FEOM
MCID: TKL001
MIFTS: 46

Tukel Syndrome (FEOM)

Categories: Eye diseases, Fetal diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Tukel Syndrome

MalaCards integrated aliases for Tukel Syndrome:

Name: Tukel Syndrome 58 12 54 30 13 74
Congenital Fibrosis of the Extraocular Muscles 12 25 26 38 30 6 15 17 74
Congenital Fibrosis of Extraocular Muscles 54 26 60 30
Cfeom 25 26 56
Cfeom-U 58 54
Feom 54 60
Fibrosis of Extraocular Muscles, Congenital, with Ulnar Hand Anomalies 58
Congenital Extraocular Muscle Fibrosis with Ulnar Hand Anomalies 54
Fibrosis of Extraocular Muscles, Congenital, 4; Cfeom4 58
Congenital Fibrosis of the Extraocular Muscles 4 30
Fibrosis of Extraocular Muscles, Congenital, 4 58
Congenital External Ophthalmoplegia 26
Congenital Fibrosis Syndrome 26
General Fibrosis Syndrome 26
Cfeom4 58

Characteristics:

Orphanet epidemiological data:

60
congenital fibrosis of extraocular muscles
Inheritance: Autosomal dominant,Autosomal recessive,Not applicable;

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
tukel syndrome:
Inheritance autosomal recessive inheritance


GeneReviews:

25
Penetrance Penetrance in cfeom1a, cfeom1b, cfeom2, cfeom3b, cfeom3c, and tukel syndrome is complete...

Classifications:



External Ids:

Disease Ontology 12 DOID:0080143
OMIM 58 609428
KEGG 38 H00838
ICD10 via Orphanet 35 H49.8
UMLS via Orphanet 75 C1302995
Orphanet 60 ORPHA45358
MedGen 43 C1836217

Summaries for Tukel Syndrome

NIH Rare Diseases : 54 Congenital fibrosis of extraocular muscles (CFEOM) refers to a group of rare conditions that affect the normal development and function of the muscles that control eye movement and position. In general, people affected by these conditions are unable to move their eyes in certain directions and often have strabismus and/or droopy eyelids (ptosis); however, the severity of the condition and the associated signs and symptoms vary significantly by subtype. CFEOM can be caused by changes (mutations) in several genes, including KIF21A, TUBB3, PHOX2A, and TUBB2B. In some cases, the underlying genetic cause is unknown. CFEOM can be inherited in an autosomal dominant or autosomal recessive manner, depending on the subtype. Treatment is based on the signs and symptoms present in each person.

MalaCards based summary : Tukel Syndrome, also known as congenital fibrosis of the extraocular muscles, is related to fibrosis of extraocular muscles, congenital, 2 and ptosis, and has symptoms including ophthalmoplegia An important gene associated with Tukel Syndrome is KIF21A (Kinesin Family Member 21A), and among its related pathways/superpathways are Phagosome and Gap junction. Affiliated tissues include eye, bone and brain, and related phenotypes are ptosis and syndactyly

Description from OMIM: 609428
GeneReviews: NBK1348

Related Diseases for Tukel Syndrome

Diseases related to Tukel Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 40)
# Related Disease Score Top Affiliating Genes
1 fibrosis of extraocular muscles, congenital, 2 30.5 KIF21A PHOX2A
2 ptosis 29.9 KIF21A PHOX2A TUBB3 TUBB6
3 strabismus 29.8 CHN1 HOXB1 KIF21A PHOX2A TUBB3
4 hypertropia 29.7 CHN1 KIF21A TUBB3
5 hypotropia 29.5 APPL1 CHN1 KIF21A PHOX2A TUBB3
6 fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement 11.2
7 fibrosis of extraocular muscles, congenital, 1 11.2
8 fibrosis of extraocular muscles, congenital, with synergistic divergence 11.0
9 mechanical strabismus 10.3
10 tubulinopathy-associated dysgyria 10.3 TUBB2B TUBB3
11 moebius syndrome 10.2 PHOX2A TUBB3
12 marcus gunn phenomenon 10.1 CHN1 TUBB3
13 enophthalmos 10.1 CHN1 TNNI3K
14 kearns-sayre syndrome 10.1 KIF21A PHOX2A TUBB3
15 deafness, autosomal dominant 28 10.1 CHN1 KIF21A TUBB3
16 polymicrogyria 10.1
17 neonatal anemia 10.1 TUBB2B TUBB3
18 amblyopia 10.0 CHN1 PHOX2A TUBB3
19 noonan syndrome 1 10.0
20 aceruloplasminemia 10.0
21 hemangioma 10.0
22 uveitis 10.0
23 cavernous hemangioma 10.0
24 anterior uveitis 10.0
25 pseudo-turner syndrome 10.0
26 esotropia 10.0 CHN1 ROBO3 TUBB3
27 orbital disease 10.0 CHN1 TNNI3K
28 scleritis 10.0
29 peripheral nervous system disease 10.0 CHN1 KIF21A TUBB3
30 facial paralysis 10.0 HOXB1 TNNI3K TUBB3
31 tubulin, beta 10.0 TUBB2B TUBB3 TUBB6
32 cranial nerve disease 9.9 CHN1 KIF21A PHOX2A TUBB3
33 congenital nervous system abnormality 9.9 TUBB2B TUBB3
34 congenital ptosis 9.9 CHN1 KIF21A TNNI3K TUBB3
35 myopia 9.9
36 facial nerve disease 9.9 HOXB1 KIF21A PHOX2A TUBB3
37 duane retraction syndrome 9.9 CHN1 KIF21A TNNI3K TUBB3
38 paralytic squint 9.8 CHN1 KIF21A PHOX2A TUBB2B TUBB3
39 exotropia 9.8 CHN1 KIF21A PHOX2A TNNI3K TUBB3
40 ocular motility disease 9.6 CHN1 KIF21A PHOX2A ROBO3 TNNI3K TUBB3

Graphical network of the top 20 diseases related to Tukel Syndrome:



Diseases related to Tukel Syndrome

Symptoms & Phenotypes for Tukel Syndrome

Human phenotypes related to Tukel Syndrome:

33 (show all 9)
# Description HPO Frequency HPO Source Accession
1 ptosis 33 HP:0000508
2 syndactyly 33 HP:0001159
3 carpal synostosis 33 HP:0009702
4 congenital fibrosis of extraocular muscles 33 HP:0001491
5 postaxial oligodactyly 33 HP:0006210
6 compensatory chin elevation 33 HP:0001477
7 restrictive external ophthalmoplegia 33 HP:0007936
8 carpal bone aplasia 33 HP:0004231
9 nonprogressive restrictive external ophthalmoplegia 33 HP:0007831

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
blepharoptosis
congenital fibrosis of extraocular muscles (cfeom)
unilateral (right eye) involvement
nonprogressive restrictive ophthalmoplegia (superior rectus, inferior oblique, levator palpebralis dysfunction)

Head And Neck Head:
compensatory head tilt/chin elevation

Skeletal Hands:
fused carpal bones
bilateral postaxial oligodactyly/oligosyndactyly (right side affected greater than left)
absent carpal bones

Clinical features from OMIM:

609428

UMLS symptoms related to Tukel Syndrome:


ophthalmoplegia

MGI Mouse Phenotypes related to Tukel Syndrome:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.23 APPL1 CHN1 HOXB1 PHOX2A ROBO3 TNNI3K

Drugs & Therapeutics for Tukel Syndrome

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Genetic Studies of Strabismus, Congenital Cranial Dysinnervation Disorders (CCDDs), and Their Associated Anomalies Recruiting NCT03059420

Search NIH Clinical Center for Tukel Syndrome

Genetic Tests for Tukel Syndrome

Genetic tests related to Tukel Syndrome:

# Genetic test Affiliating Genes
1 Congenital Fibrosis of the Extraocular Muscles 4 30
2 Congenital Fibrosis of the Extraocular Muscles 30
3 Tukel Syndrome 30
4 Congenital Fibrosis of Extraocular Muscles 30

Anatomical Context for Tukel Syndrome

MalaCards organs/tissues related to Tukel Syndrome:

42
Eye, Bone, Brain

Publications for Tukel Syndrome

Articles related to Tukel Syndrome:

(show top 50) (show all 57)
# Title Authors Year
1
Comparison of Clinical and Radiological Findings between Congenital Orbital Fibrosis and Congenital Fibrosis of the Extraocular Muscles. ( 30081646 )
2018
2
Clinical characteristics of a KIF21A mutation in a Chinese family with congenital fibrosis of the extraocular muscles type 1. ( 28930843 )
2017
3
Clinical heterogeneity associated with TUBB3 gene mutation in a Turkish family with congenital fibrosis of the extraocular muscles. ( 27428177 )
2016
4
KIF21A mutation in two Chinese families with congenital fibrosis of the extraocular muscles type 1 and 3. ( 27513105 )
2016
5
Brain Abnormalities in Congenital Fibrosis of the Extraocular Muscles Type 1: A Multimodal MRI Imaging Study. ( 26186732 )
2015
6
Maternal germline mosaicism of kinesin family member 21A (KIF21A) mutation causes complex phenotypes in a Chinese family with congenital fibrosis of the extraocular muscles. ( 24426772 )
2014
7
Retinal Dysfunction in Patients with Congenital Fibrosis of the Extraocular Muscles Type 2. ( 24940936 )
2014
8
Strabismus surgery in congenital fibrosis of the extraocular muscles: a paradigm. ( 25347047 )
2014
9
A novel de novo KIF21A mutation in a patient with congenital fibrosis of the extraocular muscles and MAPbius syndrome. ( 24715754 )
2014
10
Sclerosing cavernous hemangioma of the cavernous sinus mimicking congenital fibrosis of the extraocular muscles. ( 24751811 )
2014
11
Cerebellar atrophy in congenital fibrosis of the extraocular muscles type 1. ( 22699964 )
2013
12
Congenital fibrosis of the extraocular muscles: magnetic resonance imaging findings and surgical treatment. ( 23978146 )
2013
13
Dissociated vertical deviation in congenital fibrosis of the extraocular muscles. ( 22415008 )
2013
14
Spatiotemporal expression pattern of KIF21A during normal embryonic development and in congenital fibrosis of the extraocular muscles type 1 (CFEOM1). ( 22465342 )
2012
15
Surgically mismanaged ptosis in a patient with congenital fibrosis of the extraocular muscles type I. ( 23248547 )
2012
16
Lack of KIF21A mutations in congenital fibrosis of the extraocular muscles type I patients from consanguineous Saudi Arabian families. ( 21264235 )
2011
17
Unilateral congenital fibrosis of the extraocular muscles with lid retraction: surgical treatment with a silicon plate on the orbital floor. ( 21314337 )
2011
18
The optic nerve head in congenital fibrosis of the extraocular muscles. ( 21449832 )
2011
19
KIF21A novel deletion and recurrent mutation in patients with congenital fibrosis of the extraocular muscles-1. ( 21805025 )
2011
20
[Mutation analysis of KIF21A gene in a Chinese family with congenital fibrosis of the extraocular muscles type I]. ( 21983718 )
2011
21
Congenital fibrosis of the extraocular muscles. ( 21120060 )
2010
22
KIF21A mutations in two Chinese families with congenital fibrosis of the extraocular muscles (CFEOM). ( 21042561 )
2010
23
Germline Mosaicism for KIF21A Mutation (p.R954L) Mimicking Recessive Inheritance for Congenital Fibrosis of the Extraocular Muscles. ( 19896199 )
2010
24
Congenital fibrosis of the extraocular muscles. ( 21217899 )
2010
25
A major mutation of KIF21A associated with congenital fibrosis of the extraocular muscles type 1 (CFEOM1) enhances translocation of Kank1 to the membrane. ( 19559006 )
2009
26
Congenital fibrosis of the extraocular muscles type 1, distinctive conjunctival changes and intrapapillary disc colobomata. ( 19373680 )
2009
27
Unexpected clinical involvement of hereditary total leuconychia with congenital fibrosis of the extraocular muscles in three generations. ( 19489868 )
2009
28
Novel and recurrent KIF21A mutations in congenital fibrosis of the extraocular muscles type 1 and 3. ( 18332320 )
2008
29
Congenital fibrosis of the extraocular muscles. ( 18214786 )
2008
30
Congenital fibrosis of the extraocular muscles (CFEOM) syndrome associated with progressive cerebellar ataxia. ( 17551929 )
2007
31
Abnormalities of the oculomotor nerve in congenital fibrosis of the extraocular muscles and congenital oculomotor palsy. ( 17389489 )
2007
32
Mutation p.Arg954Trp of KIF21A causes congenital fibrosis of the extraocular muscles in a Chinese family. ( 16939002 )
2006
33
Neurological features of congenital fibrosis of the extraocular muscles type 2 with mutations in PHOX2A. ( 16815872 )
2006
34
A novel KIF21A mutation in a patient with congenital fibrosis of the extraocular muscles and Marcus Gunn jaw-winking phenomenon. ( 16157808 )
2005
35
Anterior uveitis and congenital fibrosis of the extraocular muscles in a patient with Noonan syndrome. ( 16388177 )
2005
36
Recurrent mutation of the KIF21A gene in Japanese patients with congenital fibrosis of the extraocular muscles. ( 16365788 )
2005
37
Mutation analysis of KIF21A in congenital fibrosis of the extraocular muscles (CFEOM) patients. ( 15621876 )
2004
38
Identification of KIF21A mutations as a rare cause of congenital fibrosis of the extraocular muscles type 3 (CFEOM3). ( 15223798 )
2004
39
Classification and surgical management of patients with familial and sporadic forms of congenital fibrosis of the extraocular muscles. ( 15121385 )
2004
40
Congenital fibrosis of the extraocular muscles with brain-stem abnormalities: a novel finding. ( 15491041 )
2004
41
Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1). ( 14595441 )
2003
42
A Japanese family with FEOM1-linked congenital fibrosis of the extraocular muscles type 1 associated with spinal canal stenosis and refinement of the FEOM1 critical region. ( 12899874 )
2003
43
CFEOM1, the classic familial form of congenital fibrosis of the extraocular muscles, is genetically heterogeneous but does not result from mutations in ARIX. ( 11882252 )
2002
44
Clinical phenotype and linkage analysis of the congenital fibrosis of the extraocular muscles in an Indian family. ( 12181522 )
2002
45
Homozygous mutations in ARIX(PHOX2A) result in congenital fibrosis of the extraocular muscles type 2. ( 11600883 )
2001
46
Congenital fibrosis of the extraocular muscles associated with cortical dysplasia and maldevelopment of the basal ganglia. ( 11425694 )
2001
47
Evidence of genetic heterogeneity in autosomal recessive congenital fibrosis of the extraocular muscles. ( 10844060 )
2000
48
Congenital fibrosis of the extraocular muscles type 2, an inherited exotropic strabismus fixus, maps to distal 11q13. ( 9683611 )
1998
49
Phenotypic heterogeneity may occur in congenital fibrosis of the extraocular muscles. ( 9797671 )
1998
50
Oculomotor nerve and muscle abnormalities in congenital fibrosis of the extraocular muscles. ( 9066352 )
1997

Variations for Tukel Syndrome

Expression for Tukel Syndrome

Search GEO for disease gene expression data for Tukel Syndrome.

Pathways for Tukel Syndrome

Pathways related to Tukel Syndrome according to KEGG:

38
# Name Kegg Source Accession
1 Phagosome hsa04145
2 Gap junction hsa04540

Pathways related to Tukel Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.02 TUBB2B TUBB3 TUBB6
2
Show member pathways
11.99 TUBB2B TUBB3 TUBB6
3
Show member pathways
11.8 TUBB2B TUBB3 TUBB6
4
Show member pathways
11.75 ROBO3 TUBB2B TUBB3 TUBB6
5 11.73 TUBB2B TUBB3 TUBB6
6
Show member pathways
11.66 TUBB2B TUBB3 TUBB6
7
Show member pathways
11.52 TUBB2B TUBB3 TUBB6
8
Show member pathways
11.37 TUBB2B TUBB3 TUBB6
9 10.78 TUBB2B TUBB3 TUBB6

GO Terms for Tukel Syndrome

Cellular components related to Tukel Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 microtubule GO:0005874 9.02 KIF21A KIF21B TUBB2B TUBB3 TUBB6
2 kinesin complex GO:0005871 8.96 KIF21A KIF21B

Biological processes related to Tukel Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitotic cell cycle GO:0000278 9.33 TUBB2B TUBB3 TUBB6
2 microtubule-based process GO:0007017 9.13 TUBB2B TUBB3 TUBB6
3 microtubule cytoskeleton organization GO:0000226 8.92 PHLDB2 TUBB2B TUBB3 TUBB6

Molecular functions related to Tukel Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 structural constituent of cytoskeleton GO:0005200 8.8 TUBB2B TUBB3 TUBB6

Sources for Tukel Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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