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 ⁷³ ²⁸ ¹² ⁵

Klippel-Feil Syndrome 2 ⁵⁷ ¹¹ ¹⁴

Cervical Vertebral Fusion Autosomal Recessive ⁷³ ⁵

Kfs2 ⁵⁷ ⁷³

Klippel-Feil Syndrome, Type 2, Autosomal Recessive ³⁸

Cervical Vertebral Fusion, Autosomal Recessive ⁵⁷

Klippel Feil Syndrome Recessive Type ⁷¹

Kfs, Autosomal Recessive ⁵⁷

Kfs Autosomal Recessive ⁷³

Characteristics:

Inheritance:

Autosomal recessive ⁵⁷

OMIM®:

⁵⁷ (Updated 08-Dec-2022)

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

Classifications:

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

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹¹ DOID:0080590

OMIM® ⁵⁷ 214300

OMIM Phenotypic Series ⁵⁷ PS118100

MeSH ⁴³ D007714

MedGen ⁴⁰ C1859209

SNOMED-CT via HPO ⁶⁹ 111266001 253255002 253549006 more

UMLS ⁷¹ 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 08-Dec-2022)

MalaCards based summary: Klippel-Feil Syndrome 2, Autosomal Recessive, also known as klippel-feil syndrome 2, is related to spondylocostal dysostosis 6, autosomal recessive 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

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.

Disease Ontology: ¹¹ A Klippel-Feil syndrome that has material basis in homozygous mutation in the MEOX1 gene on chromosome 17q21.

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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	spondylocostal dysostosis 6, autosomal recessive	9.5	RIPPLY2-CYB5R4 RIPPLY2
2	klippel-feil syndrome	9.3	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:

³⁰ (show all 13)

#	Description	HPO Source Accession
1	scoliosis ³⁰	HP:0002650
2	short neck ³⁰	HP:0000470
3	sensorineural hearing impairment ³⁰	HP:0000407
4	cleft palate ³⁰	HP:0000175
5	low posterior hairline ³⁰	HP:0002162
6	sprengel anomaly ³⁰	HP:0000912
7	conductive hearing impairment ³⁰	HP:0000405
8	cleft upper lip ³⁰	HP:0000204
9	ventricular septal defect ³⁰	HP:0001629
10	fused cervical vertebrae ³⁰	HP:0002949
11	cervical c2/c3 vertebral fusion ³⁰	HP:0004602
12	limited neck range of motion ³⁰	HP:0000466
13	abnormal pinna morphology ³⁰	HP:0000377

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 08-Dec-2022)

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 08-Dec-2022)

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

⁴⁵

#	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 ²⁸	MEOX1

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Anatomical Context for Klippel-Feil Syndrome 2, Autosomal Recessive

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

MalaCards : Bone

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Publications for Klippel-Feil Syndrome 2, Autosomal Recessive

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

(show all 16)

#	Title	Authors	PMID	Year
1	Mutation in MEOX1 gene causes a recessive Klippel-Feil syndrome subtype. ⁵⁷ ⁵	Bayrakli F...Kars HZ	24073994	2013
2	Mutations in MEOX1, encoding mesenchyme homeobox 1, cause Klippel-Feil anomaly. ⁵⁷ ⁵	Mohamed JY...Alkuraya FS	23290072	2013
3	Rare variants in the notch signaling pathway describe a novel type of autosomal recessive Klippel-Feil syndrome. ⁵	Karaca E...Baylor-Hopkins Center for Mendelian Genomics	26238661	2015
4	Compound heterozygous mutations in RIPPLY2 associated with vertebral segmentation defects. ⁵	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	The squiggle tail (squig) mutation in mice is associated with a deletion in the mesenchyme homeobox 1 (Meox1) gene. ⁶²	Girard JP...King TR	36138442	2022
14	Clinical and radiological findings in Arnold Chiari malformation. ⁶²	Khan AA...Afzal S	21702272	2010
15	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
16	Sternal split approach to the cervicothoracic junction in children. ⁶²	Mulpuri K...Tredwell SJ	15928540	2005

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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	1015.84	Molecular basis known ⁵⁷ Pathogenic ⁵ Genetic Tests ²⁸ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)	23290072 24073994
2	MYO18B	Myosin XVIIIB	Protein Coding	25	Likely pathogenic ⁵
3	RIPPLY2	Ripply Transcriptional Repressor 2	Protein Coding	25	Likely pathogenic ⁵	26238661 25343988
4	RIPPLY2-CYB5R4	RIPPLY2-CYB5R4 Readthrough	Protein Coding	25	Likely pathogenic ⁵	26238661 25343988

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Variations for Klippel-Feil Syndrome 2, Autosomal Recessive

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

⁵ (show all 18)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	MEOX1	NM_004527.4(MEOX1):c.94del (p.Ala32fs)	DEL	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	MYO18B	NM_032608.7(MYO18B):c.5038dup (p.Glu1680fs)	DUP	Likely Pathogenic	634522	rs1569172839	GRCh37: 22:26299683-26299684 GRCh38: 22:25903716-25903717
5	RIPPLY2-CYB5R4, RIPPLY2	NM_001009994.3(RIPPLY2):c.299del (p.Leu100fs)	DEL	Likely Pathogenic	218314	rs864309489	GRCh37: 6:84567020-84567020 GRCh38: 6:83857301-83857301
6	GDF6	NM_001001557.4(GDF6):c.320_321insCTTT	INSERT	Uncertain Significance	364026	rs886063199	GRCh37: 8:97156470-97156471 GRCh38: 8:96144242-96144243
7	GDF6	NM_001001557.4(GDF6):c.268_275delinsCTTT	INDEL	Uncertain Significance	364032	rs886063205	GRCh37: 8:97156516-97156523 GRCh38: 8:96144288-96144295
8	GDF6	NM_001001557.4(GDF6):c.322_323insTT	INSERT	Uncertain Significance	364024	rs886063197	GRCh37: 8:97156468-97156469 GRCh38: 8:96144240-96144241
9	GDF6	NM_001001557.4(GDF6):c.271_272insCTC	INSERT	Uncertain Significance	364034	rs1554571161	GRCh37: 8:97156519-97156520 GRCh38: 8:96144291-96144292
10	GDF6	NM_001001557.4(GDF6):c.*273CT[20]	MICROSAT	Uncertain Significance	364027	rs71275339	GRCh37: 8:97156473-97156478 GRCh38: 8:96144245-96144250
11	GDF6	NM_001001557.4(GDF6):c.272_278del	DEL	Uncertain Significance	364030	rs886063203	GRCh37: 8:97156513-97156519 GRCh38: 8:96144285-96144291
12	GDF6	NM_001001557.4(GDF6):c.271_272insC	INSERT	Uncertain Significance	364033	rs1554571161	GRCh37: 8:97156519-97156520 GRCh38: 8:96144291-96144292
13	GDF6	NM_001001557.4(GDF6):c.321_322del	DEL	Uncertain Significance	364025	rs886063198	GRCh37: 8:97156469-97156470 GRCh38: 8:96144241-96144242
14	MYO18B	NM_032608.7(MYO18B):c.736G>T (p.Gly246Trp)	SNV	Likely Benign	587504	rs1568989210	GRCh37: 22:26164619-26164619 GRCh38: 22:25768652-25768652
15	GDF6	NM_001001557.3(GDF6):c.*2243G>C	SNV	Likely Benign	369618	rs142786788	GRCh37: 8:97154548-97154548 GRCh38: 8:96142320-96142320
16	GDF6	NM_001001557.4(GDF6):c.1429_1430del	DEL	Likely Benign	364012	rs139734303	GRCh37: 8:97155361-97155362 GRCh38: 8:96143133-96143134
17	GDF6	NM_001001557.4(GDF6):c.746C>A (p.Ala249Glu)	SNV	Likely Benign	8371	rs121909352	GRCh37: 8:97157413-97157413 GRCh38: 8:96145185-96145185
18	GDF6	NM_001001557.4(GDF6):c.1271A>G (p.Lys424Arg)	SNV	Likely Benign	8373	rs121909353	GRCh37: 8:97156888-97156888 GRCh38: 8:96144660-96144660

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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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Sources for Klippel-Feil Syndrome 2, Autosomal Recessive

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⁵⁷ OMIM® (Updated 08-Dec-2022)

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KFS2 MCID: KLP008 MIFTS: 29	Klippel-Feil Syndrome 2, Autosomal Recessive (KFS2) Categories: Bone diseases, Genetic diseases, Rare diseases	Data Licensing For inquiries, contact: [email protected]
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

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:

Inheritance:

OMIM®:

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

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