IDDRP
MCID: INT334
MIFTS: 13

Intellectual Developmental Disorder and Retinitis Pigmentosa (IDDRP)

Categories: Eye diseases, Genetic diseases

Aliases & Classifications for Intellectual Developmental Disorder and Retinitis Pigmentosa

MalaCards integrated aliases for Intellectual Developmental Disorder and Retinitis Pigmentosa:

Name: Intellectual Developmental Disorder and Retinitis Pigmentosa 58 76 6
Iddrp 58 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset of retinitis pigmentosa in the second and third decades of life


Classifications:



External Ids:

OMIM 58 618195

Summaries for Intellectual Developmental Disorder and Retinitis Pigmentosa

OMIM : 58 Intellectual developmental disorder and retinitis pigmentosa is characterized by mild to moderate intellectual disability and typical features of RP. Patients experience reduced night vision, constriction of visual fields, and reduced visual acuity; optic disc pallor, attenuated retinal blood vessels, and bone-spicule pigmentation are seen on funduscopy. Attention-deficit/hyperactivity disorder is observed in some patients (Tatour et al., 2017). (618195)

MalaCards based summary : Intellectual Developmental Disorder and Retinitis Pigmentosa, is also known as iddrp. An important gene associated with Intellectual Developmental Disorder and Retinitis Pigmentosa is SCAPER (S-Phase Cyclin A Associated Protein In The ER). Affiliated tissues include bone.

UniProtKB/Swiss-Prot : 76 Intellectual developmental disorder and retinitis pigmentosa: An autosomal recessive disease characterized by mild to moderate intellectual disability, retinitis pigmentosa, and attention-deficit hyperactivity disorder observed in some patients.

Related Diseases for Intellectual Developmental Disorder and Retinitis Pigmentosa

Symptoms & Phenotypes for Intellectual Developmental Disorder and Retinitis Pigmentosa

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
reduced visual acuity
macular degeneration
optic disc pallor
cataract (in some patients)
attenuated retinal vessels
more
Neurologic Behavioral Psychiatric Manifestations:
attention-deficit/hyperactivity disorder

Neurologic Central Nervous System:
intellectual disability, mild to moderate

Clinical features from OMIM:

618195

Drugs & Therapeutics for Intellectual Developmental Disorder and Retinitis Pigmentosa

Search Clinical Trials , NIH Clinical Center for Intellectual Developmental Disorder and Retinitis Pigmentosa

Genetic Tests for Intellectual Developmental Disorder and Retinitis Pigmentosa

Anatomical Context for Intellectual Developmental Disorder and Retinitis Pigmentosa

MalaCards organs/tissues related to Intellectual Developmental Disorder and Retinitis Pigmentosa:

42
Bone

Publications for Intellectual Developmental Disorder and Retinitis Pigmentosa

Variations for Intellectual Developmental Disorder and Retinitis Pigmentosa

ClinVar genetic disease variations for Intellectual Developmental Disorder and Retinitis Pigmentosa:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SCAPER NM_020843.3(SCAPER): c.2973_2976del (p.Ile991Metfs) deletion Pathogenic rs1555447569 GRCh38 Chromosome 15, 76471314: 76471317
2 SCAPER NM_020843.3(SCAPER): c.2973_2976del (p.Ile991Metfs) deletion Pathogenic rs1555447569 GRCh37 Chromosome 15, 76763655: 76763658
3 SCAPER NM_020843.3(SCAPER): c.2023-2A> G single nucleotide variant Pathogenic rs1555558169 GRCh37 Chromosome 15, 77021080: 77021080
4 SCAPER NM_020843.3(SCAPER): c.2023-2A> G single nucleotide variant Pathogenic rs1555558169 GRCh38 Chromosome 15, 76728739: 76728739
5 SCAPER NM_020843.4(SCAPER): c.3656G> A (p.Ser1219Asn) single nucleotide variant Pathogenic/Likely pathogenic rs1305542291 GRCh37 Chromosome 15, 76673768: 76673768
6 SCAPER NM_020843.4(SCAPER): c.3656G> A (p.Ser1219Asn) single nucleotide variant Pathogenic/Likely pathogenic rs1305542291 GRCh38 Chromosome 15, 76381427: 76381427
7 SCAPER NM_020843.3(SCAPER): c.1859_1861del (p.Glu620del) deletion Pathogenic/Likely pathogenic rs1395475624 GRCh38 Chromosome 15, 76753813: 76753815
8 SCAPER NM_020843.3(SCAPER): c.1859_1861del (p.Glu620del) deletion Pathogenic/Likely pathogenic rs1395475624 GRCh37 Chromosome 15, 77046154: 77046156

Expression for Intellectual Developmental Disorder and Retinitis Pigmentosa

Search GEO for disease gene expression data for Intellectual Developmental Disorder and Retinitis Pigmentosa.

Pathways for Intellectual Developmental Disorder and Retinitis Pigmentosa

GO Terms for Intellectual Developmental Disorder and Retinitis Pigmentosa

Sources for Intellectual Developmental Disorder and Retinitis Pigmentosa

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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