MCID: RTN194
MIFTS: 21

Retinitis Pigmentosa with or Without Skeletal Anomalies

Categories: Genetic diseases, Neuronal diseases, Eye diseases, Bone diseases, Fetal 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 75 6
Metaphyseal Chondrodysplasia with Retinitis Pigmentosa 57 75
Rpska 57 75
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome 59
Retinitis Pigmentosa, with/without Skeletal Anomalies 40

Characteristics:

Orphanet epidemiological data:

59
brachydactyly-short stature-retinitis pigmentosa syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood,Infancy;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
phenotypic variability among families


HPO:

32
retinitis pigmentosa with or without skeletal anomalies:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Retinitis Pigmentosa with or Without Skeletal Anomalies

UniProtKB/Swiss-Prot : 75 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 Protein Homolog). Affiliated tissues include kidney, bone and eye, and related phenotypes are macrocephaly and low-set ears

Description from OMIM: 250410

Related Diseases for Retinitis Pigmentosa with or Without Skeletal Anomalies

Symptoms & Phenotypes for Retinitis Pigmentosa with or Without Skeletal Anomalies

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Ears:
low-set ears
large ears

Growth Height:
short stature

Skeletal Hands:
brachydactyly
shortening of distal phalanges

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)

Head And Neck Face:
frontal bossing
micrognathia

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

Skeletal Feet:
brachydactyly

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

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

32 (show all 22)
# Description HPO Frequency HPO Source Accession
1 macrocephaly 32 occasional (7.5%) HP:0000256
2 low-set ears 32 HP:0000369
3 frontal bossing 32 HP:0002007
4 intellectual disability 32 HP:0001249
5 macrotia 32 HP:0000400
6 global developmental delay 32 HP:0001263
7 delayed speech and language development 32 HP:0000750
8 short stature 32 HP:0004322
9 micrognathia 32 HP:0000347
10 feeding difficulties 32 HP:0011968
11 horseshoe kidney 32 HP:0000085
12 underdeveloped nasal alae 32 HP:0000430
13 metaphyseal chondrodysplasia 32 HP:0005871
14 small nail 32 occasional (7.5%) HP:0001792
15 downslanted palpebral fissures 32 HP:0000494
16 brachydactyly 32 HP:0001156
17 ventricular septal defect 32 HP:0001629
18 craniosynostosis 32 HP:0001363
19 short distal phalanx of finger 32 HP:0009882
20 short metacarpal 32 HP:0010049
21 rod-cone dystrophy 32 HP:0000510
22 renal cyst 32 HP:0000107

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

Anatomical Context for Retinitis Pigmentosa with or Without Skeletal Anomalies

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

41
Kidney, Bone, Eye

Publications for Retinitis Pigmentosa with or Without Skeletal Anomalies

Variations for Retinitis Pigmentosa with or Without Skeletal Anomalies

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CWC27 NM_005869.3(CWC27): c.495G> A (p.Glu165=) single nucleotide variant Pathogenic rs1085307446 GRCh37 Chromosome 5, 64081406: 64081406
2 CWC27 NM_005869.3(CWC27): c.495G> A (p.Glu165=) single nucleotide variant Pathogenic rs1085307446 GRCh38 Chromosome 5, 64785579: 64785579
3 CWC27 NM_005869.3(CWC27): c.943G> T (p.Glu315Ter) single nucleotide variant Pathogenic rs1085307447 GRCh38 Chromosome 5, 64885447: 64885447
4 CWC27 NM_005869.3(CWC27): c.943G> T (p.Glu315Ter) single nucleotide variant Pathogenic rs1085307447 GRCh37 Chromosome 5, 64181274: 64181274
5 CWC27 NM_005869.3(CWC27): c.1002dup (p.Val335Serfs) duplication Pathogenic rs1085307448 GRCh37 Chromosome 5, 64181333: 64181333
6 CWC27 NM_005869.3(CWC27): c.1002dup (p.Val335Serfs) duplication Pathogenic rs1085307448 GRCh38 Chromosome 5, 64885506: 64885506
7 CWC27 NM_005869.3(CWC27): c.617C> A (p.Ser206Ter) single nucleotide variant Pathogenic rs781702398 GRCh38 Chromosome 5, 64788968: 64788968
8 CWC27 NM_005869.3(CWC27): c.617C> A (p.Ser206Ter) single nucleotide variant Pathogenic rs781702398 GRCh37 Chromosome 5, 64084795: 64084795

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 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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