MCID: KLP007
MIFTS: 24

Klippel-Feil Syndrome 1, Autosomal Dominant malady

Bone, Fetal categories

Summaries for Klippel-Feil Syndrome 1, Autosomal Dominant

Sources:
47OMIM, 33MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
MalaCards: Klippel-Feil Syndrome 1, Autosomal Dominant, also known as congenital cervical vertebral fusion, is related to klippel-feil syndrome and kallmann syndrome, and has symptoms including short neck, autosomal recessive inheritance and scoliosis. An important gene associated with Klippel-Feil Syndrome 1, Autosomal Dominant is GDF6 (growth differentiation factor 6), and among its related pathways is TGF-beta Signaling Pathway. Related mouse phenotypes are adipose tissue and growth/size.

Description from OMIM:47 118100,214300,613702

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

Sources:
49Orphanet, 47OMIM, 26ICD10 via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal
Anatomical: Bone


Characteristics (Orphanet epidemiological data):

49
congenital cervical vertebral fusion:
Inheritance: Autosomal dominant,Autosomal recessive,Sporadic; Prevalence: 1-9/100000; Age of onset: Neonatal/infancy; Age of death: Normal


Aliases & Descriptions:

klippel-feil syndrome 1, autosomal dominant 47
congenital cervical vertebral fusion 49
congenital fused cervical segments 49
isolated klippel-feil syndrome 49
klippel-feil malformation 49
klippel-feil sequence 49


External Ids:

ICD10 via Orphanet26 Q76.1

Related Diseases for Klippel-Feil Syndrome 1, Autosomal Dominant

Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases in the Klippel-Feil Syndrome 1, Autosomal Dominant family:

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/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1klippel-feil syndrome30.5GDF3, GDF6, MEOX1
2kallmann syndrome10.3
3frontonasal dysplasia10.3
4microphthalmia10.0GDF6
5coloboma10.0GDF6
6microphthalmia with coloboma 610.0GDF3

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



Diseases related to klippel-feil syndrome 1, autosomal dominant

Clinical Features for Klippel-Feil Syndrome 1, Autosomal Dominant

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

118100,214300,613702

Clinical synopsis from OMIM:

118100

Symptoms:

49 (show all 25)
  • short neck
  • autosomal recessive inheritance
  • scoliosis
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • hemiplegia/diplegia/hemiparesia/limb palsy
  • autosomal dominant inheritance
  • hearing loss/hypoacusia/deafness
  • cleft palate without cleft lip/submucosal cleft palate/bifid uvula
  • anomalies of the ribs
  • congenital cardiac anomaly/malformation/cardiopathy
  • low hair line (back)
  • webbed neck/pterygium colli
  • scapula structural/position anomaly/congenital elevation/sprengel anomaly
  • agenesis/hypoplasia/aplasia of kidneys
  • facial structural asymmetry/facial hemiatrophy/facial hemihypertrophy
  • vertebral segmentation anomaly/hemivertebrae
  • imperforate anus/rectum atresia/agenesis/recto-vaginal/vesical/perineal fistula
  • ventricular septal defect/interventricular communication
  • spina bifida
  • narrow/sloping shoulders
  • anomalies of spine, vertebrae and pelvis
  • anus ectopia/anteposition/malposition
  • sacro-coccyx/sacrum anomaly
  • congenital torticolli
  • cranial nerve anomalies

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

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
See all sources

Approved drugs:

Search CenterWatch for Klippel-Feil Syndrome 1, Autosomal Dominant

Drug clinical trials:

Search ClinicalTrials for Klippel-Feil Syndrome 1, Autosomal Dominant

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

Search CenterWatch 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

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Klippel-Feil Syndrome 1, Autosomal Dominant:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053759.1GDF3, MEOX1
2MP:00053788.2GDF3, GDF6, MEOX1

Publications for Klippel-Feil Syndrome 1, Autosomal Dominant

Genetic Variations for Klippel-Feil Syndrome 1, Autosomal Dominant

Sources:
63UniProtKB/Swiss-Prot
See all sources

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

63
id Symbol AA change Variation SNP ID
1GDF6p.Ala249GluVAR_046903
2GDF6p.Leu289ProVAR_046904
3GDF6p.Gly42ValVAR_063024rs121909354
4GDF6p.Lys424ArgVAR_063029rs121909353

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

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Klippel-Feil Syndrome 1, Autosomal Dominant

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

Sources:
56SinoBiological
See all sources

Pathways related to Klippel-Feil Syndrome 1, Autosomal Dominant according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.0GDF3, GDF6

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

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

Sources:
16Gene Ontology
See all sources

Biological processes related to Klippel-Feil Syndrome 1, Autosomal Dominant according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1growthGO:0400079.0GDF3, GDF6

Molecular functions related to Klippel-Feil Syndrome 1, Autosomal Dominant according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cytokine activityGO:0051259.0GDF3, GDF6
2growth factor activityGO:0080838.7GDF3, GDF6

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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Klippel-Feil Syndrome 1, Autosomal Dominant

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet