LLS
MCID: LSC003
MIFTS: 30

Luscan-Lumish Syndrome (LLS)

Categories: Genetic diseases

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:



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.

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 Top Affiliating Genes
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:



Diseases related to Luscan-Lumish Syndrome

Symptoms & Phenotypes for Luscan-Lumish Syndrome

Human phenotypes related to Luscan-Lumish Syndrome:

31 (show all 33)
# Description HPO Frequency 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)

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 29 SETD2

Anatomical Context for Luscan-Lumish Syndrome

MalaCards organs/tissues related to Luscan-Lumish Syndrome:

40
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. 6 57
26084711 2015
2
Mutations in SETD2 cause a novel overgrowth condition. 57 6
24852293 2014
3
Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders. 6 57
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. 61
33248444 2020
7
Genotype-phenotype correlation at codon 1740 of SETD2. 61
32710489 2020
8
Two novel cases expanding the phenotype of SETD2-related overgrowth syndrome. 61
29681085 2018

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

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....