RDJCSS
MCID: RTN174
MIFTS: 24

Retinal Dystrophy, Juvenile Cataracts, and Short Stature Syndrome (RDJCSS)

Categories: Eye diseases, Genetic diseases, Neuronal 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 72 36 29 6 70
Rdjcss 57 72
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome 58
Dystrophy, Retinal, Juvenile Cataracts, and Short Stature Syndrome 39
Retinal Dystrophy-Juvenile Cataract-Short Stature Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM®:

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

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


HPO:

31
retinal dystrophy, juvenile cataracts, and short stature syndrome:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases


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

UniProtKB/Swiss-Prot : 72 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, is also known as rdjcss. 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 Retinol metabolism. Affiliated tissues include eye, bone and retina, and related phenotypes are global developmental delay and abnormal facial shape

KEGG : 36 Retinal dystrophy, juvenile cataracts, and short stature syndrome (RDJCSS) is an autosomal recessive retinitis pigmentosa with systemic features, including facial dysmorphologies, psychomotor developmental delays, learning disabilities and short stature. RDJCSS is caused by nonsense mutations in retinol dehydrogenase RDH11. In the eye, RDH11 has an oxidoreductive function in the visual cycle.

More information from OMIM: 616108

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

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

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

58 31 (show all 31)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
2 abnormal facial shape 58 31 hallmark (90%) Very frequent (99-80%) HP:0001999
3 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
4 progressive visual loss 58 31 hallmark (90%) Very frequent (99-80%) HP:0000529
5 intellectual disability, moderate 58 31 hallmark (90%) Very frequent (99-80%) HP:0002342
6 underdeveloped nasal alae 58 31 hallmark (90%) Very frequent (99-80%) HP:0000430
7 rod-cone dystrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0000510
8 progressive night blindness 58 31 hallmark (90%) Very frequent (99-80%) HP:0007675
9 juvenile cataract 58 31 hallmark (90%) Very frequent (99-80%) HP:0001118
10 short neck 58 31 frequent (33%) Frequent (79-30%) HP:0000470
11 dental malocclusion 58 31 frequent (33%) Frequent (79-30%) HP:0000689
12 micrognathia 58 31 frequent (33%) Frequent (79-30%) HP:0000347
13 low-set ears 58 31 frequent (33%) Frequent (79-30%) HP:0000369
14 specific learning disability 58 31 frequent (33%) Frequent (79-30%) HP:0001328
15 upslanted palpebral fissure 58 31 frequent (33%) Frequent (79-30%) HP:0000582
16 brachydactyly 58 31 frequent (33%) Frequent (79-30%) HP:0001156
17 malar flattening 58 31 frequent (33%) Frequent (79-30%) HP:0000272
18 broad columella 58 31 frequent (33%) Frequent (79-30%) HP:0010761
19 constriction of peripheral visual field 58 31 frequent (33%) Frequent (79-30%) HP:0001133
20 poor fine motor coordination 58 31 frequent (33%) Frequent (79-30%) HP:0007010
21 attached earlobe 58 31 frequent (33%) Frequent (79-30%) HP:0009907
22 incoordination 58 31 frequent (33%) Frequent (79-30%) HP:0002311
23 diastema 58 31 frequent (33%) Frequent (79-30%) HP:0000699
24 undetectable visual evoked potentials 58 31 frequent (33%) Frequent (79-30%) HP:0007965
25 patchy atrophy of the retinal pigment epithelium 58 31 frequent (33%) Frequent (79-30%) HP:0007791
26 macrotia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000400
27 downslanted palpebral fissures 58 31 occasional (7.5%) Occasional (29-5%) HP:0000494
28 widely spaced teeth 31 HP:0000687
29 psychomotor retardation 31 HP:0025356
30 retinal dystrophy 31 HP:0000556
31 mottled pigmentation 31 HP:0001070

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Teeth:
widely spaced teeth
malocclusion

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

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

Head And Neck Face:
malar hypoplasia

Head And Neck Ears:
attached ear lobes

Clinical features from OMIM®:

616108 (Updated 05-Apr-2021)

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:

40
Eye, Bone, Retina

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

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

# Title Authors PMID Year
1
New syndrome with retinitis pigmentosa is caused by nonsense mutations in retinol dehydrogenase RDH11. 57 6
24916380 2014

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

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

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 RDH11 NM_016026.4(RDH11):c.322C>T (p.Arg108Ter) SNV Pathogenic 161116 rs606231424 GRCh37: 14:68159182-68159182
GRCh38: 14:67692465-67692465
2 RDH11 NM_016026.4(RDH11):c.199C>T (p.Arg67Ter) SNV Pathogenic 161115 rs606231423 GRCh37: 14:68159305-68159305
GRCh38: 14:67692588-67692588
3 RDH11 NM_016026.4(RDH11):c.454+2T>A SNV Pathogenic 1033386 GRCh37: 14:68157855-68157855
GRCh38: 14:67691138-67691138
4 RDH11 NM_016026.4(RDH11):c.847C>A (p.His283Asn) SNV Uncertain significance 1029425 GRCh37: 14:68151739-68151739
GRCh38: 14:67685022-67685022

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...

Pathways related to Retinal Dystrophy, Juvenile Cataracts, and Short Stature Syndrome according to KEGG:

36
# Name Kegg Source Accession
1 Retinol metabolism hsa00830

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

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

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
Content
Loading form....