KFS2
MCID: KLP008
MIFTS: 27

Klippel-Feil Syndrome 2, Autosomal Recessive (KFS2)

Categories: Bone diseases, Genetic diseases, Rare diseases

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 56 73 29 13 6
Klippel-Feil Syndrome 2 56 12
Kfs2 56 73
Klippel-Feil Syndrome, Type 2, Autosomal Recessive 39
Cervical Vertebral Fusion, Autosomal Recessive 56
Cervical Vertebral Fusion Autosomal Recessive 73
Klippel Feil Syndrome Recessive Type 71
Kfs, Autosomal Recessive 56
Kfs Autosomal Recessive 73

Characteristics:

OMIM:

56
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:



External Ids:

Disease Ontology 12 DOID:0080590
OMIM 56 214300
OMIM Phenotypic Series 56 PS118100
MeSH 43 D007714
MedGen 41 C1859209
UMLS 71 C1859209

Summaries for Klippel-Feil Syndrome 2, Autosomal Recessive

OMIM : 56 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 klippel-feil syndrome 2, is related to 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 short neck and scoliosis

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

UniProtKB/Swiss-Prot : 73 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.

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 klippel-feil syndrome 9.2 RIPPLY2 MEOX1

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 Frequency HPO Source Accession
1 short neck 31 HP:0000470
2 scoliosis 31 HP:0002650
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:

56
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:

45
# 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

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

Search Clinical Trials , NIH Clinical Center 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:

# Genetic test Affiliating Genes
1 Klippel-Feil Syndrome 2, Autosomal Recessive 29 MEOX1

Anatomical Context for Klippel-Feil Syndrome 2, Autosomal Recessive

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

40
Bone

Publications for Klippel-Feil Syndrome 2, Autosomal Recessive

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

(show all 11)
# Title Authors PMID Year
1
Mutation in MEOX1 gene causes a recessive Klippel-Feil syndrome subtype. 56 6
24073994 2013
2
Mutations in MEOX1, encoding mesenchyme homeobox 1, cause Klippel-Feil anomaly. 6 56
23290072 2013
3
Klippel-Feil syndrome: clinical features and current understanding of etiology. 56
15241163 2004
4
Report of a girl with Klippel-feil syndrome and Poland anomaly. 56
15658624 2004
5
Subclavian artery supply disruption sequence-Klippel-Feil and Mobius anomalies. 56
12061681 2002
6
Heterogeneity in Klippel-Feil syndrome: a new classification. 56
9880643 1998
7
Frontonasal dysplasia in the Klippel-Feil syndrome: a new associated malformation. 56
7151311 1982
8
Autosomal recessive Klippel-Feil syndrome. 56
7077623 1982
9
Absent ulna in the Klippel-Feil syndrome: an unusual associated malformation. 56
7363502 1980
10
Cervical vertebral fusion (Klippel-Feil) syndrome with consanguineous parents. 56
933127 1976
11
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
17390895 2006

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 GRCh37 Pos GRCh38 Pos
1 MEOX1 NM_004527.4(MEOX1):c.94del (p.Ala32fs)deletion Pathogenic 39507 rs1567750527 17:41738809-41738809 17:43661441-43661441
2 MEOX1 NM_004527.4(MEOX1):c.664C>T (p.Arg222Ter)SNV Pathogenic 39508 rs772798486 17:41719379-41719379 17:43642011-43642011
3 MEOX1 NM_004527.4(MEOX1):c.250C>T (p.Gln84Ter)SNV Pathogenic 162132 rs713993044 17:41738653-41738653 17:43661285-43661285
4 RIPPLY2 NM_001009994.2(RIPPLY2):c.299del (p.Leu100fs)deletion Likely pathogenic 218314 rs864309489 6:84567020-84567020 6:83857301-83857301

Expression for Klippel-Feil Syndrome 2, Autosomal Recessive

Search GEO for disease gene expression data 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:

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

Sources for Klippel-Feil Syndrome 2, Autosomal Recessive

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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