MCID: TKL001
MIFTS: 33

Tukel Syndrome malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases

Aliases & Classifications for Tukel Syndrome

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Aliases & Descriptions for Tukel Syndrome:

Name: Tukel Syndrome 52 11 48 24 27 12 68
Congenital Fibrosis of the Extraocular Muscles 11 23 24 25 13 68
Cfeom 23 24 25 50
Congenital Fibrosis of Extraocular Muscles 48 25 54
Congenital Fibrosis of the Extraocular Muscles 4 24 27
Fibrosis of Extraocular Muscles, Congenital 24 27
Feom 48 54
 
Congenital Extraocular Muscle Fibrosis with Ulnar Hand Anomalies 48
Congenital External Ophthalmoplegia 25
Congenital Fibrosis Syndrome 25
General Fibrosis Syndrome 25
Cfeom 4 24
Cfeom-U 48
Cfeom4 24

Characteristics:

Orphanet epidemiological data:

54
congenital fibrosis of extraocular muscles:
Inheritance: Autosomal dominant,Autosomal recessive,Not applicable

HPO:

64
tukel syndrome:
Inheritance: autosomal recessive inheritance

GeneReviews:

23
Penetrance: penetrance in cfeom1a, cfeom1b, cfeom2, cfeom3b, cfeom3c, and tukel syndrome is complete...


Classifications:



External Ids:

OMIM52 609428
Disease Ontology11 DOID:0080143
Orphanet54 ORPHA45358
ICD10 via Orphanet31 H49.8

Summaries for Tukel Syndrome

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Genetics Home Reference:25 Congenital fibrosis of the extraocular muscles is a disorder that affects the muscles that surround the eyes. These muscles control eye movement and the position of the eyes (for example, looking straight ahead). Congenital fibrosis of the extraocular muscles prevents the normal development and function of these muscles. As a result, affected individuals are unable to move their eyes normally. Most people with this condition have difficulty looking upward, and their side-to-side eye movement may also be limited. The eyes may be misaligned such that they look in different directions (strabismus). Instead of moving their eyes, affected individuals may need to turn their head to track moving objects. Additionally, many people with congenital fibrosis of the extraocular muscles have droopy eyelids (ptosis), which further limits their vision.

MalaCards based summary: Tukel Syndrome, also known as congenital fibrosis of the extraocular muscles, is related to kif21a-related congenital fibrosis of the extraocular muscles and phox2a-related congenital fibrosis of the extraocular muscles, and has symptoms including ptosis, syndactyly and compensatory chin elevation. An important gene associated with Tukel Syndrome is TUBB3 (Tubulin Beta 3 Class III). Affiliated tissues include eye and bone, and related mouse phenotypes are nervous system and cellular.

Disease Ontology:11 An ocular motility disease that is characterized by the inability to move the eyes in certain directions, droopy eyelids and eyes that are fixed in an abnormal position.

Description from OMIM:52 609428

GeneReviews for NBK1348

Related Diseases for Tukel Syndrome

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



Diseases related to tukel syndrome

Symptoms & Phenotypes for Tukel Syndrome

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Symptoms by clinical synopsis from OMIM:

609428

Clinical features from OMIM:

609428

Human phenotypes related to Tukel Syndrome:

 64 (show all 9)
id Description HPO Frequency HPO Source Accession
1 ptosis64 HP:0000508
2 syndactyly64 HP:0001159
3 compensatory chin elevation64 HP:0001477
4 congenital fibrosis of extraocular muscles64 HP:0001491
5 carpal bone aplasia64 HP:0004231
6 postaxial oligodactyly64 HP:0006210
7 nonprogressive restrictive external ophthalmoplegia64 HP:0007831
8 restrictive external ophthalmoplegia64 HP:0007936
9 carpal synostosis64 HP:0009702

MGI Mouse Phenotypes related to Tukel Syndrome according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00036318.3CHN1, ECEL1, HOXA1, HOXB1, PHOX2A, ROBO3
2MP:00053848.3APPL1, CHN1, HOXA1, HOXB1, PHOX2A, ROBO3
3MP:00053888.0ECEL1, HOXA1, HOXB1, PHOX2A, ROBO3, TUBB2B

Drugs & Therapeutics for Tukel Syndrome

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Tukel Syndrome

Genetic Tests for Tukel Syndrome

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Genetic tests related to Tukel Syndrome:

id Genetic test Affiliating Genes
1 Congenital Fibrosis of the Extraocular Muscles 427 24
2 Congenital Fibrosis of the Extraocular Muscles27 24 TUBB3
3 Tukel Syndrome27 24
4 Congenital Fibrosis of Extraocular Muscles27

Anatomical Context for Tukel Syndrome

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MalaCards organs/tissues related to Tukel Syndrome:

36
Eye, Bone

Publications for Tukel Syndrome

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Variations for Tukel Syndrome

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Expression for genes affiliated with Tukel Syndrome

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Search GEO for disease gene expression data for Tukel Syndrome.

Pathways for genes affiliated with Tukel Syndrome

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GO Terms for genes affiliated with Tukel Syndrome

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

idNameGO IDScoreTop Affiliating Genes
1kinesin complexGO:000587110.0KIF21A, KIF21B
2microtubuleGO:00058748.9KIF21A, KIF21B, TUBB2B, TUBB3

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

idNameGO IDScoreTop Affiliating Genes
1microtubule-based processGO:000701710.0TUBB2B, TUBB3

Sources for Tukel Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet