MCID: KLP007
MIFTS: 34

Klippel-Feil Syndrome 1, Autosomal Dominant malady

Bone diseases, Fetal diseases categories

Summaries for Klippel-Feil Syndrome 1, Autosomal Dominant

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46OMIM, 32MalaCards
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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 sacro-coccyx/sacrum anomaly, imperforate anus/rectum atresia/agenesis/recto-vaginal/vesical/perineal fistula and anus ectopia/anteposition/malposition. 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. Affiliated tissues include kidney and bone, and related mouse phenotypes are adipose tissue and growth/size.

Description from OMIM:46 118100,214300,613702

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

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46OMIM, 48Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

48
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 46
congenital cervical vertebral fusion 48
congenital fused cervical segments 48
isolated klippel-feil syndrome 48
klippel-feil malformation 48
klippel-feil sequence 48


External Ids:

ICD10 via Orphanet26 Q76.1
SNOMED-CT via Orphanet57 5601008

Related Diseases for Klippel-Feil Syndrome 1, Autosomal Dominant

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17GeneCards, 18GeneDecks
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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 syndrome10.2
3microphthalmia10.0GDF6
4coloboma10.0GDF6
5microphthalmia 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

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46OMIM, 48Orphanet
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Clinical features from OMIM:

118100,214300,613702

Clinical synopsis from OMIM:

118100

Symptoms:

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

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

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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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

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Anatomical Context for Klippel-Feil Syndrome 1, Autosomal Dominant

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32MalaCards
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MalaCards organs/tissues related to Klippel-Feil Syndrome 1, Autosomal Dominant:

32
Kidney, Bone

Animal Models for Klippel-Feil Syndrome 1, Autosomal Dominant or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Klippel-Feil Syndrome 1, Autosomal Dominant:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053759.1GDF3, MEOX1
2MP:00053788.2GDF3, GDF6, MEOX1

Publications for Klippel-Feil Syndrome 1, Autosomal Dominant

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Genetic Variations for Klippel-Feil Syndrome 1, Autosomal Dominant

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Sources:
62UniProtKB/Swiss-Prot
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Genetic disease variations for Klippel-Feil Syndrome 1, Autosomal Dominant:

62
id Symbol AA change Variation ID 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

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1BioGPS, 15Gene Expression Omnibus DataSets
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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

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55SinoBiological
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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

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

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16Gene Ontology
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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

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  • Antibodies
  • Proteins
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  • Antibodies

Sources for Klippel-Feil Syndrome 1, Autosomal Dominant

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet