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 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.

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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 79)

#	Related Disease	Score
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:

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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	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

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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

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

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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. ⁵⁶ ⁶	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	1020.3	Molecular basis known ⁵⁶ Pathogenic ⁶ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	26084711 24852293 23160955

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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>C	SNV	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

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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