LLS
MCID: LSC003
MIFTS: 31

Luscan-Lumish Syndrome (LLS)

Categories: Genetic diseases

Aliases & Classifications for Luscan-Lumish Syndrome

MalaCards integrated aliases for Luscan-Lumish Syndrome:

Name: Luscan-Lumish Syndrome 57 74 29 6 40
Lls 57 74

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
luscan-lumish syndrome:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 616831
MeSH 44 D065886

Summaries for Luscan-Lumish Syndrome

OMIM : 57 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 ovary and bone, and related phenotypes are macrocephaly and malar flattening

UniProtKB/Swiss-Prot : 74 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 74)
# 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 lung cancer 9.9
25 osteogenic sarcoma 9.9
26 pulmonary alveolar microlithiasis 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 adiaspiromycosis 9.9
37 mantle cell lymphoma 9.9
38 limb ischemia 9.9
39 sexual disorder 9.9
40 lymphoma 9.9
41 scoliosis 9.9
42 lymphoblastic lymphoma 9.9
43 giardiasis 9.9
44 filariasis 9.9
45 mansonelliasis 9.9
46 pertussis 9.9
47 onchocerciasis 9.9
48 coronary artery anomaly 9.9
49 inflammatory spondylopathy 9.9
50 filarial elephantiasis 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:

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

Symptoms via clinical synopsis from OMIM:

57
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:

41
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. 8 71
26084711 2015
2
Mutations in SETD2 cause a novel overgrowth condition. 8 71
24852293 2014
3
Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders. 8 71
23160955 2012
4
The contribution of de novo coding mutations to autism spectrum disorder. 8
25363768 2014
5
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations. 8
22495309 2012
6
Two novel cases expanding the phenotype of SETD2-related overgrowth syndrome. 38
29681085 2018

Variations for Luscan-Lumish Syndrome

ClinVar genetic disease variations for Luscan-Lumish Syndrome:

6 (show top 50) (show all 165)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 SETD2 NM_014159.6(SETD2): c.5218C> T (p.Arg1740Trp) single nucleotide variant Pathogenic rs1057523157 3:47129662-47129662 3:47088172-47088172
2 SETD2 NM_014159.6(SETD2): c.6341del (p.Asn2114fs) deletion Pathogenic rs869025569 3:47098933-47098933 3:47057443-47057443
3 SETD2 NM_014159.6(SETD2): c.5444T> G (p.Leu1815Trp) single nucleotide variant Pathogenic rs869025570 3:47125826-47125826 3:47084336-47084336
4 SETD2 NM_014159.6(SETD2): c.820C> T (p.Gln274Ter) single nucleotide variant Pathogenic rs869025571 3:47165306-47165306 3:47123816-47123816
5 SETD2 NM_014159.6(SETD2): c.2028del (p.Pro677fs) deletion Pathogenic rs869025572 3:47164098-47164098 3:47122608-47122608
6 SETD2 NM_014159.6(SETD2): c.4997A> G (p.Tyr1666Cys) single nucleotide variant Pathogenic 3:47142966-47142966 3:47101476-47101476
7 SETD2 NM_014159.6(SETD2): c.5900G> A (p.Gly1967Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs143991928 3:47125370-47125370 3:47083880-47083880
8 SETD2 NM_014159.6(SETD2): c.19C> T (p.Gln7Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs541943893 3:47205396-47205396 3:47163906-47163906
9 SETD2 NM_014159.6(SETD2): c.2251C> A (p.Pro751Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs115788094 3:47163875-47163875 3:47122385-47122385
10 SETD2 NM_014159.6(SETD2): c.538T> G (p.Ser180Ala) single nucleotide variant Uncertain significance rs1318754770 3:47165588-47165588 3:47124098-47124098
11 SETD2 NM_014159.6(SETD2): c.5812G> A (p.Val1938Ile) single nucleotide variant Uncertain significance rs116417406 3:47125458-47125458 3:47083968-47083968
12 SETD2 NM_014159.6(SETD2): c.2794G> A (p.Val932Ile) single nucleotide variant Uncertain significance rs141532143 3:47163332-47163332 3:47121842-47121842
13 SETD2 NM_014159.6(SETD2): c.3131G> A (p.Ser1044Asn) single nucleotide variant Uncertain significance rs587778673 3:47162995-47162995 3:47121505-47121505
14 SETD2 NM_014159.6(SETD2): c.2450T> C (p.Met817Thr) single nucleotide variant Uncertain significance rs115023083 3:47163676-47163676 3:47122186-47122186
15 SETD2 NM_014159.6(SETD2): c.6455A> G (p.Tyr2152Cys) single nucleotide variant Uncertain significance rs139628048 3:47098819-47098819 3:47057329-47057329
16 SETD2 NM_014159.6(SETD2): c.6241C> T (p.Leu2081Phe) single nucleotide variant Uncertain significance rs1553685117 3:47103705-47103705 3:47062215-47062215
17 SETD2 NM_014159.6(SETD2): c.6119G> C (p.Arg2040Pro) single nucleotide variant Uncertain significance rs1244929991 3:47103827-47103827 3:47062337-47062337
18 SETD2 NM_014159.6(SETD2): c.4093G> A (p.Gly1365Arg) single nucleotide variant Uncertain significance rs772882978 3:47162033-47162033 3:47120543-47120543
19 SETD2 NM_014159.6(SETD2): c.2959G> A (p.Gly987Arg) single nucleotide variant Uncertain significance rs759593227 3:47163167-47163167 3:47121677-47121677
20 SETD2 NM_014159.6(SETD2): c.500C> T (p.Pro167Leu) single nucleotide variant Uncertain significance rs78682369 3:47165626-47165626 3:47124136-47124136
21 SETD2 NM_014159.6(SETD2): c.335C> T (p.Ser112Leu) single nucleotide variant Uncertain significance rs187767340 3:47165791-47165791 3:47124301-47124301
22 SETD2 NM_014159.6(SETD2): c.3582A> G (p.Ile1194Met) single nucleotide variant Uncertain significance rs1211620525 3:47162544-47162544 3:47121054-47121054
23 SETD2 NM_014159.6(SETD2): c.3484C> T (p.His1162Tyr) single nucleotide variant Uncertain significance rs137871492 3:47162642-47162642 3:47121152-47121152
24 SETD2 NM_014159.6(SETD2): c.4121G> A (p.Ser1374Asn) single nucleotide variant Uncertain significance rs762222123 3:47162005-47162005 3:47120515-47120515
25 SETD2 NM_014159.6(SETD2): c.2647C> T (p.Leu883Phe) single nucleotide variant Uncertain significance rs1269748231 3:47163479-47163479 3:47121989-47121989
26 SETD2 NM_014159.6(SETD2): c.2224T> G (p.Ser742Ala) single nucleotide variant Uncertain significance rs774644234 3:47163902-47163902 3:47122412-47122412
27 SETD2 NM_014159.6(SETD2): c.2822A> G (p.Lys941Arg) single nucleotide variant Uncertain significance rs1398213134 3:47163304-47163304 3:47121814-47121814
28 SETD2 NM_014159.6(SETD2): c.5942A> G (p.Gln1981Arg) single nucleotide variant Uncertain significance rs189529024 3:47125328-47125328 3:47083838-47083838
29 SETD2 NM_014159.6(SETD2): c.5870A> G (p.Asp1957Gly) single nucleotide variant Uncertain significance rs1553690289 3:47125400-47125400 3:47083910-47083910
30 SETD2 NM_014159.6(SETD2): c.4928A> G (p.Asn1643Ser) single nucleotide variant Uncertain significance rs1553694843 3:47143035-47143035 3:47101545-47101545
31 SETD2 NM_014159.6(SETD2): c.1885A> G (p.Lys629Glu) single nucleotide variant Uncertain significance rs145650484 3:47164241-47164241 3:47122751-47122751
32 SETD2 NM_014159.6(SETD2): c.676C> G (p.Pro226Ala) single nucleotide variant Uncertain significance rs780963440 3:47165450-47165450 3:47123960-47123960
33 SETD2 NM_014159.6(SETD2): c.4027C> A (p.Gln1343Lys) single nucleotide variant Uncertain significance rs781672875 3:47162099-47162099 3:47120609-47120609
34 SETD2 NM_014159.6(SETD2): c.1928A> G (p.His643Arg) single nucleotide variant Uncertain significance rs776293901 3:47164198-47164198 3:47122708-47122708
35 SETD2 NM_014159.6(SETD2): c.6614A> G (p.His2205Arg) single nucleotide variant Uncertain significance rs746404627 3:47098660-47098660 3:47057170-47057170
36 SETD2 NM_014159.6(SETD2): c.4344C> G (p.Ser1448=) single nucleotide variant Uncertain significance rs992969331 3:47161782-47161782 3:47120292-47120292
37 SETD2 NM_014159.6(SETD2): c.2776A> G (p.Lys926Glu) single nucleotide variant Uncertain significance rs1167396235 3:47163350-47163350 3:47121860-47121860
38 SETD2 NM_014159.6(SETD2): c.799G> A (p.Val267Ile) single nucleotide variant Uncertain significance rs186148199 3:47165327-47165327 3:47123837-47123837
39 SETD2 NM_014159.6(SETD2): c.590C> T (p.Ala197Val) single nucleotide variant Uncertain significance rs374950143 3:47165536-47165536 3:47124046-47124046
40 SETD2 NM_014159.6(SETD2): c.3361G> A (p.Ala1121Thr) single nucleotide variant Uncertain significance rs1336548478 3:47162765-47162765 3:47121275-47121275
41 SETD2 NM_014159.6(SETD2): c.2515A> G (p.Arg839Gly) single nucleotide variant Uncertain significance rs1441287639 3:47163611-47163611 3:47122121-47122121
42 SETD2 NM_014159.6(SETD2): c.2299A> G (p.Thr767Ala) single nucleotide variant Uncertain significance rs564476604 3:47163827-47163827 3:47122337-47122337
43 SETD2 NM_014159.6(SETD2): c.1610T> G (p.Leu537Arg) single nucleotide variant Uncertain significance rs753117350 3:47164516-47164516 3:47123026-47123026
44 SETD2 NM_014159.6(SETD2): c.26C> T (p.Pro9Leu) single nucleotide variant Uncertain significance rs1553707534 3:47205389-47205389 3:47163899-47163899
45 SETD2 NM_014159.6(SETD2): c.4487G> A (p.Arg1496Gln) single nucleotide variant Uncertain significance rs1553699111 3:47158212-47158212 3:47116722-47116722
46 SETD2 NM_014159.6(SETD2): c.2702G> C (p.Gly901Ala) single nucleotide variant Uncertain significance rs1194240525 3:47163424-47163424 3:47121934-47121934
47 SETD2 NM_014159.6(SETD2): c.5633T> C (p.Phe1878Ser) single nucleotide variant Uncertain significance rs587778665 3:47125637-47125637 3:47084147-47084147
48 SETD2 NM_014159.6(SETD2): c.1579A> G (p.Ile527Val) single nucleotide variant Uncertain significance rs373069098 3:47164547-47164547 3:47123057-47123057
49 SETD2 NM_014159.6(SETD2): c.1687A> G (p.Ile563Val) single nucleotide variant Uncertain significance rs587778668 3:47164439-47164439 3:47122949-47122949
50 SETD2 NM_014159.6(SETD2): c.2155A> G (p.Asn719Asp) single nucleotide variant Uncertain significance rs115859828 3:47163971-47163971 3:47122481-47122481

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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