RPSKA
MCID: RTN194
MIFTS: 26

Retinitis Pigmentosa with or Without Skeletal Anomalies (RPSKA)

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

Aliases & Classifications for Retinitis Pigmentosa with or Without Skeletal Anomalies

MalaCards integrated aliases for Retinitis Pigmentosa with or Without Skeletal Anomalies:

Name: Retinitis Pigmentosa with or Without Skeletal Anomalies 57 72 29 6
Metaphyseal Chondrodysplasia with Retinitis Pigmentosa 57 72
Rpska 57 72
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome 58
Retinitis Pigmentosa, with/without Skeletal Anomalies 39

Characteristics:

Orphanet epidemiological data:

58
brachydactyly-short stature-retinitis pigmentosa syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood,Infancy;

OMIM®:

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

Miscellaneous:
phenotypic variability among families


HPO:

31
retinitis pigmentosa with or without skeletal anomalies:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Rare bone diseases
Developmental anomalies during embryogenesis


Summaries for Retinitis Pigmentosa with or Without Skeletal Anomalies

UniProtKB/Swiss-Prot : 72 Retinitis pigmentosa with or without skeletal anomalies: An autosomal recessive disease characterized by retinal degeneration, brachydactyly, short stature, craniofacial dysmorphism, and neurologic defects. Retinal defects are consistent with retinitis pigmentosa in most patients. Neurologic manifestations include mild-to-moderate intellectual disability and psychomotor retardation.

MalaCards based summary : Retinitis Pigmentosa with or Without Skeletal Anomalies, is also known as metaphyseal chondrodysplasia with retinitis pigmentosa. An important gene associated with Retinitis Pigmentosa with or Without Skeletal Anomalies is CWC27 (CWC27 Spliceosome Associated Cyclophilin). Affiliated tissues include eye, kidney and heart, and related phenotypes are abnormal facial shape and short stature

More information from OMIM: 250410

Related Diseases for Retinitis Pigmentosa with or Without Skeletal Anomalies

Symptoms & Phenotypes for Retinitis Pigmentosa with or Without Skeletal Anomalies

Human phenotypes related to Retinitis Pigmentosa with or Without Skeletal Anomalies:

58 31 (show top 50) (show all 57)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormal facial shape 58 31 hallmark (90%) Very frequent (99-80%) HP:0001999
2 short stature 58 31 very rare (1%) Very frequent (99-80%) HP:0004322
3 brachydactyly 58 31 very rare (1%) Very frequent (99-80%) HP:0001156
4 retinal degeneration 58 31 very rare (1%) Very frequent (99-80%) HP:0000546
5 global developmental delay 58 31 very rare (1%) Frequent (79-30%) HP:0001263
6 delayed speech and language development 58 31 very rare (1%) Frequent (79-30%) HP:0000750
7 nyctalopia 58 31 frequent (33%) Frequent (79-30%) HP:0000662
8 rod-cone dystrophy 58 31 frequent (33%) Frequent (79-30%) HP:0000510
9 feeding difficulties 58 31 very rare (1%) Frequent (79-30%) HP:0011968
10 frontal bossing 58 31 occasional (7.5%) Occasional (29-5%) HP:0002007
11 inguinal hernia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000023
12 macrotia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000400
13 pes planus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001763
14 neonatal hypotonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001319
15 ichthyosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0008064
16 abnormal electroretinogram 58 31 occasional (7.5%) Occasional (29-5%) HP:0000512
17 cryptorchidism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000028
18 intrauterine growth retardation 58 31 occasional (7.5%) Occasional (29-5%) HP:0001511
19 micrognathia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000347
20 low-set ears 58 31 occasional (7.5%) Occasional (29-5%) HP:0000369
21 horseshoe kidney 58 31 very rare (1%) Occasional (29-5%) HP:0000085
22 alopecia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001596
23 cerebral cortical atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0002120
24 downslanted palpebral fissures 58 31 occasional (7.5%) Occasional (29-5%) HP:0000494
25 intellectual disability, moderate 58 31 occasional (7.5%) Occasional (29-5%) HP:0002342
26 ventricular septal defect 58 31 very rare (1%) Occasional (29-5%) HP:0001629
27 hallux valgus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001822
28 craniosynostosis 58 31 very rare (1%) Occasional (29-5%) HP:0001363
29 abnormality of the endocrine system 58 31 occasional (7.5%) Occasional (29-5%) HP:0000818
30 underdeveloped nasal alae 58 31 occasional (7.5%) Occasional (29-5%) HP:0000430
31 short metacarpal 58 31 occasional (7.5%) Occasional (29-5%) HP:0010049
32 absent eyelashes 58 31 occasional (7.5%) Occasional (29-5%) HP:0000561
33 delayed gross motor development 58 31 occasional (7.5%) Occasional (29-5%) HP:0002194
34 broad columella 58 31 occasional (7.5%) Occasional (29-5%) HP:0010761
35 cafe-au-lait spot 58 31 very rare (1%) Occasional (29-5%) HP:0000957
36 renal cyst 58 31 very rare (1%) Occasional (29-5%) HP:0000107
37 visual field defect 58 31 occasional (7.5%) Occasional (29-5%) HP:0001123
38 small nail 58 31 occasional (7.5%) Occasional (29-5%) HP:0001792
39 absent eyebrow 58 31 occasional (7.5%) Occasional (29-5%) HP:0002223
40 metaphyseal chondrodysplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0005871
41 abnormal vena cava morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0005345
42 heart murmur 58 31 occasional (7.5%) Occasional (29-5%) HP:0030148
43 arnold-chiari type i malformation 58 31 occasional (7.5%) Occasional (29-5%) HP:0007099
44 abnormality of pattern visual evoked potentials 58 31 occasional (7.5%) Occasional (29-5%) HP:0030455
45 intellectual disability 58 31 very rare (1%) Frequent (79-30%) HP:0001249
46 macrocephaly 31 very rare (1%) HP:0000256
47 sparse hair 31 very rare (1%) HP:0008070
48 psychomotor retardation 31 very rare (1%) HP:0025356
49 sparse eyebrow 31 very rare (1%) HP:0045075
50 sparse eyelashes 31 very rare (1%) HP:0000653

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Face:
frontal bossing
micrognathia

Head And Neck Ears:
low-set ears
large ears

Skeletal Feet:
brachydactyly

Head And Neck Eyes:
downslanting palpebral fissures
retinitis pigmentosa
constriction of visual fields
thinning of retinal vessels
salt and pepper pigment changes

Skin Nails Hair Nails:
hypoplastic nails (in some patients)

Skeletal Skull:
macrocephaly (in some patients)
craniosynostosis (in 1 patient)

Cardiovascular Vascular:
bilateral superior vena cava (in 1 patient)

Genitourinary Bladder:
bladder cyst (in 1 patient)

Growth Height:
short stature

Skeletal Hands:
brachydactyly
shortening of distal phalanges

Neurologic Central Nervous System:
feeding difficulties
psychomotor retardation
speech delay
intellectual disability, mild to moderate
walking delay

Head And Neck Nose:
hypoplastic nares
large columella

Head And Neck Head:
macrocephaly (in some patients)
craniosynostosis (in 1 patient)

Cardiovascular Heart:
ventricular septal defects (in 1 patient)

Genitourinary Kidneys:
renal cysts (in 1 patient)
horseshoe kidney (in 1 patient)

Clinical features from OMIM®:

250410 (Updated 05-Apr-2021)

Drugs & Therapeutics for Retinitis Pigmentosa with or Without Skeletal Anomalies

Search Clinical Trials , NIH Clinical Center for Retinitis Pigmentosa with or Without Skeletal Anomalies

Genetic Tests for Retinitis Pigmentosa with or Without Skeletal Anomalies

Genetic tests related to Retinitis Pigmentosa with or Without Skeletal Anomalies:

# Genetic test Affiliating Genes
1 Retinitis Pigmentosa with or Without Skeletal Anomalies 29 CWC27

Anatomical Context for Retinitis Pigmentosa with or Without Skeletal Anomalies

MalaCards organs/tissues related to Retinitis Pigmentosa with or Without Skeletal Anomalies:

40
Eye, Kidney, Heart

Publications for Retinitis Pigmentosa with or Without Skeletal Anomalies

Articles related to Retinitis Pigmentosa with or Without Skeletal Anomalies:

# Title Authors PMID Year
1
Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies. 57 6
28285769 2017
2
Retinitis pigmentosa, mental retardation, marked short stature, and brachydactyly in two sibs. 6 57
10420199 1999
3
Retinitis pigmentosa, metaphyseal chondrodysplasia, and brachydactyly: an affected brother and sister. 57
7252997 1981

Variations for Retinitis Pigmentosa with or Without Skeletal Anomalies

ClinVar genetic disease variations for Retinitis Pigmentosa with or Without Skeletal Anomalies:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CWC27 NM_005869.4(CWC27):c.943G>T (p.Glu315Ter) SNV Pathogenic 426072 rs1085307447 GRCh37: 5:64181274-64181274
GRCh38: 5:64885447-64885447
2 CWC27 NM_005869.4(CWC27):c.495G>A (p.Glu165=) SNV Pathogenic 426071 rs1085307446 GRCh37: 5:64081406-64081406
GRCh38: 5:64785579-64785579
3 CWC27 NM_005869.4(CWC27):c.617C>A (p.Ser206Ter) SNV Pathogenic 426074 rs781702398 GRCh37: 5:64084795-64084795
GRCh38: 5:64788968-64788968
4 CWC27 NM_005869.4(CWC27):c.1002dup (p.Val335fs) Duplication Pathogenic 426073 rs752159903 GRCh37: 5:64181325-64181326
GRCh38: 5:64885498-64885499

Expression for Retinitis Pigmentosa with or Without Skeletal Anomalies

Search GEO for disease gene expression data for Retinitis Pigmentosa with or Without Skeletal Anomalies.

Pathways for Retinitis Pigmentosa with or Without Skeletal Anomalies

GO Terms for Retinitis Pigmentosa with or Without Skeletal Anomalies

Sources for Retinitis Pigmentosa with or Without Skeletal Anomalies

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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