Klippel-Feil Syndrome 1, Autosomal Dominant disease: Malacards - Research Articles, Symptoms, Drugs, Genes, Clinical Trials

Summaries for Klippel-Feil Syndrome 1, Autosomal Dominant

Sources:
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

Sources:
⁴⁸Orphanet, ⁴⁶OMIM, 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

ICD10: ²⁶

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations and deformations of the musculoskeletal system

Congenital malformations of spine and bony thorax

Klippel-Feil syndrome

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:

OMIM⁴⁶ 118100, 214300, 613702

ICD10 via Orphanet²⁶ Q76.1

SNOMED-CT via Orphanet⁵⁷ 5601008

Related Diseases for Klippel-Feil Syndrome 1, Autosomal Dominant

Sources:
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:

id	Related Disease	Score	Top Affiliating Genes
1	klippel-feil syndrome	30.5	GDF3, GDF6, MEOX1
2	kallmann syndrome	10.2
3	microphthalmia	10.0	GDF6
4	coloboma	10.0	GDF6
5	microphthalmia with coloboma 6	10.0	GDF3

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

Clinical Features for Klippel-Feil Syndrome 1, Autosomal Dominant

Sources:
⁴⁶OMIM, ⁴⁸Orphanet
See all sources

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

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

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Genetic Tests for Klippel-Feil Syndrome 1, Autosomal Dominant

Anatomical Context for Klippel-Feil Syndrome 1, Autosomal Dominant

Sources:
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

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

³⁶

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	adipose tissue phenotype	MP:0005375	9.1	GDF3, MEOX1
2	growth/size phenotype	MP:0005378	8.2	GDF3, GDF6, MEOX1

Publications for Klippel-Feil Syndrome 1, Autosomal Dominant

Genes related to Klippel-Feil Syndrome 1, Autosomal Dominant

Sources:
¹⁷GeneCards, ⁴⁵Novus Biologicals, ³¹LifeSpan BioSciences, Inc., ⁴⁶OMIM, ⁴⁸Orphanet, ⁶²UniProtKB/Swiss-Prot
See all sources

Genes related to Klippel-Feil Syndrome 1, Autosomal Dominant:

id	Symbol	Description	Score	Implication
1	GDF6	growth differentiation factor 6	23.98	Molecular basis known ⁴⁶ Causative germline mutation ⁴⁸ Causative variation ⁶² GeneCards inferred : Disorders (show sections)
2	GDF3	growth differentiation factor 3	13.33	Causative germline mutation ⁴⁸
3	MEOX1	mesenchyme homeobox 1	6.67	Causative germline mutation ⁴⁸

Products for genes related to Klippel-Feil Syndrome 1, Autosomal Dominant disease:

id	Company	Proteins	Lysates	Antibodies
1	Novus Biologicals	3	3	3
2	LSBio	-	-	3

Genetic Variations for Klippel-Feil Syndrome 1, Autosomal Dominant

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
1	GDF6	p.Ala249Glu	VAR_046903
2	GDF6	p.Leu289Pro	VAR_046904
3	GDF6	p.Gly42Val	VAR_063024	rs121909354
4	GDF6	p.Lys424Arg	VAR_063029	rs121909353

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

Sources:
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

Sources:
⁵⁵SinoBiological
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Pathways related to Klippel-Feil Syndrome 1, Autosomal Dominant according to GeneCards/GeneDecks:

id	Super pathways (with members indented)	Score	Top Affiliating Genes
1	TGF-beta Signaling Pathway⁵⁵	9.0	GDF3, 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
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Biological processes related to Klippel-Feil Syndrome 1, Autosomal Dominant according to GeneCards/GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	growth	GO:040007	9.0	GDF3, GDF6

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

id	Name	GO ID	Score	Top Affiliating Genes
1	cytokine activity	GO:005125	9.0	GDF3, GDF6
2	growth factor activity	GO:008083	8.7	GDF3, GDF6

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

Antibodies
Proteins
Lysates

Antibodies

Sources for Klippel-Feil Syndrome 1, Autosomal Dominant

¹BioGPS

²BitterDB

³CDC

⁴Cell Signaling Technology

⁵CenterWatch

⁶ClinicalTrials

⁷dbSNP

⁸Disease Ontology

⁹diseasecard

¹⁰DISEASES

¹¹DrugBank

¹²EMD Millipore

¹³ExPASy

¹⁴FMA

¹⁵Gene Expression Omnibus DataSets

¹⁶Gene Ontology

¹⁷GeneCards

¹⁸GeneDecks

¹⁹GeneReviews

²⁰GeneTests

²¹Genetics Home Reference

²²GTR

²³HGMD

²⁴HMDB

²⁵ICD10

²⁶ICD10 via Orphanet

²⁷ICD9CM

²⁸IUPHAR

²⁹KEGG

³⁰LifeMap Discovery™

³¹LifeSpan BioSciences, Inc.

³²MalaCards

³³MedlinePlus

³⁴MeSH

³⁵MESH via Orphanet

³⁶MGI

³⁷NCBI BioSystems Database

³⁸NCBI Bookshelf

³⁹NCIt

⁴⁰NDF-RT

⁴¹NIH Clinical Center

⁴²NIH Rare Diseases

⁴³NINDS

⁴⁴Novoseek

⁴⁵Novus Biologicals

⁴⁶OMIM

⁴⁷OMIM via Orphanet

⁴⁸Orphanet

⁴⁹PharmGKB

⁵⁰PubMed

⁵¹QIAGEN

⁵²R&D Systems

⁵³Reactome

⁵⁴SABiosciences

⁵⁵SinoBiological

⁵⁶SNOMED-CT

⁵⁷SNOMED-CT via Orphanet

⁵⁸Thomson Reuters

⁵⁹Tocris Bioscience

⁶⁰UMLS

⁶¹UMLS via Orphanet

⁶²UniProtKB/Swiss-Prot

⁶³Wikipedia

MCID: KLP007 MIFTS: 34	Klippel-Feil Syndrome 1, Autosomal Dominant malady Bone diseases, Fetal diseases categories
25 symptoms, 3 genes, 2 tissues, 5 related diseases, clinical trials.

Klippel-Feil Syndrome 1, Autosomal Dominant malady