LUSYAM
MCID: LSC005
MIFTS: 20

Luo-Schoch-Yamamoto Syndrome (LUSYAM)

Categories: Genetic diseases, Neuronal diseases
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Aliases & Classifications for Luo-Schoch-Yamamoto Syndrome

MalaCards integrated aliases for Luo-Schoch-Yamamoto Syndrome:

Name: Luo-Schoch-Yamamoto Syndrome 57 73 5
Lusyam 57 73

Characteristics:


Inheritance:

Autosomal dominant 57

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
onset in infancy
de novo mutation
two unrelated patients have been reported (last curated july 2021)


Classifications:



Summaries for Luo-Schoch-Yamamoto Syndrome

OMIM®: 57 Luo-Schoch-Yamamoto syndrome (LUSYAM) is a neurodevelopmental disorder characterized by global developmental delay and impaired intellectual development apparent from infancy. Affected individuals have delayed walking, early-onset seizures, hypotonia, dysmorphic facial features, and white matter abnormalities on brain imaging (Luo et al., 2021). (619460) (Updated 08-Dec-2022)

MalaCards based summary: Luo-Schoch-Yamamoto Syndrome, is also known as lusyam. An important gene associated with Luo-Schoch-Yamamoto Syndrome is RNF2 (Ring Finger Protein 2). Affiliated tissues include brain and eye, and related phenotypes are seizure and hyperreflexia

UniProtKB/Swiss-Prot: 73 An autosomal dominant disorder characterized by intrauterine growth retardation, severe intellectual disability, behavioral problems, early-onset seizures, feeding difficulties, and dysmorphic features. White matter abnormalities and delayed myelination are observed on brain imaging.

Related Diseases for Luo-Schoch-Yamamoto Syndrome

Symptoms & Phenotypes for Luo-Schoch-Yamamoto Syndrome

Human phenotypes related to Luo-Schoch-Yamamoto Syndrome:

30 (show all 32)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizure 30 Very rare (1%) HP:0001250
2 hyperreflexia 30 Very rare (1%) HP:0001347
3 failure to thrive 30 Very rare (1%) HP:0001508
4 hypotonia 30 Very rare (1%) HP:0001252
5 depressed nasal bridge 30 Very rare (1%) HP:0005280
6 hypertelorism 30 Very rare (1%) HP:0000316
7 umbilical hernia 30 Very rare (1%) HP:0001537
8 thick vermilion border 30 Very rare (1%) HP:0012471
9 anteverted nares 30 Very rare (1%) HP:0000463
10 feeding difficulties in infancy 30 Very rare (1%) HP:0008872
11 intellectual disability, severe 30 Very rare (1%) HP:0010864
12 intrauterine growth retardation 30 Very rare (1%) HP:0001511
13 recurrent otitis media 30 Very rare (1%) HP:0000403
14 narrow mouth 30 Very rare (1%) HP:0000160
15 highly arched eyebrow 30 Very rare (1%) HP:0002553
16 deeply set eye 30 Very rare (1%) HP:0000490
17 short philtrum 30 Very rare (1%) HP:0000322
18 wide mouth 30 Very rare (1%) HP:0000154
19 severe global developmental delay 30 Very rare (1%) HP:0011344
20 small hand 30 Very rare (1%) HP:0200055
21 wide nose 30 Very rare (1%) HP:0000445
22 short foot 30 Very rare (1%) HP:0001773
23 long eyelashes 30 Very rare (1%) HP:0000527
24 oligohydramnios 30 Very rare (1%) HP:0001562
25 astigmatism 30 Very rare (1%) HP:0000483
26 ectropion of lower eyelids 30 Very rare (1%) HP:0007651
27 tricuspid regurgitation 30 Very rare (1%) HP:0005180
28 almond-shaped palpebral fissure 30 Very rare (1%) HP:0007874
29 exotropia 30 Very rare (1%) HP:0000577
30 widely-spaced maxillary central incisors 30 Very rare (1%) HP:0001566
31 abnormal pinna morphology 30 Very rare (1%) HP:0000377
32 primary microcephaly 30 Very rare (1%) HP:0011451

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Neurologic Central Nervous System:
hyperreflexia
hypotonia
developmental regression
global developmental delay
inability to walk
more
Head And Neck Eyes:
hypertelorism
strabismus
astigmatism
exotropia
deep-set eyes
more
Head And Neck Mouth:
wide mouth
small mouth
prominent mouth

Neurologic Behavioral Psychiatric Manifestations:
abnormal behavior
stereotypies

Skeletal Hands:
small hands

Skeletal Feet:
small feet

Head And Neck Teeth:
wide-spaced incisors

Head And Neck Nose:
depressed nasal bridge
upturned nose

Head And Neck Face:
short philtrum

Abdomen Gastrointestinal:
feeding difficulties
tube feeding

Head And Neck Ears:
dysplastic ears

Head And Neck Head:
microcephaly (in some patients)

Growth Other:
intrauterine growth deficiency

Clinical features from OMIM®:

619460 (Updated 08-Dec-2022)

Drugs & Therapeutics for Luo-Schoch-Yamamoto Syndrome

Search Clinical Trials, NIH Clinical Center for Luo-Schoch-Yamamoto Syndrome

Genetic Tests for Luo-Schoch-Yamamoto Syndrome

Anatomical Context for Luo-Schoch-Yamamoto Syndrome

Organs/tissues related to Luo-Schoch-Yamamoto Syndrome:

MalaCards : Brain, Eye

Publications for Luo-Schoch-Yamamoto Syndrome

Articles related to Luo-Schoch-Yamamoto Syndrome:

# Title Authors PMID Year
1
Rare deleterious de novo missense variants in Rnf2/Ring2 are associated with a neurodevelopmental disorder with unique clinical features. 57 5
33864376 2021

Variations for Luo-Schoch-Yamamoto Syndrome

ClinVar genetic disease variations for Luo-Schoch-Yamamoto Syndrome:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 RNF2 NM_007212.4(RNF2):c.246T>G (p.Ser82Arg) SNV Pathogenic
1189036 GRCh37: 1:185060869-185060869
GRCh38: 1:185091737-185091737
2 RNF2 NM_007212.4(RNF2):c.209G>A (p.Arg70His) SNV Pathogenic
988094 rs1651767648 GRCh37: 1:185060832-185060832
GRCh38: 1:185091700-185091700

UniProtKB/Swiss-Prot genetic disease variations for Luo-Schoch-Yamamoto Syndrome:

73
# Symbol AA change Variation ID SNP ID
1 RNF2 p.Arg70His VAR_086207

Expression for Luo-Schoch-Yamamoto Syndrome

Search GEO for disease gene expression data for Luo-Schoch-Yamamoto Syndrome.

Pathways for Luo-Schoch-Yamamoto Syndrome

GO Terms for Luo-Schoch-Yamamoto Syndrome

Sources for Luo-Schoch-Yamamoto 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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