Luscan-Lumish Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

LLS MCID: LSC003 MIFTS: 32	Luscan-Lumish Syndrome (LLS) Categories: Genetic diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

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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:

MalaCards categories:
Global: Genetic diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁶ 616831

MeSH ⁴³ D065886

MedGen ⁴¹ C4085873 CN235340

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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.

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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
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:

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Symptoms & Phenotypes for Luscan-Lumish Syndrome

Human phenotypes related to Luscan-Lumish Syndrome:

³¹ (show all 33)

#	Description	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

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Drugs & Therapeutics for Luscan-Lumish Syndrome

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

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Genetic Tests for Luscan-Lumish Syndrome

Genetic tests related to Luscan-Lumish Syndrome:

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

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Anatomical Context for Luscan-Lumish Syndrome

MalaCards organs/tissues related to Luscan-Lumish Syndrome:

⁴⁰

Ovary, Bone

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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	Lumish HS...Chung WK	26084711	2015
2	Mutations in SETD2 cause a novel overgrowth condition. ⁵⁶ ⁶	Luscan A...Cormier-Daire V	24852293	2014
3	Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders. ⁵⁶ ⁶	O'Roak BJ...Shendure J	23160955	2012
4	The contribution of de novo coding mutations to autism spectrum disorder. ⁵⁶	Iossifov I...Wigler M	25363768	2014
5	Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations. ⁵⁶	O'Roak BJ...Eichler EE	22495309	2012
6	Two novel cases expanding the phenotype of SETD2-related overgrowth syndrome. ⁶¹	van Rij MC...van Belzen MJ	29681085	2018

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Genes for Luscan-Lumish Syndrome

Genes related to Luscan-Lumish Syndrome (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	SETD2	SET Domain Containing 2, Histone Lysine Methyltransferase	Protein Coding	1020.77	Molecular basis known ⁵⁶ Pathogenic ⁶ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	23160955 24852293 26084711

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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>C	SNV	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

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Expression for Luscan-Lumish Syndrome

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

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Pathways for Luscan-Lumish Syndrome

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GO Terms for Luscan-Lumish Syndrome

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Luscan-Lumish Syndrome (LLS)

Aliases & Classifications for Luscan-Lumish Syndrome

MalaCards integrated aliases for Luscan-Lumish Syndrome:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Luscan-Lumish Syndrome

Related Diseases for Luscan-Lumish Syndrome

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

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

Symptoms & Phenotypes for Luscan-Lumish Syndrome

Human phenotypes related to Luscan-Lumish Syndrome:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Drugs & Therapeutics for Luscan-Lumish Syndrome

Genetic Tests for Luscan-Lumish Syndrome

Genetic tests related to Luscan-Lumish Syndrome:

Anatomical Context for Luscan-Lumish Syndrome

MalaCards organs/tissues related to Luscan-Lumish Syndrome:

Publications for Luscan-Lumish Syndrome

Articles related to Luscan-Lumish Syndrome:

Genes for Luscan-Lumish Syndrome

Genes related to Luscan-Lumish Syndrome (1 elite genes):

Variations for Luscan-Lumish Syndrome

ClinVar genetic disease variations for Luscan-Lumish Syndrome:

Expression for Luscan-Lumish Syndrome

Pathways for Luscan-Lumish Syndrome

GO Terms for Luscan-Lumish Syndrome

Sources for Luscan-Lumish Syndrome