MCID: DYS181
MIFTS: 11

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 58
Dyssegmental Dysplasia and Glaucoma 54

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
dyssegmental dysplasia with glaucoma:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Dyssegmental Dysplasia with Glaucoma

MalaCards based summary : Dyssegmental Dysplasia with Glaucoma, is also known as dyssegmental dysplasia and glaucoma. 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

Human phenotypes related to Dyssegmental Dysplasia with Glaucoma:

33 (show all 15)
# Description HPO Frequency HPO Source Accession
1 malar flattening 33 HP:0000272
2 short stature 33 HP:0004322
3 cleft palate 33 HP:0000175
4 platyspondyly 33 HP:0000926
5 micromelia 33 HP:0002983
6 short long bone 33 HP:0003026
7 dolichocephaly 33 HP:0000268
8 elbow flexion contracture 33 HP:0002987
9 glaucoma 33 HP:0000501
10 wide anterior fontanel 33 HP:0000260
11 broad long bones 33 HP:0005622
12 proptosis 33 HP:0000520
13 hip contracture 33 HP:0003273
14 flared metaphysis 33 HP:0003015
15 delayed epiphyseal ossification 33 HP:0002663

Symptoms via clinical synopsis from OMIM:

58
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

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:

42
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 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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