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

LLS MCID: LSC003 MIFTS: 30	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 ⁷³ ³⁶ ²⁹ ⁶ ³⁹

Lls ⁵⁷ ⁷³

Characteristics:

OMIM®:

⁵⁷ (Updated 05-Mar-2021)

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® ⁵⁷ 616831

KEGG ³⁶ H02444

MeSH ⁴⁴ D065886

MedGen ⁴¹ 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) (Updated 05-Mar-2021)

MalaCards based summary : Luscan-Lumish Syndrome, also known as lls, is related to alacrima, achalasia, and mental retardation syndrome and pituitary adenoma. An important gene associated with Luscan-Lumish Syndrome is SETD2 (SET Domain Containing 2, Histone Lysine Methyltransferase). Affiliated tissues include ovary, and related phenotypes are macrocephaly and intellectual disability

KEGG : ³⁶ Luscan-Lumish syndrome is an overgrowth condition caused by mutations in SETD2. It is characterised by macrocephaly, intellectual disability, speech delay, and behavioral problems.

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 all 12)

#	Related Disease	Score
1	alacrima, achalasia, and mental retardation syndrome	10.3
2	pituitary adenoma	10.3
3	gigantism	10.3
4	pituitary tumors	10.3
5	overgrowth syndrome	10.3
6	hansen's disease	10.1
7	keratosis, seborrheic	9.9
8	leprosy 3	9.9
9	lepromatous leprosy	9.9
10	keratosis	9.9
11	inverted follicular keratosis	9.9
12	lymphosarcoma	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	intellectual disability ³¹	HP:0001249
3	global developmental delay ³¹	HP:0001263
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®:

⁵⁷ (Updated 05-Mar-2021)

Head And Neck Head:
macrocephaly

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

Neurologic Central Nervous System:
intellectual disability
ventriculomegaly
syringomyelia
hypotonia
developmental delay
more

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 (Updated 05-Mar-2021)

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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

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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 ⁵⁷	Lumish HS...Chung WK	26084711	2015
2	Mutations in SETD2 cause a novel overgrowth condition. ⁵⁷ ⁶	Luscan A...Cormier-Daire V	24852293	2014
3	Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders. ⁶ ⁵⁷	O'Roak BJ...Shendure J	23160955	2012
4	The contribution of de novo coding mutations to autism spectrum disorder. ⁵⁷	Iossifov I...Wigler M	25363768	2014
5	Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations. ⁵⁷	O'Roak BJ...Eichler EE	22495309	2012
6	A case of Luscan-Lumish syndrome: Possible involvement of enhanced GH signaling. ⁶¹	Suda K...Takahashi Y	33248444	2020
7	Genotype-phenotype correlation at codon 1740 of SETD2. ⁶¹	Rabin R...Pappas J	32710489	2020
8	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	PubMed IDs
1	SETD2	SET Domain Containing 2, Histone Lysine Methyltransferase	Protein Coding	1045.82	Molecular basis known ⁵⁷ Pathogenic ⁶ Genetic Tests ²⁹ Likely pathogenic ⁶ GeneCards inferred via : Disorders Variants (show sections)	24852293

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Variations for Luscan-Lumish Syndrome

ClinVar genetic disease variations for Luscan-Lumish Syndrome:

⁶ (show top 50) (show all 329)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	SETD2	NM_014159.7(SETD2):c.820C>T (p.Gln274Ter)	SNV	Pathogenic	222955	rs869025571	3:47165306-47165306	3:47123816-47123816
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.2028del (p.Pro677fs)	Deletion	Pathogenic	222956	rs869025572	3:47164098-47164098	3:47122608-47122608
4	SETD2	NM_014159.7(SETD2):c.4997A>G (p.Tyr1666Cys)	SNV	Pathogenic	632591	rs1559720382	3:47142966-47142966	3:47101476-47101476
5	SETD2	NM_014159.7(SETD2):c.5218C>T (p.Arg1740Trp)	SNV	Pathogenic	388568	rs1057523157	3:47129662-47129662	3:47088172-47088172
6	SETD2	NM_014159.7(SETD2):c.3671dup (p.Asn1224fs)	Duplication	Pathogenic	958870		3:47162454-47162455	3:47120964-47120965
7	SETD2	NM_014159.7(SETD2):c.5761G>T (p.Glu1921Ter)	SNV	Pathogenic	976776		3:47125509-47125509	3:47084019-47084019
8	SETD2	NM_014159.7(SETD2):c.5444T>G (p.Leu1815Trp)	SNV	Pathogenic	222954	rs869025570	3:47125826-47125826	3:47084336-47084336
9	SETD2	NM_014159.7(SETD2):c.5218C>T (p.Arg1740Trp)	SNV	Likely pathogenic	388568	rs1057523157	3:47129662-47129662	3:47088172-47088172
10	SETD2	NM_014159.7(SETD2):c.2155A>G (p.Asn719Asp)	SNV	Conflicting interpretations of pathogenicity	135211	rs115859828	3:47163971-47163971	3:47122481-47122481
11	SETD2	NM_014159.7(SETD2):c.1885A>G (p.Lys629Glu)	SNV	Conflicting interpretations of pathogenicity	542227	rs145650484	3:47164241-47164241	3:47122751-47122751
12	SETD2	NM_014159.7(SETD2):c.148G>A (p.Ala50Thr)	SNV	Conflicting interpretations of pathogenicity	542232	rs191985301	3:47165978-47165978	3:47124488-47124488
13	SETD2	NM_014159.7(SETD2):c.1414C>T (p.Arg472Cys)	SNV	Conflicting interpretations of pathogenicity	580050	rs771203643	3:47164712-47164712	3:47123222-47123222
14	SETD2	NM_014159.7(SETD2):c.4757A>G (p.His1586Arg)	SNV	Uncertain significance	977490		3:47147569-47147569	3:47106079-47106079
15	SETD2	NM_014159.7(SETD2):c.6179C>T (p.Ser2060Leu)	SNV	Uncertain significance	931690		3:47103767-47103767	3:47062277-47062277
16	SETD2	NM_014159.7(SETD2):c.5887A>G (p.Lys1963Glu)	SNV	Uncertain significance	960032		3:47125383-47125383	3:47083893-47083893
17	SETD2	NM_014159.7(SETD2):c.6293+9C>T	SNV	Uncertain significance	960555		3:47103644-47103644	3:47062154-47062154
18	SETD2	NM_014159.7(SETD2):c.775A>G (p.Ile259Val)	SNV	Uncertain significance	961459		3:47165351-47165351	3:47123861-47123861
19	SETD2	NM_014159.7(SETD2):c.6664C>T (p.Pro2222Ser)	SNV	Uncertain significance	135207	rs587778666	3:47098610-47098610	3:47057120-47057120
20	SETD2	NM_014159.7(SETD2):c.3936A>G (p.Arg1312=)	SNV	Uncertain significance	961931		3:47162190-47162190	3:47120700-47120700
21	SETD2	NM_014159.7(SETD2):c.6979A>G (p.Ser2327Gly)	SNV	Uncertain significance	963525		3:47088096-47088096	3:47046606-47046606
22	SETD2	NM_014159.7(SETD2):c.1523G>T (p.Gly508Val)	SNV	Uncertain significance	965125		3:47164603-47164603	3:47123113-47123113
23	SETD2	NM_014159.7(SETD2):c.3038A>G (p.Asp1013Gly)	SNV	Uncertain significance	966476		3:47163088-47163088	3:47121598-47121598
24	SETD2	NM_014159.7(SETD2):c.1769T>C (p.Leu590Ser)	SNV	Uncertain significance	967019		3:47164357-47164357	3:47122867-47122867
25	SETD2	NM_014159.7(SETD2):c.6760G>A (p.Val2254Ile)	SNV	Uncertain significance	967489		3:47098514-47098514	3:47057024-47057024
26	SETD2	NM_014159.7(SETD2):c.6479C>T (p.Pro2160Leu)	SNV	Uncertain significance	967738		3:47098795-47098795	3:47057305-47057305
27	SETD2	NM_014159.7(SETD2):c.3681T>G (p.Asp1227Glu)	SNV	Uncertain significance	971957		3:47162445-47162445	3:47120955-47120955
28	SETD2	NM_014159.7(SETD2):c.4856A>T (p.Gln1619Leu)	SNV	Uncertain significance	976291		3:47144897-47144897	3:47103407-47103407
29	SETD2	NM_014159.7(SETD2):c.1199G>A (p.Arg400Gln)	SNV	Uncertain significance	933265		3:47164927-47164927	3:47123437-47123437
30	SETD2	NM_014159.7(SETD2):c.5567A>G (p.Asn1856Ser)	SNV	Uncertain significance	933390		3:47125703-47125703	3:47084213-47084213
31	SETD2	NM_014159.7(SETD2):c.2192A>G (p.Asp731Gly)	SNV	Uncertain significance	933461		3:47163934-47163934	3:47122444-47122444
32	SETD2	NM_014159.7(SETD2):c.1369G>A (p.Glu457Lys)	SNV	Uncertain significance	933963		3:47164757-47164757	3:47123267-47123267
33	SETD2	NM_014159.7(SETD2):c.7142C>A (p.Pro2381His)	SNV	Uncertain significance	936038		3:47084147-47084147	3:47042657-47042657
34	SETD2	NM_014159.7(SETD2):c.2155A>C (p.Asn719His)	SNV	Uncertain significance	936106		3:47163971-47163971	3:47122481-47122481
35	SETD2	NM_014159.7(SETD2):c.7048G>T (p.Ala2350Ser)	SNV	Uncertain significance	936663		3:47088027-47088027	3:47046537-47046537
36	SETD2	NM_014159.7(SETD2):c.3788C>G (p.Ser1263Cys)	SNV	Uncertain significance	937301		3:47162338-47162338	3:47120848-47120848
37	SETD2	NM_014159.7(SETD2):c.3661A>G (p.Thr1221Ala)	SNV	Uncertain significance	938880		3:47162465-47162465	3:47120975-47120975
38	SETD2	NM_014159.7(SETD2):c.7660G>A (p.Val2554Ile)	SNV	Uncertain significance	939173		3:47058618-47058618	3:47017128-47017128
39	SETD2	NM_014159.7(SETD2):c.4220G>T (p.Arg1407Met)	SNV	Uncertain significance	939395		3:47161906-47161906	3:47120416-47120416
40	SETD2	NM_014159.7(SETD2):c.1590T>G (p.Cys530Trp)	SNV	Uncertain significance	941321		3:47164536-47164536	3:47123046-47123046
41	SETD2	NM_014159.7(SETD2):c.3475G>A (p.Glu1159Lys)	SNV	Uncertain significance	942359		3:47162651-47162651	3:47121161-47121161
42	SETD2	NM_014159.7(SETD2):c.2813A>G (p.Asp938Gly)	SNV	Uncertain significance	942892		3:47163313-47163313	3:47121823-47121823
43	SETD2	NM_014159.7(SETD2):c.2716C>T (p.Pro906Ser)	SNV	Uncertain significance	942893		3:47163410-47163410	3:47121920-47121920
44	SETD2	NM_014159.7(SETD2):c.523G>T (p.Ala175Ser)	SNV	Uncertain significance	943311		3:47165603-47165603	3:47124113-47124113
45	SETD2	NM_014159.7(SETD2):c.4683C>T (p.Gly1561=)	SNV	Uncertain significance	944059		3:47155398-47155398	3:47113908-47113908
46	SETD2	NM_014159.7(SETD2):c.2993T>G (p.Val998Gly)	SNV	Uncertain significance	944455		3:47163133-47163133	3:47121643-47121643
47	SETD2	NM_014159.7(SETD2):c.1661G>A (p.Arg554His)	SNV	Uncertain significance	944637		3:47164465-47164465	3:47122975-47122975
48	SETD2	NM_014159.7(SETD2):c.1745T>C (p.Ile582Thr)	SNV	Uncertain significance	944638		3:47164381-47164381	3:47122891-47122891
49	SETD2	NM_014159.7(SETD2):c.2417A>C (p.Asn806Thr)	SNV	Uncertain significance	945942		3:47163709-47163709	3:47122219-47122219
50	SETD2	NM_014159.7(SETD2):c.5906A>G (p.Lys1969Arg)	SNV	Uncertain significance	946181		3:47125364-47125364	3:47083874-47083874

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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