MCID: TKL001
MIFTS: 26

Tukel Syndrome

Categories: Eye diseases, Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Tukel Syndrome

MalaCards integrated aliases for Tukel Syndrome:

Name: Tukel Syndrome 57 11 19 28 12 43 14 71
Congenital Fibrosis of the Extraocular Muscles 4 11 28
Cfeom-U 57 19
Fibrosis of Extraocular Muscles, Congenital, with Ulnar Hand Anomalies 57
Congenital Extraocular Muscle Fibrosis with Ulnar Hand Anomalies 19
Fibrosis of Extraocular Muscles, Congenital, 4 57
Congenital Fibrosis of the Extraocular Muscles 71
Cfeom4 57

Characteristics:


Inheritance:

Autosomal recessive 57

Classifications:



External Ids:

Disease Ontology 11 DOID:0081021
OMIM® 57 609428
OMIM Phenotypic Series 57 PS135700
MeSH 43 C536925
MedGen 40 C1836217
UMLS 71 C1302995 C1836217

Summaries for Tukel Syndrome

GARD: 19 Congenital fibrosis of the extraocular muscles (CFEOM) refers to at least eight genetically defined strabismus syndromes (CFEOM1A, CFEOM1B, CFEOM2, CFEOM3A, CFEOM3B, CFEOM3C, Tukel syndrome, and CFEOM3 with polymicrogyria) characterized by congenital non-progressive ophthalmoplegia (inability to move the eyes) with or without ptosis (droopy eyelids) affecting part or all of the oculomotor nucleus and nerve (cranial nerve III) and its innervated muscles (superior, medial, and inferior recti, inferior oblique, and levator palpabrae superioris) and/or the trochlear nucleus and nerve (cranial nerve IV) and its innervated muscle (the superior oblique). In general, affected individuals have severe limitation of vertical gaze (usually upgaze) and variable limitation of horizontal gaze. Individuals with CFEOM frequently compensate for the ophthalmoplegia by maintaining abnormal head positions at rest and by moving their heads rather than their eyes to track objects. Individuals with CFEOM3A may also have intellectual disability, social disability, Kallmann syndrome, facial weakness, and vocal cord paralysis; and/or may develop a progressive sensorimotor axonal polyneuropathy. Individuals with Tukel syndrome also have postaxial oligodactyly or oligosyndactyly of the hands. Those with CFEOM3 with polymicrogyria also have microcephaly and intellectual disability.

MalaCards based summary: Tukel Syndrome, also known as congenital fibrosis of the extraocular muscles 4, is related to fibrosis of extraocular muscles, congenital, 1 and congenital fibrosis of the extraocular muscles, and has symptoms including ophthalmoplegia An important gene associated with Tukel Syndrome is TUKLS (Tukel Syndrome). Affiliated tissues include eye and bone, and related phenotypes are ptosis and carpal synostosis

Disease Ontology: 11 A congenital fibrosis of the extraocular muscles that is characterized by nonprogressive restrictive ophthalmoplegia with blepharoptosis of the right eye and postaxial oligodactyly/oligosyndactyly of the hands, with the right more severely affected than the left.

More information from OMIM: 609428 PS135700

Related Diseases for Tukel Syndrome

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

(show all 29)
# Related Disease Score Top Affiliating Genes
1 fibrosis of extraocular muscles, congenital, 1 31.3 PHOX2A KIF21A COL25A1
2 congenital fibrosis of the extraocular muscles 30.8 TUBB2B PHOX2A KIF21A COL25A1
3 ptosis 30.2 PHOX2A KIF21A COL25A1
4 kearns-sayre syndrome 30.1 PHOX2A KIF21A
5 myotonic cataract 10.0 PHOX2A KIF21A
6 marcus gunn phenomenon 10.0 PHOX2A KIF21A
7 fibrosis of extraocular muscles, congenital, 2 10.0 PHOX2A KIF21A
8 hypotropia 10.0 PHOX2A KIF21A
9 moebius syndrome 10.0 PHOX2A KIF21A
10 duane-radial ray syndrome 10.0 PHOX2A KIF21A
11 exotropia 10.0 PHOX2A KIF21A
12 amblyopia 9.9 PHOX2A KIF21A
13 fourth cranial nerve palsy 9.9 TUBB2B KIF21A
14 cranial nerve disease 9.9 PHOX2A KIF21A
15 refractive error 9.9 PHOX2A KIF21A
16 keratitis, hereditary 9.8 PHOX2A KIF21A
17 autosomal recessive congenital cerebellar ataxia 9.8 CA8 ATP8A2
18 barber-say syndrome 9.8 CA8 ATP8A2
19 paralytic squint 9.7 TUBB2B PHOX2A KIF21A
20 microphthalmia, isolated 5 9.7 TUBB2B PHOX2A KIF21A
21 partial third-nerve palsy 9.7 TUBB2B PHOX2A KIF21A
22 cenani-lenz syndactyly syndrome 9.7 CA8 ATP8A2
23 esotropia 9.7 TUBB2B PHOX2A KIF21A
24 ocular motility disease 9.7 TUBB2B PHOX2A KIF21A
25 strabismus 9.7 TUBB2B PHOX2A KIF21A
26 hypertropia 9.5 TUBB2B PHOX2A KIF21A COL25A1
27 cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 9.5 TUBB2B CA8 ATP8A2
28 congenital ptosis 9.5 TUBB2B PHOX2A KIF21A COL25A1
29 duane retraction syndrome 9.2 TUBB2B PHOX2A KIF21A COL25A1 CA8

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:

30 (show all 9)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ptosis 30 HP:0000508
2 carpal synostosis 30 HP:0009702
3 postaxial oligodactyly 30 HP:0006210
4 syndactyly 30 HP:0001159
5 congenital fibrosis of extraocular muscles 30 HP:0001491
6 compensatory chin elevation 30 HP:0001477
7 restrictive external ophthalmoplegia 30 HP:0007936
8 carpal bone aplasia 30 HP:0004231
9 nonprogressive restrictive external ophthalmoplegia 30 HP:0007831

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
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 (Updated 08-Dec-2022)

UMLS symptoms related to Tukel Syndrome:


ophthalmoplegia

MGI Mouse Phenotypes related to Tukel Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.1 ATP8A2 CA8 COL25A1 KIF21A PHOX2A TUBB2B

Drugs & Therapeutics for Tukel Syndrome

Search Clinical Trials, NIH Clinical Center for Tukel Syndrome

Cochrane evidence based reviews: 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 28
2 Tukel Syndrome 28

Anatomical Context for Tukel Syndrome

Organs/tissues related to Tukel Syndrome:

MalaCards : Eye, Bone

Publications for Tukel Syndrome

Articles related to Tukel Syndrome:

# Title Authors PMID Year
1
A new syndrome, congenital extraocular muscle fibrosis with ulnar hand anomalies, maps to chromosome 21qter. 62 57
15863670 2005

Variations for Tukel Syndrome

Expression for Tukel Syndrome

Search GEO for disease gene expression data for Tukel Syndrome.

Pathways for Tukel Syndrome

GO Terms for Tukel Syndrome

Sources for Tukel Syndrome

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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