RP35
MCID: RTN064
MIFTS: 31

Retinitis Pigmentosa 35 (RP35)

Categories: Eye diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Retinitis Pigmentosa 35

MalaCards integrated aliases for Retinitis Pigmentosa 35:

Name: Retinitis Pigmentosa 35 58 12 54 76 30 13 6 15 74
Rp35 58 12 76
Retinitis Pigmentosa, Type 35 41
Rp 35 54

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive
autosomal dominant

Miscellaneous:
allelic with cone-rod dystrophy 10


HPO:

33

Classifications:



External Ids:

Disease Ontology 12 DOID:0110357
OMIM 58 610282
MeSH 45 D012174
ICD10 34 H35.5
MedGen 43 C1853214
UMLS 74 C1853214

Summaries for Retinitis Pigmentosa 35

UniProtKB/Swiss-Prot : 76 Retinitis pigmentosa 35: A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well.

MalaCards based summary : Retinitis Pigmentosa 35, also known as rp35, is related to retinitis pigmentosa and giant congenital nevus. An important gene associated with Retinitis Pigmentosa 35 is SEMA4A (Semaphorin 4A), and among its related pathways/superpathways are T cell receptor signaling pathway and Human T-cell leukemia virus 1 infection. Affiliated tissues include skin, bone and eye, and related phenotypes are blindness and nyctalopia

Disease Ontology : 12 A retinitis pigmentosa that has material basis in mutation in the SEMA4A gene on chromosome 1q22.

Description from OMIM: 610282

Related Diseases for Retinitis Pigmentosa 35

Diseases in the Retinitis Pigmentosa family:

Retinitis Pigmentosa 1 Retinitis Pigmentosa 9
Retinitis Pigmentosa 10 Retinitis Pigmentosa, Late-Adult Onset
Retinitis Pigmentosa 3 Retinitis Pigmentosa 24
Retinitis Pigmentosa 23 Retinitis Pigmentosa 34
Retinitis Pigmentosa 2 Retinitis Pigmentosa 6
Retinitis Pigmentosa 13 Retinitis Pigmentosa 12
Retinitis Pigmentosa 14 Retinitis Pigmentosa 11
Retinitis Pigmentosa 17 Retinitis Pigmentosa 18
Retinitis Pigmentosa 19 Retinitis Pigmentosa 22
Retinitis Pigmentosa 25 Retinitis Pigmentosa 28
Retinitis Pigmentosa 30 Retinitis Pigmentosa 7
Retinitis Pigmentosa 26 Retinitis Pigmentosa 32
Retinitis Pigmentosa 31 Retinitis Pigmentosa 35
Retinitis Pigmentosa 33 Retinitis Pigmentosa 36
Retinitis Pigmentosa 37 Retinitis Pigmentosa 41
Retinitis Pigmentosa 29 Retinitis Pigmentosa 46
Retinitis Pigmentosa 42 Retinitis Pigmentosa 50
Retinitis Pigmentosa 54 Retinitis Pigmentosa 51
Retinitis Pigmentosa 55 Retinitis Pigmentosa 56
Retinitis Pigmentosa 57 Retinitis Pigmentosa 58
Retinitis Pigmentosa 4 Retinitis Pigmentosa 27
Retinitis Pigmentosa 49 Retinitis Pigmentosa 47
Retinitis Pigmentosa 45 Retinitis Pigmentosa 44
Retinitis Pigmentosa 20 Retinitis Pigmentosa 40
Retinitis Pigmentosa 39 Retinitis Pigmentosa 43
Retinitis Pigmentosa 48 Retinitis Pigmentosa 59
Retinitis Pigmentosa 38 Retinitis Pigmentosa 60
Retinitis Pigmentosa 61 Retinitis Pigmentosa 62
Retinitis Pigmentosa 63 Retinitis Pigmentosa 66
Retinitis Pigmentosa 67 Retinitis Pigmentosa 68
Retinitis Pigmentosa 69 Retinitis Pigmentosa 70
Retinitis Pigmentosa 71 Retinitis Pigmentosa 72
Retinitis Pigmentosa 73 Retinitis Pigmentosa 74
Retinitis Pigmentosa 75 Retinitis Pigmentosa 76
Retinitis Pigmentosa 77 Retinitis Pigmentosa 78
Retinitis Pigmentosa 79 Retinitis Pigmentosa 80
Retinitis Pigmentosa 81 Retinitis Pigmentosa 83
Retinitis Pigmentosa 84 Retinitis Pigmentosa 85
Nonsyndromic Retinitis Pigmentosa

Diseases related to Retinitis Pigmentosa 35 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 25)
# Related Disease Score Top Affiliating Genes
1 retinitis pigmentosa 11.1
2 giant congenital nevus 10.0 HRAS NRAS
3 benign struma ovarii 10.0 HRAS NRAS
4 schimmelpenning-feuerstein-mims syndrome 10.0 HRAS NRAS
5 ovarian melanoma 10.0 HRAS NRAS
6 malignant conjunctival melanoma 10.0 HRAS NRAS
7 melanomatosis 10.0 HRAS NRAS
8 marcus gunn phenomenon 10.0 HRAS NRAS
9 malignant struma ovarii 10.0 HRAS NRAS
10 nodular malignant melanoma 10.0 HRAS NRAS
11 fetal adenoma 10.0 HRAS NRAS
12 myelodysplastic myeloproliferative cancer 10.0 HRAS NRAS
13 meningeal melanomatosis 10.0 HRAS NRAS
14 melanocytic nevus syndrome, congenital 9.9 HRAS NRAS
15 acneiform dermatitis 9.9 HRAS NRAS
16 vulvar melanoma 9.9 HRAS NRAS
17 malignant skin fibrous histiocytoma 9.9 HRAS NRAS
18 core binding factor acute myeloid leukemia 9.9 HRAS NRAS
19 liver angiosarcoma 9.9 HRAS NRAS
20 malignant dermis tumor 9.9 HRAS NRAS
21 central nervous system melanocytic neoplasm 9.8 HRAS NRAS
22 leukemia, chronic myeloid 9.6 HRAS HSPA4 NRAS
23 nevus, epidermal 9.6 HRAS NRAS
24 lung benign neoplasm 9.6 GRP HRAS
25 nasopharyngeal carcinoma 9.4 HRAS HSPA4 NRAS

Graphical network of the top 20 diseases related to Retinitis Pigmentosa 35:



Diseases related to Retinitis Pigmentosa 35

Symptoms & Phenotypes for Retinitis Pigmentosa 35

Human phenotypes related to Retinitis Pigmentosa 35:

33
# Description HPO Frequency HPO Source Accession
1 blindness 33 HP:0000618
2 nyctalopia 33 HP:0000662
3 rod-cone dystrophy 33 HP:0000510
4 abnormality of skin pigmentation 33 HP:0001000
5 cone/cone-rod dystrophy 33 HP:0000548

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
night blindness followed by complete blindness
bone corpuscle-like pigmentation in equatorial and peripheral areas
attenuated blood vessels in periphery
macula clear in early stages

Clinical features from OMIM:

610282

Drugs & Therapeutics for Retinitis Pigmentosa 35

Search Clinical Trials , NIH Clinical Center for Retinitis Pigmentosa 35

Genetic Tests for Retinitis Pigmentosa 35

Genetic tests related to Retinitis Pigmentosa 35:

# Genetic test Affiliating Genes
1 Retinitis Pigmentosa 35 30 SEMA4A

Anatomical Context for Retinitis Pigmentosa 35

MalaCards organs/tissues related to Retinitis Pigmentosa 35:

42
Skin, Bone, Eye, Myeloid

Publications for Retinitis Pigmentosa 35

Articles related to Retinitis Pigmentosa 35:

# Title Authors Year
1
Identification of novel mutations in the SEMA4A gene associated with retinal degenerative diseases. ( 16199541 )
2006

Variations for Retinitis Pigmentosa 35

UniProtKB/Swiss-Prot genetic disease variations for Retinitis Pigmentosa 35:

76
# Symbol AA change Variation ID SNP ID
1 SEMA4A p.Asp345His VAR_028322 rs267607033
2 SEMA4A p.Phe350Cys VAR_028323 rs267607034

ClinVar genetic disease variations for Retinitis Pigmentosa 35:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SEMA4A NM_001193301.1(SEMA4A): c.1033G> C (p.Asp345His) single nucleotide variant Pathogenic rs267607033 GRCh37 Chromosome 1, 156132784: 156132784
2 SEMA4A NM_001193301.1(SEMA4A): c.1033G> C (p.Asp345His) single nucleotide variant Pathogenic rs267607033 GRCh38 Chromosome 1, 156162993: 156162993
3 SEMA4A NM_001193301.1(SEMA4A): c.1049T> G (p.Phe350Cys) single nucleotide variant Pathogenic rs267607034 GRCh37 Chromosome 1, 156132800: 156132800
4 SEMA4A NM_001193301.1(SEMA4A): c.1049T> G (p.Phe350Cys) single nucleotide variant Pathogenic rs267607034 GRCh38 Chromosome 1, 156163009: 156163009
5 SEMA4A NM_022367.3(SEMA4A): c.2138G> A (p.Arg713Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs41265017 GRCh37 Chromosome 1, 156146640: 156146640
6 SEMA4A NM_022367.3(SEMA4A): c.2138G> A (p.Arg713Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs41265017 GRCh38 Chromosome 1, 156176849: 156176849

Expression for Retinitis Pigmentosa 35

Search GEO for disease gene expression data for Retinitis Pigmentosa 35.

Pathways for Retinitis Pigmentosa 35

GO Terms for Retinitis Pigmentosa 35

Sources for Retinitis Pigmentosa 35

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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