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 iii. An important gene associated with Luscan-Lumish Syndrome is SETD2 (SET Domain Containing 2, Histone Lysine Methyltransferase). Affiliated tissues include ovary and bone, and related phenotypes are intellectual disability and global developmental delay

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 77)
# Related Disease Score Top Affiliating Genes
1 bipolar ll disorder 12.3
2 spinal muscular atrophy, type iii 11.2
3 sleep apnea 11.2
4 spinal muscular atrophy 11.2
5 werdnig-hoffman disease 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 scoliosis 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 lipoprotein quantitative trait locus 9.9
38 adiaspiromycosis 9.9
39 mantle cell lymphoma 9.9
40 limb ischemia 9.9
41 sexual disorder 9.9
42 lymphoma 9.9
43 dextro-looped transposition of the great arteries 9.9
44 hereditary lymphedema i 9.9
45 lymphoblastic lymphoma 9.9
46 giardiasis 9.9
47 filariasis 9.9
48 mansonelliasis 9.9
49 pertussis 9.9
50 onchocerciasis 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 intellectual disability 31 HP:0001249
2 global developmental delay 31 HP:0001263
3 macrocephaly 31 HP:0000256
4 mandibular prognathia 31 HP:0000303
5 delayed speech and language development 31 HP:0000750
6 short stature 31 HP:0004322
7 prominent forehead 31 HP:0011220
8 slurred speech 31 HP:0001350
9 recurrent otitis media 31 HP:0000403
10 anxiety 31 HP:0000739
11 obesity 31 HP:0001513
12 downslanted palpebral fissures 31 HP:0000494
13 polycystic ovaries 31 HP:0000147
14 long face 31 HP:0000276
15 ventriculomegaly 31 HP:0002119
16 malar flattening 31 HP:0000272
17 pointed chin 31 HP:0000307
18 high forehead 31 HP:0000348
19 arnold-chiari malformation 31 HP:0002308
20 high anterior hairline 31 HP:0009890
21 long nose 31 HP:0003189
22 autistic behavior 31 HP:0000729
23 syringomyelia 31 HP:0003396
24 aggressive behavior 31 HP:0000718
25 hirsutism 31 HP:0001007
26 generalized hypotonia 31 HP:0001290
27 irregular menstruation 31 HP:0000858
28 polyphagia 31 HP:0002591
29 long foot 31 HP:0001833
30 shyness 31 HP:0100962
31 overgrowth 31 HP:0001548
32 seizure 31 HP:0001250
33 advanced ossification of carpal bones 31 HP:0004233

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
intellectual disability
ventriculomegaly
syringomyelia
hypotonia
developmental delay
more
Growth Height:
short stature
tall stature

Growth Weight:
obesity

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

Head And Neck Eyes:
downslanting palpebral fissures

Endocrine Features:
menstrual irregularity
polycystic ovary syndrome

Head And Neck Head:
macrocephaly

Head And Neck Ears:
recurrent otitis media

Genitourinary Internal Genitalia Female:
polycystic ovaries

Head And Neck Nose:
long nose

Neurologic Behavioral Psychiatric Manifestations:
autism spectrum disorder
hyperphagia
compulsions
anxiety disorder
behavior troubles
more
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
Ovary, Bone

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. 6 56
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 264) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SETD2 NM_014159.7(SETD2):c.4997A>G (p.Tyr1666Cys)SNV Pathogenic 632591 rs1559720382 3:47142966-47142966 3:47101476-47101476
2 SETD2 NM_014159.7(SETD2):c.6341del (p.Asn2114fs)deletion Pathogenic 222953 rs869025569 3:47098933-47098933 3:47057443-47057443
3 SETD2 NM_014159.7(SETD2):c.5444T>G (p.Leu1815Trp)SNV Pathogenic 222954 rs869025570 3:47125826-47125826 3:47084336-47084336
4 SETD2 NM_014159.7(SETD2):c.820C>T (p.Gln274Ter)SNV Pathogenic 222955 rs869025571 3:47165306-47165306 3:47123816-47123816
5 SETD2 NM_014159.7(SETD2):c.2028del (p.Pro677fs)deletion Pathogenic 222956 rs869025572 3:47164098-47164098 3:47122608-47122608
6 SETD2 NM_014159.7(SETD2):c.5218C>T (p.Arg1740Trp)SNV Pathogenic/Likely pathogenic 388568 rs1057523157 3:47129662-47129662 3:47088172-47088172
7 SETD2 NM_014159.7(SETD2):c.2251C>A (p.Pro751Thr)SNV Conflicting interpretations of pathogenicity 135220 rs115788094 3:47163875-47163875 3:47122385-47122385
8 SETD2 NM_014159.7(SETD2):c.5900G>A (p.Gly1967Asp)SNV Conflicting interpretations of pathogenicity 135204 rs143991928 3:47125370-47125370 3:47083880-47083880
9 SETD2 NM_014159.7(SETD2):c.2155A>G (p.Asn719Asp)SNV Conflicting interpretations of pathogenicity 135211 rs115859828 3:47163971-47163971 3:47122481-47122481
10 SETD2 NM_014159.7(SETD2):c.2819G>T (p.Gly940Val)SNV Conflicting interpretations of pathogenicity 574593 rs751707090 3:47163307-47163307 3:47121817-47121817
11 SETD2 NM_014159.7(SETD2):c.1414C>T (p.Arg472Cys)SNV Conflicting interpretations of pathogenicity 580050 rs771203643 3:47164712-47164712 3:47123222-47123222
12 SETD2 NM_014159.7(SETD2):c.3371C>T (p.Ala1124Val)SNV Conflicting interpretations of pathogenicity 521888 rs538871720 3:47162755-47162755 3:47121265-47121265
13 SETD2 NM_014159.7(SETD2):c.19C>T (p.Gln7Ter)SNV Conflicting interpretations of pathogenicity 521678 rs541943893 3:47205396-47205396 3:47163906-47163906
14 SETD2 NM_014159.7(SETD2):c.1885A>G (p.Lys629Glu)SNV Conflicting interpretations of pathogenicity 542227 rs145650484 3:47164241-47164241 3:47122751-47122751
15 SETD2 NM_014159.7(SETD2):c.676C>G (p.Pro226Ala)SNV Uncertain significance 542220 rs780963440 3:47165450-47165450 3:47123960-47123960
16 SETD2 NM_014159.7(SETD2):c.148G>A (p.Ala50Thr)SNV Uncertain significance 542232 rs191985301 3:47165978-47165978 3:47124488-47124488
17 SETD2 NM_014159.7(SETD2):c.538T>G (p.Ser180Ala)SNV Uncertain significance 542229 rs1318754770 3:47165588-47165588 3:47124098-47124098
18 SETD2 NM_014159.7(SETD2):c.4928A>G (p.Asn1643Ser)SNV Uncertain significance 542224 rs1553694843 3:47143035-47143035 3:47101545-47101545
19 SETD2 NM_014159.7(SETD2):c.2822A>G (p.Lys941Arg)SNV Uncertain significance 542222 rs1398213134 3:47163304-47163304 3:47121814-47121814
20 SETD2 NM_014159.7(SETD2):c.4093G>A (p.Gly1365Arg)SNV Uncertain significance 542233 rs772882978 3:47162033-47162033 3:47120543-47120543
21 SETD2 NM_014159.7(SETD2):c.2959G>A (p.Gly987Arg)SNV Uncertain significance 542221 rs759593227 3:47163167-47163167 3:47121677-47121677
22 SETD2 NM_014159.7(SETD2):c.2224T>G (p.Ser742Ala)SNV Uncertain significance 542219 rs774644234 3:47163902-47163902 3:47122412-47122412
23 SETD2 NM_014159.7(SETD2):c.5942A>G (p.Gln1981Arg)SNV Uncertain significance 542223 rs189529024 3:47125328-47125328 3:47083838-47083838
24 SETD2 NM_014159.7(SETD2):c.5870A>G (p.Asp1957Gly)SNV Uncertain significance 542228 rs1553690289 3:47125400-47125400 3:47083910-47083910
25 SETD2 NM_014159.7(SETD2):c.4121G>A (p.Ser1374Asn)SNV Uncertain significance 542218 rs762222123 3:47162005-47162005 3:47120515-47120515
26 SETD2 NM_014159.7(SETD2):c.2647C>T (p.Leu883Phe)SNV Uncertain significance 542231 rs1269748231 3:47163479-47163479 3:47121989-47121989
27 SETD2 NM_014159.7(SETD2):c.6119G>C (p.Arg2040Pro)SNV Uncertain significance 542230 rs1244929991 3:47103827-47103827 3:47062337-47062337
28 SETD2 NM_014159.7(SETD2):c.6455A>G (p.Tyr2152Cys)SNV Uncertain significance 475532 rs139628048 3:47098819-47098819 3:47057329-47057329
29 SETD2 NM_014159.7(SETD2):c.6241C>T (p.Leu2081Phe)SNV Uncertain significance 475531 rs1553685117 3:47103705-47103705 3:47062215-47062215
30 SETD2 NM_014159.7(SETD2):c.3582A>G (p.Ile1194Met)SNV Uncertain significance 475515 rs1211620525 3:47162544-47162544 3:47121054-47121054
31 SETD2 NM_014159.7(SETD2):c.4027C>A (p.Gln1343Lys)SNV Uncertain significance 450584 rs781672875 3:47162099-47162099 3:47120609-47120609
32 SETD2 NM_014159.7(SETD2):c.6614A>G (p.His2205Arg)SNV Uncertain significance 475533 rs746404627 3:47098660-47098660 3:47057170-47057170
33 SETD2 NM_014159.7(SETD2):c.4344C>G (p.Ser1448=)SNV Uncertain significance 475518 rs992969331 3:47161782-47161782 3:47120292-47120292
34 SETD2 NM_014159.7(SETD2):c.1928A>G (p.His643Arg)SNV Uncertain significance 475497 rs776293901 3:47164198-47164198 3:47122708-47122708
35 SETD2 NM_014159.7(SETD2):c.3361G>A (p.Ala1121Thr)SNV Uncertain significance 475509 rs1336548478 3:47162765-47162765 3:47121275-47121275
36 SETD2 NM_014159.7(SETD2):c.2515A>G (p.Arg839Gly)SNV Uncertain significance 475500 rs1441287639 3:47163611-47163611 3:47122121-47122121
37 SETD2 NM_014159.7(SETD2):c.2299A>G (p.Thr767Ala)SNV Uncertain significance 475499 rs564476604 3:47163827-47163827 3:47122337-47122337
38 SETD2 NM_014159.7(SETD2):c.26C>T (p.Pro9Leu)SNV Uncertain significance 475501 rs1553707534 3:47205389-47205389 3:47163899-47163899
39 SETD2 NM_014159.7(SETD2):c.1610T>G (p.Leu537Arg)SNV Uncertain significance 475495 rs753117350 3:47164516-47164516 3:47123026-47123026
40 SETD2 NM_014159.7(SETD2):c.4487G>A (p.Arg1496Gln)SNV Uncertain significance 475519 rs1553699111 3:47158212-47158212 3:47116722-47116722
41 SETD2 NM_014159.7(SETD2):c.2702G>C (p.Gly901Ala)SNV Uncertain significance 475502 rs1194240525 3:47163424-47163424 3:47121934-47121934
42 SETD2 NM_014159.7(SETD2):c.920C>A (p.Ser307Tyr)SNV Uncertain significance 583033 rs1303561180 3:47165206-47165206 3:47123716-47123716
43 SETD2 NM_014159.7(SETD2):c.94A>G (p.Ile32Val)SNV Uncertain significance 579178 rs1170321784 3:47166032-47166032 3:47124542-47124542
44 SETD2 NM_014159.6(SETD2):c.7350+6T>CSNV Uncertain significance 578649 rs369951554 3:47079150-47079150 3:47037660-47037660
45 SETD2 NM_014159.7(SETD2):c.1103G>A (p.Arg368Gln)SNV Uncertain significance 574938 rs1385695873 3:47165023-47165023 3:47123533-47123533
46 SETD2 NM_014159.7(SETD2):c.5900G>C (p.Gly1967Ala)SNV Uncertain significance 567605 rs143991928 3:47125370-47125370 3:47083880-47083880
47 SETD2 NM_014159.7(SETD2):c.5202G>C (p.Gln1734His)SNV Uncertain significance 577762 rs141847082 3:47129678-47129678 3:47088188-47088188
48 SETD2 NM_014159.7(SETD2):c.2507G>A (p.Cys836Tyr)SNV Uncertain significance 571253 rs1559745772 3:47163619-47163619 3:47122129-47122129
49 SETD2 NM_014159.7(SETD2):c.2894A>G (p.Glu965Gly)SNV Uncertain significance 582921 rs781662505 3:47163232-47163232 3:47121742-47121742
50 SETD2 NM_014159.7(SETD2):c.2942T>C (p.Leu981Ser)SNV Uncertain significance 542226 rs200569407 3:47163184-47163184 3:47121694-47121694

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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