LLS
MCID: LSC003
MIFTS: 29

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 75 29 6 40
Lls 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
luscan-lumish syndrome:
Onset and clinical course phenotypic variability
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)

MalaCards based summary : Luscan-Lumish Syndrome, also known as lls, is related to bipolar ll disorder and wilson disease. An important gene associated with Luscan-Lumish Syndrome is SETD2 (SET Domain Containing 2). Affiliated tissues include ovary, bone and lung, and related phenotypes are malar flattening and obesity

UniProtKB/Swiss-Prot : 75 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 40)
# Related Disease Score Top Affiliating Genes
1 bipolar ll disorder 12.1
2 wilson disease 11.0
3 sleep apnea 11.0
4 diphtheria 11.0
5 kidney disease 11.0
6 fainting 11.0
7 lepromatous leprosy 10.3
8 noonan syndrome 4 10.2
9 lymphoma 10.1
10 myocardial infarction 10.0
11 spondyloarthropathy 1 9.9
12 colorectal cancer 9.9
13 disorganization, mouse, homolog of 9.9
14 leprosy 3 9.9
15 macular degeneration, age-related, 1 9.9
16 noonan syndrome 3 9.9
17 leukemia, acute lymphoblastic 9.9
18 human herpesvirus 8 9.9
19 cataract 9.9
20 leukemia 9.9
21 lymphedema 9.9
22 lymphoblastic lymphoma 9.9
23 mantle cell lymphoma 9.9
24 variola major 9.9
25 intrahepatic cholestasis of pregnancy 9.9
26 lymphocytic leukemia 9.9
27 giardiasis 9.9
28 opioid abuse 9.9
29 cholestasis 9.9
30 interstitial lung disease 9.9
31 acute t cell leukemia 9.9
32 spondylitis 9.9
33 lung disease 9.9
34 lymphosarcoma 9.9
35 smallpox 9.9
36 amebiasis 9.9
37 brain tumor, childhood 9.9
38 hansen's disease 9.9
39 primary effusion lymphoma 9.9
40 precursor t-cell acute lymphoblastic leukemia 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

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Luscan-Lumish Syndrome:

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

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:

41
Ovary, Bone, Lung, Brain, Kidney, T Cells, Liver

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
Laparoscopic liver sectionectomy 2 and 3 (LLS 2 and 3): towards the "gold standard". ( 19466378 )
2009
4
Chemical properties of lipopolysaccharide-like substance (LLS) extracted from Leptospira interrogans serovar canicola strain Moulton. ( 3683216 )
1987
5
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.5812G> A (p.Val1938Ile) single nucleotide variant Uncertain significance rs116417406 GRCh38 Chromosome 3, 47083968: 47083968
2 SETD2 NM_014159.6(SETD2): c.5812G> A (p.Val1938Ile) single nucleotide variant Uncertain significance rs116417406 GRCh37 Chromosome 3, 47125458: 47125458
3 SETD2 NM_014159.6(SETD2): c.5900G> A (p.Gly1967Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs143991928 GRCh38 Chromosome 3, 47083880: 47083880
4 SETD2 NM_014159.6(SETD2): c.5900G> A (p.Gly1967Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs143991928 GRCh37 Chromosome 3, 47125370: 47125370
5 SETD2 NM_014159.6(SETD2): c.5633T> C (p.Phe1878Ser) single nucleotide variant Uncertain significance rs587778665 GRCh38 Chromosome 3, 47084147: 47084147
6 SETD2 NM_014159.6(SETD2): c.5633T> C (p.Phe1878Ser) single nucleotide variant Uncertain significance rs587778665 GRCh37 Chromosome 3, 47125637: 47125637
7 SETD2 NM_014159.6(SETD2): c.1579A> G (p.Ile527Val) single nucleotide variant Uncertain significance rs373069098 GRCh38 Chromosome 3, 47123057: 47123057
8 SETD2 NM_014159.6(SETD2): c.1579A> G (p.Ile527Val) single nucleotide variant Uncertain significance rs373069098 GRCh37 Chromosome 3, 47164547: 47164547
9 SETD2 NM_014159.6(SETD2): c.1687A> G (p.Ile563Val) single nucleotide variant Uncertain significance rs587778668 GRCh38 Chromosome 3, 47122949: 47122949
10 SETD2 NM_014159.6(SETD2): c.1687A> G (p.Ile563Val) single nucleotide variant Uncertain significance rs587778668 GRCh37 Chromosome 3, 47164439: 47164439
11 SETD2 NM_014159.6(SETD2): c.2155A> G (p.Asn719Asp) single nucleotide variant Uncertain significance rs115859828 GRCh38 Chromosome 3, 47122481: 47122481
12 SETD2 NM_014159.6(SETD2): c.2155A> G (p.Asn719Asp) single nucleotide variant Uncertain significance rs115859828 GRCh37 Chromosome 3, 47163971: 47163971
13 SETD2 NM_014159.6(SETD2): c.3097A> G (p.Thr1033Ala) single nucleotide variant Likely benign rs145759179 GRCh38 Chromosome 3, 47121539: 47121539
14 SETD2 NM_014159.6(SETD2): c.3097A> G (p.Thr1033Ala) single nucleotide variant Likely benign rs145759179 GRCh37 Chromosome 3, 47163029: 47163029
15 SETD2 NM_014159.6(SETD2): c.3229A> G (p.Thr1077Ala) single nucleotide variant Likely benign rs114719990 GRCh37 Chromosome 3, 47162897: 47162897
16 SETD2 NM_014159.6(SETD2): c.3229A> G (p.Thr1077Ala) single nucleotide variant Likely benign rs114719990 GRCh38 Chromosome 3, 47121407: 47121407
17 SETD2 NM_014159.6(SETD2): c.1775C> A (p.Thr592Lys) single nucleotide variant Likely benign rs115569620 GRCh37 Chromosome 3, 47164351: 47164351
18 SETD2 NM_014159.6(SETD2): c.1775C> A (p.Thr592Lys) single nucleotide variant Likely benign rs115569620 GRCh38 Chromosome 3, 47122861: 47122861
19 SETD2 NM_014159.6(SETD2): c.2251C> A (p.Pro751Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs115788094 GRCh37 Chromosome 3, 47163875: 47163875
20 SETD2 NM_014159.6(SETD2): c.2251C> A (p.Pro751Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs115788094 GRCh38 Chromosome 3, 47122385: 47122385
21 SETD2 NM_014159.6(SETD2): c.2543C> T (p.Ala848Val) single nucleotide variant Benign/Likely benign rs75248784 GRCh37 Chromosome 3, 47163583: 47163583
22 SETD2 NM_014159.6(SETD2): c.2543C> T (p.Ala848Val) single nucleotide variant Benign/Likely benign rs75248784 GRCh38 Chromosome 3, 47122093: 47122093
23 SETD2 NM_014159.6(SETD2): c.2783C> G (p.Thr928Arg) single nucleotide variant Benign rs72895708 GRCh37 Chromosome 3, 47163343: 47163343
24 SETD2 NM_014159.6(SETD2): c.2783C> G (p.Thr928Arg) single nucleotide variant Benign rs72895708 GRCh38 Chromosome 3, 47121853: 47121853
25 SETD2 NM_014159.6(SETD2): c.310C> A (p.Pro104Thr) single nucleotide variant Likely benign rs539506462 GRCh37 Chromosome 3, 47165816: 47165816
26 SETD2 NM_014159.6(SETD2): c.310C> A (p.Pro104Thr) single nucleotide variant Likely benign rs539506462 GRCh38 Chromosome 3, 47124326: 47124326
27 SETD2 NM_014159.6(SETD2): c.557C> T (p.Pro186Leu) single nucleotide variant Benign rs78759480 GRCh37 Chromosome 3, 47165569: 47165569
28 SETD2 NM_014159.6(SETD2): c.557C> T (p.Pro186Leu) single nucleotide variant Benign rs78759480 GRCh38 Chromosome 3, 47124079: 47124079
29 SETD2 NM_014159.6(SETD2): c.2302G> C (p.Val768Leu) single nucleotide variant Benign/Likely benign rs9311404 GRCh37 Chromosome 3, 47163824: 47163824
30 SETD2 NM_014159.6(SETD2): c.2302G> C (p.Val768Leu) single nucleotide variant Benign/Likely benign rs9311404 GRCh38 Chromosome 3, 47122334: 47122334
31 SETD2 NM_014159.6(SETD2): c.2704G> C (p.Glu902Gln) single nucleotide variant Benign rs58906143 GRCh37 Chromosome 3, 47163422: 47163422
32 SETD2 NM_014159.6(SETD2): c.2704G> C (p.Glu902Gln) single nucleotide variant Benign rs58906143 GRCh38 Chromosome 3, 47121932: 47121932
33 SETD2 NM_014159.6(SETD2): c.2794G> A (p.Val932Ile) single nucleotide variant Uncertain significance rs141532143 GRCh37 Chromosome 3, 47163332: 47163332
34 SETD2 NM_014159.6(SETD2): c.2794G> A (p.Val932Ile) single nucleotide variant Uncertain significance rs141532143 GRCh38 Chromosome 3, 47121842: 47121842
35 SETD2 NM_014159.6(SETD2): c.2450T> C (p.Met817Thr) single nucleotide variant Uncertain significance rs115023083 GRCh37 Chromosome 3, 47163676: 47163676
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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