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

LLS MCID: LSC003 MIFTS: 29	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 ⁷⁵ ²⁹ ⁶ ⁴⁰

Lls ⁵⁷ ⁷⁵

Characteristics:

OMIM:

⁵⁷

Inheritance:
autosomal dominant

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

HPO:

³²

luscan-lumish syndrome:
Onset and clinical course phenotypic variability
Inheritance autosomal dominant inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁷ 616831

MedGen ⁴² C4085873 CN235340

MeSH ⁴⁴ D065886

SNOMED-CT via HPO ⁶⁹ 263681008 69878008 109504005 more

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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 wilson disease. An important gene associated with Luscan-Lumish Syndrome is SETD2 (SET Domain Containing 2). Affiliated tissues include ovary, bone and lung, and related phenotypes are malar flattening and obesity

UniProtKB/Swiss-Prot : ⁷⁵ 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 all 40)

#	Related Disease	Score
1	bipolar ll disorder	12.1
2	wilson disease	11.0
3	sleep apnea	11.0
4	diphtheria	11.0
5	kidney disease	11.0
6	fainting	11.0
7	lepromatous leprosy	10.3
8	noonan syndrome 4	10.2
9	lymphoma	10.1
10	myocardial infarction	10.0
11	spondyloarthropathy 1	9.9
12	colorectal cancer	9.9
13	disorganization, mouse, homolog of	9.9
14	leprosy 3	9.9
15	macular degeneration, age-related, 1	9.9
16	noonan syndrome 3	9.9
17	leukemia, acute lymphoblastic	9.9
18	human herpesvirus 8	9.9
19	cataract	9.9
20	leukemia	9.9
21	lymphedema	9.9
22	lymphoblastic lymphoma	9.9
23	mantle cell lymphoma	9.9
24	variola major	9.9
25	intrahepatic cholestasis of pregnancy	9.9
26	lymphocytic leukemia	9.9
27	giardiasis	9.9
28	opioid abuse	9.9
29	cholestasis	9.9
30	interstitial lung disease	9.9
31	acute t cell leukemia	9.9
32	spondylitis	9.9
33	lung disease	9.9
34	lymphosarcoma	9.9
35	smallpox	9.9
36	amebiasis	9.9
37	brain tumor, childhood	9.9
38	hansen's disease	9.9
39	primary effusion lymphoma	9.9
40	precursor t-cell acute lymphoblastic leukemia	9.9

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

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Symptoms & Phenotypes for Luscan-Lumish Syndrome

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

Human phenotypes related to Luscan-Lumish Syndrome:

³² (show all 32)

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

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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, Lung, Brain, Kidney, T Cells, Liver

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Publications for Luscan-Lumish Syndrome

Articles related to Luscan-Lumish Syndrome:

#	Title	Authors	Year
1	Linear least square (LLS) method for pixel-resolution analysis of polarization dependent SHG images of collagen fibrils. ( 26074581 )	Rou?de D...Tiaho F	2015
2	Electrochemical liquid-liquid-solid (ec-LLS) crystal growth: a low-temperature strategy for covalent semiconductor crystal growth. ( 26132141 )	Fahrenkrug E...Maldonado S	2015
3	Laparoscopic liver sectionectomy 2 and 3 (LLS 2 and 3): towards the "gold standard". ( 19466378 )	Azagra JS...Schmitz B	2009
4	Chemical properties of lipopolysaccharide-like substance (LLS) extracted from Leptospira interrogans serovar canicola strain Moulton. ( 3683216 )	Shimizu T...Yanagihara Y	1987
5	Leukemic lymphosarcoma (LLS) with monoclonal IgM: idiotypic specificity on the cell surface and in the cytoplasm of lymphosarcoma cells. ( 581267 )	Sugai S...Konda S	1978

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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	Protein Coding	1030.2	Molecular basis known ⁵⁷ Pathogenic ⁶ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	24852293 23160955 26084711
2	KIF9-AS1	KIF9 Antisense RNA 1	RNA Gene	7.65	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 266)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	SETD2	NM_014159.6(SETD2): c.5812G> A (p.Val1938Ile)	single nucleotide variant	Uncertain significance	rs116417406	GRCh38	Chromosome 3, 47083968: 47083968
2	SETD2	NM_014159.6(SETD2): c.5812G> A (p.Val1938Ile)	single nucleotide variant	Uncertain significance	rs116417406	GRCh37	Chromosome 3, 47125458: 47125458
3	SETD2	NM_014159.6(SETD2): c.5900G> A (p.Gly1967Asp)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs143991928	GRCh38	Chromosome 3, 47083880: 47083880
4	SETD2	NM_014159.6(SETD2): c.5900G> A (p.Gly1967Asp)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs143991928	GRCh37	Chromosome 3, 47125370: 47125370
5	SETD2	NM_014159.6(SETD2): c.5633T> C (p.Phe1878Ser)	single nucleotide variant	Uncertain significance	rs587778665	GRCh38	Chromosome 3, 47084147: 47084147
6	SETD2	NM_014159.6(SETD2): c.5633T> C (p.Phe1878Ser)	single nucleotide variant	Uncertain significance	rs587778665	GRCh37	Chromosome 3, 47125637: 47125637
7	SETD2	NM_014159.6(SETD2): c.1579A> G (p.Ile527Val)	single nucleotide variant	Uncertain significance	rs373069098	GRCh38	Chromosome 3, 47123057: 47123057
8	SETD2	NM_014159.6(SETD2): c.1579A> G (p.Ile527Val)	single nucleotide variant	Uncertain significance	rs373069098	GRCh37	Chromosome 3, 47164547: 47164547
9	SETD2	NM_014159.6(SETD2): c.1687A> G (p.Ile563Val)	single nucleotide variant	Uncertain significance	rs587778668	GRCh38	Chromosome 3, 47122949: 47122949
10	SETD2	NM_014159.6(SETD2): c.1687A> G (p.Ile563Val)	single nucleotide variant	Uncertain significance	rs587778668	GRCh37	Chromosome 3, 47164439: 47164439
11	SETD2	NM_014159.6(SETD2): c.2155A> G (p.Asn719Asp)	single nucleotide variant	Uncertain significance	rs115859828	GRCh38	Chromosome 3, 47122481: 47122481
12	SETD2	NM_014159.6(SETD2): c.2155A> G (p.Asn719Asp)	single nucleotide variant	Uncertain significance	rs115859828	GRCh37	Chromosome 3, 47163971: 47163971
13	SETD2	NM_014159.6(SETD2): c.3097A> G (p.Thr1033Ala)	single nucleotide variant	Likely benign	rs145759179	GRCh38	Chromosome 3, 47121539: 47121539
14	SETD2	NM_014159.6(SETD2): c.3097A> G (p.Thr1033Ala)	single nucleotide variant	Likely benign	rs145759179	GRCh37	Chromosome 3, 47163029: 47163029
15	SETD2	NM_014159.6(SETD2): c.3229A> G (p.Thr1077Ala)	single nucleotide variant	Likely benign	rs114719990	GRCh37	Chromosome 3, 47162897: 47162897
16	SETD2	NM_014159.6(SETD2): c.3229A> G (p.Thr1077Ala)	single nucleotide variant	Likely benign	rs114719990	GRCh38	Chromosome 3, 47121407: 47121407
17	SETD2	NM_014159.6(SETD2): c.1775C> A (p.Thr592Lys)	single nucleotide variant	Likely benign	rs115569620	GRCh37	Chromosome 3, 47164351: 47164351
18	SETD2	NM_014159.6(SETD2): c.1775C> A (p.Thr592Lys)	single nucleotide variant	Likely benign	rs115569620	GRCh38	Chromosome 3, 47122861: 47122861
19	SETD2	NM_014159.6(SETD2): c.2251C> A (p.Pro751Thr)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs115788094	GRCh37	Chromosome 3, 47163875: 47163875
20	SETD2	NM_014159.6(SETD2): c.2251C> A (p.Pro751Thr)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs115788094	GRCh38	Chromosome 3, 47122385: 47122385
21	SETD2	NM_014159.6(SETD2): c.2543C> T (p.Ala848Val)	single nucleotide variant	Benign/Likely benign	rs75248784	GRCh37	Chromosome 3, 47163583: 47163583
22	SETD2	NM_014159.6(SETD2): c.2543C> T (p.Ala848Val)	single nucleotide variant	Benign/Likely benign	rs75248784	GRCh38	Chromosome 3, 47122093: 47122093
23	SETD2	NM_014159.6(SETD2): c.2783C> G (p.Thr928Arg)	single nucleotide variant	Benign	rs72895708	GRCh37	Chromosome 3, 47163343: 47163343
24	SETD2	NM_014159.6(SETD2): c.2783C> G (p.Thr928Arg)	single nucleotide variant	Benign	rs72895708	GRCh38	Chromosome 3, 47121853: 47121853
25	SETD2	NM_014159.6(SETD2): c.310C> A (p.Pro104Thr)	single nucleotide variant	Likely benign	rs539506462	GRCh37	Chromosome 3, 47165816: 47165816
26	SETD2	NM_014159.6(SETD2): c.310C> A (p.Pro104Thr)	single nucleotide variant	Likely benign	rs539506462	GRCh38	Chromosome 3, 47124326: 47124326
27	SETD2	NM_014159.6(SETD2): c.557C> T (p.Pro186Leu)	single nucleotide variant	Benign	rs78759480	GRCh37	Chromosome 3, 47165569: 47165569
28	SETD2	NM_014159.6(SETD2): c.557C> T (p.Pro186Leu)	single nucleotide variant	Benign	rs78759480	GRCh38	Chromosome 3, 47124079: 47124079
29	SETD2	NM_014159.6(SETD2): c.2302G> C (p.Val768Leu)	single nucleotide variant	Benign/Likely benign	rs9311404	GRCh37	Chromosome 3, 47163824: 47163824
30	SETD2	NM_014159.6(SETD2): c.2302G> C (p.Val768Leu)	single nucleotide variant	Benign/Likely benign	rs9311404	GRCh38	Chromosome 3, 47122334: 47122334
31	SETD2	NM_014159.6(SETD2): c.2704G> C (p.Glu902Gln)	single nucleotide variant	Benign	rs58906143	GRCh37	Chromosome 3, 47163422: 47163422
32	SETD2	NM_014159.6(SETD2): c.2704G> C (p.Glu902Gln)	single nucleotide variant	Benign	rs58906143	GRCh38	Chromosome 3, 47121932: 47121932
33	SETD2	NM_014159.6(SETD2): c.2794G> A (p.Val932Ile)	single nucleotide variant	Uncertain significance	rs141532143	GRCh37	Chromosome 3, 47163332: 47163332
34	SETD2	NM_014159.6(SETD2): c.2794G> A (p.Val932Ile)	single nucleotide variant	Uncertain significance	rs141532143	GRCh38	Chromosome 3, 47121842: 47121842
35	SETD2	NM_014159.6(SETD2): c.2450T> C (p.Met817Thr)	single nucleotide variant	Uncertain significance	rs115023083	GRCh37	Chromosome 3, 47163676: 47163676
36	SETD2	NM_014159.6(SETD2): c.2450T> C (p.Met817Thr)	single nucleotide variant	Uncertain significance	rs115023083	GRCh38	Chromosome 3, 47122186: 47122186
37	SETD2	NM_014159.6(SETD2): c.6341delA (p.Asn2114Ilefs)	deletion	Pathogenic	rs869025569	GRCh38	Chromosome 3, 47057443: 47057443
38	SETD2	NM_014159.6(SETD2): c.6341delA (p.Asn2114Ilefs)	deletion	Pathogenic	rs869025569	GRCh37	Chromosome 3, 47098933: 47098933
39	SETD2	NM_014159.6(SETD2): c.5444T> G (p.Leu1815Trp)	single nucleotide variant	Pathogenic	rs869025570	GRCh37	Chromosome 3, 47125826: 47125826
40	SETD2	NM_014159.6(SETD2): c.5444T> G (p.Leu1815Trp)	single nucleotide variant	Pathogenic	rs869025570	GRCh38	Chromosome 3, 47084336: 47084336
41	SETD2	NM_014159.6(SETD2): c.820C> T (p.Gln274Ter)	single nucleotide variant	Pathogenic	rs869025571	GRCh37	Chromosome 3, 47165306: 47165306
42	SETD2	NM_014159.6(SETD2): c.820C> T (p.Gln274Ter)	single nucleotide variant	Pathogenic	rs869025571	GRCh38	Chromosome 3, 47123816: 47123816
43	SETD2	NM_014159.6(SETD2): c.2028delT (p.Pro677Leufs)	deletion	Pathogenic	rs869025572	GRCh37	Chromosome 3, 47164098: 47164098
44	SETD2	NM_014159.6(SETD2): c.2028delT (p.Pro677Leufs)	deletion	Pathogenic	rs869025572	GRCh38	Chromosome 3, 47122608: 47122608
45	SETD2	NM_014159.6(SETD2): c.4027C> A (p.Gln1343Lys)	single nucleotide variant	Uncertain significance	rs781672875	GRCh37	Chromosome 3, 47162099: 47162099
46	SETD2	NM_014159.6(SETD2): c.4027C> A (p.Gln1343Lys)	single nucleotide variant	Uncertain significance	rs781672875	GRCh38	Chromosome 3, 47120609: 47120609
47	SETD2	NM_014159.6(SETD2): c.6614A> G (p.His2205Arg)	single nucleotide variant	Uncertain significance	rs746404627	GRCh37	Chromosome 3, 47098660: 47098660
48	SETD2	NM_014159.6(SETD2): c.6614A> G (p.His2205Arg)	single nucleotide variant	Uncertain significance	rs746404627	GRCh38	Chromosome 3, 47057170: 47057170
49	SETD2	NM_014159.6(SETD2): c.6173A> G (p.Asn2058Ser)	single nucleotide variant	Benign	rs116277395	GRCh37	Chromosome 3, 47103773: 47103773
50	SETD2	NM_014159.6(SETD2): c.6173A> G (p.Asn2058Ser)	single nucleotide variant	Benign	rs116277395	GRCh38	Chromosome 3, 47062283: 47062283

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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

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Human phenotypes related to Luscan-Lumish Syndrome:

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