MCID: KLP007
MIFTS: 34

Klippel-Feil Syndrome 1, Autosomal Dominant malady

Genetic diseases, Bone diseases, Fetal diseases, Rare diseases categories

Summaries for Klippel-Feil Syndrome 1, Autosomal Dominant

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48OMIM, 34MalaCards
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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 vertebral segmentation anomaly/hemivertebrae, imperforate anus/rectum atresia/agenesis/recto-vaginal/vesical/perineal fistula and ventricular septal defect/interventricular communication. 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 craniofacial.

Description from OMIM:48 118100,214300,613702

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

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50Orphanet, 48OMIM, 27ICD10 via Orphanet, 60SNOMED-CT via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

50
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 48
congenital cervical vertebral fusion 50
congenital fused cervical segments 50
isolated klippel-feil syndrome 50
klippel-feil malformation 50
klippel-feil sequence 50


External Ids:

ICD10 via Orphanet27 Q76.1
SNOMED-CT via Orphanet60 5601008

Related Diseases for Klippel-Feil Syndrome 1, Autosomal Dominant

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18GeneCards, 19GeneDecks
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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 syndrome30.3MEOX1, GDF6, GDF3
2kallmann syndrome10.3
3frontonasal dysplasia10.3
4microphthalmia10.0GDF6
5coloboma10.0GDF6

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



Diseases related to klippel-feil syndrome 1, autosomal dominant

Symptoms for Klippel-Feil Syndrome 1, Autosomal Dominant

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48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

118100

Clinical features from OMIM:

118100,214300,613702

Symptoms:

50 (show all 25)
  • 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
  • facial structural asymmetry/facial hemiatrophy/facial hemihypertrophy
  • agenesis/hypoplasia/aplasia of kidneys
  • scapula structural/position anomaly/congenital elevation/sprengel anomaly
  • 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
  • short neck

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

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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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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34MalaCards
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MalaCards organs/tissues related to Klippel-Feil Syndrome 1, Autosomal Dominant:

34
Kidney, Bone

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

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38MGI
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MGI Mouse Phenotypes related to Klippel-Feil Syndrome 1, Autosomal Dominant:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053759.1GDF3, MEOX1
2MP:00053829.0GDF6, MEOX1
3MP:00053718.7MEOX1, GDF6
4MP:00053788.6MEOX1, GDF6, GDF3
5MP:00107688.4MEOX1, GDF3, GDF6

Publications for Klippel-Feil Syndrome 1, Autosomal Dominant

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Variations for Klippel-Feil Syndrome 1, Autosomal Dominant

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Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 8dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Klippel-Feil Syndrome 1, Autosomal Dominant:

65
id Symbol AA change Variation ID SNP ID
1GDF6p.Ala249GluVAR_046903
2GDF6p.Leu289ProVAR_046904
3GDF6p.Gly42ValVAR_063024rs121909354
4GDF6p.Lys424ArgVAR_063029rs121909353

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

1
id Gene Name Type Significance SNP ID Assembly Location
1GDF6NM_001001557.2(GDF6): c.746C> A (p.Ala249Glu)single nucleotide variantPathogenicrs121909352GRCh37Chr 8, 97157413: 97157413
2GDF6NM_001001557.2(GDF6): c.866T> C (p.Leu289Pro)single nucleotide variantPathogenicrs63751220GRCh37Chr 8, 97157293: 97157293
3GDF6NM_001001557.2(GDF6): c.1271A> G (p.Lys424Arg)single nucleotide variantPathogenicrs121909353GRCh37Chr 8, 97156888: 97156888
4GDF6NM_001001557.2(GDF6): c.125G> T (p.Gly42Val)single nucleotide variantPathogenicrs121909354GRCh37Chr 8, 97172796: 97172796

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

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2BioGPS, 16Gene 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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51PathCards, 58SinoBiological
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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
19.3GDF6, GDF3

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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17Gene Ontology
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Cellular components related to Klippel-Feil Syndrome 1, Autosomal Dominant according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1extracellular spaceGO:0056159.3GDF6, GDF3

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

idNameGO IDScoreTop Affiliating Genes
1growthGO:0400079.3GDF6, GDF3

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

idNameGO IDScoreTop Affiliating Genes
1cytokine activityGO:0051259.3GDF6, GDF3
2growth factor activityGO:0080839.0GDF6, GDF3

Products 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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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet