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MCID: TKL001
MIFTS: 47

Tukel Syndrome

Categories: Rare diseases, Neuronal diseases, Eye diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes
Sources

Aliases & Classifications for Tukel Syndrome

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MalaCards integrated aliases for Tukel Syndrome:

Name: Tukel Syndrome 57 12 53 29 13 73
Congenital Fibrosis of the Extraocular Muscles 12 24 25 37 29 6 15 73
Congenital Fibrosis of Extraocular Muscles 53 25 59 29
Cfeom 24 25 55
Cfeom-U 57 53
Feom 53 59
Fibrosis of Extraocular Muscles, Congenital, with Ulnar Hand Anomalies 57
Congenital Extraocular Muscle Fibrosis with Ulnar Hand Anomalies 53
Fibrosis of Extraocular Muscles, Congenital, 4; Cfeom4 57
Congenital Fibrosis of the Extraocular Muscles 4 29
Fibrosis of Extraocular Muscles, Congenital, 4 57
Congenital External Ophthalmoplegia 25
Congenital Fibrosis Syndrome 25
General Fibrosis Syndrome 25
Cfeom4 57

Characteristics:

Orphanet epidemiological data:

59
congenital fibrosis of extraocular muscles
Inheritance: Autosomal dominant,Autosomal recessive,Not applicable;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
tukel syndrome:
Inheritance autosomal recessive inheritance


GeneReviews:

24
Penetrance Penetrance in cfeom1a, cfeom1b, cfeom2, cfeom3b, cfeom3c, and tukel syndrome is complete...

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Neuronal diseases Eye diseases
See all MalaCards categories (disease lists)
ICD10: 34
Orphanet: 59  
Rare neurological diseases
Rare eye diseases


External Ids:

OMIM 57 609428
Disease Ontology 12 DOID:0080143
Orphanet 59 ORPHA45358
ICD10 via Orphanet 34 H49.8
UMLS via Orphanet 74 C1302995
MedGen 42 C1836217
KEGG 37 H00838
Sources

Summaries for Tukel Syndrome

About this section
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 fibrosis of extraocular muscles, congenital, 2 and hypertropia, 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

Disease Ontology : 12 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.

NIH Rare Diseases : 53 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.

Description from OMIM: 609428
GeneReviews: NBK1348
Sources

Related Diseases for Tukel Syndrome

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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, 2 33.5 KIF21A PHOX2A
2 hypertropia 29.7 CHN1 KIF21A TUBB3
3 fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement 11.8
4 fibrosis of extraocular muscles, congenital, 1 11.0
5 fibrosis of extraocular muscles, congenital, with synergistic divergence 10.9
6 tubulinopathy-associated dysgyria 10.5 TUBB2B TUBB3
7 marcus gunn phenomenon 10.3 CHN1 TUBB3
8 neonatal anemia 10.3 TUBB2B TUBB3
9 enophthalmos 10.3 CHN1 TNNI3K
10 deafness, autosomal dominant 28 10.2 CHN1 KIF21A TUBB3
11 kearns-sayre syndrome 10.2 KIF21A PHOX2A TUBB3
12 peripheral nervous system disease 10.2 CHN1 KIF21A TUBB3
13 esotropia 10.1 CHN1 ROBO3 TUBB3
14 orbital disease 10.1 CHN1 TNNI3K
15 amblyopia 10.1 CHN1 TUBB3
16 facial paralysis 10.0 HOXB1 TNNI3K TUBB3
17 cranial nerve disease 10.0 CHN1 KIF21A PHOX2A TUBB3
18 tubulin, beta 9.9 TUBB2B TUBB3 TUBB6
19 facial nerve disease 9.9 HOXB1 KIF21A PHOX2A TUBB3
20 congenital ptosis 9.9 CHN1 KIF21A TNNI3K TUBB3
21 poland syndrome 9.8 CHN1 TUBB3
22 myopia 9.8
23 ptosis 9.7 KIF21A PHOX2A TUBB3 TUBB6
24 duane retraction syndrome 9.7 CHN1 HOXA1 KIF21A TUBB3
25 paralytic squint 9.6 CHN1 KIF21A PHOX2A TUBB2B TUBB3
26 strabismus 9.4 CHN1 HOXB1 KIF21A PHOX2A TUBB3
27 exotropia 9.2 CHN1 KIF21A PHOX2A ROBO3 TNNI3K TUBB3
28 ocular motility disease 9.2 CHN1 KIF21A PHOX2A ROBO3 TNNI3K TUBB3
29 hypotropia 9.0 APPL1 CHN1 KIF21A PHOX2A TUBB3

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



Diseases related to Tukel Syndrome
Sources

Symptoms & Phenotypes for Tukel Syndrome

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Symptoms via clinical synopsis from OMIM:

57
Head And Neck Head:
compensatory head tilt/chin elevation

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

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


Clinical features from OMIM:

609428

Human phenotypes related to Tukel Syndrome:

32 (show all 9)
# Description HPO Frequency HPO Source Accession
1 ptosis 32 HP:0000508
2 syndactyly 32 HP:0001159
3 compensatory chin elevation 32 HP:0001477
4 congenital fibrosis of extraocular muscles 32 HP:0001491
5 carpal bone aplasia 32 HP:0004231
6 postaxial oligodactyly 32 HP:0006210
7 nonprogressive restrictive external ophthalmoplegia 32 HP:0007831
8 restrictive external ophthalmoplegia 32 HP:0007936
9 carpal synostosis 32 HP:0009702

UMLS symptoms related to Tukel Syndrome:


ophthalmoplegia

MGI Mouse Phenotypes related to Tukel Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.61 APPL1 CHN1 HOXA1 HOXB1 PHOX2A ROBO3
2 respiratory system MP:0005388 9.1 HOXA1 HOXB1 PHOX2A ROBO3 TUBB2B TUBB3
Sources

Drugs & Therapeutics for Tukel Syndrome

About this section

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

Sources

Genetic Tests for Tukel Syndrome

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Genetic tests related to Tukel Syndrome:

# Genetic test Affiliating Genes
1 Congenital Fibrosis of the Extraocular Muscles 29
2 Congenital Fibrosis of the Extraocular Muscles 4 29
3 Tukel Syndrome 29
4 Congenital Fibrosis of Extraocular Muscles 29
Sources

Anatomical Context for Tukel Syndrome

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MalaCards organs/tissues related to Tukel Syndrome:

41
Eye, Bone, Brain
Sources

Publications for Tukel Syndrome

About this section

Articles related to Tukel Syndrome:

(show all 39)
# Title Authors Year
1
Clinical characteristics of a KIF21A mutation in a Chinese family with congenital fibrosis of the extraocular muscles type 1. ( 28930843 )
2017
2
Clinical heterogeneity associated with TUBB3 gene mutation in a Turkish family with congenital fibrosis of the extraocular muscles. ( 27428177 )
2016
3
KIF21A mutation in two Chinese families with congenital fibrosis of the extraocular muscles type 1 and 3. ( 27513105 )
2016
4
Brain Abnormalities in Congenital Fibrosis of the Extraocular Muscles Type 1: A Multimodal MRI Imaging Study. ( 26186732 )
2015
5
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
6
Retinal Dysfunction in Patients with Congenital Fibrosis of the Extraocular Muscles Type 2. ( 24940936 )
2014
7
Strabismus surgery in congenital fibrosis of the extraocular muscles: a paradigm. ( 25347047 )
2014
8
A novel de novo KIF21A mutation in a patient with congenital fibrosis of the extraocular muscles and MAPbius syndrome. ( 24715754 )
2014
9
Sclerosing cavernous hemangioma of the cavernous sinus mimicking congenital fibrosis of the extraocular muscles. ( 24751811 )
2014
10
Cerebellar atrophy in congenital fibrosis of the extraocular muscles type 1. ( 22699964 )
2013
11
Congenital fibrosis of the extraocular muscles: magnetic resonance imaging findings and surgical treatment. ( 23978146 )
2013
12
Dissociated vertical deviation in congenital fibrosis of the extraocular muscles. ( 22415008 )
2013
13
Spatiotemporal expression pattern of KIF21A during normal embryonic development and in congenital fibrosis of the extraocular muscles type 1 (CFEOM1). ( 22465342 )
2012
14
Surgically mismanaged ptosis in a patient with congenital fibrosis of the extraocular muscles type I. ( 23248547 )
2012
15
Lack of KIF21A mutations in congenital fibrosis of the extraocular muscles type I patients from consanguineous Saudi Arabian families. ( 21264235 )
2011
16
Unilateral congenital fibrosis of the extraocular muscles with lid retraction: surgical treatment with a silicon plate on the orbital floor. ( 21314337 )
2011
17
The optic nerve head in congenital fibrosis of the extraocular muscles. ( 21449832 )
2011
18
[Mutation analysis of KIF21A gene in a Chinese family with congenital fibrosis of the extraocular muscles type I]. ( 21983718 )
2011
19
Congenital fibrosis of the extraocular muscles. ( 21120060 )
2010
20
KIF21A mutations in two Chinese families with congenital fibrosis of the extraocular muscles (CFEOM). ( 21042561 )
2010
21
Germline Mosaicism for KIF21A Mutation (p.R954L) Mimicking Recessive Inheritance for Congenital Fibrosis of the Extraocular Muscles. ( 19896199 )
2010
22
Congenital fibrosis of the extraocular muscles. ( 21217899 )
2010
23
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
24
Congenital fibrosis of the extraocular muscles type 1, distinctive conjunctival changes and intrapapillary disc colobomata. ( 19373680 )
2009
25
Novel and recurrent KIF21A mutations in congenital fibrosis of the extraocular muscles type 1 and 3. ( 18332320 )
2008
26
Congenital fibrosis of the extraocular muscles. ( 18214786 )
2008
27
Congenital fibrosis of the extraocular muscles (CFEOM) syndrome associated with progressive cerebellar ataxia. ( 17551929 )
2007
28
Mutation p.Arg954Trp of KIF21A causes congenital fibrosis of the extraocular muscles in a Chinese family. ( 16939002 )
2006
29
A novel KIF21A mutation in a patient with congenital fibrosis of the extraocular muscles and Marcus Gunn jaw-winking phenomenon. ( 16157808 )
2005
30
Anterior uveitis and congenital fibrosis of the extraocular muscles in a patient with Noonan syndrome. ( 16388177 )
2005
31
Recurrent mutation of the KIF21A gene in Japanese patients with congenital fibrosis of the extraocular muscles. ( 16365788 )
2005
32
Mutation analysis of KIF21A in congenital fibrosis of the extraocular muscles (CFEOM) patients. ( 15621876 )
2004
33
Identification of KIF21A mutations as a rare cause of congenital fibrosis of the extraocular muscles type 3 (CFEOM3). ( 15223798 )
2004
34
Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1). ( 14595441 )
2003
35
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
36
Homozygous mutations in ARIX(PHOX2A) result in congenital fibrosis of the extraocular muscles type 2. ( 11600883 )
2001
37
Congenital fibrosis of the extraocular muscles type 2, an inherited exotropic strabismus fixus, maps to distal 11q13. ( 9683611 )
1998
38
Mapping a gene for congenital fibrosis of the extraocular muscles to the centromeric region of chromosome 12. ( 8075644 )
1994
39
Congenital Fibrosis of the Extraocular Muscles ( 20301522 )
1993
Sources

Variations for Tukel Syndrome

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ClinVar genetic disease variations for Tukel Syndrome:

6
(show top 50) (show all 166)
# Gene Variation Type Significance SNP ID Assembly Location
1 KIF21A NM_017641.3(KIF21A): c.-147C> A single nucleotide variant Uncertain significance rs886049348 GRCh37 Chromosome 12, 39836919: 39836919
2 KIF21A NM_017641.3(KIF21A): c.*707A> G single nucleotide variant Likely benign rs536139187 GRCh37 Chromosome 12, 39687519: 39687519
3 KIF21A NM_017641.3(KIF21A): c.*707A> G single nucleotide variant Likely benign rs536139187 GRCh38 Chromosome 12, 39293717: 39293717
4 KIF21A NM_017641.3(KIF21A): c.*690delT deletion Benign rs201147142 GRCh37 Chromosome 12, 39687536: 39687536
5 KIF21A NM_017641.3(KIF21A): c.*690delT deletion Benign rs201147142 GRCh38 Chromosome 12, 39293734: 39293734
6 KIF21A NM_017641.3(KIF21A): c.*418A> G single nucleotide variant Benign rs77242017 GRCh38 Chromosome 12, 39294006: 39294006
7 KIF21A NM_017641.3(KIF21A): c.*418A> G single nucleotide variant Benign rs77242017 GRCh37 Chromosome 12, 39687808: 39687808
8 KIF21A NM_017641.3(KIF21A): c.3302-5dupT duplication Likely benign rs71075059 GRCh37 Chromosome 12, 39720131: 39720131
9 KIF21A NM_017641.3(KIF21A): c.3302-5dupT duplication Likely benign rs71075059 GRCh38 Chromosome 12, 39326329: 39326329
10 KIF21A NM_017641.3(KIF21A): c.3293T> C (p.Val1098Ala) single nucleotide variant Likely benign rs150294289 GRCh38 Chromosome 12, 39330250: 39330250
11 KIF21A NM_017641.3(KIF21A): c.3293T> C (p.Val1098Ala) single nucleotide variant Likely benign rs150294289 GRCh37 Chromosome 12, 39724052: 39724052
12 KIF21A NM_017641.3(KIF21A): c.3072C> T (p.Ala1024=) single nucleotide variant Likely benign rs145404005 GRCh37 Chromosome 12, 39725534: 39725534
13 KIF21A NM_017641.3(KIF21A): c.3072C> T (p.Ala1024=) single nucleotide variant Likely benign rs145404005 GRCh38 Chromosome 12, 39331732: 39331732
14 KIF21A NM_017641.3(KIF21A): c.2743C> T (p.Arg915Cys) single nucleotide variant Uncertain significance rs749644826 GRCh37 Chromosome 12, 39726467: 39726467
15 KIF21A NM_017641.3(KIF21A): c.2743C> T (p.Arg915Cys) single nucleotide variant Uncertain significance rs749644826 GRCh38 Chromosome 12, 39332665: 39332665
16 KIF21A NM_017641.3(KIF21A): c.2502A> G (p.Lys834=) single nucleotide variant Likely benign rs145897823 GRCh37 Chromosome 12, 39726856: 39726856
17 KIF21A NM_017641.3(KIF21A): c.2502A> G (p.Lys834=) single nucleotide variant Likely benign rs145897823 GRCh38 Chromosome 12, 39333054: 39333054
18 KIF21A NM_017641.3(KIF21A): c.1628A> G (p.Lys543Arg) single nucleotide variant Likely benign rs149219011 GRCh37 Chromosome 12, 39745624: 39745624
19 KIF21A NM_017641.3(KIF21A): c.1628A> G (p.Lys543Arg) single nucleotide variant Likely benign rs149219011 GRCh38 Chromosome 12, 39351822: 39351822
20 KIF21A NM_017641.3(KIF21A): c.1542G> A (p.Ala514=) single nucleotide variant Uncertain significance rs199973182 GRCh37 Chromosome 12, 39745710: 39745710
21 KIF21A NM_017641.3(KIF21A): c.1542G> A (p.Ala514=) single nucleotide variant Uncertain significance rs199973182 GRCh38 Chromosome 12, 39351908: 39351908
22 KIF21A NM_017641.3(KIF21A): c.1160A> G (p.Asn387Ser) single nucleotide variant Uncertain significance rs745692702 GRCh38 Chromosome 12, 39358233: 39358233
23 KIF21A NM_017641.3(KIF21A): c.1160A> G (p.Asn387Ser) single nucleotide variant Uncertain significance rs745692702 GRCh37 Chromosome 12, 39752035: 39752035
24 KIF21A NM_017641.3(KIF21A): c.-19A> G single nucleotide variant Likely benign rs139423015 GRCh38 Chromosome 12, 39442989: 39442989
25 KIF21A NM_017641.3(KIF21A): c.-19A> G single nucleotide variant Likely benign rs139423015 GRCh37 Chromosome 12, 39836791: 39836791
26 KIF21A NM_017641.3(KIF21A): c.-147C> A single nucleotide variant Uncertain significance rs886049348 GRCh38 Chromosome 12, 39443117: 39443117
27 KIF21A NM_017641.3(KIF21A): c.-203C> G single nucleotide variant Uncertain significance rs886049349 GRCh38 Chromosome 12, 39443173: 39443173
28 KIF21A NM_017641.3(KIF21A): c.-203C> G single nucleotide variant Uncertain significance rs886049349 GRCh37 Chromosome 12, 39836975: 39836975
29 KIF21A NM_017641.3(KIF21A): c.-245C> T single nucleotide variant Uncertain significance rs886049350 GRCh38 Chromosome 12, 39443215: 39443215
30 KIF21A NM_017641.3(KIF21A): c.-245C> T single nucleotide variant Uncertain significance rs886049350 GRCh37 Chromosome 12, 39837017: 39837017
31 KIF21A NM_017641.3(KIF21A): c.-313G> A single nucleotide variant Benign rs11835359 GRCh38 Chromosome 12, 39443283: 39443283
32 KIF21A NM_017641.3(KIF21A): c.-313G> A single nucleotide variant Benign rs11835359 GRCh37 Chromosome 12, 39837085: 39837085
33 KIF21A NM_017641.3(KIF21A): c.-335C> G single nucleotide variant Uncertain significance rs886049351 GRCh38 Chromosome 12, 39443305: 39443305
34 KIF21A NM_017641.3(KIF21A): c.-335C> G single nucleotide variant Uncertain significance rs886049351 GRCh37 Chromosome 12, 39837107: 39837107
35 KIF21A NM_017641.3(KIF21A): c.-339C> A single nucleotide variant Uncertain significance rs886049352 GRCh37 Chromosome 12, 39837111: 39837111
36 KIF21A NM_017641.3(KIF21A): c.-339C> A single nucleotide variant Uncertain significance rs886049352 GRCh38 Chromosome 12, 39443309: 39443309
37 KIF21A NM_017641.3(KIF21A): c.-345G> A single nucleotide variant Uncertain significance rs886049353 GRCh37 Chromosome 12, 39837117: 39837117
38 KIF21A NM_017641.3(KIF21A): c.-345G> A single nucleotide variant Uncertain significance rs886049353 GRCh38 Chromosome 12, 39443315: 39443315
39 KIF21A NM_017641.3(KIF21A): c.*1010T> C single nucleotide variant Uncertain significance rs886049332 GRCh37 Chromosome 12, 39687216: 39687216
40 KIF21A NM_017641.3(KIF21A): c.*1010T> C single nucleotide variant Uncertain significance rs886049332 GRCh38 Chromosome 12, 39293414: 39293414
41 KIF21A NM_017641.3(KIF21A): c.*812T> C single nucleotide variant Likely benign rs532231850 GRCh37 Chromosome 12, 39687414: 39687414
42 KIF21A NM_017641.3(KIF21A): c.*812T> C single nucleotide variant Likely benign rs532231850 GRCh38 Chromosome 12, 39293612: 39293612
43 KIF21A NM_017641.3(KIF21A): c.*472A> G single nucleotide variant Benign rs11171674 GRCh37 Chromosome 12, 39687754: 39687754
44 KIF21A NM_017641.3(KIF21A): c.*472A> G single nucleotide variant Benign rs11171674 GRCh38 Chromosome 12, 39293952: 39293952
45 KIF21A NM_017641.3(KIF21A): c.1841G> T (p.Gly614Val) single nucleotide variant Likely benign rs79089655 GRCh38 Chromosome 12, 39341546: 39341546
46 KIF21A NM_017641.3(KIF21A): c.*451A> G single nucleotide variant Likely benign rs183559712 GRCh37 Chromosome 12, 39687775: 39687775
47 KIF21A NM_017641.3(KIF21A): c.*451A> G single nucleotide variant Likely benign rs183559712 GRCh38 Chromosome 12, 39293973: 39293973
48 KIF21A NM_017641.3(KIF21A): c.*447A> G single nucleotide variant Likely benign rs74088336 GRCh38 Chromosome 12, 39293977: 39293977
49 KIF21A NM_017641.3(KIF21A): c.*447A> G single nucleotide variant Likely benign rs74088336 GRCh37 Chromosome 12, 39687779: 39687779
50 KIF21A NM_017641.3(KIF21A): c.4497T> C (p.Thr1499=) single nucleotide variant Likely benign rs144103791 GRCh38 Chromosome 12, 39304845: 39304845
Sources

Expression for Tukel Syndrome

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Search GEO for disease gene expression data for Tukel Syndrome.
Sources

Pathways for Tukel Syndrome

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Pathways related to Tukel Syndrome according to KEGG:

37
# 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
Chaperonin-mediated protein folding 66
Show member pathways
 12.04 TUBB2B TUBB3 TUBB6
2
EphB-EphrinB Signaling 64
Show member pathways
 12.01 TUBB2B TUBB3 TUBB6
3
Development Slit-Robo signaling 22
Show member pathways
 11.95 ROBO3 TUBB2B TUBB3 TUBB6
4
Regulation of CFTR activity (norm and CF) 22
Show member pathways
 11.83 TUBB2B TUBB3 TUBB6
5
Phagosome 37
11.76 TUBB2B TUBB3 TUBB6
6
Proteolysis Role of Parkin in the Ubiquitin-Proteasomal Pathway 22
Show member pathways
 11.7 TUBB2B TUBB3 TUBB6
7
Cooperation of Prefoldin and TriC/CCT in actin and tubulin folding 66
Show member pathways
 11.58 TUBB2B TUBB3 TUBB6
8
Cytoskeleton remodeling Neurofilaments 22
Show member pathways
 11.47 TUBB2B TUBB3 TUBB6
9
Cell cycle_Spindle assembly and chromosome separation 22
11.11 TUBB2B TUBB3 TUBB6
10
Gap junction 37
10.74 TUBB2B TUBB3 TUBB6
Sources

GO Terms for Tukel Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 microtubule GO:0005874 8.92 KIF21A TUBB2B TUBB3 TUBB6

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

# Name GO ID Score Top Affiliating Genes
1 cytoskeleton organization GO:0007010 9.43 TUBB2B TUBB3 TUBB6
2 mitotic cell cycle GO:0000278 9.33 TUBB2B TUBB3 TUBB6
3 microtubule-based process GO:0007017 9.13 TUBB2B TUBB3 TUBB6
4 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

Sources for Tukel Syndrome

About this section
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
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
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
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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