IDDRP
MCID: INT334
MIFTS: 20

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 57 72 6 39
Iddrp 57 72

Characteristics:

OMIM®:

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

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


HPO:

31
intellectual developmental disorder and retinitis pigmentosa:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Intellectual Developmental Disorder and Retinitis Pigmentosa

OMIM® : 57 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) (Updated 05-Apr-2021)

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, and related phenotypes are cataract and abnormal flash visual evoked potentials

UniProtKB/Swiss-Prot : 72 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

Human phenotypes related to Intellectual Developmental Disorder and Retinitis Pigmentosa:

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 cataract 31 very rare (1%) HP:0000518
2 abnormal flash visual evoked potentials 31 very rare (1%) HP:0007928
3 intellectual disability 31 HP:0001249
4 reduced visual acuity 31 HP:0007663
5 macular degeneration 31 HP:0000608
6 peripapillary atrophy 31 HP:0500087

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Eyes:
reduced visual acuity
optic disc pallor
macular degeneration
peripapillary atrophy
cataract (in some patients)
more
Neurologic Behavioral Psychiatric Manifestations:
attention-deficit/hyperactivity disorder

Neurologic Central Nervous System:
intellectual disability, mild to moderate

Clinical features from OMIM®:

618195 (Updated 05-Apr-2021)

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:

40
Bone

Publications for Intellectual Developmental Disorder and Retinitis Pigmentosa

Articles related to Intellectual Developmental Disorder and Retinitis Pigmentosa:

# Title Authors PMID Year
1
Mutations in SCAPER cause autosomal recessive retinitis pigmentosa with intellectual disability. 6 57
28794130 2017
2
First-line exome sequencing in Palestinian and Israeli Arabs with neurological disorders is efficient and facilitates disease gene discovery. 6
32214227 2020

Variations for Intellectual Developmental Disorder and Retinitis Pigmentosa

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

6 (show all 15)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SCAPER NM_020843.4(SCAPER):c.2023-2A>G SNV Pathogenic 424861 rs1555558169 GRCh37: 15:77021080-77021080
GRCh38: 15:76728739-76728739
2 SCAPER NM_020843.3(SCAPER):c.2973_2976del (p.Ile991Metfs) Microsatellite Pathogenic 417685 rs1555447569 GRCh37: 15:76763655-76763658
GRCh38: 15:76471314-76471317
3 SCAPER NM_020843.3(SCAPER):c.1859_1861del (p.Glu620del) Microsatellite Pathogenic 427856 rs1395475624 GRCh37: 15:77046154-77046156
GRCh38: 15:76753813-76753815
4 SCAPER NM_020843.4(SCAPER):c.3656G>A (p.Ser1219Asn) SNV Pathogenic 427855 rs1305542291 GRCh37: 15:76673768-76673768
GRCh38: 15:76381427-76381427
5 SCAPER NM_020843.4(SCAPER):c.2236dup (p.Ile746fs) Duplication Likely pathogenic 800544 rs1462082548 GRCh37: 15:76998254-76998255
GRCh38: 15:76705913-76705914
6 SCAPER NM_020843.4(SCAPER):c.2179C>T (p.Arg727Ter) SNV Likely pathogenic 800545 rs978336151 GRCh37: 15:76998312-76998312
GRCh38: 15:76705971-76705971
7 SCAPER NM_020843.4(SCAPER):c.1116del (p.Val373fs) Deletion Likely pathogenic 800546 rs1598632432 GRCh37: 15:77064215-77064215
GRCh38: 15:76771874-76771874
8 SCAPER NM_020843.4(SCAPER):c.1495+1G>A SNV Likely pathogenic 800547 rs1598598205 GRCh37: 15:77057903-77057903
GRCh38: 15:76765562-76765562
9 SCAPER NM_020843.4(SCAPER):c.3224del (p.Pro1075fs) Deletion Likely pathogenic 800548 rs1596596355 GRCh37: 15:76726506-76726506
GRCh38: 15:76434165-76434165
10 SCAPER NM_020843.4(SCAPER):c.829C>T (p.Arg277Ter) SNV Likely pathogenic 800549 rs1484749107 GRCh37: 15:77067402-77067402
GRCh38: 15:76775061-76775061
11 SCAPER NM_020843.4(SCAPER):c.3707_3708del (p.Ser1236fs) Deletion Likely pathogenic 800550 rs1303625185 GRCh37: 15:76668650-76668651
GRCh38: 15:76376309-76376310
12 SCAPER NM_020843.4(SCAPER):c.2166-3C>G SNV Likely pathogenic 800551 rs1598279469 GRCh37: 15:76998328-76998328
GRCh38: 15:76705987-76705987
13 SCAPER NM_020843.4(SCAPER):c.2653del (p.Glu885fs) Deletion Likely pathogenic 829945 rs1597752941 GRCh37: 15:76914163-76914163
GRCh38: 15:76621822-76621822
14 SCAPER NM_020843.4(SCAPER):c.1081C>T (p.Arg361Ter) SNV Likely pathogenic 829946 rs777893794 GRCh37: 15:77064250-77064250
GRCh38: 15:76771909-76771909
15 SCAPER NM_020843.4(SCAPER):c.2377C>T (p.Gln793Ter) SNV Likely pathogenic 620525 rs1239725461 GRCh37: 15:76995214-76995214
GRCh38: 15:76702873-76702873

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
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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