MCID: MCR216
MIFTS: 31

Microcephaly with or Without Chorioretinopathy, Lymphedema, or Mental Retardation

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Immune diseases, Mental 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 57 12 75 37 29 13 6 15 40
Lymphedema, Microcephaly and Chorioretinopathy Syndrome 12 53 44 73
Chorioretinal Dysplasia-Microcephaly-Mental Retardation Syndrome 12 53 73
Lymphedema and Retinal Folds with Microcephaly and Microphthalmos 57 75
Microcephaly, Lymphedema, Chorioretinal Dysplasia Syndrome 57 12
Microcephaly Lymphedema Chorioretinal Dysplasia 12 53
Mlcrd Syndrome 57 75
Cdmmr Syndrome 57 75
Mclmr 57 75
Microcephaly and Chorioretinopathy with or Without Mental Retardation, Autosomal Dominant 57
Autosomal Dominant Microcephaly and Chorioretinopathy with or Without Mental Retardation 75
Lymphedema and Retinal Folds with Ficrocephaly and Microphthalmos 12
Microcephaly Lymphedema Chorioretinal Dysplasia Syndrome 75
Lymphedema, Microcephaly, Chorioretinopathy Syndrome 57
Lymphedema Microcephaly Chorioretinopathy Syndrome 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
microcephaly with or without chorioretinopathy, lymphedema, or mental retardation:
Inheritance autosomal dominant inheritance


Classifications:



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

OMIM : 57 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 chorioretinopathy, autosomal recessive, 1 and exudative vitreoretinopathy 1. An important gene associated with Microcephaly with or Without Chorioretinopathy, Lymphedema, or Mental Retardation is KIF11 (Kinesin Family Member 11). Affiliated tissues include eye, retina and skin, and related phenotypes are thick lower lip vermilion and thin upper lip vermilion

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.

UniProtKB/Swiss-Prot : 75 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:

# Related Disease Score Top Affiliating Genes
1 microcephaly and chorioretinopathy, autosomal recessive, 1 11.5
2 exudative vitreoretinopathy 1 10.9
3 lymphedema 10.2
4 microcephaly 10.2

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

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
nystagmus
cataract
corneal opacity
myopia
reduced visual acuity
more
Head And Neck Face:
long philtrum
prominent philtrum
sloping forehead (in some patients)
bulging forehead (rare)
prominent chin

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

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

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 Ears:
prominent ears

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


Clinical features from OMIM:

152950

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

32 (show top 50) (show all 74)
# Description HPO Frequency HPO Source Accession
1 thick lower lip vermilion 32 HP:0000179
2 thin upper lip vermilion 32 HP:0000219
3 microcephaly 32 hallmark (90%) HP:0000252
4 epicanthus 32 occasional (7.5%) HP:0000286
5 mandibular prognathia 32 HP:0000303
6 sloping forehead 32 occasional (7.5%) HP:0000340
7 long philtrum 32 occasional (7.5%) HP:0000343
8 protruding ear 32 occasional (7.5%) HP:0000411
9 broad nasal tip 32 HP:0000455
10 anteverted nares 32 occasional (7.5%) HP:0000463
11 downslanted palpebral fissures 32 HP:0000494
12 myopia 32 occasional (7.5%) HP:0000545
13 upslanted palpebral fissure 32 occasional (7.5%) HP:0000582
14 optic atrophy 32 occasional (7.5%) HP:0000648
15 agitation 32 occasional (7.5%) HP:0000713
16 aggressive behavior 32 occasional (7.5%) HP:0000718
17 lymphedema 32 hallmark (90%) HP:0001004
18 intellectual disability, mild 32 HP:0001256
19 deep philtrum 32 HP:0002002
20 sleep disturbance 32 occasional (7.5%) HP:0002360
21 depressed nasal bridge 32 HP:0005280
22 flat occiput 32 HP:0005469
23 attention deficit hyperactivity disorder 32 HP:0007018
24 chorioretinal dysplasia 32 occasional (7.5%) HP:0007731
25 chorioretinal lacunae 32 occasional (7.5%) HP:0007858
26 cortical gyral simplification 32 HP:0009879
27 prominent forehead 32 occasional (7.5%) HP:0011220
28 full cheeks 32 occasional (7.5%) HP:0000293
29 pointed chin 32 occasional (7.5%) HP:0000307
30 wide nasal bridge 32 occasional (7.5%) HP:0000431
31 wide nose 32 occasional (7.5%) HP:0000445
32 retinopathy 32 occasional (7.5%) HP:0000488
33 abnormality of the eyelashes 32 occasional (7.5%) HP:0000499
34 glaucoma 32 occasional (7.5%) HP:0000501
35 ptosis 32 occasional (7.5%) HP:0000508
36 cataract 32 occasional (7.5%) HP:0000518
37 anophthalmia 32 occasional (7.5%) HP:0000528
38 retinal detachment 32 occasional (7.5%) HP:0000541
39 retinal dystrophy 32 occasional (7.5%) HP:0000556
40 microphthalmia 32 occasional (7.5%) HP:0000568
41 visual loss 32 occasional (7.5%) HP:0000572
42 abnormal nasolacrimal system morphology 32 occasional (7.5%) HP:0000614
43 blindness 32 occasional (7.5%) HP:0000618
44 amblyopia 32 occasional (7.5%) HP:0000646
45 dry skin 32 occasional (7.5%) HP:0000958
46 erysipelas 32 occasional (7.5%) HP:0001055
47 thickened skin 32 occasional (7.5%) HP:0001072
48 intellectual disability 32 frequent (33%) HP:0001249
49 muscular hypotonia 32 frequent (33%) HP:0001252
50 spasticity 32 occasional (7.5%) HP:0001257

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:

41
Eye, Retina, Skin

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

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

# Title Authors Year
1
No evidence of locus heterogeneity in familial microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome. ( 25934493 )
2015

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

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

75
# 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

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

6
(show all 44)
# Gene Variation Type Significance SNP ID Assembly Location
1 KIF11 NM_004523.3(KIF11): c.1159C> T (p.Arg387Ter) single nucleotide variant Pathogenic rs387906641 GRCh37 Chromosome 10, 94381172: 94381172
2 KIF11 NM_004523.3(KIF11): c.1159C> T (p.Arg387Ter) single nucleotide variant Pathogenic rs387906641 GRCh38 Chromosome 10, 92621415: 92621415
3 KIF11 NM_004523.3(KIF11): c.1039_1040delCT (p.Leu347Glufs) deletion Pathogenic rs730882061 GRCh38 Chromosome 10, 92616743: 92616744
4 KIF11 NM_004523.3(KIF11): c.1039_1040delCT (p.Leu347Glufs) deletion Pathogenic rs730882061 GRCh37 Chromosome 10, 94376500: 94376501
5 KIF11 NM_004523.3(KIF11): c.1592delA (p.Gln531Argfs) deletion Pathogenic rs730882062 GRCh37 Chromosome 10, 94392340: 94392340
6 KIF11 NM_004523.3(KIF11): c.1592delA (p.Gln531Argfs) deletion Pathogenic rs730882062 GRCh38 Chromosome 10, 92632583: 92632583
7 KIF11 NM_004523.3(KIF11): c.2547+2T> C single nucleotide variant Pathogenic rs730882063 GRCh37 Chromosome 10, 94405401: 94405401
8 KIF11 NM_004523.3(KIF11): c.2547+2T> C single nucleotide variant Pathogenic rs730882063 GRCh38 Chromosome 10, 92645644: 92645644
9 KIF11 NM_004523.3(KIF11): c.704C> G (p.Ser235Cys) single nucleotide variant Pathogenic rs387906643 GRCh37 Chromosome 10, 94372802: 94372802
10 KIF11 NM_004523.3(KIF11): c.704C> G (p.Ser235Cys) single nucleotide variant Pathogenic rs387906643 GRCh38 Chromosome 10, 92613045: 92613045
11 KIF11 NM_004523.3(KIF11): c.2300_2301delTT (p.Phe767Serfs) deletion Pathogenic rs730882121 GRCh37 Chromosome 10, 94405152: 94405153
12 KIF11 NM_004523.3(KIF11): c.2300_2301delTT (p.Phe767Serfs) deletion Pathogenic rs730882121 GRCh38 Chromosome 10, 92645395: 92645396
13 KIF11 NM_004523.3(KIF11): c.790-1G> A single nucleotide variant Pathogenic rs730882122 GRCh37 Chromosome 10, 94373133: 94373133
14 KIF11 NM_004523.3(KIF11): c.790-1G> A single nucleotide variant Pathogenic rs730882122 GRCh38 Chromosome 10, 92613376: 92613376
15 KIF11 NM_004523.3(KIF11): c.1408G> T (p.Glu470Ter) single nucleotide variant Pathogenic rs786205900 GRCh37 Chromosome 10, 94390035: 94390035
16 KIF11 NM_004523.3(KIF11): c.1408G> T (p.Glu470Ter) single nucleotide variant Pathogenic rs786205900 GRCh38 Chromosome 10, 92630278: 92630278
17 KIF11 NM_004523.3(KIF11): c.790-1G> T single nucleotide variant Pathogenic rs730882122 GRCh37 Chromosome 10, 94373133: 94373133
18 KIF11 NM_004523.3(KIF11): c.790-1G> T single nucleotide variant Pathogenic rs730882122 GRCh38 Chromosome 10, 92613376: 92613376
19 KIF11 NM_004523.3(KIF11): c.-1_2delCATinsAA indel Pathogenic rs797045649 GRCh38 Chromosome 10, 92593375: 92593377
20 KIF11 NM_004523.3(KIF11): c.-1_2delCATinsAA indel Pathogenic rs797045649 GRCh37 Chromosome 10, 94353132: 94353134
21 KIF11 NM_004523.3(KIF11): c.436A> T (p.Lys146Ter) single nucleotide variant Pathogenic rs797045650 GRCh37 Chromosome 10, 94368825: 94368825
22 KIF11 NM_004523.3(KIF11): c.436A> T (p.Lys146Ter) single nucleotide variant Pathogenic rs797045650 GRCh38 Chromosome 10, 92609068: 92609068
23 KIF11 NM_004523.3(KIF11): c.699-7_705del deletion Pathogenic rs797045651 GRCh37 Chromosome 10, 94372790: 94372803
24 KIF11 NM_004523.3(KIF11): c.699-7_705del deletion Pathogenic rs797045651 GRCh38 Chromosome 10, 92613033: 92613046
25 KIF11 NM_004523.3(KIF11): c.2153A> T (p.His718Leu) single nucleotide variant Benign rs116942055 GRCh38 Chromosome 10, 92637538: 92637538
26 KIF11 NM_004523.3(KIF11): c.2153A> T (p.His718Leu) single nucleotide variant Benign rs116942055 GRCh37 Chromosome 10, 94397295: 94397295
27 KIF11 NM_004523.3(KIF11): c.2341C> T (p.Gln781Ter) single nucleotide variant Pathogenic rs1057516208 GRCh37 Chromosome 10, 94405193: 94405193
28 KIF11 NM_004523.3(KIF11): c.2341C> T (p.Gln781Ter) single nucleotide variant Pathogenic rs1057516208 GRCh38 Chromosome 10, 92645436: 92645436
29 KIF11 NM_004523.3(KIF11): c.112delC (p.His38Ilefs) deletion Pathogenic GRCh37 Chromosome 10, 94366056: 94366056
30 KIF11 NM_004523.3(KIF11): c.112delC (p.His38Ilefs) deletion Pathogenic GRCh38 Chromosome 10, 92606299: 92606299
31 KIF11 NM_004523.3(KIF11): c.868C> T (p.Gln290Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 10, 94373212: 94373212
32 KIF11 NM_004523.3(KIF11): c.868C> T (p.Gln290Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 10, 92613455: 92613455
33 KIF11 NM_004523.3(KIF11): c.2059delC (p.His687Metfs) deletion Likely pathogenic GRCh37 Chromosome 10, 94397201: 94397201
34 KIF11 NM_004523.3(KIF11): c.2059delC (p.His687Metfs) deletion Likely pathogenic GRCh38 Chromosome 10, 92637444: 92637444
35 KIF11 NM_004523.3(KIF11): c.2160+1G> T single nucleotide variant Pathogenic GRCh38 Chromosome 10, 92637546: 92637546
36 KIF11 NM_004523.3(KIF11): c.2160+1G> T single nucleotide variant Pathogenic GRCh37 Chromosome 10, 94397303: 94397303
37 KIF11 NM_004523.3(KIF11): c.2548-1G> A single nucleotide variant Pathogenic GRCh38 Chromosome 10, 92648211: 92648211
38 KIF11 NM_004523.3(KIF11): c.2548-1G> A single nucleotide variant Pathogenic GRCh37 Chromosome 10, 94407968: 94407968
39 KIF11 NM_004523.3(KIF11): c.2922G> A (p.Pro974=) single nucleotide variant Conflicting interpretations of pathogenicity GRCh37 Chromosome 10, 94409743: 94409743
40 KIF11 NM_004523.3(KIF11): c.2922G> A (p.Pro974=) single nucleotide variant Conflicting interpretations of pathogenicity GRCh38 Chromosome 10, 92649986: 92649986
41 KIF11 NM_004523.3(KIF11): c.2230C> T (p.Gln744Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 10, 92639863: 92639863
42 KIF11 NM_004523.3(KIF11): c.2230C> T (p.Gln744Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 10, 94399620: 94399620
43 KIF11 NM_004523.3(KIF11): c.2971_2972insT (p.Ser992Lysfs) insertion Likely pathogenic GRCh37 Chromosome 10, 94410206: 94410207
44 KIF11 NM_004523.3(KIF11): c.2971_2972insT (p.Ser992Lysfs) insertion Likely pathogenic GRCh38 Chromosome 10, 92650449: 92650450

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...

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

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

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