MCID: DYS181
MIFTS: 15

Dyssegmental Dysplasia with Glaucoma

Categories: Rare diseases

Aliases & Classifications for Dyssegmental Dysplasia with Glaucoma

MalaCards integrated aliases for Dyssegmental Dysplasia with Glaucoma:

Name: Dyssegmental Dysplasia with Glaucoma 57
Dyssegmental Dysplasia-Glaucoma Syndrome 59
Dyssegmental Dysplasia and Glaucoma 53

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
dyssegmental dysplasia with glaucoma:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 601561
Orphanet 59 ORPHA1804
UMLS via Orphanet 74 C1832111
MedGen 42 C1832111

Summaries for Dyssegmental Dysplasia with Glaucoma

MalaCards based summary : Dyssegmental Dysplasia with Glaucoma, is also known as dyssegmental dysplasia-glaucoma syndrome. Affiliated tissues include bone, and related phenotypes are malar flattening and short stature

Description from OMIM: 601561

Related Diseases for Dyssegmental Dysplasia with Glaucoma

Symptoms & Phenotypes for Dyssegmental Dysplasia with Glaucoma

Symptoms via clinical synopsis from OMIM:

57
Growth Height:
short stature

Head And Neck Head:
dolichocephaly
large anterior fontanel

Skeletal Limbs:
elbow contractures
micromelia, severe
short, broad long bones with flared metaphyses
detailed epiphyseal ossification

Skeletal Spine:
flat vertebral bodies

Head And Neck Mouth:
cleft palate

Head And Neck Face:
malar hypoplasia

Skeletal Pelvis:
hip contractures

Head And Neck Eyes:
glaucoma, severe
exophthalmia


Clinical features from OMIM:

601561

Human phenotypes related to Dyssegmental Dysplasia with Glaucoma:

32 (show all 15)
# Description HPO Frequency HPO Source Accession
1 malar flattening 32 HP:0000272
2 short stature 32 HP:0004322
3 cleft palate 32 HP:0000175
4 platyspondyly 32 HP:0000926
5 micromelia 32 HP:0002983
6 short long bone 32 HP:0003026
7 dolichocephaly 32 HP:0000268
8 elbow flexion contracture 32 HP:0002987
9 glaucoma 32 HP:0000501
10 wide anterior fontanel 32 HP:0000260
11 broad long bones 32 HP:0005622
12 proptosis 32 HP:0000520
13 hip contracture 32 HP:0003273
14 flared metaphysis 32 HP:0003015
15 delayed epiphyseal ossification 32 HP:0002663

Drugs & Therapeutics for Dyssegmental Dysplasia with Glaucoma

Search Clinical Trials , NIH Clinical Center for Dyssegmental Dysplasia with Glaucoma

Genetic Tests for Dyssegmental Dysplasia with Glaucoma

Anatomical Context for Dyssegmental Dysplasia with Glaucoma

MalaCards organs/tissues related to Dyssegmental Dysplasia with Glaucoma:

41
Bone

Publications for Dyssegmental Dysplasia with Glaucoma

Variations for Dyssegmental Dysplasia with Glaucoma

Expression for Dyssegmental Dysplasia with Glaucoma

Search GEO for disease gene expression data for Dyssegmental Dysplasia with Glaucoma.

Pathways for Dyssegmental Dysplasia with Glaucoma

GO Terms for Dyssegmental Dysplasia with Glaucoma

Sources for Dyssegmental Dysplasia with Glaucoma

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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