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

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

Sources:
¹²diseasecard, ²⁷GTR, ³⁷MedGen, ³⁹MeSH, ⁵²OMIM, ⁶⁴The Human Phenotype Ontology, ⁶⁸UMLS, ⁷⁰UniProtKB/Swiss-Prot
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Aliases & Descriptions for Klippel-Feil Syndrome 1, Autosomal Dominant:

Name: Klippel-Feil Syndrome 1, Autosomal Dominant ⁵² ⁷⁰ ²⁷ ¹²

Cervical Vertebral Fusion Autosomal Dominant ⁷⁰

Klippel-Feil Syndrome, Autosomal Dominant ⁶⁸

Cervical Vertebral Fusion Congenital ⁷⁰

Fused Cervical Segments Congenital ⁷⁰

Congenital Klippel-Feil Segment ⁷⁰

Isolated Klippel-Feil Syndrome ⁷⁰

Klippel-Feil Malformation ⁷⁰

Klippel-Feil Sequence ⁷⁰

Kfs1 ⁷⁰

Characteristics:

HPO:

⁶⁴

klippel-feil syndrome 1, autosomal dominant:
Inheritance: autosomal dominant inheritance, heterogeneous
Onset and clinical course: variable expressivity

Classifications:

MalaCards categories:
Global: Genetic diseases, Rare diseases
Anatomical: Ear diseases

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External Ids:

OMIM⁵² 118100

MedGen³⁷ C1861689

MeSH³⁹ D007714

Summaries for Klippel-Feil Syndrome 1, Autosomal Dominant

Sources:
³⁶MalaCards, ⁵²OMIM, ⁷⁰UniProtKB/Swiss-Prot
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OMIM:⁵² Klippel-Feil syndrome (KFS) is a congenital anomaly characterized by a defect in the formation or segmentation of the... (118100) more...

MalaCards based summary: Klippel-Feil Syndrome 1, Autosomal Dominant, also known as cervical vertebral fusion autosomal dominant, is related to klippel-feil syndrome and isolated klippel-feil syndrome, and has symptoms including unilateral renal agenesis, cleft palate and facial asymmetry. An important gene associated with Klippel-Feil Syndrome 1, Autosomal Dominant is GDF6 (Growth Differentiation Factor 6). Affiliated tissues include bone.

UniProtKB/Swiss-Prot:⁷⁰ Klippel-Feil syndrome 1, autosomal dominant: 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. Deafness is a feature in some cases and may be of sensorineural, conductive, or mixed type.

Related Diseases for Klippel-Feil Syndrome 1, Autosomal Dominant

Sources:
²⁰GeneAnalytics, ²¹GeneCards
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Diseases in the Klippel-Feil Syndrome family:

klippel-feil syndrome 1, autosomal dominant	Klippel-Feil Syndrome 3, Autosomal Dominant
Klippel-Feil Syndrome 2	Klippel-Feil Syndrome 1
Klippel-Feil Syndrome 3	Klippel-Feil Syndrome 4

Diseases related to Klippel-Feil Syndrome 1, Autosomal Dominant via text searches within MalaCards or GeneCards Suite gene sharing:

id	Related Disease	Score
1	klippel-feil syndrome	11.2
2	isolated klippel-feil syndrome	11.2
3	klippel-feil syndrome 3, autosomal dominant	10.8
4	klippel-feil syndrome 2	10.8
5	klippel-feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism	10.8
6	kallmann syndrome	9.9

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

Symptoms & Phenotypes for Klippel-Feil Syndrome 1, Autosomal Dominant

Sources:
⁵²OMIM, ⁶⁴The Human Phenotype Ontology
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Symptoms by clinical synopsis from OMIM:

118100

Clinical features from OMIM:

118100

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

⁶⁴ (show all 19)

id	Description	HPO Source Accession
1	unilateral renal agenesis⁶⁴	HP:0000122
2	cleft palate⁶⁴	HP:0000175
3	facial asymmetry⁶⁴	HP:0000324
4	mixed hearing impairment⁶⁴	HP:0000410
5	webbed neck⁶⁴	HP:0000465
6	limited neck range of motion⁶⁴	HP:0000466
7	short neck⁶⁴	HP:0000470
8	abnormality of the ribs⁶⁴	HP:0000772
9	sprengel anomaly⁶⁴	HP:0000912
10	bimanual synkinesia⁶⁴	HP:0001335
11	low posterior hairline⁶⁴	HP:0002162
12	scoliosis⁶⁴	HP:0002650
13	abnormality of limb bone morphology⁶⁴	HP:0002813
14	cervical c2/c3 vertebral fusion⁶⁴	HP:0004602
15	abnormal vertebral segmentation and fusion⁶⁴	HP:0005640
16	congenital muscular torticollis⁶⁴	HP:0005988
17	posterior fossa cyst⁶⁴	HP:0007291
18	cervicomedullary schisis⁶⁴	HP:0030325
19	abnormality of cardiovascular system morphology⁶⁴	HP:0030680

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

Sources:
⁴ClinicalTrials
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Interventional clinical trials:

id	Name	Status	NCT ID	Phase
1	Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford	Recruiting	NCT01793168

Search NIH Clinical Center for Klippel-Feil Syndrome 1, Autosomal Dominant

Genetic Tests for Klippel-Feil Syndrome 1, Autosomal Dominant

Sources:
²⁷GTR
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Genetic tests related to Klippel-Feil Syndrome 1, Autosomal Dominant:

id	Genetic test	Affiliating Genes
1	Klippel-Feil Syndrome 1, Autosomal Dominant²⁷

Anatomical Context for Klippel-Feil Syndrome 1, Autosomal Dominant

Sources:
³⁶MalaCards
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MalaCards organs/tissues related to Klippel-Feil Syndrome 1, Autosomal Dominant:

³⁶

Bone

Publications for Klippel-Feil Syndrome 1, Autosomal Dominant

Genes related to Klippel-Feil Syndrome 1, Autosomal Dominant

Sources:
⁵Clinvar, ²¹GeneCards, ⁵²OMIM, ⁷⁰UniProtKB/Swiss-Prot
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Genes related to Klippel-Feil Syndrome 1, Autosomal Dominant (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

id	Symbol	Description	Score	Implication	PubmedIds
1	GDF6	Growth Differentiation Factor 6	1230.62	Molecular basis known ⁵² Pathogenic ⁵ Causative variation ⁷⁰ GeneCards inferred via : Disorders, Variants (show sections)	18425797, 19129173, 23307924