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 51 11 47 24 26 12 67
Congenital Fibrosis of the Extraocular Muscles 11 23 24 25 13 67
Cfeom 23 24 25 49
Congenital Fibrosis of Extraocular Muscles 47 25 53
Congenital Fibrosis of the Extraocular Muscles 4 24 26
Fibrosis of Extraocular Muscles, Congenital 24 26
Feom 47 53
 
Congenital Extraocular Muscle Fibrosis with Ulnar Hand Anomalies 47
Congenital External Ophthalmoplegia 25
Congenital Fibrosis Syndrome 25
General Fibrosis Syndrome 25
Cfeom 4 24
Cfeom-U 47
Cfeom4 24

Characteristics:

Orphanet epidemiological data:

53
congenital fibrosis of extraocular muscles:
Inheritance: Autosomal dominant,Autosomal recessive,Not applicable

HPO:

63
tukel syndrome:
Inheritance: autosomal recessive inheritance

GeneReviews:

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


Classifications:



External Ids:

OMIM51 609428
Disease Ontology11 DOID:0080143
Orphanet53 ORPHA45358
ICD10 via Orphanet30 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:51 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 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:

 63 (show all 9)
id Description HPO Frequency HPO Source Accession
1 ptosis63 HP:0000508
2 syndactyly63 HP:0001159
3 compensatory chin elevation63 HP:0001477
4 congenital fibrosis of extraocular muscles63 HP:0001491
5 carpal bone aplasia63 HP:0004231
6 postaxial oligodactyly63 HP:0006210
7 nonprogressive restrictive external ophthalmoplegia63 HP:0007831
8 restrictive external ophthalmoplegia63 HP:0007936
9 carpal synostosis63 HP:0009702

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 426 24
2 Congenital Fibrosis of the Extraocular Muscles26 24 TUBB3
3 Tukel Syndrome26 24
4 Congenital Fibrosis of Extraocular Muscles26

Anatomical Context for Tukel Syndrome

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MalaCards organs/tissues related to Tukel Syndrome:

35
Eye, Bone

Animal Models for Tukel Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Tukel Syndrome:

40
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

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:00058719.8KIF21A, 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
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet