KFS1
MCID: KLP007
MIFTS: 26

Klippel-Feil Syndrome 1, Autosomal Dominant (KFS1)

Categories: Genetic diseases, Rare diseases, Ear diseases

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 57 75 29 13 6
Kfs1 57 75
Klippel-Feil Syndrome, Type 1, Autosomal Dominant 40
Cervical Vertebral Fusion, Autosomal Dominant 57
Cervical Vertebral Fusion Autosomal Dominant 75
Klippel-Feil Syndrome, Autosomal Dominant 73
Cervical Vertebral Fusion Congenital 75
Fused Cervical Segments Congenital 75
Congenital Klippel-Feil Segment 75
Isolated Klippel-Feil Syndrome 75
Klippel-Feil Malformation 75
Klippel-Feil Sequence 75
Kfs 57

Characteristics:

OMIM:

57
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:

32
klippel-feil syndrome 1, autosomal dominant:
Onset and clinical course variable expressivity
Inheritance heterogeneous autosomal dominant inheritance


Classifications:



Summaries for Klippel-Feil Syndrome 1, Autosomal Dominant

UniProtKB/Swiss-Prot : 75 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 isolated klippel-feil syndrome and klippel-feil syndrome. An important gene associated with Klippel-Feil Syndrome 1, Autosomal Dominant is GDF6 (Growth Differentiation Factor 6). Affiliated tissues include bone and spinal cord, and related phenotypes are unilateral renal agenesis and cleft palate

OMIM : 57 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)

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 Top Affiliating Genes
1 isolated klippel-feil syndrome 12.3
2 klippel-feil syndrome 11.9
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:



Diseases related to Klippel-Feil Syndrome 1, Autosomal Dominant

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

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Neck:
short neck
limited neck range of motion

Head And Neck Mouth:
cleft palate

Chest Ribs Sternum Clavicles And Scapulae:
sprengel anomaly

Head And Neck Ears:
hearing loss, conductive
hearing loss, sensorineural

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

Skin Nails Hair Hair:
low posterior hairline

Head And Neck Face:
facial asymmetry


Clinical features from OMIM:

118100

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

32 (show all 19)
# Description HPO Frequency HPO Source Accession
1 unilateral renal agenesis 32 very rare (1%) HP:0000122
2 cleft palate 32 occasional (7.5%) HP:0000175
3 facial asymmetry 32 very rare (1%) HP:0000324
4 mixed hearing impairment 32 very rare (1%) HP:0000410
5 webbed neck 32 very rare (1%) HP:0000465
6 limited neck range of motion 32 hallmark (90%) HP:0000466
7 short neck 32 hallmark (90%) HP:0000470
8 abnormality of the ribs 32 occasional (7.5%) HP:0000772
9 sprengel anomaly 32 very rare (1%) HP:0000912
10 bimanual synkinesia 32 very rare (1%) HP:0001335
11 low posterior hairline 32 frequent (33%) HP:0002162
12 scoliosis 32 very rare (1%) HP:0002650
13 abnormality of limb bone morphology 32 occasional (7.5%) HP:0002813
14 cervical c2/c3 vertebral fusion 32 hallmark (90%) HP:0004602
15 abnormal vertebral segmentation and fusion 32 hallmark (90%) HP:0005640
16 congenital muscular torticollis 32 very rare (1%) HP:0005988
17 posterior fossa cyst 32 occasional (7.5%) HP:0007291
18 cervicomedullary schisis 32 HP:0030325
19 abnormality of cardiovascular system morphology 32 very rare (1%) HP:0030680

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

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

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 29 GDF6

Anatomical Context for Klippel-Feil Syndrome 1, Autosomal Dominant

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

41
Bone, Spinal Cord

Publications for Klippel-Feil Syndrome 1, Autosomal Dominant

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

# Title Authors Year
1
Multiple meningiomas of the cervical spinal cord associated with Klippel-Feil malformation and atlantooccipital assimilation. ( 6424048 )
1984

Variations for Klippel-Feil Syndrome 1, Autosomal Dominant

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

75
# 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
2 GDF6 NM_001001557.3(GDF6): c.125G> T (p.Gly42Val) single nucleotide variant Pathogenic rs121909354 GRCh38 Chromosome 8, 96160568: 96160568
3 GDF6 NM_001001557.3(GDF6): c.936G> C (p.Ser312=) single nucleotide variant Benign/Likely benign rs148861809 GRCh37 Chromosome 8, 97157223: 97157223
4 GDF6 NM_001001557.3(GDF6): c.936G> C (p.Ser312=) single nucleotide variant Benign/Likely benign rs148861809 GRCh38 Chromosome 8, 96144995: 96144995
5 GDF6 NM_001001557.3(GDF6): c.255G> T (p.Pro85=) single nucleotide variant Benign/Likely benign rs112296824 GRCh38 Chromosome 8, 96160438: 96160438
6 GDF6 NM_001001557.3(GDF6): c.255G> T (p.Pro85=) single nucleotide variant Benign/Likely benign rs112296824 GRCh37 Chromosome 8, 97172666: 97172666
7 GDF6 NM_001001557.3(GDF6): c.99_101delGTC (p.Ser34del) deletion Likely benign rs141468446 GRCh37 Chromosome 8, 97172820: 97172822
8 GDF6 NM_001001557.3(GDF6): c.99_101delGTC (p.Ser34del) deletion Likely benign rs141468446 GRCh38 Chromosome 8, 96160592: 96160594

Expression for Klippel-Feil Syndrome 1, Autosomal Dominant

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

Pathways for Klippel-Feil Syndrome 1, Autosomal Dominant

GO Terms for Klippel-Feil Syndrome 1, Autosomal Dominant

Sources for Klippel-Feil Syndrome 1, Autosomal Dominant

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