MCID: LSC003
MIFTS: 23

Luscan-Lumish Syndrome

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 and bone, and related phenotypes are polycystic ovaries and malar flattening

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 20)
# Related Disease Score Top Affiliating Genes
1 bipolar ll disorder 11.9
2 wilson disease 10.9
3 sleep apnea 10.9
4 diphtheria 10.9
5 kidney disease 10.9
6 fainting 10.9
7 lepromatous leprosy 10.2
8 lymphoma 10.0
9 alcohol dependence 9.8
10 leukemia, acute lymphoblastic 9.8
11 leukemia 9.8
12 lymphedema 9.8
13 lymphoblastic lymphoma 9.8
14 lymphoblastic leukemia 9.8
15 giardiasis 9.8
16 opioid abuse 9.8
17 iron metabolism disease 9.8
18 acute t cell leukemia 9.8
19 amebiasis 9.8
20 primary effusion lymphoma 9.8

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

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

Publications for Luscan-Lumish Syndrome

Variations for Luscan-Lumish Syndrome

ClinVar genetic disease variations for Luscan-Lumish Syndrome:

6
(show top 50) (show all 172)
# Gene Variation Type Significance SNP ID Assembly Location
1 SETD2 NM_014159.6(SETD2): c.6341delA (p.Asn2114Ilefs) deletion Pathogenic rs869025569 GRCh38 Chromosome 3, 47057443: 47057443
2 SETD2 NM_014159.6(SETD2): c.6341delA (p.Asn2114Ilefs) deletion Pathogenic rs869025569 GRCh37 Chromosome 3, 47098933: 47098933
3 SETD2 NM_014159.6(SETD2): c.5444T> G (p.Leu1815Trp) single nucleotide variant Pathogenic rs869025570 GRCh37 Chromosome 3, 47125826: 47125826
4 SETD2 NM_014159.6(SETD2): c.5444T> G (p.Leu1815Trp) single nucleotide variant Pathogenic rs869025570 GRCh38 Chromosome 3, 47084336: 47084336
5 SETD2 NM_014159.6(SETD2): c.820C> T (p.Gln274Ter) single nucleotide variant Pathogenic rs869025571 GRCh37 Chromosome 3, 47165306: 47165306
6 SETD2 NM_014159.6(SETD2): c.820C> T (p.Gln274Ter) single nucleotide variant Pathogenic rs869025571 GRCh38 Chromosome 3, 47123816: 47123816
7 SETD2 NM_014159.6(SETD2): c.2028delT (p.Pro677Leufs) deletion Pathogenic rs869025572 GRCh37 Chromosome 3, 47164098: 47164098
8 SETD2 NM_014159.6(SETD2): c.2028delT (p.Pro677Leufs) deletion Pathogenic rs869025572 GRCh38 Chromosome 3, 47122608: 47122608
9 SETD2 NM_014159.6(SETD2): c.4027C> A (p.Gln1343Lys) single nucleotide variant Uncertain significance rs781672875 GRCh38 Chromosome 3, 47120609: 47120609
10 SETD2 NM_014159.6(SETD2): c.4027C> A (p.Gln1343Lys) single nucleotide variant Uncertain significance rs781672875 GRCh37 Chromosome 3, 47162099: 47162099
11 SETD2 NM_014159.6(SETD2): c.6614A> G (p.His2205Arg) single nucleotide variant Uncertain significance rs746404627 GRCh37 Chromosome 3, 47098660: 47098660
12 SETD2 NM_014159.6(SETD2): c.6614A> G (p.His2205Arg) single nucleotide variant Uncertain significance rs746404627 GRCh38 Chromosome 3, 47057170: 47057170
13 SETD2 NM_014159.6(SETD2): c.6173A> G (p.Asn2058Ser) single nucleotide variant Benign rs116277395 GRCh37 Chromosome 3, 47103773: 47103773
14 SETD2 NM_014159.6(SETD2): c.6173A> G (p.Asn2058Ser) single nucleotide variant Benign rs116277395 GRCh38 Chromosome 3, 47062283: 47062283
15 SETD2 NM_014159.6(SETD2): c.5505T> C (p.Pro1835=) single nucleotide variant Likely benign GRCh37 Chromosome 3, 47125765: 47125765
16 SETD2 NM_014159.6(SETD2): c.5505T> C (p.Pro1835=) single nucleotide variant Likely benign GRCh38 Chromosome 3, 47084275: 47084275
17 SETD2 NM_014159.6(SETD2): c.4989G> A (p.Thr1663=) single nucleotide variant Likely benign rs148325978 GRCh37 Chromosome 3, 47142974: 47142974
18 SETD2 NM_014159.6(SETD2): c.4989G> A (p.Thr1663=) single nucleotide variant Likely benign rs148325978 GRCh38 Chromosome 3, 47101484: 47101484
19 SETD2 NM_014159.6(SETD2): c.4344C> G (p.Ser1448=) single nucleotide variant Uncertain significance rs992969331 GRCh37 Chromosome 3, 47161782: 47161782
20 SETD2 NM_014159.6(SETD2): c.4344C> G (p.Ser1448=) single nucleotide variant Uncertain significance rs992969331 GRCh38 Chromosome 3, 47120292: 47120292
21 SETD2 NM_014159.6(SETD2): c.4320A> T (p.Pro1440=) single nucleotide variant Benign rs74485823 GRCh37 Chromosome 3, 47161806: 47161806
22 SETD2 NM_014159.6(SETD2): c.4320A> T (p.Pro1440=) single nucleotide variant Benign rs74485823 GRCh38 Chromosome 3, 47120316: 47120316
23 SETD2 NM_014159.6(SETD2): c.2776A> G (p.Lys926Glu) single nucleotide variant Uncertain significance GRCh37 Chromosome 3, 47163350: 47163350
24 SETD2 NM_014159.6(SETD2): c.2776A> G (p.Lys926Glu) single nucleotide variant Uncertain significance GRCh38 Chromosome 3, 47121860: 47121860
25 SETD2 NM_014159.6(SETD2): c.1928A> G (p.His643Arg) single nucleotide variant Uncertain significance rs776293901 GRCh37 Chromosome 3, 47164198: 47164198
26 SETD2 NM_014159.6(SETD2): c.1928A> G (p.His643Arg) single nucleotide variant Uncertain significance rs776293901 GRCh38 Chromosome 3, 47122708: 47122708
27 SETD2 NM_014159.6(SETD2): c.799G> A (p.Val267Ile) single nucleotide variant Uncertain significance rs186148199 GRCh37 Chromosome 3, 47165327: 47165327
28 SETD2 NM_014159.6(SETD2): c.799G> A (p.Val267Ile) single nucleotide variant Uncertain significance rs186148199 GRCh38 Chromosome 3, 47123837: 47123837
29 SETD2 NM_014159.6(SETD2): c.590C> T (p.Ala197Val) single nucleotide variant Uncertain significance rs374950143 GRCh37 Chromosome 3, 47165536: 47165536
30 SETD2 NM_014159.6(SETD2): c.590C> T (p.Ala197Val) single nucleotide variant Uncertain significance rs374950143 GRCh38 Chromosome 3, 47124046: 47124046
31 SETD2 NM_014159.6(SETD2): c.336G> A (p.Ser112=) single nucleotide variant Likely benign rs965088151 GRCh37 Chromosome 3, 47165790: 47165790
32 SETD2 NM_014159.6(SETD2): c.336G> A (p.Ser112=) single nucleotide variant Likely benign rs965088151 GRCh38 Chromosome 3, 47124300: 47124300
33 SETD2 NM_014159.6(SETD2): c.7060A> G (p.Thr2354Ala) single nucleotide variant Benign rs145377213 GRCh37 Chromosome 3, 47088015: 47088015
34 SETD2 NM_014159.6(SETD2): c.7060A> G (p.Thr2354Ala) single nucleotide variant Benign rs145377213 GRCh38 Chromosome 3, 47046525: 47046525
35 SETD2 NM_014159.6(SETD2): c.6109A> G (p.Thr2037Ala) single nucleotide variant Likely benign rs113798770 GRCh37 Chromosome 3, 47108560: 47108560
36 SETD2 NM_014159.6(SETD2): c.6109A> G (p.Thr2037Ala) single nucleotide variant Likely benign rs113798770 GRCh38 Chromosome 3, 47067070: 47067070
37 SETD2 NM_014159.6(SETD2): c.4059C> T (p.Ser1353=) single nucleotide variant Benign rs113560046 GRCh37 Chromosome 3, 47162067: 47162067
38 SETD2 NM_014159.6(SETD2): c.4059C> T (p.Ser1353=) single nucleotide variant Benign rs113560046 GRCh38 Chromosome 3, 47120577: 47120577
39 SETD2 NM_014159.6(SETD2): c.3422C> T (p.Pro1141Leu) single nucleotide variant Likely benign rs142723093 GRCh37 Chromosome 3, 47162704: 47162704
40 SETD2 NM_014159.6(SETD2): c.3422C> T (p.Pro1141Leu) single nucleotide variant Likely benign rs142723093 GRCh38 Chromosome 3, 47121214: 47121214
41 SETD2 NM_014159.6(SETD2): c.3390G> A (p.Lys1130=) single nucleotide variant Likely benign rs773475708 GRCh37 Chromosome 3, 47162736: 47162736
42 SETD2 NM_014159.6(SETD2): c.3390G> A (p.Lys1130=) single nucleotide variant Likely benign rs773475708 GRCh38 Chromosome 3, 47121246: 47121246
43 SETD2 NM_014159.6(SETD2): c.3361G> A (p.Ala1121Thr) single nucleotide variant Uncertain significance GRCh37 Chromosome 3, 47162765: 47162765
44 SETD2 NM_014159.6(SETD2): c.3361G> A (p.Ala1121Thr) single nucleotide variant Uncertain significance GRCh38 Chromosome 3, 47121275: 47121275
45 SETD2 NM_014159.6(SETD2): c.3249A> C (p.Thr1083=) single nucleotide variant Benign rs80241480 GRCh37 Chromosome 3, 47162877: 47162877
46 SETD2 NM_014159.6(SETD2): c.3249A> C (p.Thr1083=) single nucleotide variant Benign rs80241480 GRCh38 Chromosome 3, 47121387: 47121387
47 SETD2 NM_014159.6(SETD2): c.2730A> G (p.Ala910=) single nucleotide variant Likely benign rs377041426 GRCh37 Chromosome 3, 47163396: 47163396
48 SETD2 NM_014159.6(SETD2): c.2730A> G (p.Ala910=) single nucleotide variant Likely benign rs377041426 GRCh38 Chromosome 3, 47121906: 47121906
49 SETD2 NM_014159.6(SETD2): c.2515A> G (p.Arg839Gly) single nucleotide variant Uncertain significance GRCh37 Chromosome 3, 47163611: 47163611
50 SETD2 NM_014159.6(SETD2): c.2515A> G (p.Arg839Gly) single nucleotide variant Uncertain significance GRCh38 Chromosome 3, 47122121: 47122121

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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