MCID: EPP020
MIFTS: 27

Epiphyseal Dysplasia, Microcephaly, and Nystagmus

Categories: Rare diseases, Bone diseases, Fetal diseases

Aliases & Classifications for Epiphyseal Dysplasia, Microcephaly, and Nystagmus

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

Name: Epiphyseal Dysplasia, Microcephaly, and Nystagmus 57
Lowry-Wood Syndrome 57 59
Lowry Wood Syndrome 53 73
Lws 57 53
Epiphyseal Dysplasia-Microcephaly-Nystagmus Syndrome 59
Epiphyseal Dysplasia, Microcephaly and Nystagmus 53
Lowry-Wood Syndrome; Lws 57

Characteristics:

Orphanet epidemiological data:

59
lowry-wood syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
epiphyseal dysplasia, microcephaly, and nystagmus:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 226960
Orphanet 59 ORPHA1824
MESH via Orphanet 45 C537038
UMLS via Orphanet 74 C0796021
ICD10 via Orphanet 34 Q87.5
MedGen 42 C0796021
UMLS 73 C0796021

Summaries for Epiphyseal Dysplasia, Microcephaly, and Nystagmus

NIH Rare Diseases : 53 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 woods syndrome. An important gene associated with Epiphyseal Dysplasia, Microcephaly, and Nystagmus is RNU4ATAC (RNA, U4atac Small Nuclear (U12-Dependent Splicing)). Affiliated tissues include bone, and related phenotypes are nystagmus and intellectual disability

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 12)
# Related Disease Score Top Affiliating Genes
1 blood group system, landsteiner-wiener 11.6
2 woods syndrome 10.4
3 microcephaly-intellectual disability-phalangeal and neurological anomalies syndrome 10.4
4 microcephaly 10.2
5 multiple epiphyseal dysplasia 10.2
6 coxa vara 10.1
7 nail disorder, nonsyndromic congenital, 3 10.1
8 congenital nystagmus 10.1
9 leukonychia totalis 10.1
10 diabetes mellitus 9.9
11 exocrine pancreatic insufficiency 9.9
12 pancreatitis 9.9

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

Symptoms via clinical synopsis from OMIM:

57
HEENT:
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

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

59 32 (show all 26)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nystagmus 59 32 frequent (33%) Frequent (79-30%) HP:0000639
2 intellectual disability 59 32 frequent (33%) Frequent (79-30%) HP:0001249
3 delayed skeletal maturation 59 32 occasional (7.5%) Occasional (29-5%) HP:0002750
4 joint stiffness 59 32 occasional (7.5%) Occasional (29-5%) HP:0001387
5 microcephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000252
6 visual impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000505
7 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
8 abnormality of retinal pigmentation 59 32 frequent (33%) Frequent (79-30%) HP:0007703
9 arthralgia 59 32 frequent (33%) Frequent (79-30%) HP:0002829
10 epiphyseal dysplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002656
11 platyspondyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0000926
12 brachydactyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001156
13 patellar dislocation 59 32 occasional (7.5%) Occasional (29-5%) HP:0002999
14 coxa vara 59 32 frequent (33%) Frequent (79-30%) HP:0002812
15 aplasia/hypoplasia of the corpus callosum 59 32 occasional (7.5%) Occasional (29-5%) HP:0007370
16 astigmatism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000483
17 abnormality of nail color 59 32 occasional (7.5%) Occasional (29-5%) HP:0100643
18 dislocated radial head 59 32 occasional (7.5%) Occasional (29-5%) HP:0003083
19 irregular epiphyses 59 32 hallmark (90%) Very frequent (99-80%) HP:0010582
20 abnormality of epiphysis morphology 59 Very frequent (99-80%)
21 intellectual disability, mild 32 HP:0001256
22 elbow dislocation 59 Occasional (29-5%)
23 squared iliac bones 32 HP:0003177
24 small for gestational age 32 HP:0001518
25 small epiphyses 32 HP:0010585
26 shallow acetabular fossae 32 HP:0003182

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:

41
Bone

Publications for Epiphyseal Dysplasia, Microcephaly, and Nystagmus

Articles related to Epiphyseal Dysplasia, Microcephaly, and Nystagmus:

# Title Authors Year
1
Multiple joint dislocations: an additional skeletal finding in Lowry-Wood syndrome? ( 19288552 )
2009
2
A new patient with Lowry-Wood syndrome with mild phenotype. ( 12605445 )
2003
3
Multiple epiphyseal dysplasia with small head, congenital nystagmus, hypoplasia of corpus callosum, and leukonychia totalis: a variant of Lowry-Wood syndrome? ( 7747786 )
1995
4
Epiphyseal dysplasia with coxa vara, microcephaly, and normal intelligence in sibs: expanded spectrum of Lowry-Wood syndrome? ( 2801767 )
1989
5
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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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