JLSM
MCID: JNT004
MIFTS: 21

Joint Laxity, Short Stature, and Myopia (JLSM)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Rare 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 72 36 29 6
Jlsm 57 72
Severe Myopia-Generalized Joint Laxity-Short Stature Syndrome 58

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive


HPO:

31
joint laxity, short stature, and myopia:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


Summaries for Joint Laxity, Short Stature, and Myopia

KEGG : 36 Joint laxity, short stature, and myopia (JLSM) is a rare autosomal recessive connective-tissue disease caused by mutations in GZF1. JSLM is characterized by severe myopia and significant articular involvement. GZF1 encodes a transcription factor which is expressed in the eyes and limbs.

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, and related phenotypes are hearing impairment and talipes equinovarus

UniProtKB/Swiss-Prot : 72 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.

More information from OMIM: 617662

Related Diseases for Joint Laxity, Short Stature, and Myopia

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

Human phenotypes related to Joint Laxity, Short Stature, and Myopia:

31 (show all 14)
# Description HPO Frequency HPO Source Accession
1 hearing impairment 31 very rare (1%) HP:0000365
2 talipes equinovarus 31 very rare (1%) HP:0001762
3 retinal detachment 31 very rare (1%) HP:0000541
4 iris coloboma 31 very rare (1%) HP:0000612
5 chorioretinal coloboma 31 very rare (1%) HP:0000567
6 short neck 31 HP:0000470
7 osteopenia 31 HP:0000938
8 pectus carinatum 31 HP:0000768
9 short stature 31 HP:0004322
10 kyphoscoliosis 31 HP:0002751
11 glaucoma 31 HP:0000501
12 proptosis 31 HP:0000520
13 restrictive ventilatory defect 31 HP:0002091
14 high myopia 31 HP:0011003

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Neck:
short neck

Chest Ribs Sternum Clavicles And Scapulae:
pectus carinatum

Respiratory Lung:
restrictive lung disease

Skeletal Feet:
talipes equinovarus (in some patients)

Skeletal Spine:
progressive kyphoscoliosis

Skeletal:
osteopenia

Growth Height:
short stature

Head And Neck Eyes:
exophthalmos
severe myopia
iris coloboma (in some patients)
retinal detachment (in some patients)
chorioretinal coloboma (in some patients)
more
Head And Neck Ears:
hearing loss (in some patients)

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

Clinical features from OMIM®:

617662 (Updated 05-Apr-2021)

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

Genetic tests related to Joint Laxity, Short Stature, and Myopia:

# Genetic test Affiliating Genes
1 Joint Laxity, Short Stature, and Myopia 29 GZF1

Anatomical Context for Joint Laxity, Short Stature, and Myopia

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

40
Lung

Publications for Joint Laxity, Short Stature, and Myopia

Articles related to Joint Laxity, Short Stature, and Myopia:

# Title Authors PMID Year
1
GZF1 Mutations Expand the Genetic Heterogeneity of Larsen Syndrome. 6 57
28475863 2017

Variations for Joint Laxity, Short Stature, and Myopia

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

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GZF1 NM_022482.5(GZF1):c.865G>T (p.Glu289Ter) SNV Pathogenic 438348 rs1555786618 GRCh37: 20:23345885-23345885
GRCh38: 20:23365248-23365248
2 GZF1 NM_022482.5(GZF1):c.1054dup (p.Thr352fs) Duplication Pathogenic 438349 rs1555786729 GRCh37: 20:23346073-23346074
GRCh38: 20:23365436-23365437
3 GZF1 NM_022482.5(GZF1):c.2091_2094del (p.Asp698fs) Microsatellite Pathogenic 1033598 GRCh37: 20:23351027-23351030
GRCh38: 20:23370390-23370393
4 GZF1 NM_022482.5(GZF1):c.491G>A (p.Arg164Lys) SNV Uncertain significance 1033599 GRCh37: 20:23345511-23345511
GRCh38: 20:23364874-23364874
5 GZF1 NM_022482.5(GZF1):c.979C>G (p.Leu327Val) SNV Uncertain significance 1034008 GRCh37: 20:23345999-23345999
GRCh38: 20:23365362-23365362
6 GZF1 NM_022482.5(GZF1):c.1234T>A (p.Cys412Ser) SNV Uncertain significance 1028268 GRCh37: 20:23346254-23346254
GRCh38: 20:23365617-23365617
7 GZF1 NM_022482.5(GZF1):c.1627+9G>A SNV Uncertain significance 1028269 GRCh37: 20:23349575-23349575
GRCh38: 20:23368938-23368938

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 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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