LLS
MCID: LSC003
MIFTS: 32

Luscan-Lumish Syndrome (LLS)

Categories: Genetic diseases

Aliases & Classifications for Luscan-Lumish Syndrome

MalaCards integrated aliases for Luscan-Lumish Syndrome:

Name: Luscan-Lumish Syndrome 56 73 29 6 39
Lls 56 73

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
variable phenotype
three unrelated patients have been reported (last curated february 2016)


HPO:

31
luscan-lumish syndrome:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Luscan-Lumish Syndrome

OMIM : 56 Luscan-Lumish syndrome is characterized by macrocephaly, intellectual disability, speech delay, low sociability, and behavioral problems. More variable features include postnatal overgrowth, obesity, advanced carpal ossification, developmental delay, and seizures (Luscan et al., 2014; Lumish et al., 2015) (616831)

MalaCards based summary : Luscan-Lumish Syndrome, also known as lls, is related to bipolar ll disorder and spinal muscular atrophy, type i. An important gene associated with Luscan-Lumish Syndrome is SETD2 (SET Domain Containing 2, Histone Lysine Methyltransferase). Affiliated tissues include t cells, ovary and bone, and related phenotypes are macrocephaly and malar flattening

UniProtKB/Swiss-Prot : 73 Luscan-Lumish syndrome: An autosomal dominant syndrome with a variable phenotype. Clinical features include macrocephaly, distinctive facial appearance, postnatal overgrowth, various degrees of learning difficulties, autism spectrum disorder, and intellectual disability.

Related Diseases for Luscan-Lumish Syndrome

Diseases related to Luscan-Lumish Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 79)
# Related Disease Score Top Affiliating Genes
1 bipolar ll disorder 12.3
2 spinal muscular atrophy, type i 11.2
3 spinal muscular atrophy, type iii 11.2
4 sleep apnea 11.2
5 spinal muscular atrophy 11.2
6 hansen's disease 10.6
7 leprosy 3 10.6
8 lepromatous leprosy 10.4
9 chlamydia 10.3
10 pulmonary hypertension, primary, 2 10.2
11 coloboma, ocular, autosomal recessive 10.2
12 precursor t-cell acute lymphoblastic leukemia 10.2
13 leukemia, acute lymphoblastic 10.1
14 lymphocytic leukemia 10.1
15 leukemia 10.1
16 neuritis 10.1
17 alcohol dependence 9.9
18 spondyloarthropathy 1 9.9
19 bladder cancer 9.9
20 colorectal cancer 9.9
21 esophageal cancer 9.9
22 keratosis, seborrheic 9.9
23 small cell cancer of the lung 9.9
24 triiodothyronine receptor auxiliary protein 9.9
25 lung cancer 9.9
26 osteogenic sarcoma 9.9
27 maturity-onset diabetes of the young 9.9
28 coronary heart disease 1 9.9
29 microvascular complications of diabetes 3 9.9
30 microvascular complications of diabetes 4 9.9
31 microvascular complications of diabetes 5 9.9
32 microvascular complications of diabetes 6 9.9
33 microvascular complications of diabetes 7 9.9
34 pulmonary hypertension, primary, 4 9.9
35 tatton-brown-rahman syndrome 9.9
36 perching syndrome 9.9
37 adiaspiromycosis 9.9
38 adult t-cell leukemia 9.9
39 mantle cell lymphoma 9.9
40 limb ischemia 9.9
41 sexual disorder 9.9
42 lymphoma 9.9
43 scoliosis 9.9
44 lymphoproliferative syndrome 9.9
45 dextro-looped transposition of the great arteries 9.9
46 lymphoblastic lymphoma 9.9
47 giardiasis 9.9
48 filariasis 9.9
49 mansonelliasis 9.9
50 pertussis 9.9

Graphical network of the top 20 diseases related to Luscan-Lumish Syndrome:



Diseases related to Luscan-Lumish Syndrome

Symptoms & Phenotypes for Luscan-Lumish Syndrome

Human phenotypes related to Luscan-Lumish Syndrome:

31 (show all 33)
# Description HPO Frequency HPO Source Accession
1 macrocephaly 31 HP:0000256
2 malar flattening 31 HP:0000272
3 obesity 31 HP:0001513
4 intellectual disability 31 HP:0001249
5 seizures 31 HP:0001250
6 global developmental delay 31 HP:0001263
7 mandibular prognathia 31 HP:0000303
8 delayed speech and language development 31 HP:0000750
9 short stature 31 HP:0004322
10 downslanted palpebral fissures 31 HP:0000494
11 prominent forehead 31 HP:0011220
12 generalized hypotonia 31 HP:0001290
13 slurred speech 31 HP:0001350
14 recurrent otitis media 31 HP:0000403
15 anxiety 31 HP:0000739
16 ventriculomegaly 31 HP:0002119
17 shyness 31 HP:0100962
18 aggressive behavior 31 HP:0000718
19 high forehead 31 HP:0000348
20 arnold-chiari malformation 31 HP:0002308
21 polycystic ovaries 31 HP:0000147
22 long face 31 HP:0000276
23 polyphagia 31 HP:0002591
24 autistic behavior 31 HP:0000729
25 pointed chin 31 HP:0000307
26 high anterior hairline 31 HP:0009890
27 long nose 31 HP:0003189
28 overgrowth 31 HP:0001548
29 menstrual irregularities 31 HP:0000858
30 hirsutism 31 HP:0001007
31 syringomyelia 31 HP:0003396
32 long foot 31 HP:0001833
33 advanced ossification of carpal bones 31 HP:0004233

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Head:
macrocephaly

Neurologic Central Nervous System:
intellectual disability
ventriculomegaly
syringomyelia
developmental delay
hypotonia
more
Head And Neck Ears:
recurrent otitis media

Head And Neck Face:
long face
pointed chin
malar hypoplasia
prominent mandible

Head And Neck Eyes:
downslanting palpebral fissures

Neurologic Behavioral Psychiatric Manifestations:
hyperphagia
compulsions
autism spectrum disorder
anxiety disorder
behavior troubles
more
Growth Weight:
obesity

Growth Height:
short stature
tall stature

Genitourinary Internal Genitalia Female:
polycystic ovaries

Head And Neck Nose:
long nose

Endocrine Features:
menstrual irregularity
polycystic ovary syndrome

Skeletal Hands:
advanced carpal ossification
hyperlaxity of hands

Clinical features from OMIM:

616831

Drugs & Therapeutics for Luscan-Lumish Syndrome

Search Clinical Trials , NIH Clinical Center for Luscan-Lumish Syndrome

Genetic Tests for Luscan-Lumish Syndrome

Genetic tests related to Luscan-Lumish Syndrome:

# Genetic test Affiliating Genes
1 Luscan-Lumish Syndrome 29 SETD2

Anatomical Context for Luscan-Lumish Syndrome

MalaCards organs/tissues related to Luscan-Lumish Syndrome:

40
T Cells, Ovary, Bone, Lung, Heart, B Cells

Publications for Luscan-Lumish Syndrome

Articles related to Luscan-Lumish Syndrome:

# Title Authors PMID Year
1
Brief Report: SETD2 Mutation in a Child with Autism, Intellectual Disabilities and Epilepsy. 56 6
26084711 2015
2
Mutations in SETD2 cause a novel overgrowth condition. 56 6
24852293 2014
3
Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders. 56 6
23160955 2012
4
The contribution of de novo coding mutations to autism spectrum disorder. 56
25363768 2014
5
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations. 56
22495309 2012
6
Two novel cases expanding the phenotype of SETD2-related overgrowth syndrome. 61
29681085 2018

Variations for Luscan-Lumish Syndrome

ClinVar genetic disease variations for Luscan-Lumish Syndrome:

6 (show top 50) (show all 105) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SETD2 NM_014159.6(SETD2):c.6341del (p.Asn2114fs)deletion Pathogenic 222953 rs869025569 3:47098933-47098933 3:47057443-47057443
2 SETD2 NM_014159.6(SETD2):c.5444T>G (p.Leu1815Trp)SNV Pathogenic 222954 rs869025570 3:47125826-47125826 3:47084336-47084336
3 SETD2 NM_014159.6(SETD2):c.820C>T (p.Gln274Ter)SNV Pathogenic 222955 rs869025571 3:47165306-47165306 3:47123816-47123816
4 SETD2 NM_014159.6(SETD2):c.2028del (p.Pro677fs)deletion Pathogenic 222956 rs869025572 3:47164098-47164098 3:47122608-47122608
5 SETD2 NM_014159.6(SETD2):c.4997A>G (p.Tyr1666Cys)SNV Pathogenic 632591 rs1559720382 3:47142966-47142966 3:47101476-47101476
6 SETD2 NM_014159.6(SETD2):c.5218C>T (p.Arg1740Trp)SNV Pathogenic/Likely pathogenic 388568 rs1057523157 3:47129662-47129662 3:47088172-47088172
7 SETD2 NM_014159.6(SETD2):c.2819G>T (p.Gly940Val)SNV Conflicting interpretations of pathogenicity 574593 rs751707090 3:47163307-47163307 3:47121817-47121817
8 SETD2 NM_014159.6(SETD2):c.2155A>G (p.Asn719Asp)SNV Conflicting interpretations of pathogenicity 135211 rs115859828 3:47163971-47163971 3:47122481-47122481
9 SETD2 NM_014159.6(SETD2):c.1885A>G (p.Lys629Glu)SNV Conflicting interpretations of pathogenicity 542227 rs145650484 3:47164241-47164241 3:47122751-47122751
10 SETD2 NM_014159.6(SETD2):c.676C>G (p.Pro226Ala)SNV Uncertain significance 542220 rs780963440 3:47165450-47165450 3:47123960-47123960
11 SETD2 NM_014159.6(SETD2):c.148G>A (p.Ala50Thr)SNV Uncertain significance 542232 rs191985301 3:47165978-47165978 3:47124488-47124488
12 SETD2 NM_014159.6(SETD2):c.2942T>C (p.Leu981Ser)SNV Uncertain significance 542226 rs200569407 3:47163184-47163184 3:47121694-47121694
13 SETD2 NM_014159.6(SETD2):c.1477C>T (p.Arg493Trp)SNV Uncertain significance 542225 rs778693117 3:47164649-47164649 3:47123159-47123159
14 SETD2 NM_014159.6(SETD2):c.538T>G (p.Ser180Ala)SNV Uncertain significance 542229 rs1318754770 3:47165588-47165588 3:47124098-47124098
15 SETD2 NM_014159.6(SETD2):c.2894A>G (p.Glu965Gly)SNV Uncertain significance 582921 rs781662505 3:47163232-47163232 3:47121742-47121742
16 SETD2 NM_014159.6(SETD2):c.3131G>A (p.Ser1044Asn)SNV Uncertain significance 135233 rs587778673 3:47162995-47162995 3:47121505-47121505
17 SETD2 NM_014159.6(SETD2):c.2402A>G (p.Asn801Ser)SNV Uncertain significance 577459 rs1241448462 3:47163724-47163724 3:47122234-47122234
18 SETD2 NM_014159.6(SETD2):c.1103G>A (p.Arg368Gln)SNV Uncertain significance 574938 rs1385695873 3:47165023-47165023 3:47123533-47123533
19 SETD2 NM_014159.6(SETD2):c.5900G>C (p.Gly1967Ala)SNV Uncertain significance 567605 rs143991928 3:47125370-47125370 3:47083880-47083880
20 SETD2 NM_014159.6(SETD2):c.5202G>C (p.Gln1734His)SNV Uncertain significance 577762 rs141847082 3:47129678-47129678 3:47088188-47088188
21 SETD2 NM_014159.6(SETD2):c.2507G>A (p.Cys836Tyr)SNV Uncertain significance 571253 rs1559745772 3:47163619-47163619 3:47122129-47122129
22 SETD2 NM_014159.6(SETD2):c.2100T>C (p.Asp700=)SNV Uncertain significance 571243 rs775142324 3:47164026-47164026 3:47122536-47122536
23 SETD2 NM_014159.6(SETD2):c.2072C>T (p.Thr691Ile)SNV Uncertain significance 576724 rs371953347 3:47164054-47164054 3:47122564-47122564
24 SETD2 NM_014159.6(SETD2):c.1414C>T (p.Arg472Cys)SNV Uncertain significance 580050 rs771203643 3:47164712-47164712 3:47123222-47123222
25 SETD2 NM_014159.6(SETD2):c.920C>A (p.Ser307Tyr)SNV Uncertain significance 583033 rs1303561180 3:47165206-47165206 3:47123716-47123716
26 SETD2 NM_014159.6(SETD2):c.94A>G (p.Ile32Val)SNV Uncertain significance 579178 rs1170321784 3:47166032-47166032 3:47124542-47124542
27 SETD2 NM_014159.6(SETD2):c.7350+6T>CSNV Uncertain significance 578649 rs369951554 3:47079150-47079150 3:47037660-47037660
28 SETD2 NM_014159.6(SETD2):c.5872G>C (p.Ala1958Pro)SNV Uncertain significance 570200 rs377115716 3:47125398-47125398 3:47083908-47083908
29 SETD2 NM_014159.6(SETD2):c.5561C>T (p.Pro1854Leu)SNV Uncertain significance 574360 rs1559701896 3:47125709-47125709 3:47084219-47084219
30 SETD2 NM_014159.6(SETD2):c.4091A>G (p.Lys1364Arg)SNV Uncertain significance 567062 rs1559741577 3:47162035-47162035 3:47120545-47120545
31 SETD2 NM_014159.6(SETD2):c.3572A>G (p.Lys1191Arg)SNV Uncertain significance 567528 rs1559742980 3:47162554-47162554 3:47121064-47121064
32 SETD2 NM_014159.6(SETD2):c.3193C>T (p.Arg1065Cys)SNV Uncertain significance 578109 rs765867260 3:47162933-47162933 3:47121443-47121443
33 SETD2 NM_014159.6(SETD2):c.2008G>A (p.Glu670Lys)SNV Uncertain significance 572268 rs374976472 3:47164118-47164118 3:47122628-47122628
34 SETD2 NM_014159.6(SETD2):c.1664A>C (p.Tyr555Ser)SNV Uncertain significance 568829 rs573301881 3:47164462-47164462 3:47122972-47122972
35 SETD2 NM_014159.6(SETD2):c.1457C>T (p.Ser486Leu)SNV Uncertain significance 582125 rs1559748168 3:47164669-47164669 3:47123179-47123179
36 SETD2 NM_014159.6(SETD2):c.1334G>T (p.Arg445Leu)SNV Uncertain significance 570852 rs935586454 3:47164792-47164792 3:47123302-47123302
37 SETD2 NM_014159.6(SETD2):c.6044G>A (p.Ser2015Asn)SNV Uncertain significance 567889 rs1366338930 3:47125226-47125226 3:47083736-47083736
38 SETD2 NM_014159.6(SETD2):c.1833G>T (p.Lys611Asn)SNV Uncertain significance 582290 rs575862721 3:47164293-47164293 3:47122803-47122803
39 SETD2 NM_014159.6(SETD2):c.3176G>A (p.Ser1059Asn)SNV Uncertain significance 634604 rs558262802 3:47162950-47162950 3:47121460-47121460
40 SETD2 NM_014159.6(SETD2):c.7048G>A (p.Ala2350Thr)SNV Uncertain significance 659482 3:47088027-47088027 3:47046537-47046537
41 SETD2 NM_014159.6(SETD2):c.6999_7007del (p.Gln2334_Ile2336del)deletion Uncertain significance 644892 3:47088068-47088076 3:47046578-47046586
42 SETD2 NM_014159.6(SETD2):c.6953C>G (p.Pro2318Arg)SNV Uncertain significance 661537 3:47098321-47098321 3:47056831-47056831
43 SETD2 NM_014159.6(SETD2):c.6737G>C (p.Gly2246Ala)SNV Uncertain significance 648560 3:47098537-47098537 3:47057047-47057047
44 SETD2 NM_014159.6(SETD2):c.6604C>G (p.Pro2202Ala)SNV Uncertain significance 663696 3:47098670-47098670 3:47057180-47057180
45 SETD2 NM_014159.6(SETD2):c.6482A>C (p.His2161Pro)SNV Uncertain significance 654595 3:47098792-47098792 3:47057302-47057302
46 SETD2 NM_014159.6(SETD2):c.6429C>A (p.Asn2143Lys)SNV Uncertain significance 642782 3:47098845-47098845 3:47057355-47057355
47 SETD2 NM_014159.6(SETD2):c.5632T>C (p.Phe1878Leu)SNV Uncertain significance 658116 3:47125638-47125638 3:47084148-47084148
48 SETD2 NM_014159.6(SETD2):c.5542A>G (p.Thr1848Ala)SNV Uncertain significance 655623 3:47125728-47125728 3:47084238-47084238
49 SETD2 NM_014159.6(SETD2):c.5524G>A (p.Gly1842Arg)SNV Uncertain significance 649731 3:47125746-47125746 3:47084256-47084256
50 SETD2 NM_014159.6(SETD2):c.5317C>T (p.Arg1773Cys)SNV Uncertain significance 647868 3:47127765-47127765 3:47086275-47086275

Expression for Luscan-Lumish Syndrome

Search GEO for disease gene expression data for Luscan-Lumish Syndrome.

Pathways for Luscan-Lumish Syndrome

GO Terms for Luscan-Lumish Syndrome

Sources for Luscan-Lumish Syndrome

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