MCID: KLP008
MIFTS: 25

Klippel-Feil Syndrome 2, Autosomal Recessive

Categories: Genetic diseases, Rare diseases, Ear 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 57 75 29 13 6
Kfs2 57 75
Klippel-Feil Syndrome, Type 2, Autosomal Recessive 40
Cervical Vertebral Fusion, Autosomal Recessive 57
Cervical Vertebral Fusion Autosomal Recessive 75
Klippel Feil Syndrome Recessive Type 73
Kfs, Autosomal Recessive 57
Klippel-Feil Syndrome 2 57
Kfs Autosomal Recessive 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
klippel-feil syndrome 2, autosomal recessive:
Inheritance autosomal recessive inheritance


Classifications:



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)

MalaCards based summary : Klippel-Feil Syndrome 2, Autosomal Recessive, also known as kfs2, 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

UniProtKB/Swiss-Prot : 75 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

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 9.0 MEOX1 RIPPLY2

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

Symptoms via clinical synopsis from OMIM:

57
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

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

32 (show all 13)
# Description HPO Frequency HPO Source Accession
1 short neck 32 HP:0000470
2 scoliosis 32 HP:0002650
3 sensorineural hearing impairment 32 HP:0000407
4 cleft palate 32 HP:0000175
5 low posterior hairline 32 HP:0002162
6 sprengel anomaly 32 HP:0000912
7 abnormality of the pinna 32 HP:0000377
8 conductive hearing impairment 32 HP:0000405
9 ventricular septal defect 32 HP:0001629
10 cleft upper lip 32 HP:0000204
11 fused cervical vertebrae 32 HP:0002949
12 cervical c2/c3 vertebral fusion 32 HP:0004602
13 limited neck range of motion 32 HP:0000466

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

46
# 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:

41
Bone

Publications for Klippel-Feil Syndrome 2, Autosomal Recessive

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 MEOX1, 1-BP DEL, 94G deletion Pathogenic
2 MEOX1 MEOX1, ARG222TER single nucleotide variant Pathogenic
3 MEOX1 NM_004527.3(MEOX1): c.250C> T (p.Gln84Ter) single nucleotide variant Pathogenic rs713993044 GRCh37 Chromosome 17, 41738653: 41738653
4 MEOX1 NM_004527.3(MEOX1): c.250C> T (p.Gln84Ter) single nucleotide variant Pathogenic rs713993044 GRCh38 Chromosome 17, 43661285: 43661285
5 RIPPLY2 NM_001009994.2(RIPPLY2): c.299delT (p.Leu100Argfs) deletion Likely pathogenic rs864309489 GRCh37 Chromosome 6, 84567020: 84567020
6 RIPPLY2 NM_001009994.2(RIPPLY2): c.299delT (p.Leu100Argfs) deletion Likely pathogenic rs864309489 GRCh38 Chromosome 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 MEOX1 RIPPLY2

Sources for Klippel-Feil Syndrome 2, Autosomal Recessive

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
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42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
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54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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