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 ⁵⁷ ⁷² ²⁹ ¹³ ⁶

Cervical Vertebral Fusion Autosomal Recessive ⁷² ⁶

Klippel-Feil Syndrome 2 ⁵⁷ ¹²

Kfs2 ⁵⁷ ⁷²

Klippel-Feil Syndrome, Type 2, Autosomal Recessive ³⁹

Cervical Vertebral Fusion, Autosomal Recessive ⁵⁷

Klippel Feil Syndrome Recessive Type ⁷⁰

Kfs, Autosomal Recessive ⁵⁷

Kfs Autosomal Recessive ⁷²

Characteristics:

OMIM®:

⁵⁷ (Updated 20-May-2021)

Inheritance:
autosomal recessive

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

HPO:

³¹

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

Classifications:

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

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:0080590

OMIM® ⁵⁷ 214300

OMIM Phenotypic Series ⁵⁷ PS118100

MeSH ⁴⁴ D007714

MedGen ⁴¹ C1859209

SNOMED-CT via HPO ⁶⁸ 111266001 253255002 253549006 more

UMLS ⁷⁰ C1859209

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Summaries for Klippel-Feil Syndrome 2, Autosomal Recessive

OMIM® : ⁵⁷ 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) (Updated 20-May-2021)

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

Disease Ontology : ¹² A Klippel-Feil syndrome that has material basis in homozygous mutation in the MEOX1 gene on chromosome 17q21.

UniProtKB/Swiss-Prot : ⁷² 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	Klippel-Feil Syndrome 1
Klippel-Feil Syndrome 3	Klippel-Feil Syndrome 4

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	isolated klippel-feil syndrome	9.4	RIPPLY2 MEOX1
2	klippel-feil syndrome	9.2	RIPPLY2 MYO18B MEOX1

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

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

³¹ (show all 13)

#	Description	HPO Source Accession
1	scoliosis ³¹	HP:0002650
2	short neck ³¹	HP:0000470
3	sensorineural hearing impairment ³¹	HP:0000407
4	cleft palate ³¹	HP:0000175
5	low posterior hairline ³¹	HP:0002162
6	sprengel anomaly ³¹	HP:0000912
7	conductive hearing impairment ³¹	HP:0000405
8	cleft upper lip ³¹	HP:0000204
9	ventricular septal defect ³¹	HP:0001629
10	fused cervical vertebrae ³¹	HP:0002949
11	abnormality of the pinna ³¹	HP:0000377
12	cervical c2/c3 vertebral fusion ³¹	HP:0004602
13	limited neck range of motion ³¹	HP:0000466

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 20-May-2021)

Skeletal Spine:
scoliosis
fusion of cervical vertebrae

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)

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

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 (Updated 20-May-2021)

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

⁴⁶

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	muscle	MP:0005369	8.8	MEOX1 MYO18B 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 ²⁹	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:

⁴⁰

Bone

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Publications for Klippel-Feil Syndrome 2, Autosomal Recessive

Articles related to Klippel-Feil Syndrome 2, Autosomal Recessive:

(show all 13)

#	Title	Authors	PMID	Year
1	Mutation in MEOX1 gene causes a recessive Klippel-Feil syndrome subtype. ⁶ ⁵⁷	Bayrakli F...Kars HZ	24073994	2013
2	Mutations in MEOX1, encoding mesenchyme homeobox 1, cause Klippel-Feil anomaly. ⁵⁷ ⁶	Mohamed JY...Alkuraya FS	23290072	2013
3	Rare variants in the notch signaling pathway describe a novel type of autosomal recessive Klippel-Feil syndrome. ⁶	Karaca E...Baylor-Hopkins Center for Mendelian Genomics	26238661	2015
4	Compound heterozygous mutations in RIPPLY2 associated with vertebral segmentation defects. ⁶	McInerney-Leo AM...Duncan EL	25343988	2015
5	Klippel-Feil syndrome: clinical features and current understanding of etiology. ⁵⁷	Tracy MR...Kusumi K	15241163	2004
6	Report of a girl with Klippel-feil syndrome and Poland anomaly. ⁵⁷	Erol M...Odabas D	15658624	2004
7	Subclavian artery supply disruption sequence-Klippel-Feil and Mobius anomalies. ⁵⁷	Issaivanan M...Parmar VR	12061681	2002
8	Heterogeneity in Klippel-Feil syndrome: a new classification. ⁵⁷	Clarke RA...Kearsley JH	9880643	1998
9	Frontonasal dysplasia in the Klippel-Feil syndrome: a new associated malformation. ⁵⁷	Fragoso R...Cantu JM	7151311	1982
10	Autosomal recessive Klippel-Feil syndrome. ⁵⁷	Da Silva EO	7077623	1982
11	Absent ulna in the Klippel-Feil syndrome: an unusual associated malformation. ⁵⁷	Chemke J...Fischel RE	7363502	1980
12	Cervical vertebral fusion (Klippel-Feil) syndrome with consanguineous parents. ⁵⁷	Juberg RC...Gershanik JJ	933127	1976
13	Identification of prevalent potyvirus on maize and johnsongrass in corn fields of Tehran province of Iran and a study on some of its properties. ⁶¹	Mohammadi MR...Hajieghrari B	17390895	2006

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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	PubMed IDs
1	MEOX1	Mesenchyme Homeobox 1	Protein Coding	1017.84	Molecular basis known ⁵⁷ Pathogenic ⁶ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	23290072
2	RIPPLY2	Ripply Transcriptional Repressor 2	Protein Coding	32.65	Likely pathogenic ⁶ GeneCards inferred via : Variants (show sections)	26238661 25343988
3	MYO18B	Myosin XVIIIB	Protein Coding	25	Likely pathogenic ⁶

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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	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	MEOX1	NM_004527.4(MEOX1):c.94del (p.Ala32fs)	Deletion	Pathogenic	39507	rs1567750527	GRCh37: 17:41738809-41738809 GRCh38: 17:43661441-43661441
2	MEOX1	NM_004527.4(MEOX1):c.664C>T (p.Arg222Ter)	SNV	Pathogenic	39508	rs772798486	GRCh37: 17:41719379-41719379 GRCh38: 17:43642011-43642011
3	MEOX1	NM_004527.4(MEOX1):c.250C>T (p.Gln84Ter)	SNV	Pathogenic	162132	rs713993044	GRCh37: 17:41738653-41738653 GRCh38: 17:43661285-43661285
4	MEOX1	NM_004527.4(MEOX1):c.125del (p.Pro42fs)	Deletion	Pathogenic	1029858		GRCh37: 17:41738778-41738778 GRCh38: 17:43661410-43661410
5	MYO18B	NM_032608.7(MYO18B):c.5038dup (p.Glu1680fs)	Duplication	Likely pathogenic	634522	rs1569172839	GRCh37: 22:26299683-26299684 GRCh38: 22:25903716-25903717
6	RIPPLY2	NM_001009994.2(RIPPLY2):c.299del (p.Leu100fs)	Deletion	Likely pathogenic	218314	rs864309489	GRCh37: 6:84567020-84567020 GRCh38: 6:83857301-83857301
7	GDF6	NM_001001557.4(GDF6):c.1271A>G (p.Lys424Arg)	SNV	Likely benign	8373	rs121909353	GRCh37: 8:97156888-97156888 GRCh38: 8:96144660-96144660
8	GDF6	NM_001001557.4(GDF6):c.746C>A (p.Ala249Glu)	SNV	Likely benign	8371	rs121909352	GRCh37: 8:97157413-97157413 GRCh38: 8:96145185-96145185

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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

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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

Articles related to 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

Sources for Klippel-Feil Syndrome 2, Autosomal Recessive