MCID: RTN064
MIFTS: 28

Retinitis Pigmentosa 35

Categories: Genetic diseases, Rare diseases, Eye diseases

Aliases & Classifications for Retinitis Pigmentosa 35

MalaCards integrated aliases for Retinitis Pigmentosa 35:

Name: Retinitis Pigmentosa 35 53 12 49 71 28 13 14 69
Rp35 53 12 71
Rp 35 49

Characteristics:

OMIM:

53
Inheritance:
autosomal dominant
autosomal recessive

Miscellaneous:
allelic with cone-rod dystrophy 10


HPO:

31

Classifications:



External Ids:

OMIM 53 610282
Disease Ontology 12 DOID:0110357
ICD10 32 H35.5
MedGen 39 C1853214
MeSH 41 D012174
UMLS 69 C1853214

Summaries for Retinitis Pigmentosa 35

UniProtKB/Swiss-Prot : 71 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 autoimmune disease of gastrointestinal tract, and has symptoms including blindness, nyctalopia and abnormality of skin pigmentation. An important gene associated with Retinitis Pigmentosa 35 is SEMA4A (Semaphorin 4A), and among its related pathways/superpathways is Hematopoietic Stem Cell Differentiation Pathways and Lineage-specific Markers. Affiliated tissues include skin, bone and eye, and related phenotypes are Decreased viability and Decreased viability

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 Nonsyndromic Retinitis Pigmentosa

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

# Related Disease Score Top Affiliating Genes
1 retinitis pigmentosa 10.9
2 autoimmune disease of gastrointestinal tract 9.9 CD79A SH2B3
3 salpingitis isthmica nodosa 9.9 CD79A HSPA4
4 chronic salpingitis 9.8 CD79A HSPA4
5 cogan syndrome 9.8 CD79A HSPA4
6 parasitic protozoa infectious disease 9.7 CD79A HSPA4
7 celiac disease 1 9.6 CD79A SH2B3
8 small cell cancer of the lung 9.5 GRP MYCL

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



Diseases related to Retinitis Pigmentosa 35

Symptoms & Phenotypes for Retinitis Pigmentosa 35

Symptoms via clinical synopsis from OMIM:

53
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

Human phenotypes related to Retinitis Pigmentosa 35:

31
# Description HPO Frequency HPO Source Accession
1 blindness 31 HP:0000618
2 nyctalopia 31 HP:0000662
3 abnormality of skin pigmentation 31 HP:0001000
4 rod-cone dystrophy 31 HP:0000510
5 cone/cone-rod dystrophy 31 HP:0000548

GenomeRNAi Phenotypes related to Retinitis Pigmentosa 35 according to GeneCards Suite gene sharing:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00381-A-1 9.26 CD79A GRP
2 Decreased viability GR00381-A-3 9.26 CD79A GRP
3 Increased viability GR00386-A-1 9.1 CD79A GRP HSPA4 MYCL POLD3 SH2B3

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 28 SEMA4A

Anatomical Context for Retinitis Pigmentosa 35

MalaCards organs/tissues related to Retinitis Pigmentosa 35:

38
Skin, Bone, Eye

Publications for Retinitis Pigmentosa 35

Variations for Retinitis Pigmentosa 35

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

71
# 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.1049T> G (p.Phe350Cys) single nucleotide variant Pathogenic rs267607034 GRCh37 Chromosome 1, 156132800: 156132800

Expression for Retinitis Pigmentosa 35

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

Pathways for Retinitis Pigmentosa 35

Pathways related to Retinitis Pigmentosa 35 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.69 CD79A SH2B3

GO Terms for Retinitis Pigmentosa 35

Sources for Retinitis Pigmentosa 35

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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