LLS
MCID: LSC003
MIFTS: 33

Luscan-Lumish Syndrome (LLS)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases
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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:

Orphanet: 58  
Rare neurological diseases
Rare bone diseases
Developmental anomalies during embryogenesis


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.

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 Top Affiliating Genes
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:



Diseases related to Luscan-Lumish Syndrome

Symptoms & Phenotypes for Luscan-Lumish Syndrome

Human phenotypes related to Luscan-Lumish Syndrome:

30 (show all 33)
# Description HPO Frequency Orphanet Frequency 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)

Drugs & Therapeutics for Luscan-Lumish Syndrome

Search Clinical Trials, NIH Clinical Center for Luscan-Lumish Syndrome

Genetic Tests for Luscan-Lumish Syndrome

Genetic tests related to Luscan-Lumish Syndrome:

# Genetic test Affiliating Genes
1 Luscan-Lumish Syndrome 28 SETD2

Anatomical Context for Luscan-Lumish Syndrome

Organs/tissues related to Luscan-Lumish Syndrome:

MalaCards : Bone, Ovary

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
26084711 2015
2
Mutations in SETD2 cause a novel overgrowth condition. 57 5
24852293 2014
3
Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders. 57 5
23160955 2012
4
The contribution of de novo coding mutations to autism spectrum disorder. 57
25363768 2014
5
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations. 57
22495309 2012
6
A Case of Luscan-Lumish Syndrome: Possible Involvement of Enhanced GH Signaling. 62
33248444 2021
7
Genotype-phenotype correlation at codon 1740 of SETD2. 62
32710489 2020
8
SETD2 related overgrowth syndrome: Presentation of four new patients and review of the literature. 62
31643139 2019
9
Two novel cases expanding the phenotype of SETD2-related overgrowth syndrome. 62
29681085 2018

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

Expression for Luscan-Lumish Syndrome

Search GEO for disease gene expression data for Luscan-Lumish Syndrome.

Pathways for Luscan-Lumish Syndrome

GO Terms for Luscan-Lumish Syndrome

Sources for Luscan-Lumish Syndrome

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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