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 57 12 53 75 29 13 6 15 73
Rp35 57 12 75
Retinitis Pigmentosa, Type 35 40
Rp 35 53

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant
autosomal recessive

Miscellaneous:
allelic with cone-rod dystrophy 10


HPO:

32

Classifications:



External Ids:

OMIM 57 610282
Disease Ontology 12 DOID:0110357
ICD10 33 H35.5
MedGen 42 C1853214
MeSH 44 D012174
UMLS 73 C1853214

Summaries for Retinitis Pigmentosa 35

UniProtKB/Swiss-Prot : 75 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. 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 rod-cone dystrophy and cone/cone-rod dystrophy

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 9.8 CD79A SH2B3
3 salpingitis isthmica nodosa 9.8 CD79A HSPA4
4 chronic salpingitis 9.8 CD79A HSPA4
5 cogan syndrome 9.7 CD79A HSPA4
6 parasitic protozoa infectious disease 9.6 CD79A HSPA4
7 celiac disease 1 9.5 CD79A SH2B3
8 small cell cancer of the lung 9.0 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:

57
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:

32
# Description HPO Frequency HPO Source Accession
1 rod-cone dystrophy 32 HP:0000510
2 cone/cone-rod dystrophy 32 HP:0000548
3 blindness 32 HP:0000618
4 nyctalopia 32 HP:0000662
5 abnormality of skin pigmentation 32 HP:0001000

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00381-A-1 9.43 CD79A GRP
2 Decreased viability GR00381-A-3 9.43 CD79A GRP
3 Decreased viability GR00402-S-2 9.43 CD79A GRP
4 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 29 SEMA4A

Anatomical Context for Retinitis Pigmentosa 35

MalaCards organs/tissues related to Retinitis Pigmentosa 35:

41
Skin, Bone, Eye

Publications for Retinitis Pigmentosa 35

Variations for Retinitis Pigmentosa 35

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

75
# 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

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
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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