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

MCID: LSC003 MIFTS: 23	Luscan-Lumish Syndrome Categories: Genetic diseases
Genes Variations Tissues Related diseases Symptoms & Phenotypes Download 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

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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 and bone, and related phenotypes are polycystic ovaries and malar flattening

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 20)

#	Related Disease	Score
1	bipolar ll disorder	11.9
2	wilson disease	10.9
3	sleep apnea	10.9
4	diphtheria	10.9
5	kidney disease	10.9
6	fainting	10.9
7	lepromatous leprosy	10.2
8	lymphoma	10.0
9	alcohol dependence	9.8
10	leukemia, acute lymphoblastic	9.8
11	leukemia	9.8
12	lymphedema	9.8
13	lymphoblastic lymphoma	9.8
14	lymphoblastic leukemia	9.8
15	giardiasis	9.8
16	opioid abuse	9.8
17	iron metabolism disease	9.8
18	acute t cell leukemia	9.8
19	amebiasis	9.8
20	primary effusion lymphoma	9.8

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 31)

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

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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

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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	1029.97	Molecular basis known ⁵⁷ 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 172)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	SETD2	NM_014159.6(SETD2): c.6341delA (p.Asn2114Ilefs)	deletion	Pathogenic	rs869025569	GRCh38	Chromosome 3, 47057443: 47057443
2	SETD2	NM_014159.6(SETD2): c.6341delA (p.Asn2114Ilefs)	deletion	Pathogenic	rs869025569	GRCh37	Chromosome 3, 47098933: 47098933
3	SETD2	NM_014159.6(SETD2): c.5444T> G (p.Leu1815Trp)	single nucleotide variant	Pathogenic	rs869025570	GRCh37	Chromosome 3, 47125826: 47125826
4	SETD2	NM_014159.6(SETD2): c.5444T> G (p.Leu1815Trp)	single nucleotide variant	Pathogenic	rs869025570	GRCh38	Chromosome 3, 47084336: 47084336
5	SETD2	NM_014159.6(SETD2): c.820C> T (p.Gln274Ter)	single nucleotide variant	Pathogenic	rs869025571	GRCh37	Chromosome 3, 47165306: 47165306
6	SETD2	NM_014159.6(SETD2): c.820C> T (p.Gln274Ter)	single nucleotide variant	Pathogenic	rs869025571	GRCh38	Chromosome 3, 47123816: 47123816
7	SETD2	NM_014159.6(SETD2): c.2028delT (p.Pro677Leufs)	deletion	Pathogenic	rs869025572	GRCh37	Chromosome 3, 47164098: 47164098
8	SETD2	NM_014159.6(SETD2): c.2028delT (p.Pro677Leufs)	deletion	Pathogenic	rs869025572	GRCh38	Chromosome 3, 47122608: 47122608
9	SETD2	NM_014159.6(SETD2): c.4027C> A (p.Gln1343Lys)	single nucleotide variant	Uncertain significance	rs781672875	GRCh38	Chromosome 3, 47120609: 47120609
10	SETD2	NM_014159.6(SETD2): c.4027C> A (p.Gln1343Lys)	single nucleotide variant	Uncertain significance	rs781672875	GRCh37	Chromosome 3, 47162099: 47162099
11	SETD2	NM_014159.6(SETD2): c.6614A> G (p.His2205Arg)	single nucleotide variant	Uncertain significance	rs746404627	GRCh37	Chromosome 3, 47098660: 47098660
12	SETD2	NM_014159.6(SETD2): c.6614A> G (p.His2205Arg)	single nucleotide variant	Uncertain significance	rs746404627	GRCh38	Chromosome 3, 47057170: 47057170
13	SETD2	NM_014159.6(SETD2): c.6173A> G (p.Asn2058Ser)	single nucleotide variant	Benign	rs116277395	GRCh37	Chromosome 3, 47103773: 47103773
14	SETD2	NM_014159.6(SETD2): c.6173A> G (p.Asn2058Ser)	single nucleotide variant	Benign	rs116277395	GRCh38	Chromosome 3, 47062283: 47062283
15	SETD2	NM_014159.6(SETD2): c.5505T> C (p.Pro1835=)	single nucleotide variant	Likely benign		GRCh37	Chromosome 3, 47125765: 47125765
16	SETD2	NM_014159.6(SETD2): c.5505T> C (p.Pro1835=)	single nucleotide variant	Likely benign		GRCh38	Chromosome 3, 47084275: 47084275
17	SETD2	NM_014159.6(SETD2): c.4989G> A (p.Thr1663=)	single nucleotide variant	Likely benign	rs148325978	GRCh37	Chromosome 3, 47142974: 47142974
18	SETD2	NM_014159.6(SETD2): c.4989G> A (p.Thr1663=)	single nucleotide variant	Likely benign	rs148325978	GRCh38	Chromosome 3, 47101484: 47101484
19	SETD2	NM_014159.6(SETD2): c.4344C> G (p.Ser1448=)	single nucleotide variant	Uncertain significance	rs992969331	GRCh37	Chromosome 3, 47161782: 47161782
20	SETD2	NM_014159.6(SETD2): c.4344C> G (p.Ser1448=)	single nucleotide variant	Uncertain significance	rs992969331	GRCh38	Chromosome 3, 47120292: 47120292
21	SETD2	NM_014159.6(SETD2): c.4320A> T (p.Pro1440=)	single nucleotide variant	Benign	rs74485823	GRCh37	Chromosome 3, 47161806: 47161806
22	SETD2	NM_014159.6(SETD2): c.4320A> T (p.Pro1440=)	single nucleotide variant	Benign	rs74485823	GRCh38	Chromosome 3, 47120316: 47120316
23	SETD2	NM_014159.6(SETD2): c.2776A> G (p.Lys926Glu)	single nucleotide variant	Uncertain significance		GRCh37	Chromosome 3, 47163350: 47163350
24	SETD2	NM_014159.6(SETD2): c.2776A> G (p.Lys926Glu)	single nucleotide variant	Uncertain significance		GRCh38	Chromosome 3, 47121860: 47121860
25	SETD2	NM_014159.6(SETD2): c.1928A> G (p.His643Arg)	single nucleotide variant	Uncertain significance	rs776293901	GRCh37	Chromosome 3, 47164198: 47164198
26	SETD2	NM_014159.6(SETD2): c.1928A> G (p.His643Arg)	single nucleotide variant	Uncertain significance	rs776293901	GRCh38	Chromosome 3, 47122708: 47122708
27	SETD2	NM_014159.6(SETD2): c.799G> A (p.Val267Ile)	single nucleotide variant	Uncertain significance	rs186148199	GRCh37	Chromosome 3, 47165327: 47165327
28	SETD2	NM_014159.6(SETD2): c.799G> A (p.Val267Ile)	single nucleotide variant	Uncertain significance	rs186148199	GRCh38	Chromosome 3, 47123837: 47123837
29	SETD2	NM_014159.6(SETD2): c.590C> T (p.Ala197Val)	single nucleotide variant	Uncertain significance	rs374950143	GRCh37	Chromosome 3, 47165536: 47165536
30	SETD2	NM_014159.6(SETD2): c.590C> T (p.Ala197Val)	single nucleotide variant	Uncertain significance	rs374950143	GRCh38	Chromosome 3, 47124046: 47124046
31	SETD2	NM_014159.6(SETD2): c.336G> A (p.Ser112=)	single nucleotide variant	Likely benign	rs965088151	GRCh37	Chromosome 3, 47165790: 47165790
32	SETD2	NM_014159.6(SETD2): c.336G> A (p.Ser112=)	single nucleotide variant	Likely benign	rs965088151	GRCh38	Chromosome 3, 47124300: 47124300
33	SETD2	NM_014159.6(SETD2): c.7060A> G (p.Thr2354Ala)	single nucleotide variant	Benign	rs145377213	GRCh37	Chromosome 3, 47088015: 47088015
34	SETD2	NM_014159.6(SETD2): c.7060A> G (p.Thr2354Ala)	single nucleotide variant	Benign	rs145377213	GRCh38	Chromosome 3, 47046525: 47046525
35	SETD2	NM_014159.6(SETD2): c.6109A> G (p.Thr2037Ala)	single nucleotide variant	Likely benign	rs113798770	GRCh37	Chromosome 3, 47108560: 47108560
36	SETD2	NM_014159.6(SETD2): c.6109A> G (p.Thr2037Ala)	single nucleotide variant	Likely benign	rs113798770	GRCh38	Chromosome 3, 47067070: 47067070
37	SETD2	NM_014159.6(SETD2): c.4059C> T (p.Ser1353=)	single nucleotide variant	Benign	rs113560046	GRCh37	Chromosome 3, 47162067: 47162067
38	SETD2	NM_014159.6(SETD2): c.4059C> T (p.Ser1353=)	single nucleotide variant	Benign	rs113560046	GRCh38	Chromosome 3, 47120577: 47120577
39	SETD2	NM_014159.6(SETD2): c.3422C> T (p.Pro1141Leu)	single nucleotide variant	Likely benign	rs142723093	GRCh37	Chromosome 3, 47162704: 47162704
40	SETD2	NM_014159.6(SETD2): c.3422C> T (p.Pro1141Leu)	single nucleotide variant	Likely benign	rs142723093	GRCh38	Chromosome 3, 47121214: 47121214
41	SETD2	NM_014159.6(SETD2): c.3390G> A (p.Lys1130=)	single nucleotide variant	Likely benign	rs773475708	GRCh37	Chromosome 3, 47162736: 47162736
42	SETD2	NM_014159.6(SETD2): c.3390G> A (p.Lys1130=)	single nucleotide variant	Likely benign	rs773475708	GRCh38	Chromosome 3, 47121246: 47121246
43	SETD2	NM_014159.6(SETD2): c.3361G> A (p.Ala1121Thr)	single nucleotide variant	Uncertain significance		GRCh37	Chromosome 3, 47162765: 47162765
44	SETD2	NM_014159.6(SETD2): c.3361G> A (p.Ala1121Thr)	single nucleotide variant	Uncertain significance		GRCh38	Chromosome 3, 47121275: 47121275
45	SETD2	NM_014159.6(SETD2): c.3249A> C (p.Thr1083=)	single nucleotide variant	Benign	rs80241480	GRCh37	Chromosome 3, 47162877: 47162877
46	SETD2	NM_014159.6(SETD2): c.3249A> C (p.Thr1083=)	single nucleotide variant	Benign	rs80241480	GRCh38	Chromosome 3, 47121387: 47121387
47	SETD2	NM_014159.6(SETD2): c.2730A> G (p.Ala910=)	single nucleotide variant	Likely benign	rs377041426	GRCh37	Chromosome 3, 47163396: 47163396
48	SETD2	NM_014159.6(SETD2): c.2730A> G (p.Ala910=)	single nucleotide variant	Likely benign	rs377041426	GRCh38	Chromosome 3, 47121906: 47121906
49	SETD2	NM_014159.6(SETD2): c.2515A> G (p.Arg839Gly)	single nucleotide variant	Uncertain significance		GRCh37	Chromosome 3, 47163611: 47163611
50	SETD2	NM_014159.6(SETD2): c.2515A> G (p.Arg839Gly)	single nucleotide variant	Uncertain significance		GRCh38	Chromosome 3, 47122121: 47122121

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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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