Lowry-Wood Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

LWS MCID: LWR019 MIFTS: 29	Lowry-Wood Syndrome (LWS) Categories: Bone diseases, Fetal diseases, Genetic diseases, Rare diseases
Genes Variations Related diseases Publications Symptoms & Phenotypes Expand all tables

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Aliases & Classifications for Lowry-Wood Syndrome

MalaCards integrated aliases for Lowry-Wood Syndrome:

Name: Lowry-Wood Syndrome ⁵⁷ ⁵⁸ ⁶

Lws ⁵⁷ ²⁰

Epiphyseal Dysplasia, Multiple, with Microcephaly and Retinal Dystrophy ⁵⁷

Epiphyseal Dysplasia-Microcephaly-Nystagmus Syndrome ⁵⁸

Epiphyseal Dysplasia, Microcephaly and Nystagmus ²⁰

Dysplasia, Epiphyseal, Microcephaly, Nystagmus ³⁹

Lowry Wood Syndrome ²⁰

Characteristics:

Orphanet epidemiological data:

⁵⁸

lowry-wood syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM®:

⁵⁷ (Updated 05-Mar-2021)

Inheritance:
autosomal recessive

HPO:

³¹

lowry-wood syndrome:
Inheritance autosomal recessive inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Bone diseases

See all MalaCards categories (disease lists)

ICD10: ³³

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

Other specified congenital malformation syndromes affecting multiple systems

Other congenital malformation syndromes with other skeletal changes

Orphanet: ⁵⁸

Rare bone diseases

Developmental anomalies during embryogenesis

External Ids:

OMIM® ⁵⁷ 226960

MESH via Orphanet ⁴⁵ C537038

ICD10 via Orphanet ³³ Q87.5

UMLS via Orphanet ⁷² C0796021

Orphanet ⁵⁸ ORPHA1824

MedGen ⁴¹ C0796021

Sources

Summaries for Lowry-Wood Syndrome

GARD : ²⁰ The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 1824DefinitionA rare disorder characterized by the association of epiphyseal dysplasia, short stature, microcephaly and, in the first reported cases, congenital nystagmus. So far, less than 10 cases have been described in the literature. Variable degrees of intellectual deficit have also been reported. Other occasional features include retinitis pigmentosa and coxa vara. Transmission appears to be autosomal recessive.Visit the Orphanet disease page for more resources.

MalaCards based summary : Lowry-Wood Syndrome, also known as lws, is related to roifman syndrome and microcephaly. An important gene associated with Lowry-Wood Syndrome is RNU4ATAC (RNA, U4atac Small Nuclear (U12-Dependent Splicing)). Related phenotypes are microcephaly and short stature

OMIM® : ⁵⁷ Lowry-Wood syndrome (LWS) is characterized by multiple epiphyseal dysplasia and microcephaly. Patients exhibit intrauterine growth retardation and short stature, as well as developmental delay and intellectual disability. Retinal degeneration has been reported in some patients (Farach et al., 2018; Shelihan et al., 2018). Microcephalic osteodysplastic primordial dwarfism type I (MOPD1; 210710) and Roifman syndrome (RFMN; 616651), the features of which overlap with those of Lowry-Wood syndrome, are also caused by biallelic mutation in the RNU4ATAC gene. (226960) (Updated 05-Mar-2021)

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Related Diseases for Lowry-Wood Syndrome

Diseases related to Lowry-Wood Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 12)

#	Related Disease	Score	Top Affiliating Genes
1	roifman syndrome	29.5	RNU4ATAC CLASP1
2	microcephaly	10.5
3	multiple epiphyseal dysplasia	10.5
4	pathologic nystagmus	10.3
5	isolated growth hormone deficiency, type ia	10.2
6	congenital nystagmus	10.2
7	dwarfism	10.2
8	coxa vara	10.1
9	nail disorder, nonsyndromic congenital, 3	10.1
10	microcephalic osteodysplastic primordial dwarfism, type i	10.1
11	alacrima, achalasia, and mental retardation syndrome	10.1
12	skeletal dysplasias	10.1

Graphical network of the top 20 diseases related to Lowry-Wood Syndrome:

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Symptoms & Phenotypes for Lowry-Wood Syndrome

Human phenotypes related to Lowry-Wood Syndrome:

⁵⁸ ³¹ (show all 41)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	microcephaly ⁵⁸ ³¹	very rare (1%)	Very frequent (99-80%)	HP:0000252
2	short stature ⁵⁸ ³¹	very rare (1%)	Very frequent (99-80%)	HP:0004322
3	epiphyseal dysplasia ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0002656
4	irregular epiphyses ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0010582
5	intellectual disability ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0001249
6	nystagmus ⁵⁸ ³¹	very rare (1%)	Frequent (79-30%)	HP:0000639
7	abnormality of retinal pigmentation ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0007703
8	arthralgia ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0002829
9	coxa vara ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0002812
10	delayed skeletal maturation ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0002750
11	joint stiffness ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001387
12	visual impairment ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000505
13	brachydactyly ⁵⁸ ³¹	very rare (1%)	Occasional (29-5%)	HP:0001156
14	platyspondyly ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000926
15	patellar dislocation ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0002999
16	aplasia/hypoplasia of the corpus callosum ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0007370
17	astigmatism ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000483
18	dislocated radial head ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0003083
19	abnormality of nail color ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0100643
20	global developmental delay ³¹	very rare (1%)		HP:0001263
21	thick vermilion border ³¹	very rare (1%)		HP:0012471
22	intellectual disability, mild ³¹	very rare (1%)		HP:0001256
23	intrauterine growth retardation ³¹	very rare (1%)		HP:0001511
24	elbow flexion contracture ³¹	very rare (1%)		HP:0002987
25	clinodactyly of the 5th finger ³¹	very rare (1%)		HP:0004209
26	hip dislocation ³¹	very rare (1%)		HP:0002827
27	nyctalopia ³¹	very rare (1%)		HP:0000662
28	sloping forehead ³¹	very rare (1%)		HP:0000340
29	prominent nose ³¹	very rare (1%)		HP:0000448
30	squared iliac bones ³¹	very rare (1%)		HP:0003177
31	small for gestational age ³¹	very rare (1%)		HP:0001518
32	pigmentary retinopathy ³¹	very rare (1%)		HP:0000580
33	restrictive ventilatory defect ³¹	very rare (1%)		HP:0002091
34	peripheral visual field loss ³¹	very rare (1%)		HP:0007994
35	multiple epiphyseal dysplasia ³¹	very rare (1%)		HP:0002654
36	limited elbow extension ³¹	very rare (1%)		HP:0001377
37	multiple joint dislocation ³¹	very rare (1%)		HP:0012095
38	abnormality of epiphysis morphology ⁵⁸		Very frequent (99-80%)
39	elbow dislocation ⁵⁸		Occasional (29-5%)
40	shallow acetabular fossae ³¹			HP:0003182
41	small epiphyses ³¹			HP:0010585

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 05-Mar-2021)

Skeletal Spine:
scoliosis
platyspondyly, mild

Skeletal Skull:
microcephaly
tight cranial sutures
early closure of fontanels

Head And Neck Eyes:
photophobia
retinitis pigmentosa
attenuated retinal vessels
pale optic disc
reduced or absent night vision
more

Growth Other:
intrauterine growth retardation

Skeletal Feet:
brachydactyly

Head And Neck Face:
sloping forehead

Neurologic Behavioral Psychiatric Manifestations:
aggressive behavior

Growth Weight:
low weight

Immunology:
low igg levels
low igm levels

Head And Neck Head:
microcephaly

Growth Height:
short stature

Skeletal Limbs:
genu valgum
patellar dislocation
multiple epiphyseal dysplasia
small epiphyses
knee dislocation
more

Skeletal Hands:
brachydactyly
hypoplastic middle phalanges
fifth-finger clinodactyly

Skeletal Pelvis:
coxa valga
coxa vara
irregular acetabular roof
horizontal acetabular roof
femoral head dislocation, bilateral

Head And Neck Nose:
prominent nose

Neurologic Central Nervous System:
arachnoid cyst
delayed motor milestones
impaired intellectual development
delayed speech

Head And Neck Mouth:
full lips

Clinical features from OMIM®:

226960 (Updated 05-Mar-2021)

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Drugs & Therapeutics for Lowry-Wood Syndrome

Search Clinical Trials , NIH Clinical Center for Lowry-Wood Syndrome

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Genetic Tests for Lowry-Wood Syndrome

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Anatomical Context for Lowry-Wood Syndrome

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Publications for Lowry-Wood Syndrome

Articles related to Lowry-Wood Syndrome:

(show all 15)

#	Title	Authors	PMID	Year
1	Lowry-Wood syndrome: further evidence of association with RNU4ATAC, and correlation between genotype and phenotype. ⁶ ⁵⁷ ⁶¹	Shelihan I...Campeau PM	30368667	2018
2	The expanding phenotype of RNU4ATAC pathogenic variants to Lowry Wood syndrome. ⁶¹ ⁶ ⁵⁷	Farach LS...Bober M	29265708	2018
3	Multiple joint dislocations: an additional skeletal finding in Lowry-Wood syndrome? ⁶¹ ⁶ ⁵⁷	Magnani C...Bevilacqua G	19288552	2009
4	A new patient with Lowry-Wood syndrome with mild phenotype. ⁶¹ ⁵⁷ ⁶	Brunetti-Pierri N...Sebastio G	12605445	2003
5	Epiphyseal dysplasia with coxa vara, microcephaly, and normal intelligence in sibs: expanded spectrum of Lowry-Wood syndrome? ⁶¹ ⁵⁷	Hankenson LG...Cassidy SB	2801767	1989
6	Syndrome of short stature, microcephaly, mental retardation, and multiple epiphyseal dysplasia--Lowry-Wood syndrome. ⁶¹ ⁵⁷	Nevin NC...Hutchinson J	3706411	1986
7	Compound heterozygous mutations in the noncoding RNU4ATAC cause Roifman Syndrome by disrupting minor intron splicing. ⁶	Merico D...Scherer SW	26522830	2015
8	A novel mutation in RNU4ATAC in a patient with microcephalic osteodysplastic primordial dwarfism type I. ⁶	Kilic E...Boduroglu K	25735804	2015
9	Is Roifman syndrome an X-linked ciliopathy with humoral immunodeficiency? Evidence from 2 new cases. ⁶	Gray PE...Kakakios A	21977988	2011
10	Mutations in U4atac snRNA, a component of the minor spliceosome, in the developmental disorder MOPD I. ⁶	He H...de la Chapelle A	21474760	2011
11	Association of TALS developmental disorder with defect in minor splicing component U4atac snRNA. ⁶	Edery P...Leutenegger AL	21474761	2011
12	Epiphyseal dysplasia, microcephaly, nystagmus, and retinitis pigmentosa. ⁵⁷	Lowry RB...Hayden MR	2801768	1989
13	Syndrome of epiphyseal dysplasia, short stature, microcephaly and nystagmus. ⁵⁷	Lowry RB...Wood BJ	1183069	1975
14	Loss of U11 small nuclear RNA in the developing mouse limb results in micromelia. ⁶¹	Drake KD...Kanadia RN	32665241	2020
15	Multiple epiphyseal dysplasia with small head, congenital nystagmus, hypoplasia of corpus callosum, and leukonychia totalis: a variant of Lowry-Wood syndrome? ⁶¹	Yamamoto T...Takahashi Y	7747786	1995

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Genes for Lowry-Wood Syndrome

Genes related to Lowry-Wood Syndrome (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	RNU4ATAC	RNA, U4atac Small Nuclear (U12-Dependent Splicing)	RNA Gene	1292.41	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁸ Likely pathogenic ⁶ GeneCards inferred via : Publications Variants (show sections)	21474760 21474761 21977988 (more) 26522830 29265708 30368667
2	CLASP1	Cytoplasmic Linker Associated Protein 1	Protein Coding	8.36	GeneCards inferred via : Variants (show sections)

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Variations for Lowry-Wood Syndrome

ClinVar genetic disease variations for Lowry-Wood Syndrome:

⁶

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	RNU4ATAC	NR_023343.1(RNU4ATAC):n.51G>A	SNV	Pathogenic	30178	rs188343279	2:122288506-122288506	2:121530930-121530930
2	RNU4ATAC	NM_015282.3(CLASP1):c.196-665C>T	SNV	Pathogenic	30181	rs763500364	2:122288566-122288566	2:121530990-121530990
3	RNU4ATAC	NM_015282.3(CLASP1):c.196-559T>G	SNV	Pathogenic	932367		2:122288460-122288460	2:121530884-121530884
4	RNU4ATAC	NR_023343.1(RNU4ATAC):n.46G>A	SNV	Pathogenic	636959	rs1032667950	2:122288501-122288501	2:121530925-121530925
5	RNU4ATAC	NM_015282.3(CLASP1):c.196-674A>C	SNV	Pathogenic	977779		2:122288575-122288575	2:121530999-121530999
6	RNU4ATAC	NM_015282.3(CLASP1):c.196-668C>G	SNV	Pathogenic	977780		2:122288569-122288569	2:121530993-121530993
7	RNU4ATAC	NM_015282.3(CLASP1):c.196-562G>T	SNV	Likely pathogenic	692040	rs370715569	2:122288463-122288463	2:121530887-121530887
8	RNU4ATAC	NM_015282.3(CLASP1):c.196-607G>A	SNV	Likely pathogenic	692041	rs180755563	2:122288508-122288508	2:121530932-121530932

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Expression for Lowry-Wood Syndrome

Search GEO for disease gene expression data for Lowry-Wood Syndrome.

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Pathways for Lowry-Wood Syndrome

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GO Terms for Lowry-Wood Syndrome

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Sources for Lowry-Wood Syndrome

¹ BioSystems

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⁴ Cell Signaling Technology

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²⁴ GeneHancer via GeneCards

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²⁷ GEO DataSets

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³⁵ IUPHAR

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³⁷ LifeMap

³⁸ LncRNADisease

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⁴⁰ MalaCards

⁴¹ MedGen

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⁴⁴ MeSH

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⁴⁷ miR2Disease

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⁵² NIH Clinical Center

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 05-Mar-2021)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

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⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

Lowry-Wood Syndrome (LWS)

Aliases & Classifications for Lowry-Wood Syndrome

MalaCards integrated aliases for Lowry-Wood Syndrome:

Characteristics:

Orphanet epidemiological data:

OMIM®:

HPO:

Classifications:

External Ids:

Summaries for Lowry-Wood Syndrome

Related Diseases for Lowry-Wood Syndrome

Diseases related to Lowry-Wood Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Lowry-Wood Syndrome:

Symptoms & Phenotypes for Lowry-Wood Syndrome

Human phenotypes related to Lowry-Wood Syndrome:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

Drugs & Therapeutics for Lowry-Wood Syndrome

Genetic Tests for Lowry-Wood Syndrome

Anatomical Context for Lowry-Wood Syndrome

Publications for Lowry-Wood Syndrome

Articles related to Lowry-Wood Syndrome:

Genes for Lowry-Wood Syndrome

Genes related to Lowry-Wood Syndrome (1 elite genes):

Variations for Lowry-Wood Syndrome

ClinVar genetic disease variations for Lowry-Wood Syndrome:

Expression for Lowry-Wood Syndrome

Pathways for Lowry-Wood Syndrome

GO Terms for Lowry-Wood Syndrome

Sources for Lowry-Wood Syndrome