LLS
MCID: LSC003
MIFTS: 28

Luscan-Lumish Syndrome (LLS)

Categories: Genetic diseases

Aliases & Classifications for Luscan-Lumish Syndrome

MalaCards integrated aliases for Luscan-Lumish Syndrome:

Name: Luscan-Lumish Syndrome 58 76 30 6 41
Lls 58 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

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


HPO:

33
luscan-lumish syndrome:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Luscan-Lumish Syndrome

OMIM : 58 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 spinal muscular atrophy, type i. An important gene associated with Luscan-Lumish Syndrome is SETD2 (SET Domain Containing 2, Histone Lysine Methyltransferase). Affiliated tissues include ovary, bone and t cells, and related phenotypes are malar flattening and obesity

UniProtKB/Swiss-Prot : 76 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

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:

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

Symptoms via clinical synopsis from OMIM:

58
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

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 30 SETD2

Anatomical Context for Luscan-Lumish Syndrome

MalaCards organs/tissues related to Luscan-Lumish Syndrome:

42
Ovary, Bone, T Cells, Liver, Eye

Publications for Luscan-Lumish Syndrome

Articles related to Luscan-Lumish Syndrome:

# Title Authors Year
1
Linear least square (LLS) method for pixel-resolution analysis of polarization dependent SHG images of collagen fibrils. ( 26074581 )
2015
2
Electrochemical liquid-liquid-solid (ec-LLS) crystal growth: a low-temperature strategy for covalent semiconductor crystal growth. ( 26132141 )
2015
3
Brief Report: SETD2 Mutation in a Child with Autism, Intellectual Disabilities and Epilepsy. ( 26084711 )
2015
4
Mutations in SETD2 cause a novel overgrowth condition. ( 24852293 )
2014
5
Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders. ( 23160955 )
2012
6
Laparoscopic liver sectionectomy 2 and 3 (LLS 2 and 3): towards the "gold standard". ( 19466378 )
2009
7
A histopathological and immunological profile of a single lesion lepromatous leprosy (LLs). ( 1802946 )
1991
8
Biological activities of lipopolysaccharide-like substance (LLS) extracted from Leptospira interrogans serovar canicola strain Moulton. ( 3500390 )
1987
9
Chemical properties of lipopolysaccharide-like substance (LLS) extracted from Leptospira interrogans serovar canicola strain Moulton. ( 3683216 )
1987
10
Leukemic lymphosarcoma (LLS) with monoclonal IgM: idiotypic specificity on the cell surface and in the cytoplasm of lymphosarcoma cells. ( 581267 )
1978

Variations for Luscan-Lumish Syndrome

ClinVar genetic disease variations for Luscan-Lumish Syndrome:

6 (show top 50) (show all 266)
# Gene Variation Type Significance SNP ID Assembly Location
1 SETD2 NM_014159.6(SETD2): c.2450T> C (p.Met817Thr) single nucleotide variant Uncertain significance rs115023083 GRCh37 Chromosome 3, 47163676: 47163676
2 SETD2 NM_014159.6(SETD2): c.5812G> A (p.Val1938Ile) single nucleotide variant Uncertain significance rs116417406 GRCh38 Chromosome 3, 47083968: 47083968
3 SETD2 NM_014159.6(SETD2): c.5812G> A (p.Val1938Ile) single nucleotide variant Uncertain significance rs116417406 GRCh37 Chromosome 3, 47125458: 47125458
4 SETD2 NM_014159.6(SETD2): c.5900G> A (p.Gly1967Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs143991928 GRCh38 Chromosome 3, 47083880: 47083880
5 SETD2 NM_014159.6(SETD2): c.5900G> A (p.Gly1967Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs143991928 GRCh37 Chromosome 3, 47125370: 47125370
6 SETD2 NM_014159.6(SETD2): c.5633T> C (p.Phe1878Ser) single nucleotide variant Uncertain significance rs587778665 GRCh38 Chromosome 3, 47084147: 47084147
7 SETD2 NM_014159.6(SETD2): c.5633T> C (p.Phe1878Ser) single nucleotide variant Uncertain significance rs587778665 GRCh37 Chromosome 3, 47125637: 47125637
8 SETD2 NM_014159.6(SETD2): c.1579A> G (p.Ile527Val) single nucleotide variant Uncertain significance rs373069098 GRCh38 Chromosome 3, 47123057: 47123057
9 SETD2 NM_014159.6(SETD2): c.1579A> G (p.Ile527Val) single nucleotide variant Uncertain significance rs373069098 GRCh37 Chromosome 3, 47164547: 47164547
10 SETD2 NM_014159.6(SETD2): c.1687A> G (p.Ile563Val) single nucleotide variant Uncertain significance rs587778668 GRCh38 Chromosome 3, 47122949: 47122949
11 SETD2 NM_014159.6(SETD2): c.1687A> G (p.Ile563Val) single nucleotide variant Uncertain significance rs587778668 GRCh37 Chromosome 3, 47164439: 47164439
12 SETD2 NM_014159.6(SETD2): c.2155A> G (p.Asn719Asp) single nucleotide variant Uncertain significance rs115859828 GRCh38 Chromosome 3, 47122481: 47122481
13 SETD2 NM_014159.6(SETD2): c.2155A> G (p.Asn719Asp) single nucleotide variant Uncertain significance rs115859828 GRCh37 Chromosome 3, 47163971: 47163971
14 SETD2 NM_014159.6(SETD2): c.3097A> G (p.Thr1033Ala) single nucleotide variant Likely benign rs145759179 GRCh38 Chromosome 3, 47121539: 47121539
15 SETD2 NM_014159.6(SETD2): c.3097A> G (p.Thr1033Ala) single nucleotide variant Likely benign rs145759179 GRCh37 Chromosome 3, 47163029: 47163029
16 SETD2 NM_014159.6(SETD2): c.3229A> G (p.Thr1077Ala) single nucleotide variant Likely benign rs114719990 GRCh37 Chromosome 3, 47162897: 47162897
17 SETD2 NM_014159.6(SETD2): c.3229A> G (p.Thr1077Ala) single nucleotide variant Likely benign rs114719990 GRCh38 Chromosome 3, 47121407: 47121407
18 SETD2 NM_014159.6(SETD2): c.1775C> A (p.Thr592Lys) single nucleotide variant Likely benign rs115569620 GRCh37 Chromosome 3, 47164351: 47164351
19 SETD2 NM_014159.6(SETD2): c.1775C> A (p.Thr592Lys) single nucleotide variant Likely benign rs115569620 GRCh38 Chromosome 3, 47122861: 47122861
20 SETD2 NM_014159.6(SETD2): c.2251C> A (p.Pro751Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs115788094 GRCh37 Chromosome 3, 47163875: 47163875
21 SETD2 NM_014159.6(SETD2): c.2251C> A (p.Pro751Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs115788094 GRCh38 Chromosome 3, 47122385: 47122385
22 SETD2 NM_014159.6(SETD2): c.2543C> T (p.Ala848Val) single nucleotide variant Benign/Likely benign rs75248784 GRCh37 Chromosome 3, 47163583: 47163583
23 SETD2 NM_014159.6(SETD2): c.2543C> T (p.Ala848Val) single nucleotide variant Benign/Likely benign rs75248784 GRCh38 Chromosome 3, 47122093: 47122093
24 SETD2 NM_014159.6(SETD2): c.2783C> G (p.Thr928Arg) single nucleotide variant Benign rs72895708 GRCh37 Chromosome 3, 47163343: 47163343
25 SETD2 NM_014159.6(SETD2): c.2783C> G (p.Thr928Arg) single nucleotide variant Benign rs72895708 GRCh38 Chromosome 3, 47121853: 47121853
26 SETD2 NM_014159.6(SETD2): c.310C> A (p.Pro104Thr) single nucleotide variant Likely benign rs539506462 GRCh37 Chromosome 3, 47165816: 47165816
27 SETD2 NM_014159.6(SETD2): c.310C> A (p.Pro104Thr) single nucleotide variant Likely benign rs539506462 GRCh38 Chromosome 3, 47124326: 47124326
28 SETD2 NM_014159.6(SETD2): c.557C> T (p.Pro186Leu) single nucleotide variant Benign rs78759480 GRCh37 Chromosome 3, 47165569: 47165569
29 SETD2 NM_014159.6(SETD2): c.557C> T (p.Pro186Leu) single nucleotide variant Benign rs78759480 GRCh38 Chromosome 3, 47124079: 47124079
30 SETD2 NM_014159.6(SETD2): c.2302G> C (p.Val768Leu) single nucleotide variant Benign/Likely benign rs9311404 GRCh37 Chromosome 3, 47163824: 47163824
31 SETD2 NM_014159.6(SETD2): c.2302G> C (p.Val768Leu) single nucleotide variant Benign/Likely benign rs9311404 GRCh38 Chromosome 3, 47122334: 47122334
32 SETD2 NM_014159.6(SETD2): c.2704G> C (p.Glu902Gln) single nucleotide variant Benign rs58906143 GRCh37 Chromosome 3, 47163422: 47163422
33 SETD2 NM_014159.6(SETD2): c.2704G> C (p.Glu902Gln) single nucleotide variant Benign rs58906143 GRCh38 Chromosome 3, 47121932: 47121932
34 SETD2 NM_014159.6(SETD2): c.2794G> A (p.Val932Ile) single nucleotide variant Uncertain significance rs141532143 GRCh37 Chromosome 3, 47163332: 47163332
35 SETD2 NM_014159.6(SETD2): c.2794G> A (p.Val932Ile) single nucleotide variant Uncertain significance rs141532143 GRCh38 Chromosome 3, 47121842: 47121842
36 SETD2 NM_014159.6(SETD2): c.2450T> C (p.Met817Thr) single nucleotide variant Uncertain significance rs115023083 GRCh38 Chromosome 3, 47122186: 47122186
37 SETD2 NM_014159.6(SETD2): c.6341delA (p.Asn2114Ilefs) deletion Pathogenic rs869025569 GRCh38 Chromosome 3, 47057443: 47057443
38 SETD2 NM_014159.6(SETD2): c.6341delA (p.Asn2114Ilefs) deletion Pathogenic rs869025569 GRCh37 Chromosome 3, 47098933: 47098933
39 SETD2 NM_014159.6(SETD2): c.5444T> G (p.Leu1815Trp) single nucleotide variant Pathogenic rs869025570 GRCh37 Chromosome 3, 47125826: 47125826
40 SETD2 NM_014159.6(SETD2): c.5444T> G (p.Leu1815Trp) single nucleotide variant Pathogenic rs869025570 GRCh38 Chromosome 3, 47084336: 47084336
41 SETD2 NM_014159.6(SETD2): c.820C> T (p.Gln274Ter) single nucleotide variant Pathogenic rs869025571 GRCh37 Chromosome 3, 47165306: 47165306
42 SETD2 NM_014159.6(SETD2): c.820C> T (p.Gln274Ter) single nucleotide variant Pathogenic rs869025571 GRCh38 Chromosome 3, 47123816: 47123816
43 SETD2 NM_014159.6(SETD2): c.2028delT (p.Pro677Leufs) deletion Pathogenic rs869025572 GRCh37 Chromosome 3, 47164098: 47164098
44 SETD2 NM_014159.6(SETD2): c.2028delT (p.Pro677Leufs) deletion Pathogenic rs869025572 GRCh38 Chromosome 3, 47122608: 47122608
45 SETD2 NM_014159.6(SETD2): c.4027C> A (p.Gln1343Lys) single nucleotide variant Uncertain significance rs781672875 GRCh37 Chromosome 3, 47162099: 47162099
46 SETD2 NM_014159.6(SETD2): c.4027C> A (p.Gln1343Lys) single nucleotide variant Uncertain significance rs781672875 GRCh38 Chromosome 3, 47120609: 47120609
47 SETD2 NM_014159.6(SETD2): c.6614A> G (p.His2205Arg) single nucleotide variant Uncertain significance rs746404627 GRCh37 Chromosome 3, 47098660: 47098660
48 SETD2 NM_014159.6(SETD2): c.6614A> G (p.His2205Arg) single nucleotide variant Uncertain significance rs746404627 GRCh38 Chromosome 3, 47057170: 47057170
49 SETD2 NM_014159.6(SETD2): c.6173A> G (p.Asn2058Ser) single nucleotide variant Benign rs116277395 GRCh37 Chromosome 3, 47103773: 47103773
50 SETD2 NM_014159.6(SETD2): c.6173A> G (p.Asn2058Ser) single nucleotide variant Benign rs116277395 GRCh38 Chromosome 3, 47062283: 47062283

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

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