MCID: RTN174
MIFTS: 24

Retinal Dystrophy, Juvenile Cataracts, and Short Stature Syndrome

Categories: Genetic diseases, Neuronal diseases, Eye diseases, Rare diseases

Aliases & Classifications for Retinal Dystrophy, Juvenile Cataracts, and Short Stature...

MalaCards integrated aliases for Retinal Dystrophy, Juvenile Cataracts, and Short Stature Syndrome:

Name: Retinal Dystrophy, Juvenile Cataracts, and Short Stature Syndrome 57 75 29 6 73
Rdjcss 57 75
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome 59
Dystrophy, Retinal, Juvenile Cataracts, and Short Stature Syndrome 40
Retinal Dystrophy-Juvenile Cataract-Short Stature Syndrome 59

Characteristics:

Orphanet epidemiological data:

59
retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset of symptoms in first decade of life
one family of italian-american descent has been described


HPO:

32
retinal dystrophy, juvenile cataracts, and short stature syndrome:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 616108
Orphanet 59 ORPHA436245
ICD10 via Orphanet 34 Q87.8
UMLS 73 C4015242

Summaries for Retinal Dystrophy, Juvenile Cataracts, and Short Stature...

UniProtKB/Swiss-Prot : 75 Retinal dystrophy, juvenile cataracts, and short stature syndrome: A disorder characterized by retinal dystrophy resulting in progressive decrease in visual acuity and difficulties with night vision in the first decade of life, development of juvenile cataracts, facial dysmorphism, psychomotor developmental delays, learning disabilities and short stature. Ophthalmological findings include salt-and-pepper retinopathy, attenuation of the arterioles, generalized rod-cone dysfunction, mottled macula at an early age, and peripapillary sparing of the retinal pigment epithelium.

MalaCards based summary : Retinal Dystrophy, Juvenile Cataracts, and Short Stature Syndrome, also known as rdjcss, is related to retinitis pigmentosa. An important gene associated with Retinal Dystrophy, Juvenile Cataracts, and Short Stature Syndrome is RDH11 (Retinol Dehydrogenase 11), and among its related pathways/superpathways is Metabolism of water-soluble vitamins and cofactors. Affiliated tissues include retina, bone and eye, and related phenotypes are malar flattening and retinal dystrophy

Description from OMIM: 616108

Related Diseases for Retinal Dystrophy, Juvenile Cataracts, and Short Stature...

Diseases related to Retinal Dystrophy, Juvenile Cataracts, and Short Stature Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 retinitis pigmentosa 9.0 GPHN RDH11

Symptoms & Phenotypes for Retinal Dystrophy, Juvenile Cataracts, and Short Stature...

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Teeth:
widely spaced teeth
malocclusion

Head And Neck Face:
malar hypoplasia

Head And Neck Eyes:
juvenile cataracts
attenuation of retinal arterioles
upslanting palpebral fissures, mild
progressive decrease in visual acuity
decrease in night vision
more
Head And Neck Nose:
prominent alae nasae

Growth Height:
short stature

Neurologic Central Nervous System:
psychomotor retardation
learning difficulties
difficulties with fine motor skills and coordination

Head And Neck Ears:
attached ear lobes


Clinical features from OMIM:

616108

Human phenotypes related to Retinal Dystrophy, Juvenile Cataracts, and Short Stature Syndrome:

32 (show all 7)
# Description HPO Frequency HPO Source Accession
1 malar flattening 32 HP:0000272
2 retinal dystrophy 32 HP:0000556
3 upslanted palpebral fissure 32 HP:0000582
4 widely spaced teeth 32 HP:0000687
5 dental malocclusion 32 HP:0000689
6 global developmental delay 32 HP:0001263
7 short stature 32 HP:0004322

MGI Mouse Phenotypes related to Retinal Dystrophy, Juvenile Cataracts, and Short Stature Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 vision/eye MP:0005391 8.62 GPHN RDH11

Drugs & Therapeutics for Retinal Dystrophy, Juvenile Cataracts, and Short Stature...

Search Clinical Trials , NIH Clinical Center for Retinal Dystrophy, Juvenile Cataracts, and Short Stature Syndrome

Genetic Tests for Retinal Dystrophy, Juvenile Cataracts, and Short Stature...

Genetic tests related to Retinal Dystrophy, Juvenile Cataracts, and Short Stature Syndrome:

# Genetic test Affiliating Genes
1 Retinal Dystrophy, Juvenile Cataracts, and Short Stature Syndrome 29 RDH11

Anatomical Context for Retinal Dystrophy, Juvenile Cataracts, and Short Stature...

MalaCards organs/tissues related to Retinal Dystrophy, Juvenile Cataracts, and Short Stature Syndrome:

41
Retina, Bone, Eye

Publications for Retinal Dystrophy, Juvenile Cataracts, and Short Stature...

Variations for Retinal Dystrophy, Juvenile Cataracts, and Short Stature...

ClinVar genetic disease variations for Retinal Dystrophy, Juvenile Cataracts, and Short Stature Syndrome:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 RDH11 NM_016026.3(RDH11): c.199C> T (p.Arg67Ter) single nucleotide variant Pathogenic rs606231423 GRCh38 Chromosome 14, 67692588: 67692588
2 RDH11 NM_016026.3(RDH11): c.199C> T (p.Arg67Ter) single nucleotide variant Pathogenic rs606231423 GRCh37 Chromosome 14, 68159305: 68159305
3 RDH11 NM_016026.3(RDH11): c.322C> T (p.Arg108Ter) single nucleotide variant Pathogenic rs606231424 GRCh37 Chromosome 14, 68159182: 68159182
4 RDH11 NM_016026.3(RDH11): c.322C> T (p.Arg108Ter) single nucleotide variant Pathogenic rs606231424 GRCh38 Chromosome 14, 67692465: 67692465

Expression for Retinal Dystrophy, Juvenile Cataracts, and Short Stature...

Search GEO for disease gene expression data for Retinal Dystrophy, Juvenile Cataracts, and Short Stature Syndrome.

Pathways for Retinal Dystrophy, Juvenile Cataracts, and Short Stature...

GO Terms for Retinal Dystrophy, Juvenile Cataracts, and Short Stature...

Biological processes related to Retinal Dystrophy, Juvenile Cataracts, and Short Stature Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 8.62 GPHN RDH11

Sources for Retinal Dystrophy, Juvenile Cataracts, and Short Stature...

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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