MCID: KLP006
MIFTS: 33

Klippel-Feil Syndrome 3, Autosomal Dominant malady

Genetic diseases, Bone diseases, Fetal diseases, Rare diseases categories
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Summaries for Klippel-Feil Syndrome 3, Autosomal Dominant

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MalaCards based summary: Klippel-Feil Syndrome 3, Autosomal Dominant, also known as congenital cervical vertebral fusion, is related to klippel-feil syndrome and kallmann syndrome, and has symptoms including facial structural asymmetry/facial hemiatrophy/facial hemihypertrophy, short neck and webbed neck/pterygium colli. An important gene associated with Klippel-Feil Syndrome 3, Autosomal Dominant is GDF3 (growth differentiation factor 3), and among its related pathways is TGF-beta Signaling Pathway. Affiliated tissues include bone and kidney, and related mouse phenotypes are craniofacial and adipose tissue.

Descriptions from OMIM:46 613702,118100,214300

Aliases & Classifications for Klippel-Feil Syndrome 3, Autosomal Dominant

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Sources:
46OMIM, 48Orphanet, 26ICD10 via Orphanet
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Klippel-Feil Syndrome 3, Autosomal Dominant, Aliases & Descriptions:

Name: Klippel-Feil Syndrome 3, 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


Classifications:

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


External Ids:

ICD10 via Orphanet26 Q76.1

Related Diseases for Klippel-Feil Syndrome 3, Autosomal Dominant

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Diseases in the Klippel-Feil Syndrome 3, Autosomal Dominant family:

Klippel-Feil Syndrome 2, Autosomal Recessive Klippel-Feil Syndrome 1, Autosomal Dominant

Diseases related to Klippel-Feil Syndrome 3, Autosomal Dominant via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1klippel-feil syndrome29.8MEOX1, GDF6, GDF3
2kallmann syndrome10.3
3frontonasal dysplasia10.3
4microphthalmia10.2GDF6
5coloboma10.1GDF6

Graphical network of diseases related to Klippel-Feil Syndrome 3, Autosomal Dominant:



Diseases related to klippel-feil syndrome 3, autosomal dominant

Symptoms for Klippel-Feil Syndrome 3, Autosomal Dominant

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Clinical features from OMIM:

613702,118100,214300

Symptoms:

48 (show all 25)
  • facial structural asymmetry/facial hemiatrophy/facial hemihypertrophy
  • 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
  • scoliosis
  • scapula structural/position anomaly/congenital elevation/sprengel anomaly
  • cleft palate without cleft lip/submucosal cleft palate/bifid uvula
  • 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

HPO human phenotypes related to Klippel-Feil Syndrome 3, Autosomal Dominant:

(show all 25)
id Description Frequency HPO Source Accession
1 facial asymmetry hallmark (90%) HP:0000324
2 webbed neck hallmark (90%) HP:0000465
3 short neck hallmark (90%) HP:0000470
4 low posterior hairline hallmark (90%) HP:0002162
5 vertebral segmentation defect hallmark (90%) HP:0003422
6 hearing impairment typical (50%) HP:0000365
7 abnormality of the ribs typical (50%) HP:0000772
8 sprengel anomaly typical (50%) HP:0000912
9 scoliosis typical (50%) HP:0002650
10 abnormality of the shoulder typical (50%) HP:0003043
11 congenital muscular torticollis typical (50%) HP:0005988
12 cleft palate occasional (7.5%) HP:0000175
13 abnormality of the cranial nerves occasional (7.5%) HP:0001291
14 ventricular septal defect occasional (7.5%) HP:0001629
15 spina bifida occasional (7.5%) HP:0002414
16 hemiplegia/hemiparesis occasional (7.5%) HP:0004374
17 ectopic anus occasional (7.5%) HP:0004397
18 abnormality of the sacrum occasional (7.5%) HP:0005107
19 renal hypoplasia/aplasia occasional (7.5%) HP:0008678
20 cognitive impairment occasional (7.5%) HP:0100543
21 urogenital fistula occasional (7.5%) HP:0100589
22 autosomal dominant inheritance HP:0000006
23 scoliosis HP:0002650
24 cervical vertebrae fusion (c5/c6) HP:0004635
25 irido-fundal coloboma HP:0007748

Drugs & Therapeutics for Klippel-Feil Syndrome 3, Autosomal Dominant

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Drug clinical trials:

Search ClinicalTrials for Klippel-Feil Syndrome 3, Autosomal Dominant

Search NIH Clinical Center for Klippel-Feil Syndrome 3, Autosomal Dominant

Genetic Tests for Klippel-Feil Syndrome 3, Autosomal Dominant

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Anatomical Context for Klippel-Feil Syndrome 3, Autosomal Dominant

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MalaCards organs/tissues related to Klippel-Feil Syndrome 3, Autosomal Dominant:

32
Bone, Kidney

Animal Models for Klippel-Feil Syndrome 3, Autosomal Dominant or affiliated genes

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MGI Mouse Phenotypes related to Klippel-Feil Syndrome 3, Autosomal Dominant:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053829.1MEOX1, GDF6
2MP:00053759.0MEOX1, GDF3
3MP:00053718.8MEOX1, GDF6
4MP:00053788.6MEOX1, GDF6, GDF3
5MP:00107688.4GDF3, GDF6, MEOX1

Publications for Klippel-Feil Syndrome 3, Autosomal Dominant

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Variations for Klippel-Feil Syndrome 3, Autosomal Dominant

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UniProtKB/Swiss-Prot genetic disease variations for Klippel-Feil Syndrome 3, Autosomal Dominant:

64
id Symbol AA change Variation ID SNP ID
1GDF3p.Arg266CysVAR_065148rs140926412

Clinvar genetic disease variations for Klippel-Feil Syndrome 3, Autosomal Dominant:

6
id Gene Name Type Significance SNP ID Assembly Location
1GDF3NM_020634.1(GDF3): c.796C> T (p.Arg266Cys)single nucleotide variantPathogenicrs140926412GRCh37Chr 12, 7842773: 7842773
2MEOX1MEOX1, 1-BP DEL, 94GdeletionPathogenic
3MEOX1MEOX1, ARG222TERsingle nucleotide variantPathogenic
4GDF6NM_001001557.2(GDF6): c.866T> C (p.Leu289Pro)single nucleotide variantPathogenicrs63751220GRCh37Chr 8, 97157293: 97157293
5GDF6NM_001001557.2(GDF6): c.1271A> G (p.Lys424Arg)single nucleotide variantPathogenicrs121909353GRCh37Chr 8, 97156888: 97156888
6GDF6NM_001001557.2(GDF6): c.125G> T (p.Gly42Val)single nucleotide variantPathogenicrs121909354GRCh37Chr 8, 97172796: 97172796

Expression for genes affiliated with Klippel-Feil Syndrome 3, Autosomal Dominant

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Expression patterns in normal tissues for genes affiliated with Klippel-Feil Syndrome 3, Autosomal Dominant

Search GEO for disease gene expression data for Klippel-Feil Syndrome 3, Autosomal Dominant.

Pathways for genes affiliated with Klippel-Feil Syndrome 3, Autosomal Dominant

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Pathways related to Klippel-Feil Syndrome 3, 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 3, Autosomal Dominant

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GO Terms for genes affiliated with Klippel-Feil Syndrome 3, Autosomal Dominant

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Cellular components related to Klippel-Feil Syndrome 3, Autosomal Dominant according to GeneCards/GeneDecks:

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

Biological processes related to Klippel-Feil Syndrome 3, Autosomal Dominant according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1growthGO:0400079.3GDF6, GDF3

Molecular functions related to Klippel-Feil Syndrome 3, 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 3, Autosomal Dominant

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  • Antibodies
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Sources for Klippel-Feil Syndrome 3, 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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet