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

LLS MCID: LSC003 MIFTS: 31	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 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:

MalaCards categories:
Global: Genetic diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁷ 616831

MeSH ⁴⁴ D065886

MedGen ⁴² C4085873 CN235340

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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.

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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 74)

#	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	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:

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Symptoms & Phenotypes for Luscan-Lumish Syndrome

Human phenotypes related to Luscan-Lumish Syndrome:

³² (show all 33)

#	Description	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

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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:

⁴¹

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. ⁸ ⁷¹	Lumish HS...Chung WK	26084711	2015
2	Mutations in SETD2 cause a novel overgrowth condition. ⁸ ⁷¹	Luscan A...Cormier-Daire V	24852293	2014
3	Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders. ⁸ ⁷¹	O'Roak BJ...Shendure J	23160955	2012
4	The contribution of de novo coding mutations to autism spectrum disorder. ⁸	Iossifov I...Wigler M	25363768	2014
5	Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations. ⁸	O'Roak BJ...Eichler EE	22495309	2012
6	Two novel cases expanding the phenotype of SETD2-related overgrowth syndrome. ³⁸	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	1030.46	Molecular basis known ⁵⁷ Pathogenic ⁶ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	23160955 24852293 26084711
2	KIF9-AS1	KIF9 Antisense RNA 1	RNA Gene	7.97	GeneCards inferred via : Variants (show sections)

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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

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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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Sources for Luscan-Lumish Syndrome

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⁷³ UMLS via Orphanet

⁷⁴ UniProtKB/Swiss-Prot

⁷⁵ Wikipedia

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