MCLMR
MCID: MCR216
MIFTS: 46

Microcephaly with or Without Chorioretinopathy, Lymphedema, or Mental Retardation (MCLMR)

Categories: Cardiovascular diseases, Eye diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Microcephaly with or Without Chorioretinopathy, Lymphedema, or...

MalaCards integrated aliases for Microcephaly with or Without Chorioretinopathy, Lymphedema, or Mental Retardation:

Name: Microcephaly with or Without Chorioretinopathy, Lymphedema, or Mental Retardation 56 12 73 36 29 13 6 15
Lymphedema, Microcephaly and Chorioretinopathy Syndrome 12 52 43 71
Chorioretinal Dysplasia-Microcephaly-Mental Retardation Syndrome 12 52 71
Lymphedema and Retinal Folds with Microcephaly and Microphthalmos 56 73
Microcephaly, Lymphedema, Chorioretinal Dysplasia Syndrome 56 12
Microcephaly Lymphedema Chorioretinal Dysplasia 12 52
Mlcrd Syndrome 56 73
Cdmmr Syndrome 56 73
Mclmr 56 73
Microcephaly and Chorioretinopathy with or Without Mental Retardation, Autosomal Dominant 56
Autosomal Dominant Microcephaly and Chorioretinopathy with or Without Mental Retardation 73
Microcephaly with/without Chorioretinopathy, Lymphedema, or Mental Retardation 39
Lymphedema and Retinal Folds with Ficrocephaly and Microphthalmos 12
Microcephaly Lymphedema Chorioretinal Dysplasia Syndrome 73
Lymphedema, Microcephaly, Chorioretinopathy Syndrome 56
Microcephaly-Lymphedema-Chorioretinopathy Syndrome 58
Lymphedema Microcephaly Chorioretinopathy Syndrome 73
Mlcrd 58

Characteristics:

Orphanet epidemiological data:

58
microcephaly-lymphedema-chorioretinopathy syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

56
Miscellaneous:
variable expressivity
reduced penetrance
syndromic manifestations may be subtle in patients ascertained for ocular anomalies
progression of retinal atrophy (in some patients)

Inheritance:
autosomal dominant


HPO:

31
microcephaly with or without chorioretinopathy, lymphedema, or mental retardation:
Inheritance autosomal dominant inheritance
Onset and clinical course variable expressivity incomplete penetrance


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Rare circulatory system diseases
Rare skin diseases
Developmental anomalies during embryogenesis


Summaries for Microcephaly with or Without Chorioretinopathy, Lymphedema, or...

OMIM : 56 Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation is an autosomal dominant disorder that involves an overlapping but variable spectrum of central nervous system and ocular developmental anomalies. Microcephaly ranges from mild to severe and is often associated with mild to moderate developmental delay and a characteristic facial phenotype with upslanting palpebral fissures, broad nose with rounded tip, long philtrum with thin upper lip, prominent chin, and prominent ears. Chorioretinopathy is the most common eye abnormality, but retinal folds, microphthalmia, and myopic and hypermetropic astigmatism have also been reported, and some individuals have no overt ocular phenotype. Congenital lymphedema, when present, is typically confined to the dorsa of the feet, and lymphoscintigraphy reveals the absence of radioactive isotope uptake from the webspaces between the toes (summary by Ostergaard et al., 2012). Robitaille et al. (2014) found that MCLMR includes a broader spectrum of ocular disease, including retinal detachment with avascularity of the peripheral retina, and noted phenotypic overlap with familial exudative vitreoretinopathy (FEVR; see EVR1, 133780). Birtel et al. (2017) observed intrafamilial and intraindividual variability in retinal phenotype, and noted that syndromic manifestations in some patients are too subtle to be detected during a routine ophthalmologic evaluation. Variable expressivity and reduced penetrance have also been observed in some families (Jones et al., 2014; Li et al., 2016). Autosomal recessive forms of microcephaly with chorioretinopathy have been reported (see 251270). See also Mirhosseini-Holmes-Walton syndrome (autosomal recessive microcephaly with pigmentary retinopathy and mental retardation; 268050), which has been mapped to chromosome 8q21.3-q22.1. (152950)

MalaCards based summary : Microcephaly with or Without Chorioretinopathy, Lymphedema, or Mental Retardation, also known as lymphedema, microcephaly and chorioretinopathy syndrome, is related to microcephaly and microcephaly and chorioretinopathy, autosomal recessive, 1. An important gene associated with Microcephaly with or Without Chorioretinopathy, Lymphedema, or Mental Retardation is KIF11 (Kinesin Family Member 11), and among its related pathways/superpathways is MHC class II antigen presentation. Affiliated tissues include eye, retina and skin, and related phenotypes are microcephaly and lymphedema

Disease Ontology : 12 A syndrome characterized byvariable expression of microcephaly, ocular disorders including chorioretinopathy, congenital lymphedema of the lower limbs, and mild to moderate intellectual disability.

KEGG : 36 Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation (MCLMR) is a rare autosomal dominant or sporadic condition characterised by variable expression of microcephaly, eye problems including chorioretinopathy, congenital lymphoedema of the lower limbs, and mild-to-moderate intellectual disability. Historically, MCLMR was divided into two distinct entities: microcephaly, lymphedema, chorioretinal dysplasia (MLCRD) syndrome, and chorioretinal dysplasia, microcephaly, and mental retardation (CDMMR) syndrome. Recently, heterozygous mutations in KIF11, a gene encoding a critical spindle motor protein of the Kinesin family, have been reported in individuals with MLCRD, and in individuals with CDMMR. This finding is suggestive of a single clinically variable spectrum.

UniProtKB/Swiss-Prot : 73 Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation: An autosomal dominant disorder that involves an overlapping but variable spectrum of central nervous system and ocular developmental anomalies. Microcephaly ranges from mild to severe and is often associated with mild to moderate developmental delay and a characteristic facial phenotype with upslanting palpebral fissures, broad nose with rounded tip, long philtrum with thin upper lip, prominent chin, and prominent ears. Chorioretinopathy is the most common eye abnormality, but retinal folds, microphthalmia, and myopic and hypermetropic astigmatism have also been reported, and some individuals have no overt ocular phenotype. Congenital lymphedema, when present, is typically confined to the dorsa of the feet, and lymphoscintigraphy reveals the absence of radioactive isotope uptake from the webspaces between the toes.

Related Diseases for Microcephaly with or Without Chorioretinopathy, Lymphedema, or...

Diseases related to Microcephaly with or Without Chorioretinopathy, Lymphedema, or Mental Retardation via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 32)
# Related Disease Score Top Affiliating Genes
1 microcephaly 29.1 RTTN KIF11 ASPM ADGRG1
2 microcephaly and chorioretinopathy, autosomal recessive, 1 11.8
3 exudative vitreoretinopathy 1 11.3
4 alacrima, achalasia, and mental retardation syndrome 10.4
5 hereditary lymphedema i 10.4
6 microphthalmia 10.3
7 hypertonia 10.3
8 optic nerve hypoplasia, bilateral 10.2
9 persistent hyperplastic primary vitreous, autosomal recessive 10.2
10 congenital toxoplasmosis 10.2
11 pathologic nystagmus 10.2
12 toxoplasmosis 10.2
13 lymphatic malformation 1 10.1
14 retinal detachment 10.1
15 digeorge syndrome 10.1
16 ventricular septal defect 10.1
17 heart septal defect 10.1
18 congenital lymphedema 10.1
19 posttransplant acute limbic encephalitis 10.1
20 microcephaly, autosomal dominant 9.9 KIF11 ASPM
21 microcephaly 7, primary, autosomal recessive 9.9 RTTN ASPM
22 microcephaly 3, primary, autosomal recessive 9.9 RTTN ASPM
23 microcephaly 5, primary, autosomal recessive 9.9 RTTN ASPM
24 microcephaly 2, primary, autosomal recessive, with or without cortical malformations 9.8 RTTN ASPM
25 isolated growth hormone deficiency, type ia 9.7 RTTN ASPM
26 polymicrogyria 9.7 RTTN ADGRG1
27 primary microcephaly 9.6 RTTN ASPM
28 band heterotopia 9.5 ASPM ADGRG1
29 seckel syndrome 9.5 RTTN ASPM
30 congenital nervous system abnormality 9.4 ASPM ADGRG1
31 periventricular nodular heterotopia 9.3 RTTN ASPM ADGRG1
32 primary autosomal recessive microcephaly 9.0 RTTN KIF11 ASPM ADGRG1

Graphical network of the top 20 diseases related to Microcephaly with or Without Chorioretinopathy, Lymphedema, or Mental Retardation:



Diseases related to Microcephaly with or Without Chorioretinopathy, Lymphedema, or Mental Retardation

Symptoms & Phenotypes for Microcephaly with or Without Chorioretinopathy, Lymphedema, or...

Human phenotypes related to Microcephaly with or Without Chorioretinopathy, Lymphedema, or Mental Retardation:

58 31 (show top 50) (show all 93)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 microcephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000252
2 lymphedema 58 31 hallmark (90%) Very frequent (99-80%) HP:0001004
3 intellectual disability 58 31 frequent (33%) Frequent (79-30%) HP:0001249
4 global developmental delay 58 31 frequent (33%) Frequent (79-30%) HP:0001263
5 muscular hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0001252
6 abnormality of retinal pigmentation 58 31 frequent (33%) Frequent (79-30%) HP:0007703
7 specific learning disability 58 31 frequent (33%) Frequent (79-30%) HP:0001328
8 myopia 58 31 occasional (7.5%) Frequent (79-30%) HP:0000545
9 melanonychia 58 31 frequent (33%) Frequent (79-30%) HP:0100644
10 abnormal toenail morphology 58 31 frequent (33%) Frequent (79-30%) HP:0008388
11 leukonychia 58 31 frequent (33%) Frequent (79-30%) HP:0001820
12 cataract 58 31 occasional (7.5%) Occasional (29-5%) HP:0000518
13 wide nasal bridge 58 31 occasional (7.5%) Occasional (29-5%) HP:0000431
14 thick vermilion border 58 31 occasional (7.5%) Occasional (29-5%) HP:0012471
15 anteverted nares 58 31 occasional (7.5%) Occasional (29-5%) HP:0000463
16 optic atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0000648
17 blindness 58 31 occasional (7.5%) Occasional (29-5%) HP:0000618
18 retinopathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0000488
19 spasticity 58 31 occasional (7.5%) Occasional (29-5%) HP:0001257
20 full cheeks 58 31 occasional (7.5%) Occasional (29-5%) HP:0000293
21 dry skin 58 31 occasional (7.5%) Occasional (29-5%) HP:0000958
22 subcutaneous nodule 58 31 occasional (7.5%) Occasional (29-5%) HP:0001482
23 skin ulcer 58 31 occasional (7.5%) Occasional (29-5%) HP:0200042
24 thickened skin 58 31 occasional (7.5%) Occasional (29-5%) HP:0001072
25 gangrene 58 31 occasional (7.5%) Occasional (29-5%) HP:0100758
26 epicanthus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000286
27 ptosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000508
28 atrial septal defect 58 31 occasional (7.5%) Occasional (29-5%) HP:0001631
29 venous thrombosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0004936
30 muscle stiffness 58 31 occasional (7.5%) Occasional (29-5%) HP:0003552
31 glaucoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0000501
32 retinal detachment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000541
33 upslanted palpebral fissure 58 31 occasional (7.5%) Occasional (29-5%) HP:0000582
34 anophthalmia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000528
35 microphthalmia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000568
36 long philtrum 58 31 occasional (7.5%) Occasional (29-5%) HP:0000343
37 protruding ear 58 31 occasional (7.5%) Occasional (29-5%) HP:0000411
38 amblyopia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000646
39 chorioretinal dysplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0007731
40 leukemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001909
41 lymphoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0002665
42 cellulitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0100658
43 pointed chin 58 31 occasional (7.5%) Occasional (29-5%) HP:0000307
44 underdeveloped supraorbital ridges 58 31 occasional (7.5%) Occasional (29-5%) HP:0009891
45 wide nose 58 31 occasional (7.5%) Occasional (29-5%) HP:0000445
46 sloping forehead 58 31 occasional (7.5%) Occasional (29-5%) HP:0000340
47 rigidity 58 31 occasional (7.5%) Occasional (29-5%) HP:0002063
48 status epilepticus 58 31 occasional (7.5%) Occasional (29-5%) HP:0002133
49 severe short stature 58 31 occasional (7.5%) Occasional (29-5%) HP:0003510
50 retinal dystrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0000556

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
cataract
corneal opacity
nystagmus
myopia
microphthalmia
more
Head And Neck Face:
long philtrum
prominent philtrum
sloping forehead (in some patients)
bulging forehead (rare)
prominent chin

Neurologic Central Nervous System:
simplified gyral pattern
mental retardation, mild to moderate
normal intelligence (in some patients)
seizures (uncommon)

Head And Neck Ears:
prominent ears

Neurologic Behavioral Psychiatric Manifestations:
attention deficit hyperactivity disorder (uncommon)
agitation (rare)
aggression (rare)
sleep disturbances (rare)

Head And Neck Nose:
anteverted nares
flat, nasal bridge
broad, large nasal tip

Head And Neck Head:
flat occiput
microcephaly (-6 s.d.)

Head And Neck Mouth:
thin upper lip
prominent, full lip (in some patients)

Muscle Soft Tissue:
lymphedema, dorsa of feet
lymphedema, lower extremities
lymphedema, hands (rare)

Clinical features from OMIM:

152950

MGI Mouse Phenotypes related to Microcephaly with or Without Chorioretinopathy, Lymphedema, or Mental Retardation:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.43 ASPM ERCC8 KIF11 KIF1A RTTN SPTBN2
2 nervous system MP:0003631 9.1 ADGRG1 ASPM ERCC8 KIF1A RTTN SPTBN2

Drugs & Therapeutics for Microcephaly with or Without Chorioretinopathy, Lymphedema, or...

Search Clinical Trials , NIH Clinical Center for Microcephaly with or Without Chorioretinopathy, Lymphedema, or Mental Retardation

Cochrane evidence based reviews: lymphedema, microcephaly and chorioretinopathy syndrome

Genetic Tests for Microcephaly with or Without Chorioretinopathy, Lymphedema, or...

Genetic tests related to Microcephaly with or Without Chorioretinopathy, Lymphedema, or Mental Retardation:

# Genetic test Affiliating Genes
1 Microcephaly with or Without Chorioretinopathy, Lymphedema, or Mental Retardation 29 KIF11

Anatomical Context for Microcephaly with or Without Chorioretinopathy, Lymphedema, or...

MalaCards organs/tissues related to Microcephaly with or Without Chorioretinopathy, Lymphedema, or Mental Retardation:

40
Eye, Retina, Skin

Publications for Microcephaly with or Without Chorioretinopathy, Lymphedema, or...

Articles related to Microcephaly with or Without Chorioretinopathy, Lymphedema, or Mental Retardation:

(show all 32)
# Title Authors PMID Year
1
KIF11 mutations are a common cause of autosomal dominant familial exudative vitreoretinopathy. 6 56
26472404 2016
2
Phenotypic overlap between familial exudative vitreoretinopathy and microcephaly, lymphedema, and chorioretinal dysplasia caused by KIF11 mutations. 56 6
25124931 2014
3
Congenital microcephaly and chorioretinopathy due to de novo heterozygous KIF11 mutations: five novel mutations and review of the literature. 56 6
25115524 2014
4
Mutations in KIF11 cause autosomal-dominant microcephaly variably associated with congenital lymphedema and chorioretinopathy. 56 6
22284827 2012
5
Microcephaly-lymphoedema-chorioretinal dysplasia: three cases to delineate the facial phenotype and review of the literature. 6 56
15930898 2005
6
Identification of novel KIF11 mutations in patients with familial exudative vitreoretinopathy and a phenotypic analysis. 61 56
27212378 2016
7
Novel Insights Into the Phenotypical Spectrum of KIF11-Associated Retinopathy, Including a New Form of Retinal Ciliopathy. 56
28785766 2017
8
Mutations in LRP5,FZD4, TSPAN12, NDP, ZNF408, or KIF11 Genes Account for 38.7% of Chinese Patients With Familial Exudative Vitreoretinopathy. 56
28494495 2017
9
Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation (MCLMR): review of phenotype associated with KIF11 mutations. 56
24281367 2014
10
Microcephaly with chorioretinal dysplasia: characteristic facial features. 56
11146476 2000
11
Microcephaly-lymphedema-chorioretinal dysplasia: a unique genetic syndrome with variable expression and possible characteristic facial appearance. 56
10482868 1999
12
Microcephaly-lymphedema syndrome: report of a family with short stature as additional manifestation. 56
9880217 1998
13
The microcephaly-lymphoedema syndrome: report of an additional family. 56
8867659 1996
14
Chorioretinal dysplasia-microcephaly-mental retardation syndrome: another family with autosomal dominant inheritance. 56
8831130 1996
15
On the nosology of the "primary true microcephaly, chorioretinal dysplasia, lymphoedema" association. 56
8556819 1995
16
Microcephaly, lymphedema, and chorioretinal dysplasia: report of two additional cases. 56
7856652 1994
17
Chorioretinal dysplasia-microcephaly-mental retardation syndrome. 56
7977454 1994
18
Chorioretinal dysplasia-microcephaly-mental retardation syndrome: report of an American family. 56
8368255 1993
19
Microcephaly, lymphedema, and chorioretinal dysplasia: a distinct syndrome? 56
1415329 1992
20
Electroretinograms in microcephaly with chorioretinal degeneration. 56
2330949 1990
21
Microcephaly, microphthalmos, and retinal folds: report of a family. 56
3573001 1987
22
Dominantly inherited syndrome of microcephaly and congenital lymphedema with normal intelligence. 56
3812569 1987
23
On congenital lymphedema. 56
3706401 1986
24
A genetic association between microcephaly and lymphedema. 56
3706402 1986
25
Dominantly inherited syndrome of microcephaly and congenital lymphedema. 56
4017282 1985
26
Chorio-retinal dysplasia, microcephaly and mental retardation. An autosomal dominant syndrome. 56
7333029 1981
27
Microcephaly, microphthalmia, falciform retinal folds, and blindness. A new syndrome. 56
7293993 1981
28
["True" microcephaly with dominant-inheritance chorioretinal dysplasia]. 56
6967291 1980
29
Chorioretinopathy with hereditary microcephaly. 56
5936364 1966
30
Genetic analysis of undiagnosed ataxia-telangiectasia-like disorders. 61
30301590 2019
31
A Novel Mutation of KIF11 in a Child with 22q11.2 Deletion Syndrome Associated with MCLMR. 61
30733662 2019
32
No evidence of locus heterogeneity in familial microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome. 61
25934493 2015

Variations for Microcephaly with or Without Chorioretinopathy, Lymphedema, or...

ClinVar genetic disease variations for Microcephaly with or Without Chorioretinopathy, Lymphedema, or Mental Retardation:

6 (show all 34) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 KIF11 NM_004523.4(KIF11):c.247C>T (p.Arg83Ter)SNV Pathogenic 424002 rs1064796738 10:94366412-94366412 10:92606655-92606655
2 KIF11 NM_004523.4(KIF11):c.112del (p.His38fs)deletion Pathogenic 435609 rs1554859309 10:94366054-94366054 10:92606297-92606297
3 KIF11 NM_004523.4(KIF11):c.868C>T (p.Gln290Ter)SNV Pathogenic 435617 rs1554859966 10:94373212-94373212 10:92613455-92613455
4 KIF11 NM_004523.4(KIF11):c.2160+1G>TSNV Pathogenic 435613 rs1554862218 10:94397303-94397303 10:92637546-92637546
5 KIF11 NM_004523.4(KIF11):c.2548-1G>ASNV Pathogenic 435615 rs1554863016 10:94407968-94407968 10:92648211-92648211
6 KIF11 NM_004523.4(KIF11):c.2230C>T (p.Gln744Ter)SNV Pathogenic 453264 rs1554862427 10:94399620-94399620 10:92639863-92639863
7 KIF11 NM_004523.4(KIF11):c.1116dup (p.Ala373fs)duplication Pathogenic 694001 10:94376571-94376572 10:92616814-92616815
8 KIF11 NM_004523.4(KIF11):c.2782C>T (p.Gln928Ter)SNV Pathogenic 802621 10:94409603-94409603 10:92649846-92649846
9 KIF11 NM_004523.4(KIF11):c.476_477CT[1] (p.Leu160fs)short repeat Pathogenic 812110 10:94368864-94368865 10:92609107-92609108
10 KIF11 NM_004523.4(KIF11):c.1592del (p.Gln531fs)deletion Pathogenic 29771 rs730882062 10:94392340-94392340 10:92632583-92632583
11 KIF11 NM_004523.4(KIF11):c.2547+2T>CSNV Pathogenic 29772 rs730882063 10:94405401-94405401 10:92645644-92645644
12 KIF11 NM_004523.4(KIF11):c.704C>G (p.Ser235Cys)SNV Pathogenic 29773 rs387906643 10:94372802-94372802 10:92613045-92613045
13 KIF11 NM_004523.4(KIF11):c.2300_2301del (p.Phe767fs)deletion Pathogenic 183016 rs730882121 10:94405150-94405151 10:92645393-92645394
14 KIF11 NM_004523.4(KIF11):c.790-1G>ASNV Pathogenic 183017 rs730882122 10:94373133-94373133 10:92613376-92613376
15 KIF11 NM_004523.4(KIF11):c.1408G>T (p.Glu470Ter)SNV Pathogenic 192300 rs786205900 10:94390035-94390035 10:92630278-92630278
16 KIF11 NM_004523.4(KIF11):c.790-1G>TSNV Pathogenic 192301 rs730882122 10:94373133-94373133 10:92613376-92613376
17 KIF11 NM_004523.4(KIF11):c.-1_2delinsAA (p.Met1fs)indel Pathogenic 211271 rs797045649 10:94353132-94353134 10:92593375-92593377
18 KIF11 NM_004523.4(KIF11):c.436A>T (p.Lys146Ter)SNV Pathogenic 211274 rs797045650 10:94368825-94368825 10:92609068-92609068
19 KIF11 NM_004523.4(KIF11):c.699-7_705deldeletion Pathogenic 211275 rs797045651 10:94372790-94372803 10:92613033-92613046
20 KIF11 NM_004523.4(KIF11):c.1159C>T (p.Arg387Ter)SNV Pathogenic 29768 rs387906641 10:94381172-94381172 10:92621415-92621415
21 KIF11 NM_004523.4(KIF11):c.1037_1038CT[1] (p.Leu347fs)short repeat Pathogenic 29769 rs730882061 10:94376498-94376499 10:92616741-92616742
22 KIF11 NM_004523.4(KIF11):c.2341C>T (p.Gln781Ter)SNV Pathogenic 369969 rs1057516208 10:94405193-94405193 10:92645436-92645436
23 KIF11 NM_004523.4(KIF11):c.381G>A (p.Trp127Ter)SNV Pathogenic/Likely pathogenic 810629 10:94366988-94366988 10:92607231-92607231
24 KIF11 NM_004523.4(KIF11):c.1634T>C (p.Met545Thr)SNV Likely pathogenic 666590 10:94392382-94392382 10:92632625-92632625
25 KIF11 NM_004523.4(KIF11):c.1305+1G>ASNV Likely pathogenic 807619 10:94388653-94388653 10:92628896-92628896
26 KIF11 NM_004523.4(KIF11):c.2972dup (p.Ser992fs)duplication Likely pathogenic 495254 rs1554863246 10:94410206-94410207 10:92650449-92650450
27 KIF11 NM_004523.4(KIF11):c.2059del (p.His687fs)deletion Likely pathogenic 435612 rs1554862197 10:94397201-94397201 10:92637444-92637444
28 KIF11 NM_004523.4(KIF11):c.1288_1290GAG[2] (p.Glu432del)short repeat Likely pathogenic 450271 rs1554861545 10:94388635-94388637 10:92628878-92628880
29 KIF11 NM_004523.4(KIF11):c.2922G>A (p.Pro974=)SNV Conflicting interpretations of pathogenicity 435616 rs1554863201 10:94409743-94409743 10:92649986-92649986
30 KIF11 NM_004523.4(KIF11):c.1677G>A (p.Met559Ile)SNV Uncertain significance 435611 rs750869480 10:94392425-94392425 10:92632668-92632668
31 KIF11 NM_004523.4(KIF11):c.980G>A (p.Arg327His)SNV Uncertain significance 592131 rs746977730 10:94373324-94373324 10:92613567-92613567
32 KIF11 NM_004523.4(KIF11):c.349G>T (p.Gly117Cys)SNV Uncertain significance 829850 10:94366956-94366956 10:92607199-92607199
33 KIF11 NM_004523.4(KIF11):c.2830C>T (p.Arg944Cys)SNV Uncertain significance 29770 rs387906642 10:94409651-94409651 10:92649894-92649894
34 KIF11 NM_004523.4(KIF11):c.2153A>T (p.His718Leu)SNV Benign 259409 rs116942055 10:94397295-94397295 10:92637538-92637538

UniProtKB/Swiss-Prot genetic disease variations for Microcephaly with or Without Chorioretinopathy, Lymphedema, or Mental Retardation:

73
# Symbol AA change Variation ID SNP ID
1 KIF11 p.Phe144Leu VAR_067829
2 KIF11 p.Arg234Cys VAR_067830
3 KIF11 p.Ser235Cys VAR_067831 rs387906643
4 KIF11 p.Arg944Cys VAR_067832 rs387906642

Expression for Microcephaly with or Without Chorioretinopathy, Lymphedema, or...

Search GEO for disease gene expression data for Microcephaly with or Without Chorioretinopathy, Lymphedema, or Mental Retardation.

Pathways for Microcephaly with or Without Chorioretinopathy, Lymphedema, or...

Pathways related to Microcephaly with or Without Chorioretinopathy, Lymphedema, or Mental Retardation according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.64 SPTBN2 KIF11

GO Terms for Microcephaly with or Without Chorioretinopathy, Lymphedema, or...

Cellular components related to Microcephaly with or Without Chorioretinopathy, Lymphedema, or Mental Retardation according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 spindle pole GO:0000922 9.26 KIF11 ASPM
2 kinesin complex GO:0005871 9.16 KIF1A KIF11
3 microtubule GO:0005874 9.13 KIF1A KIF11 ASPM
4 cytoskeleton GO:0005856 9.02 SPTBN2 RTTN KIF1A KIF11 ASPM

Biological processes related to Microcephaly with or Without Chorioretinopathy, Lymphedema, or Mental Retardation according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 antigen processing and presentation of exogenous peptide antigen via MHC class II GO:0019886 9.16 SPTBN2 KIF11
2 microtubule-based movement GO:0007018 8.96 KIF1A KIF11
3 spindle organization GO:0007051 8.62 KIF11 ASPM

Molecular functions related to Microcephaly with or Without Chorioretinopathy, Lymphedema, or Mental Retardation according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 microtubule motor activity GO:0003777 8.96 KIF1A KIF11
2 ATP-dependent microtubule motor activity, plus-end-directed GO:0008574 8.62 KIF1A KIF11

Sources for Microcephaly with or Without Chorioretinopathy, Lymphedema, or...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
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56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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