MCID: JNT004
MIFTS: 12

Joint Laxity, Short Stature, and Myopia

Categories: Genetic diseases

Aliases & Classifications for Joint Laxity, Short Stature, and Myopia

MalaCards integrated aliases for Joint Laxity, Short Stature, and Myopia:

Name: Joint Laxity, Short Stature, and Myopia 57 75 6
Jlsm 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


Classifications:



External Ids:

OMIM 57 617662

Summaries for Joint Laxity, Short Stature, and Myopia

UniProtKB/Swiss-Prot : 75 Joint laxity, short stature, and myopia: An autosomal recessive disease characterized by generalized joint laxity, joint dislocation, pectus carinatum, short stature, and severe myopia with retinal detachment.

MalaCards based summary : Joint Laxity, Short Stature, and Myopia, is also known as jlsm. An important gene associated with Joint Laxity, Short Stature, and Myopia is GZF1 (GDNF Inducible Zinc Finger Protein 1). Affiliated tissues include lung.

Description from OMIM: 617662

Related Diseases for Joint Laxity, Short Stature, and Myopia

Symptoms & Phenotypes for Joint Laxity, Short Stature, and Myopia

Symptoms via clinical synopsis from OMIM:

57
Growth Height:
short stature

Head And Neck Eyes:
exophthalmos
severe myopia
retinal detachment (in some patients)
iris coloboma (in some patients)
chorioretinal coloboma (in some patients)
more
Respiratory Lung:
restrictive lung disease

Skeletal:
osteopenia

Skeletal Limbs:
hyperextensibility of joints
multiple large joint dislocations (in some patients)

Head And Neck Ears:
hearing loss (in some patients)

Head And Neck Neck:
short neck

Chest Ribs Sternum Clavicles And Scapulae:
pectus carinatum

Skeletal Spine:
progressive kyphoscoliosis

Skeletal Feet:
talipes equinovarus (in some patients)


Clinical features from OMIM:

617662

Drugs & Therapeutics for Joint Laxity, Short Stature, and Myopia

Search Clinical Trials , NIH Clinical Center for Joint Laxity, Short Stature, and Myopia

Genetic Tests for Joint Laxity, Short Stature, and Myopia

Anatomical Context for Joint Laxity, Short Stature, and Myopia

MalaCards organs/tissues related to Joint Laxity, Short Stature, and Myopia:

41
Lung

Publications for Joint Laxity, Short Stature, and Myopia

Variations for Joint Laxity, Short Stature, and Myopia

ClinVar genetic disease variations for Joint Laxity, Short Stature, and Myopia:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 GZF1 NM_022482.4(GZF1): c.865G> T (p.Glu289Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 20, 23345885: 23345885
2 GZF1 NM_022482.4(GZF1): c.865G> T (p.Glu289Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 20, 23365248: 23365248
3 GZF1 NM_022482.4(GZF1): c.1054dup (p.Thr352Asnfs) duplication Pathogenic GRCh37 Chromosome 20, 23346074: 23346074
4 GZF1 NM_022482.4(GZF1): c.1054dup (p.Thr352Asnfs) duplication Pathogenic GRCh38 Chromosome 20, 23365437: 23365437

Expression for Joint Laxity, Short Stature, and Myopia

Search GEO for disease gene expression data for Joint Laxity, Short Stature, and Myopia.

Pathways for Joint Laxity, Short Stature, and Myopia

GO Terms for Joint Laxity, Short Stature, and Myopia

Sources for Joint Laxity, Short Stature, and Myopia

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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