Klippel-Feil Syndrome 3, Autosomal Dominant disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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

MalaCards integrated aliases for Klippel-Feil Syndrome 3, Autosomal Dominant:

Name: Klippel-Feil Syndrome 3, Autosomal Dominant ⁵⁷ ⁷³ ²⁸ ¹² ⁵ ⁷¹

Kfs3 ⁵⁷ ⁷³

Klippel-Feil Syndrome, Type 3, Autosomal Dominant ³⁸

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Bone diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM® ⁵⁷ 613702

OMIM Phenotypic Series ⁵⁷ PS118100

MeSH ⁴³ D007714

MedGen ⁴⁰ C3150967

SNOMED-CT via HPO ⁶⁹ 39302008

UMLS ⁷¹ C3150967

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Summaries for Klippel-Feil Syndrome 3, Autosomal Dominant

OMIM®: ⁵⁷ Klippel-Feil syndrome is a congenital anomaly characterized by a defect in the formation or segmentation of the cervical vertebrae, resulting in a fused appearance. The clinical triad consists of short neck, low posterior hairline, and limited neck movement, although less than 50% of patients demonstrate all 3 clinical features (Tracy et al., 2004). For a general description and a discussion of genetic heterogeneity of Klippel-Feil syndrome, see KFS1 (118100). (613702) (Updated 08-Dec-2022)

MalaCards based summary: Klippel-Feil Syndrome 3, Autosomal Dominant, is also known as kfs3. An important gene associated with Klippel-Feil Syndrome 3, Autosomal Dominant is GDF3 (Growth Differentiation Factor 3). Affiliated tissues include bone, and related phenotypes are iris coloboma and chorioretinal coloboma

UniProtKB/Swiss-Prot: ⁷³ A skeletal disorder characterized by congenital fusion of cervical vertebrae. It is due to a failure in the normal segmentation of vertebrae during the early weeks of fetal development. The clinical triad consists of short neck, low posterior hairline, and limited neck movement.

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Related Diseases for Klippel-Feil Syndrome 3, Autosomal Dominant

Diseases in the Klippel-Feil Syndrome family:

Klippel-Feil Syndrome 1, Autosomal Dominant	Klippel-Feil Syndrome 2, Autosomal Recessive
Klippel-Feil Syndrome 3, Autosomal Dominant	Klippel-Feil Syndrome 1
Klippel-Feil Syndrome 3	Klippel-Feil Syndrome 4

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Symptoms & Phenotypes for Klippel-Feil Syndrome 3, Autosomal Dominant

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

³⁰

#	Description	HPO Source Accession
1	iris coloboma ³⁰	HP:0000612
2	chorioretinal coloboma ³⁰	HP:0000567
3	thoracic scoliosis ³⁰	HP:0002943
4	cervical c5/c6 vertebrae fusion ³⁰	HP:0004635
5	cervical c3/c4 vertebral fusion ³⁰	HP:0030281

Clinical features from OMIM®:

613702 (Updated 08-Dec-2022)

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

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

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Genetic Tests for Klippel-Feil Syndrome 3, Autosomal Dominant

Genetic tests related to Klippel-Feil Syndrome 3, Autosomal Dominant:

#	Genetic test	Affiliating Genes
1	Klippel-Feil Syndrome 3, Autosomal Dominant ²⁸	GDF3

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Anatomical Context for Klippel-Feil Syndrome 3, Autosomal Dominant

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

MalaCards : Bone

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Publications for Klippel-Feil Syndrome 3, Autosomal Dominant

Articles related to Klippel-Feil Syndrome 3, Autosomal Dominant:

#	Title	Authors	PMID	Year
1	Mutation of the bone morphogenetic protein GDF3 causes ocular and skeletal anomalies. ⁵⁷ ⁵	Ye M...Lehmann OJ	19864492	2010
2	Klippel-Feil syndrome: clinical features and current understanding of etiology. ⁵⁷	Tracy MR...Kusumi K	15241163	2004
3	Identification of prevalent potyvirus on maize and johnsongrass in corn fields of Tehran province of Iran and a study on some of its properties. ⁶²	Mohammadi MR...Hajieghrari B	17390895	2006

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Genes for Klippel-Feil Syndrome 3, Autosomal Dominant

Genes related to Klippel-Feil Syndrome 3, Autosomal Dominant (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	GDF3	Growth Differentiation Factor 3	Protein Coding	933.26	Molecular basis known ⁵⁷ Causative variation ⁷³ Genetic Tests ²⁸ Likely pathogenic ⁵ GeneCards inferred via : Disorders (show sections)	19864492

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Variations for Klippel-Feil Syndrome 3, Autosomal Dominant

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

⁵ (show all 15)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	GDF3	NM_020634.3(GDF3):c.796C>T (p.Arg266Cys)	SNV	Likely Pathogenic	30591	rs140926412	GRCh37: 12:7842773-7842773 GRCh38: 12:7690177-7690177
2	GDF3	NM_020634.3(GDF3):c.161T>C (p.Ile54Thr)	SNV	Uncertain Significance	642837	rs910081119	GRCh37: 12:7848164-7848164 GRCh38: 12:7695568-7695568
3	GDF3	NM_020634.3(GDF3):c.709A>G (p.Thr237Ala)	SNV	Uncertain Significance	538877	rs934067367	GRCh37: 12:7842860-7842860 GRCh38: 12:7690264-7690264
4	GDF3	NM_020634.3(GDF3):c.910T>C (p.Ser304Pro)	SNV	Uncertain Significance	657164	rs774437736	GRCh37: 12:7842659-7842659 GRCh38: 12:7690063-7690063
5	overlap with 46 genes	NC_000012.11:g.(?_6945914)_(9027627_?)dup	DUP	Uncertain Significance	1004385		GRCh37: 12:6945914-9027627 GRCh38:
6	GDF3	NM_020634.3(GDF3):c.751G>A (p.Ala251Thr)	SNV	Uncertain Significance	946377	rs764970795	GRCh37: 12:7842818-7842818 GRCh38: 12:7690222-7690222
7	GDF3	NM_020634.3(GDF3):c.186G>A (p.Ala62=)	SNV	Likely Benign	1081207		GRCh37: 12:7848139-7848139 GRCh38: 12:7695543-7695543
8	GDF3	NM_020634.3(GDF3):c.635C>T (p.Ser212Leu)	SNV	Likely Benign	717943	rs372790667	GRCh37: 12:7842934-7842934 GRCh38: 12:7690338-7690338
9	GDF3	NM_020634.3(GDF3):c.480C>T (p.Thr160=)	SNV	Likely Benign	772340	rs141133108	GRCh37: 12:7843089-7843089 GRCh38: 12:7690493-7690493
10	GDF3	NM_020634.3(GDF3):c.579C>T (p.Asn193=)	SNV	Benign	1562457		GRCh37: 12:7842990-7842990 GRCh38: 12:7690394-7690394
11	GDF3	NM_020634.3(GDF3):c.982G>C (p.Val328Leu)	SNV	Benign	471501	rs2302516	GRCh37: 12:7842587-7842587 GRCh38: 12:7689991-7689991
12	GDF3	NM_020634.3(GDF3):c.123C>G (p.Pro41=)	SNV	Benign	1165048		GRCh37: 12:7848202-7848202 GRCh38: 12:7695606-7695606
13	GDF3	NM_020634.3(GDF3):c.914T>C (p.Leu305Pro)	SNV	Benign	30592	rs387906945	GRCh37: 12:7842655-7842655 GRCh38: 12:7690059-7690059
14	GDF3	NM_020634.3(GDF3):c.637G>A (p.Gly213Arg)	SNV	Benign	1164810		GRCh37: 12:7842932-7842932 GRCh38: 12:7690336-7690336
15	GDF3	NM_020634.3(GDF3):c.583C>T (p.Arg195Trp)	SNV	Benign	767184	rs112895783	GRCh37: 12:7842986-7842986 GRCh38: 12:7690390-7690390

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

⁷³

#	Symbol	AA change	Variation ID	SNP ID
1	GDF3	p.Arg266Cys	VAR_065148	rs140926412

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Expression for Klippel-Feil Syndrome 3, Autosomal Dominant

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

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Pathways for Klippel-Feil Syndrome 3, Autosomal Dominant

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GO Terms for Klippel-Feil Syndrome 3, Autosomal Dominant

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⁷⁵ Wikipedia

KFS3 MCID: KLP006 MIFTS: 19	Klippel-Feil Syndrome 3, Autosomal Dominant (KFS3) Categories: Bone diseases, Genetic diseases, Rare diseases	Data Licensing For inquiries, contact: [email protected]
Genes Variations Tissues Publications Symptoms & Phenotypes Expand all tables

Klippel-Feil Syndrome 3, Autosomal Dominant (KFS3)

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

MalaCards integrated aliases for Klippel-Feil Syndrome 3, Autosomal Dominant:

Classifications:

External Ids:

Summaries for Klippel-Feil Syndrome 3, Autosomal Dominant

Related Diseases for Klippel-Feil Syndrome 3, Autosomal Dominant

Diseases in the Klippel-Feil Syndrome family:

Symptoms & Phenotypes for Klippel-Feil Syndrome 3, Autosomal Dominant

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

Clinical features from OMIM®:

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

Genetic Tests for Klippel-Feil Syndrome 3, Autosomal Dominant

Genetic tests related to Klippel-Feil Syndrome 3, Autosomal Dominant:

Anatomical Context for Klippel-Feil Syndrome 3, Autosomal Dominant

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

Publications for Klippel-Feil Syndrome 3, Autosomal Dominant

Articles related to Klippel-Feil Syndrome 3, Autosomal Dominant:

Genes for Klippel-Feil Syndrome 3, Autosomal Dominant

Genes related to Klippel-Feil Syndrome 3, Autosomal Dominant (1 elite genes):

Variations for Klippel-Feil Syndrome 3, Autosomal Dominant

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

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

Expression for Klippel-Feil Syndrome 3, Autosomal Dominant

Pathways for Klippel-Feil Syndrome 3, Autosomal Dominant

GO Terms for Klippel-Feil Syndrome 3, Autosomal Dominant

Sources for Klippel-Feil Syndrome 3, Autosomal Dominant