MCID: KLP007
MIFTS: 26
|
Klippel-Feil Syndrome 1, Autosomal Dominant
Categories:
Genetic diseases, Ear diseases, Rare diseases
|
|
MalaCards integrated aliases for Klippel-Feil Syndrome 1, Autosomal Dominant:
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: |
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) |
Diseases in the Klippel-Feil Syndrome family:
Diseases related to Klippel-Feil Syndrome 1, Autosomal Dominant via text searches within MalaCards or GeneCards Suite gene sharing:
Graphical network of the top 20 diseases related to Klippel-Feil Syndrome 1, Autosomal Dominant:![]() |
Symptoms via clinical synopsis from OMIM:53Clinical features from OMIM:118100Human phenotypes related to Klippel-Feil Syndrome 1, Autosomal Dominant:31 (show all 19)
|
|
MalaCards organs/tissues related to Klippel-Feil Syndrome 1, Autosomal Dominant:38
Bone
|
Articles related to Klippel-Feil Syndrome 1, Autosomal Dominant:
|
UniProtKB/Swiss-Prot genetic disease variations for Klippel-Feil Syndrome 1, Autosomal Dominant:71
ClinVar genetic disease variations for Klippel-Feil Syndrome 1, Autosomal Dominant:6
|
Search
GEO
for disease gene expression data for Klippel-Feil Syndrome 1, Autosomal Dominant.
|
|
|