MCID: KLP007
MIFTS: 10

Klippel-Feil Syndrome 1, Autosomal Dominant malady

Genetic diseases, Bone diseases, Fetal diseases, Rare diseases categories
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Summaries for Klippel-Feil Syndrome 1, Autosomal Dominant

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MalaCards based summary: Klippel-Feil Syndrome 1, Autosomal Dominant and has symptoms including An important gene associated with Klippel-Feil Syndrome 1, Autosomal Dominant is GDF6 (growth differentiation factor 6).

Description from OMIM:46 118100

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

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Klippel-Feil Syndrome 1, Autosomal Dominant, Aliases & Descriptions:

Name: Klippel-Feil Syndrome 1, Autosomal Dominant 46


Classifications:

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


Related Diseases for Klippel-Feil Syndrome 1, 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

Symptoms for Klippel-Feil Syndrome 1, Autosomal Dominant

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Symptoms by clinical synopsis from OMIM:

118100

Clinical features from OMIM:

118100

HPO human phenotypes related to Klippel-Feil Syndrome 1, Autosomal Dominant:

(show all 22)
id Description Frequency HPO Source Accession
1 limited neck range of motion hallmark (90%) HP:0000466
2 short neck hallmark (90%) HP:0000470
3 cervical vertebral fusion (c2/c3) hallmark (90%) HP:0004602
4 abnormal vertebral segmentation and fusion hallmark (90%) HP:0005640
5 low posterior hairline typical (50%) HP:0002162
6 scoliosis 30% HP:0002650
7 sprengel anomaly 21% HP:0000912
8 malformation of the heart and great vessels 21% HP:0002564
9 facial asymmetry 20% HP:0000324
10 webbed neck 20% HP:0000465
11 congenital muscular torticollis 20% HP:0005988
12 bimanual synkinesia 9% HP:0001335
13 sensorineural hearing impairment 8% HP:0000407
14 abnormality of the ribs occasional (7.5%) HP:0000772
15 abnormality of limb bone morphology occasional (7.5%) HP:0002813
16 posterior fossa cyst occasional (7.5%) HP:0007291
17 unilateral renal agenesis 7% HP:0000122
18 cleft palate rare (5%) HP:0000175
19 mixed hearing impairment rare (5%) HP:0000410
20 autosomal dominant inheritance HP:0000006
21 heterogeneous HP:0001425
22 variable expressivity HP:0003828

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

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Drug clinical trials:

Search ClinicalTrials for Klippel-Feil Syndrome 1, Autosomal Dominant

Search NIH Clinical Center 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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Animal Models for Klippel-Feil Syndrome 1, Autosomal Dominant or affiliated genes

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Publications for Klippel-Feil Syndrome 1, Autosomal Dominant

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Variations for Klippel-Feil Syndrome 1, Autosomal Dominant

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

64
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:

6
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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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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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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Products for genes affiliated with Klippel-Feil Syndrome 1, Autosomal Dominant

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  • Antibodies
  • Proteins
  • Lysates

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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet