenital 70
 
Congenital Klippel-Feil Segment 70
Isolated Klippel-Feil Syndrome 70
Klippel-Feil Malformation 70
Klippel-Feil Sequence 70
Kfs1 70

Characteristics:

HPO:

64
klippel-feil syndrome 1, autosomal dominant:
Inheritance: autosomal dominant inheritance, heterogeneous
Onset and clinical course: variable expressivity

Classifications:



External Ids:

OMIM52 118100
MedGen37 C1861689
MeSH39 D007714

Summaries for Klippel-Feil Syndrome 1, Autosomal Dominant

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OMIM:52 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, also known as cervical vertebral fusion autosomal dominant, 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.

UniProtKB/Swiss-Prot:70 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.

Related Diseases for Klippel-Feil Syndrome 1, Autosomal Dominant

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Diseases in the Klippel-Feil Syndrome family:

klippel-feil syndrome 1, autosomal dominant Klippel-Feil Syndrome 3, Autosomal Dominant
Klippel-Feil Syndrome 2 Klippel-Feil Syndrome 1
Klippel-Feil Syndrome 3 Klippel-Feil Syndrome 4

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

idRelated DiseaseScoreTop Affiliating Genes
1klippel-feil syndrome11.2
2isolated klippel-feil syndrome11.2
3klippel-feil syndrome 3, autosomal dominant10.8
4klippel-feil syndrome 210.8
5klippel-feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism10.8
6kallmann syndrome9.9

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



Diseases related to klippel-feil syndrome 1, autosomal dominant

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

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Symptoms by clinical synopsis from OMIM:

118100

Clinical features from OMIM:

118100

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

 64 (show all 19)
id Description HPO Frequency HPO Source Accession
1 unilateral renal agenesis64 HP:0000122
2 cleft palate64 HP:0000175
3 facial asymmetry64 HP:0000324
4 mixed hearing impairment64 HP:0000410
5 webbed neck64 HP:0000465
6 limited neck range of motion64 HP:0000466
7 short neck64 HP:0000470
8 abnormality of the ribs64 HP:0000772
9 sprengel anomaly64 HP:0000912
10 bimanual synkinesia64 HP:0001335
11 low posterior hairline64 HP:0002162
12 scoliosis64 HP:0002650
13 abnormality of limb bone morphology64 HP:0002813
14 cervical c2/c3 vertebral fusion64 HP:0004602
15 abnormal vertebral segmentation and fusion64 HP:0005640
16 congenital muscular torticollis64 HP:0005988
17 posterior fossa cyst64 HP:0007291
18 cervicomedullary schisis64 HP:0030325
19 abnormality of cardiovascular system morphology64 HP:0030680

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

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at SanfordRecruitingNCT01793168

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

Genetic Tests for Klippel-Feil Syndrome 1, Autosomal Dominant

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

id Genetic test Affiliating Genes
1 Klippel-Feil Syndrome 1, Autosomal Dominant27

Anatomical Context for Klippel-Feil Syndrome 1, Autosomal Dominant

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

36
Bone

Publications for Klippel-Feil Syndrome 1, Autosomal Dominant

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Variations for Klippel-Feil Syndrome 1, Autosomal Dominant

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

70
id Symbol AA change Variation ID SNP ID
1GDF6p.Ala249GluVAR_046903rs121909352
2GDF6p.Leu289ProVAR_046904rs63751220
3GDF6p.Gly42ValVAR_063024rs121909354
4GDF6p.Lys424ArgVAR_063029rs121909353

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

5
id Gene Variation Type Significance SNP ID Assembly Location
1GDF6NM_ 001001557.3(GDF6): c.125G> T (p.Gly42Val)SNVPathogenicrs121909354GRCh37Chr 8, 97172796: 97172796

Expression for genes affiliated with Klippel-Feil Syndrome 1, Autosomal Dominant

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

Pathways for genes affiliated with Klippel-Feil Syndrome 1, Autosomal Dominant

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GO Terms for genes affiliated with Klippel-Feil Syndrome 1, Autosomal Dominant

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Sources for Klippel-Feil Syndrome 1, Autosomal Dominant

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet