MCID: RTN171
MIFTS: 30

Retinitis Pigmentosa 59

Categories: Genetic diseases, Rare diseases, Eye diseases

Aliases & Classifications for Retinitis Pigmentosa 59

MalaCards integrated aliases for Retinitis Pigmentosa 59:

Name: Retinitis Pigmentosa 59 53 12 71 28 13 14 69
Rp59 53 12 71
Congenital Disorder of Glycosylation, Type 1bb 53

Characteristics:

OMIM:

53
Inheritance:
autosomal recessive

Miscellaneous:
one infant (patient a) with fatal cdg type i has been reported (last curated january 2018)


HPO:

31
retinitis pigmentosa 59:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 53 613861
Disease Ontology 12 DOID:0110352
ICD10 32 H35.5
MedGen 39 C3151227
MeSH 41 D012174
SNOMED-CT via HPO 65 258211005 28835009 193387007
UMLS 69 C3151227

Summaries for Retinitis Pigmentosa 59

UniProtKB/Swiss-Prot : 71 Retinitis pigmentosa 59: 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 59, also known as rp59, is related to amelogenesis imperfecta, hypoplastic/hypomaturation, x-linked 2 and enamel caries, and has symptoms including rod-cone dystrophy and cystoid macular edema. An important gene associated with Retinitis Pigmentosa 59 is DHDDS (Dehydrodolichyl Diphosphate Synthase Subunit). Affiliated tissues include liver, bone and eye.

Disease Ontology : 12 A retinitis pigmentosa that has material basis in mutation in the DHDDS gene on chromosome 1p36.11.

Description from OMIM: 613861

Related Diseases for Retinitis Pigmentosa 59

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 59 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 amelogenesis imperfecta, hypoplastic/hypomaturation, x-linked 2 9.9 AMELX AMELY
2 enamel caries 9.9 AMELX AMELY
3 epulis 9.9 AMELX AMELY
4 freemartinism 9.9 AMELX AMELY
5 amelogenesis imperfecta, type ie 9.8 AMELX AMELY
6 dental pulp necrosis 9.8 AMELX AMELY
7 peptic ulcer perforation 9.8 AMELX AMELY
8 teeth hard tissue disease 9.7 AMELX AMELY
9 skeletal tuberculosis 9.7 AMELX AMELY
10 amelogenesis imperfecta 9.5 AMELX AMELY

Graphical network of the top 20 diseases related to Retinitis Pigmentosa 59:



Diseases related to Retinitis Pigmentosa 59

Symptoms & Phenotypes for Retinitis Pigmentosa 59

Symptoms via clinical synopsis from OMIM:

53
Genitourinary External Genitalia Male:
micropenis (patient a)
cryptorchidism (patient a)

Head And Neck Eyes:
cystoid macular edema (in some patients)
bone spicule-like pigmentation
visual acuity ranges from 20/20 to light perception only
impaired night vision
reduced peripheral vision (early)
more
Head And Neck Ears:
sensorineural deafness (patient a)

Abdomen Gastroin testinal:
poor feeding (patient a)

Muscle Soft Tissue:
axial hypotonia (patient a)

Neurologic Central Nervous System:
seizures (patient a)
spasticity (patient a)

Growth Other:
intrauterine growth retardation (patient a)
failure to thrive (patient a)

Abdomen Liver:
enlarged liver (patient a)
elevated liver enzymes (patient a)

Genitourinary Kidneys:
renal failure (patient a)

Laboratory Abnormalities:
hypoglycosylation of plasma proteins (patient a)
increased levels of shortened plasma and urinary dolichols


Clinical features from OMIM:

613861

Human phenotypes related to Retinitis Pigmentosa 59:

31
# Description HPO Frequency HPO Source Accession
1 rod-cone dystrophy 31 HP:0000510
2 cystoid macular edema 31 occasional (7.5%) HP:0011505

Drugs & Therapeutics for Retinitis Pigmentosa 59

Search Clinical Trials , NIH Clinical Center for Retinitis Pigmentosa 59

Genetic Tests for Retinitis Pigmentosa 59

Genetic tests related to Retinitis Pigmentosa 59:

# Genetic test Affiliating Genes
1 Retinitis Pigmentosa 59 28 DHDDS

Anatomical Context for Retinitis Pigmentosa 59

MalaCards organs/tissues related to Retinitis Pigmentosa 59:

38
Liver, Bone, Eye

Publications for Retinitis Pigmentosa 59

Variations for Retinitis Pigmentosa 59

UniProtKB/Swiss-Prot genetic disease variations for Retinitis Pigmentosa 59:

71
# Symbol AA change Variation ID SNP ID
1 DHDDS p.Lys42Glu VAR_065356 rs147394623

ClinVar genetic disease variations for Retinitis Pigmentosa 59:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 DHDDS NM_024887.3(DHDDS): c.124A> G (p.Lys42Glu) single nucleotide variant Pathogenic rs147394623 GRCh37 Chromosome 1, 26764719: 26764719
2 DHDDS NM_024887.3(DHDDS): c.192G> A (p.Trp64Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 1, 26769233: 26769233
3 DHDDS NM_024887.3(DHDDS): c.441-24A> G single nucleotide variant Pathogenic rs764831063 GRCh38 Chromosome 1, 26447535: 26447535

Expression for Retinitis Pigmentosa 59

Search GEO for disease gene expression data for Retinitis Pigmentosa 59.

Pathways for Retinitis Pigmentosa 59

GO Terms for Retinitis Pigmentosa 59

Biological processes related to Retinitis Pigmentosa 59 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 biomineral tissue development GO:0031214 8.96 AMELX AMELY
2 tooth mineralization GO:0034505 8.62 AMELX AMELY

Molecular functions related to Retinitis Pigmentosa 59 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 structural constituent of tooth enamel GO:0030345 8.62 AMELX AMELY

Sources for Retinitis Pigmentosa 59

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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