MCID: EPP020
MIFTS: 28

Epiphyseal Dysplasia, Microcephaly, and Nystagmus

Categories: Bone diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Epiphyseal Dysplasia, Microcephaly, and Nystagmus

MalaCards integrated aliases for Epiphyseal Dysplasia, Microcephaly, and Nystagmus:

Name: Epiphyseal Dysplasia, Microcephaly, and Nystagmus 58
Lowry-Wood Syndrome 58 60
Lowry Wood Syndrome 54 74
Lws 58 54
Epiphyseal Dysplasia-Microcephaly-Nystagmus Syndrome 60
Epiphyseal Dysplasia, Microcephaly and Nystagmus 54
Dysplasia, Epiphyseal, Microcephaly, Nystagmus 41
Lowry-Wood Syndrome; Lws 58

Characteristics:

Orphanet epidemiological data:

60
lowry-wood syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
epiphyseal dysplasia, microcephaly, and nystagmus:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 58 226960
MESH via Orphanet 46 C537038
ICD10 via Orphanet 35 Q87.5
UMLS via Orphanet 75 C0796021
Orphanet 60 ORPHA1824
MedGen 43 C0796021
UMLS 74 C0796021

Summaries for Epiphyseal Dysplasia, Microcephaly, and Nystagmus

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 1824Disease definitionLowry-Wood syndrome is characterized by the association of epiphyseal dysplasia, short stature, microcephaly and, in the first reported cases, congenitalnystagmus. 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 (see this term) and coxa vara. Transmission appears to be autosomal recessive.Visit the Orphanet disease page for more resources.

MalaCards based summary : Epiphyseal Dysplasia, Microcephaly, and Nystagmus, also known as lowry-wood syndrome, is related to blood group system, landsteiner-wiener and multiple epiphyseal dysplasia. An important gene associated with Epiphyseal Dysplasia, Microcephaly, and Nystagmus is RNU4ATAC (RNA, U4atac Small Nuclear (U12-Dependent Splicing)). Affiliated tissues include bone and prostate, and related phenotypes are microcephaly and short stature

Description from OMIM: 226960

Related Diseases for Epiphyseal Dysplasia, Microcephaly, and Nystagmus

Diseases related to Epiphyseal Dysplasia, Microcephaly, and Nystagmus via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 20)
# Related Disease Score Top Affiliating Genes
1 blood group system, landsteiner-wiener 12.1
2 multiple epiphyseal dysplasia 10.4
3 microcephaly 10.4
4 alzheimer disease 10.2
5 leukemia 10.2
6 coxa vara 10.2
7 nail disorder, nonsyndromic congenital, 3 10.2
8 congenital nystagmus 10.2
9 pathologic nystagmus 10.2
10 leukonychia totalis 10.2
11 hemolytic anemia 10.1
12 pityriasis rubra pilaris 10.0
13 prostate cancer 10.0
14 immune deficiency disease 10.0
15 aging 10.0
16 prostate cancer, hereditary, 8 10.0
17 prostate cancer, hereditary, 6 10.0
18 diabetes mellitus 10.0
19 exocrine pancreatic insufficiency 10.0
20 thrombosis 10.0

Graphical network of the top 20 diseases related to Epiphyseal Dysplasia, Microcephaly, and Nystagmus:



Diseases related to Epiphyseal Dysplasia, Microcephaly, and Nystagmus

Symptoms & Phenotypes for Epiphyseal Dysplasia, Microcephaly, and Nystagmus

Human phenotypes related to Epiphyseal Dysplasia, Microcephaly, and Nystagmus:

60 33 (show all 26)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 microcephaly 60 33 hallmark (90%) Very frequent (99-80%) HP:0000252
2 short stature 60 33 hallmark (90%) Very frequent (99-80%) HP:0004322
3 epiphyseal dysplasia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002656
4 irregular epiphyses 60 33 hallmark (90%) Very frequent (99-80%) HP:0010582
5 nystagmus 60 33 frequent (33%) Frequent (79-30%) HP:0000639
6 intellectual disability 60 33 frequent (33%) Frequent (79-30%) HP:0001249
7 abnormality of retinal pigmentation 60 33 frequent (33%) Frequent (79-30%) HP:0007703
8 arthralgia 60 33 frequent (33%) Frequent (79-30%) HP:0002829
9 coxa vara 60 33 frequent (33%) Frequent (79-30%) HP:0002812
10 delayed skeletal maturation 60 33 occasional (7.5%) Occasional (29-5%) HP:0002750
11 joint stiffness 60 33 occasional (7.5%) Occasional (29-5%) HP:0001387
12 visual impairment 60 33 occasional (7.5%) Occasional (29-5%) HP:0000505
13 platyspondyly 60 33 occasional (7.5%) Occasional (29-5%) HP:0000926
14 brachydactyly 60 33 occasional (7.5%) Occasional (29-5%) HP:0001156
15 patellar dislocation 60 33 occasional (7.5%) Occasional (29-5%) HP:0002999
16 aplasia/hypoplasia of the corpus callosum 60 33 occasional (7.5%) Occasional (29-5%) HP:0007370
17 astigmatism 60 33 occasional (7.5%) Occasional (29-5%) HP:0000483
18 abnormality of nail color 60 33 occasional (7.5%) Occasional (29-5%) HP:0100643
19 dislocated radial head 60 33 occasional (7.5%) Occasional (29-5%) HP:0003083
20 abnormality of epiphysis morphology 60 Very frequent (99-80%)
21 intellectual disability, mild 33 HP:0001256
22 elbow dislocation 60 Occasional (29-5%)
23 squared iliac bones 33 HP:0003177
24 small for gestational age 33 HP:0001518
25 small epiphyses 33 HP:0010585
26 shallow acetabular fossae 33 HP:0003182

Symptoms via clinical synopsis from OMIM:

58
H E E N T:
nystagmus
microcephaly

Skel:
small epiphyses
irregular epiphyses
square iliac bones
flattened acetabulae

Growth:
short stature
small for gestational age

Neuro:
mild mental retardation

Clinical features from OMIM:

226960

Drugs & Therapeutics for Epiphyseal Dysplasia, Microcephaly, and Nystagmus

Search Clinical Trials , NIH Clinical Center for Epiphyseal Dysplasia, Microcephaly, and Nystagmus

Genetic Tests for Epiphyseal Dysplasia, Microcephaly, and Nystagmus

Anatomical Context for Epiphyseal Dysplasia, Microcephaly, and Nystagmus

MalaCards organs/tissues related to Epiphyseal Dysplasia, Microcephaly, and Nystagmus:

42
Bone, Prostate

Publications for Epiphyseal Dysplasia, Microcephaly, and Nystagmus

Articles related to Epiphyseal Dysplasia, Microcephaly, and Nystagmus:

# Title Authors Year
1
The expanding phenotype of RNU4ATAC pathogenic variants to Lowry Wood syndrome. ( 29265708 )
2018
2
Lowry-Wood syndrome: further evidence of association with RNU4ATAC, and correlation between genotype and phenotype. ( 30368667 )
2018
3
Multiple joint dislocations: an additional skeletal finding in Lowry-Wood syndrome? ( 19288552 )
2009
4
A new patient with Lowry-Wood syndrome with mild phenotype. ( 12605445 )
2003
5
Multiple epiphyseal dysplasia with small head, congenital nystagmus, hypoplasia of corpus callosum, and leukonychia totalis: a variant of Lowry-Wood syndrome? ( 7747786 )
1995
6
Epiphyseal dysplasia with coxa vara, microcephaly, and normal intelligence in sibs: expanded spectrum of Lowry-Wood syndrome? ( 2801767 )
1989
7
Syndrome of short stature, microcephaly, mental retardation, and multiple epiphyseal dysplasia--Lowry-Wood syndrome. ( 3706411 )
1986

Variations for Epiphyseal Dysplasia, Microcephaly, and Nystagmus

Expression for Epiphyseal Dysplasia, Microcephaly, and Nystagmus

Search GEO for disease gene expression data for Epiphyseal Dysplasia, Microcephaly, and Nystagmus.

Pathways for Epiphyseal Dysplasia, Microcephaly, and Nystagmus

GO Terms for Epiphyseal Dysplasia, Microcephaly, and Nystagmus

Sources for Epiphyseal Dysplasia, Microcephaly, and Nystagmus

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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