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

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Aliases & Classifications for Luscan-Lumish Syndrome

MalaCards integrated aliases for Luscan-Lumish Syndrome:

Name: Luscan-Lumish Syndrome ⁵⁷ ⁵⁸ ⁷³ ²⁸ ⁵ ³⁸

Lls ⁵⁷ ⁷³

Setd2-Related Overgrowth Syndrome ⁵⁸

Characteristics:

Inheritance:

Autosomal dominant ⁵⁷

OMIM®:

⁵⁷ (Updated 08-Dec-2022)

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

Classifications:

MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases
Anatomical: Neuronal diseases Bone diseases

See all MalaCards categories (disease lists)

Orphanet: ⁵⁸

Rare neurological diseases

Rare bone diseases

Developmental anomalies during embryogenesis

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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 08-Dec-2022)

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

UniProtKB/Swiss-Prot: ⁷³ 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 17)

#	Related Disease	Score
1	acromegaly	10.3
2	pituitary adenoma	10.3
3	setd2 neurodevelopmental disorders	10.3
4	pituitary tumors	10.3
5	overgrowth syndrome	10.3
6	autism spectrum disorder	10.3
7	sotos syndrome	10.1
8	cryptorchidism, unilateral or bilateral	10.1
9	cerebellar atrophy, developmental delay, and seizures	10.1
10	hypermobile ehlers-danlos syndrome	10.1
11	leprosy 3	10.1
12	pelvic organ prolapse	9.9
13	keratosis, seborrheic	9.9
14	lymphoma, non-hodgkin, familial	9.9
15	lepromatous leprosy	9.9
16	keratosis	9.9
17	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:

³⁰ (show all 33)

#	Description	HPO Source Accession
1	macrocephaly ³⁰	HP:0000256
2	intellectual disability ³⁰	HP:0001249
3	seizure ³⁰	HP:0001250
4	global developmental delay ³⁰	HP:0001263
5	mandibular prognathia ³⁰	HP:0000303
6	delayed speech and language development ³⁰	HP:0000750
7	short stature ³⁰	HP:0004322
8	prominent forehead ³⁰	HP:0011220
9	slurred speech ³⁰	HP:0001350
10	recurrent otitis media ³⁰	HP:0000403
11	anxiety ³⁰	HP:0000739
12	obesity ³⁰	HP:0001513
13	downslanted palpebral fissures ³⁰	HP:0000494
14	polycystic ovaries ³⁰	HP:0000147
15	long face ³⁰	HP:0000276
16	ventriculomegaly ³⁰	HP:0002119
17	malar flattening ³⁰	HP:0000272
18	pointed chin ³⁰	HP:0000307
19	high forehead ³⁰	HP:0000348
20	high anterior hairline ³⁰	HP:0009890
21	long nose ³⁰	HP:0003189
22	autistic behavior ³⁰	HP:0000729
23	syringomyelia ³⁰	HP:0003396
24	aggressive behavior ³⁰	HP:0000718
25	hirsutism ³⁰	HP:0001007
26	generalized hypotonia ³⁰	HP:0001290
27	irregular menstruation ³⁰	HP:0000858
28	polyphagia ³⁰	HP:0002591
29	long foot ³⁰	HP:0001833
30	shyness ³⁰	HP:0100962
31	overgrowth ³⁰	HP:0001548
32	chiari malformation ³⁰	HP:0002308
33	advanced ossification of carpal bones ³⁰	HP:0004233

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 08-Dec-2022)

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
hypotonia
ventriculomegaly
syringomyelia
chiari malformation
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 08-Dec-2022)

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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 ²⁸	SETD2

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Anatomical Context for Luscan-Lumish Syndrome

Organs/tissues related to Luscan-Lumish Syndrome:

MalaCards : Bone, 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. ⁵⁷ ⁵	Lumish HS...Chung WK	26084711	2015
2	Mutations in SETD2 cause a novel overgrowth condition. ⁵⁷ ⁵	Luscan A...Cormier-Daire V	24852293	2014
3	Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders. ⁵⁷ ⁵	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. ⁶²	Suda K...Takahashi Y	33248444	2021
7	Genotype-phenotype correlation at codon 1740 of SETD2. ⁶²	Rabin R...Pappas J	32710489	2020
8	SETD2 related overgrowth syndrome: Presentation of four new patients and review of the literature. ⁶²	Marzin P...Cormier-Daire V	31643139	2019
9	Two novel cases expanding the phenotype of SETD2-related overgrowth syndrome. ⁶²	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	1008.02	Molecular basis known ⁵⁷ Pathogenic ⁵ Genetic Tests ²⁸ GeneCards inferred via : Disorders (show sections)	23160955 24852293 26084711

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Variations for Luscan-Lumish Syndrome

ClinVar genetic disease variations for Luscan-Lumish Syndrome:

⁵ (show top 50) (show all 603)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	SETD2	NM_014159.7(SETD2):c.4997A>G (p.Tyr1666Cys)	SNV	Pathogenic	632591	rs1559720382	GRCh37: 3:47142966-47142966 GRCh38: 3:47101476-47101476
2	SETD2	NM_014159.7(SETD2):c.5761G>T (p.Glu1921Ter)	SNV	Pathogenic	976776	rs2041433287	GRCh37: 3:47125509-47125509 GRCh38: 3:47084019-47084019
3	SETD2	NM_014159.7(SETD2):c.820C>T (p.Gln274Ter)	SNV	Pathogenic	222955	rs869025571	GRCh37: 3:47165306-47165306 GRCh38: 3:47123816-47123816
4	SETD2	NM_014159.7(SETD2):c.6341del (p.Asn2114fs)	DEL	Pathogenic	222953	rs869025569	GRCh37: 3:47098933-47098933 GRCh38: 3:47057443-47057443
5	SETD2	NM_014159.7(SETD2):c.2028del (p.Pro677fs)	DEL	Pathogenic	222956	rs869025572	GRCh37: 3:47164098-47164098 GRCh38: 3:47122608-47122608
6	SETD2	NM_014159.7(SETD2):c.3671dup (p.Asn1224fs)	DUP	Pathogenic	958870	rs2043056964	GRCh37: 3:47162454-47162455 GRCh38: 3:47120964-47120965
7	SETD2	NM_014159.7(SETD2):c.5236G>T (p.Glu1746Ter)	SNV	Pathogenic	1073170		GRCh37: 3:47129644-47129644 GRCh38: 3:47088154-47088154
8	SETD2	NM_014159.7(SETD2):c.6069T>A (p.Tyr2023Ter)	SNV	Pathogenic	1074219		GRCh37: 3:47108600-47108600 GRCh38: 3:47067110-47067110
9	SETD2	NM_014159.7(SETD2):c.5177del (p.Gly1726fs)	DEL	Pathogenic	1076326		GRCh37: 3:47129703-47129703 GRCh38: 3:47088213-47088213
10	SETD2	NM_014159.7(SETD2):c.6712_6718del (p.Ser2238fs)	DEL	Pathogenic	1320096		GRCh37: 3:47098556-47098562 GRCh38: 3:47057066-47057072
11	SETD2	NM_014159.7(SETD2):c.1102C>T (p.Arg368Ter)	SNV	Pathogenic	1323578		GRCh37: 3:47165024-47165024 GRCh38: 3:47123534-47123534
12	SETD2	NM_014159.7(SETD2):c.1748_1751del (p.Lys583fs)	DEL	Pathogenic	1164031		GRCh37: 3:47164375-47164378 GRCh38: 3:47122885-47122888
13	SETD2	NM_014159.7(SETD2):c.4792C>T (p.Arg1598Ter)	SNV	Pathogenic	1451327		GRCh37: 3:47147534-47147534 GRCh38: 3:47106044-47106044
14	SETD2	NM_014159.7(SETD2):c.4375C>T (p.Arg1459Ter)	SNV	Pathogenic	1434833		GRCh37: 3:47161751-47161751 GRCh38: 3:47120261-47120261
15	SETD2	NM_014159.7(SETD2):c.5218C>T (p.Arg1740Trp)	SNV	Pathogenic Pathogenic/Likely Pathogenic	388568	rs1057523157	GRCh37: 3:47129662-47129662 GRCh38: 3:47088172-47088172
16	SETD2	NM_014159.7(SETD2):c.5945dup (p.Asp1982fs)	DUP	Pathogenic	1710202		GRCh37: 3:47125324-47125325 GRCh38: 3:47083834-47083835
17	SETD2	NM_014159.7(SETD2):c.5444T>G (p.Leu1815Trp)	SNV	Pathogenic	222954	rs869025570	GRCh37: 3:47125826-47125826 GRCh38: 3:47084336-47084336
18	SETD2	NM_014159.7(SETD2):c.6029C>T (p.Thr2010Ile)	SNV	Conflicting Interpretations Of Pathogenicity	955336	rs2041416610	GRCh37: 3:47125241-47125241 GRCh38: 3:47083751-47083751
19	SETD2	NM_014159.7(SETD2):c.2819G>T (p.Gly940Val)	SNV	Conflicting Interpretations Of Pathogenicity	574593	rs751707090	GRCh37: 3:47163307-47163307 GRCh38: 3:47121817-47121817
20	SETD2	NM_014159.7(SETD2):c.1414C>T (p.Arg472Cys)	SNV	Conflicting Interpretations Of Pathogenicity	580050	rs771203643	GRCh37: 3:47164712-47164712 GRCh38: 3:47123222-47123222
21	SETD2	NM_014159.7(SETD2):c.3026T>C (p.Met1009Thr)	SNV	Conflicting Interpretations Of Pathogenicity	833850	rs114527197	GRCh37: 3:47163100-47163100 GRCh38: 3:47121610-47121610
22	SETD2	NM_014159.7(SETD2):c.2155A>G (p.Asn719Asp)	SNV	Conflicting Interpretations Of Pathogenicity	135211	rs115859828	GRCh37: 3:47163971-47163971 GRCh38: 3:47122481-47122481
23	SETD2	NM_014159.7(SETD2):c.19C>T (p.Gln7Ter)	SNV	Conflicting Interpretations Of Pathogenicity	521678	rs541943893	GRCh37: 3:47205396-47205396 GRCh38: 3:47163906-47163906
24	SETD2	NM_014159.7(SETD2):c.1885A>G (p.Lys629Glu)	SNV	Conflicting Interpretations Of Pathogenicity	542227	rs145650484	GRCh37: 3:47164241-47164241 GRCh38: 3:47122751-47122751
25	SETD2	NM_014159.7(SETD2):c.148G>A (p.Ala50Thr)	SNV	Conflicting Interpretations Of Pathogenicity	542232	rs191985301	GRCh37: 3:47165978-47165978 GRCh38: 3:47124488-47124488
26	SETD2	NM_014159.7(SETD2):c.827A>G (p.Asp276Gly)	SNV	Uncertain Significance	1184282		GRCh37: 3:47165299-47165299 GRCh38: 3:47123809-47123809
27	SETD2	NM_014159.7(SETD2):c.5887A>G (p.Lys1963Glu)	SNV	Uncertain Significance	960032	rs1482463965	GRCh37: 3:47125383-47125383 GRCh38: 3:47083893-47083893
28	SETD2	NM_014159.7(SETD2):c.6293+9C>T	SNV	Uncertain Significance	960555	rs2040360525	GRCh37: 3:47103644-47103644 GRCh38: 3:47062154-47062154
29	SETD2	NM_014159.7(SETD2):c.775A>G (p.Ile259Val)	SNV	Uncertain Significance	961459	rs750623264	GRCh37: 3:47165351-47165351 GRCh38: 3:47123861-47123861
30	SETD2	NM_014159.7(SETD2):c.6664C>T (p.Pro2222Ser)	SNV	Uncertain Significance	135207	rs587778666	GRCh37: 3:47098610-47098610 GRCh38: 3:47057120-47057120
31	SETD2	NM_014159.7(SETD2):c.3936A>G (p.Arg1312=)	SNV	Uncertain Significance	961931	rs756654781	GRCh37: 3:47162190-47162190 GRCh38: 3:47120700-47120700
32	SETD2	NM_014159.7(SETD2):c.6979A>G (p.Ser2327Gly)	SNV	Uncertain Significance	963525	rs1468649782	GRCh37: 3:47088096-47088096 GRCh38: 3:47046606-47046606
33	SETD2	NM_014159.7(SETD2):c.3038A>G (p.Asp1013Gly)	SNV	Uncertain Significance	966476	rs769034482	GRCh37: 3:47163088-47163088 GRCh38: 3:47121598-47121598
34	SETD2	NM_014159.7(SETD2):c.1769T>C (p.Leu590Ser)	SNV	Uncertain Significance	967019	rs1258459428	GRCh37: 3:47164357-47164357 GRCh38: 3:47122867-47122867
35	SETD2	NM_014159.7(SETD2):c.6760G>A (p.Val2254Ile)	SNV	Uncertain Significance	967489	rs746928112	GRCh37: 3:47098514-47098514 GRCh38: 3:47057024-47057024
36	SETD2	NM_014159.7(SETD2):c.6479C>T (p.Pro2160Leu)	SNV	Uncertain Significance	967738	rs745996964	GRCh37: 3:47098795-47098795 GRCh38: 3:47057305-47057305
37	SETD2	NM_014159.7(SETD2):c.3681T>G (p.Asp1227Glu)	SNV	Uncertain Significance	971957	rs1340269021	GRCh37: 3:47162445-47162445 GRCh38: 3:47120955-47120955
38	SETD2	NM_014159.7(SETD2):c.1928A>G (p.His643Arg)	SNV	Uncertain Significance	475497	rs776293901	GRCh37: 3:47164198-47164198 GRCh38: 3:47122708-47122708
39	SETD2	NM_014159.7(SETD2):c.1610T>G (p.Leu537Arg)	SNV	Uncertain Significance	475495	rs753117350	GRCh37: 3:47164516-47164516 GRCh38: 3:47123026-47123026
40	SETD2	NM_014159.7(SETD2):c.4487G>A (p.Arg1496Gln)	SNV	Uncertain Significance	475519	rs1553699111	GRCh37: 3:47158212-47158212 GRCh38: 3:47116722-47116722
41	SETD2	NM_014159.7(SETD2):c.26C>T (p.Pro9Leu)	SNV	Uncertain Significance	475501	rs1553707534	GRCh37: 3:47205389-47205389 GRCh38: 3:47163899-47163899
42	SETD2	NM_014159.7(SETD2):c.3361G>A (p.Ala1121Thr)	SNV	Uncertain Significance	475509	rs1336548478	GRCh37: 3:47162765-47162765 GRCh38: 3:47121275-47121275
43	SETD2	NM_014159.7(SETD2):c.2515A>G (p.Arg839Gly)	SNV	Uncertain Significance	475500	rs1441287639	GRCh37: 3:47163611-47163611 GRCh38: 3:47122121-47122121
44	SETD2	NM_014159.7(SETD2):c.3582A>G (p.Ile1194Met)	SNV	Uncertain Significance	475515	rs1211620525	GRCh37: 3:47162544-47162544 GRCh38: 3:47121054-47121054
45	SETD2	NM_014159.7(SETD2):c.6614A>G (p.His2205Arg)	SNV	Uncertain Significance	475533	rs746404627	GRCh37: 3:47098660-47098660 GRCh38: 3:47057170-47057170
46	SETD2	NM_014159.7(SETD2):c.4344C>G (p.Ser1448=)	SNV	Uncertain Significance	475518	rs992969331	GRCh37: 3:47161782-47161782 GRCh38: 3:47120292-47120292
47	SETD2	NM_014159.7(SETD2):c.2299A>G (p.Thr767Ala)	SNV	Uncertain Significance	475499	rs564476604	GRCh37: 3:47163827-47163827 GRCh38: 3:47122337-47122337
48	SETD2	NM_014159.7(SETD2):c.4121G>A (p.Ser1374Asn)	SNV	Uncertain Significance	542218	rs762222123	GRCh37: 3:47162005-47162005 GRCh38: 3:47120515-47120515
49	SETD2	NM_014159.7(SETD2):c.2224T>G (p.Ser742Ala)	SNV	Uncertain Significance	542219	rs774644234	GRCh37: 3:47163902-47163902 GRCh38: 3:47122412-47122412
50	SETD2	NM_014159.7(SETD2):c.676C>G (p.Pro226Ala)	SNV	Uncertain Significance	542220	rs780963440	GRCh37: 3:47165450-47165450 GRCh38: 3:47123960-47123960

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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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⁴⁰ MedGen

⁴¹ MedlinePlus

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⁴⁷ NCBI Bookshelf

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⁵¹ NIH Clinical Center

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⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

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⁶¹ PubChem

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⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

LLS MCID: LSC003 MIFTS: 33	Luscan-Lumish Syndrome (LLS) Categories: Bone diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases	Data Licensing For inquiries, contact: [email protected]
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

Luscan-Lumish Syndrome (LLS)

Aliases & Classifications for Luscan-Lumish Syndrome

MalaCards integrated aliases for Luscan-Lumish Syndrome:

Characteristics:

Inheritance:

OMIM®:

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

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