Klippel-Feil Syndrome 2, Autosomal Recessive disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Klippel-Feil Syndrome 2, Autosomal Recessive

MalaCards integrated aliases for Klippel-Feil Syndrome 2, Autosomal Recessive:

Name: Klippel-Feil Syndrome 2, Autosomal Recessive ⁵⁸ ⁷⁶ ³⁰ ¹³ ⁶

Kfs2 ⁵⁸ ⁷⁶

Klippel-Feil Syndrome, Type 2, Autosomal Recessive ⁴¹

Cervical Vertebral Fusion, Autosomal Recessive ⁵⁸

Cervical Vertebral Fusion Autosomal Recessive ⁷⁶

Klippel Feil Syndrome Recessive Type ⁷⁴

Kfs, Autosomal Recessive ⁵⁸

Klippel-Feil Syndrome 2 ⁵⁸

Kfs Autosomal Recessive ⁷⁶

Characteristics:

OMIM:

⁵⁸

Inheritance:
autosomal recessive

Miscellaneous:
based on reports of one consanguineous saudi family and one consanguineous turkish family (last curated december 2014)

HPO:

³³

klippel-feil syndrome 2, autosomal recessive:
Inheritance autosomal recessive inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases
Anatomical: Neuronal diseases Bone diseases Ear diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁸ 214300

MeSH ⁴⁵ D007714

MedGen ⁴³ C1859209

SNOMED-CT via HPO ⁷⁰ 111266001 253255002 253549006 more

UMLS ⁷⁴ C1859209

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Summaries for Klippel-Feil Syndrome 2, Autosomal Recessive

OMIM : ⁵⁸ Klippel-Feil syndrome (KFS) 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). Clarke et al. (1998) proposed a classification system for KFS in which an autosomal recessive form is characterized by the most rostral fusion at C1 and the presence of severe associated anomalies, including short neck, cardiac defects, and craniofacial anomalies. For a general description and a discussion of genetic heterogeneity of Klippel-Feil syndrome, see KFS1 (118100). (214300)

MalaCards based summary : Klippel-Feil Syndrome 2, Autosomal Recessive, also known as kfs2, is related to klippel-feil syndrome and spinal disease. An important gene associated with Klippel-Feil Syndrome 2, Autosomal Recessive is MEOX1 (Mesenchyme Homeobox 1). Affiliated tissues include bone, and related phenotypes are short neck and scoliosis

UniProtKB/Swiss-Prot : ⁷⁶ Klippel-Feil syndrome 2, autosomal recessive: 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 2, Autosomal Recessive

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

Diseases related to Klippel-Feil Syndrome 2, Autosomal Recessive via text searches within MalaCards or GeneCards Suite gene sharing:

#	Related Disease	Score	Top Affiliating Genes
1	klippel-feil syndrome	9.6	MEOX1 RIPPLY2
2	spinal disease	9.5	MEOX1 RIPPLY2

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Symptoms & Phenotypes for Klippel-Feil Syndrome 2, Autosomal Recessive

Human phenotypes related to Klippel-Feil Syndrome 2, Autosomal Recessive:

³³ (show all 13)

#	Description	HPO Source Accession
1	short neck ³³	HP:0000470
2	scoliosis ³³	HP:0002650
3	sensorineural hearing impairment ³³	HP:0000407
4	cleft palate ³³	HP:0000175
5	low posterior hairline ³³	HP:0002162
6	sprengel anomaly ³³	HP:0000912
7	abnormality of the pinna ³³	HP:0000377
8	conductive hearing impairment ³³	HP:0000405
9	ventricular septal defect ³³	HP:0001629
10	cleft upper lip ³³	HP:0000204
11	fused cervical vertebrae ³³	HP:0002949
12	cervical c2/c3 vertebral fusion ³³	HP:0004602
13	limited neck range of motion ³³	HP:0000466

Symptoms via clinical synopsis from OMIM:

⁵⁸

Head And Neck Neck:
short neck
limited neck range of motion

Skin Nails Hair Hair:
low posterior hairline

Head And Neck Ears:
hearing loss, sensorineural (in one family)
hearing loss, conductive (in one family)
abnormally shaped ears (in one family)

Cardiovascular Heart:
ventriculoseptal defect (in one family)

Skeletal Spine:
scoliosis
fusion of cervical vertebrae

Chest Ribs Sternum Clavicles And Scapulae:
sprengel anomaly
elevated scapulae
omovertebral bone

Head And Neck Mouth:
cleft lip (in one family)
cleft palate (in one family)

Skeletal Skull:
anomalies of the foramen magnum

Clinical features from OMIM:

214300

MGI Mouse Phenotypes related to Klippel-Feil Syndrome 2, Autosomal Recessive:

⁴⁷

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	limbs/digits/tail	MP:0005371	8.96	MEOX1 RIPPLY2
2	muscle	MP:0005369	8.62	MEOX1 RIPPLY2

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Drugs & Therapeutics for Klippel-Feil Syndrome 2, Autosomal Recessive

Search Clinical Trials , NIH Clinical Center for Klippel-Feil Syndrome 2, Autosomal Recessive

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Genetic Tests for Klippel-Feil Syndrome 2, Autosomal Recessive

Genetic tests related to Klippel-Feil Syndrome 2, Autosomal Recessive:

#	Genetic test	Affiliating Genes
1	Klippel-Feil Syndrome 2, Autosomal Recessive ³⁰	MEOX1

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Anatomical Context for Klippel-Feil Syndrome 2, Autosomal Recessive

MalaCards organs/tissues related to Klippel-Feil Syndrome 2, Autosomal Recessive:

⁴²

Bone

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Publications for Klippel-Feil Syndrome 2, Autosomal Recessive

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Genes for Klippel-Feil Syndrome 2, Autosomal Recessive

Genes related to Klippel-Feil Syndrome 2, Autosomal Recessive (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	MEOX1	Mesenchyme Homeobox 1	Protein Coding	1028.01	Molecular basis known ⁵⁸ Pathogenic ⁶ Genetic Tests ³⁰ GeneCards inferred via : Disorders Variants (show sections)	24073994 23290072
2	RIPPLY2	Ripply Transcriptional Repressor 2	Protein Coding	18.02	GeneCards inferred via : Variants (show sections)

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Variations for Klippel-Feil Syndrome 2, Autosomal Recessive

ClinVar genetic disease variations for Klippel-Feil Syndrome 2, Autosomal Recessive:

⁶

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	MEOX1	NM_004527.3(MEOX1): c.250C> T (p.Gln84Ter)	single nucleotide variant	Pathogenic	rs713993044	GRCh37	Chromosome 17, 41738653: 41738653
2	MEOX1	NM_004527.3(MEOX1): c.250C> T (p.Gln84Ter)	single nucleotide variant	Pathogenic	rs713993044	GRCh38	Chromosome 17, 43661285: 43661285
3	RIPPLY2	NM_001009994.2(RIPPLY2): c.299delT (p.Leu100Argfs)	deletion	Likely pathogenic	rs864309489	GRCh37	Chromosome 6, 84567020: 84567020
4	RIPPLY2	NM_001009994.2(RIPPLY2): c.299delT (p.Leu100Argfs)	deletion	Likely pathogenic	rs864309489	GRCh38	Chromosome 6, 83857301: 83857301
5	MEOX1	NM_004527.3(MEOX1): c.94delG (p.Ala32Profs)	deletion	Pathogenic		GRCh37	Chromosome 17, 41738809: 41738809
6	MEOX1	NM_004527.3(MEOX1): c.94delG (p.Ala32Profs)	deletion	Pathogenic		GRCh38	Chromosome 17, 43661441: 43661441
7	MEOX1	NM_004527.3(MEOX1): c.664C> T (p.Arg222Ter)	single nucleotide variant	Pathogenic		GRCh37	Chromosome 17, 41719379: 41719379
8	MEOX1	NM_004527.3(MEOX1): c.664C> T (p.Arg222Ter)	single nucleotide variant	Pathogenic		GRCh38	Chromosome 17, 43642011: 43642011

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Expression for Klippel-Feil Syndrome 2, Autosomal Recessive

Search GEO for disease gene expression data for Klippel-Feil Syndrome 2, Autosomal Recessive.

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Pathways for Klippel-Feil Syndrome 2, Autosomal Recessive

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GO Terms for Klippel-Feil Syndrome 2, Autosomal Recessive

Biological processes related to Klippel-Feil Syndrome 2, Autosomal Recessive according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	multicellular organism development	GO:0007275	8.62	MEOX1 RIPPLY2

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⁷⁵ UMLS via Orphanet

⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ Wikipedia

Klippel-Feil Syndrome 2, Autosomal Recessive (KFS2)

Aliases & Classifications for Klippel-Feil Syndrome 2, Autosomal Recessive

MalaCards integrated aliases for Klippel-Feil Syndrome 2, Autosomal Recessive:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Klippel-Feil Syndrome 2, Autosomal Recessive

Related Diseases for Klippel-Feil Syndrome 2, Autosomal Recessive

Diseases in the Klippel-Feil Syndrome family:

Diseases related to Klippel-Feil Syndrome 2, Autosomal Recessive via text searches within MalaCards or GeneCards Suite gene sharing:

Symptoms & Phenotypes for Klippel-Feil Syndrome 2, Autosomal Recessive

Human phenotypes related to Klippel-Feil Syndrome 2, Autosomal Recessive:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

MGI Mouse Phenotypes related to Klippel-Feil Syndrome 2, Autosomal Recessive:

Drugs & Therapeutics for Klippel-Feil Syndrome 2, Autosomal Recessive

Genetic Tests for Klippel-Feil Syndrome 2, Autosomal Recessive

Genetic tests related to Klippel-Feil Syndrome 2, Autosomal Recessive:

Anatomical Context for Klippel-Feil Syndrome 2, Autosomal Recessive

MalaCards organs/tissues related to Klippel-Feil Syndrome 2, Autosomal Recessive:

Publications for Klippel-Feil Syndrome 2, Autosomal Recessive

Genes for Klippel-Feil Syndrome 2, Autosomal Recessive

Genes related to Klippel-Feil Syndrome 2, Autosomal Recessive (1 elite genes):

Variations for Klippel-Feil Syndrome 2, Autosomal Recessive

ClinVar genetic disease variations for Klippel-Feil Syndrome 2, Autosomal Recessive:

Expression for Klippel-Feil Syndrome 2, Autosomal Recessive

Pathways for Klippel-Feil Syndrome 2, Autosomal Recessive

GO Terms for Klippel-Feil Syndrome 2, Autosomal Recessive

Biological processes related to Klippel-Feil Syndrome 2, Autosomal Recessive according to GeneCards Suite gene sharing:

Sources for Klippel-Feil Syndrome 2, Autosomal Recessive