Retinitis Pigmentosa 77 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Retinitis Pigmentosa 77

MalaCards integrated aliases for Retinitis Pigmentosa 77:

Name: Retinitis Pigmentosa 77 ⁵⁷ ¹² ⁷² ²⁹ ⁶

Rp77 ⁵⁷ ⁷²

Retinitis Pigmentosa, Type 77 ³⁹

Characteristics:

OMIM®:

⁵⁷ (Updated 20-May-2021)

Inheritance:
autosomal recessive

Miscellaneous:
onset of symptoms ranges from early childhood to age 20 years

HPO:

³¹

retinitis pigmentosa 77:
Inheritance autosomal recessive inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Neuronal diseases Eye diseases Nephrological diseases Ear diseases

See all MalaCards categories (disease lists)

ICD10: ³²

Diseases of the eye and adnexa

Disorders of choroid and retina

Other retinal disorders

Hereditary retinal dystrophy

External Ids:

Disease Ontology ¹² DOID:0080350

OMIM® ⁵⁷ 617304

OMIM Phenotypic Series ⁵⁷ PS268000

MeSH ⁴⁴ D012174

ICD10 ³² H35.5

MedGen ⁴¹ C4310626 CN239959

SNOMED-CT via HPO ⁶⁸ 13164000 193387007 258211005 more

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Summaries for Retinitis Pigmentosa 77

UniProtKB/Swiss-Prot : ⁷² Retinitis pigmentosa 77: A form of retinitis pigmentosa, 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. RP77 inheritance is autosomal recessive.

MalaCards based summary : Retinitis Pigmentosa 77, is also known as rp77. An important gene associated with Retinitis Pigmentosa 77 is REEP6 (Receptor Accessory Protein 6). Affiliated tissues include eye, retina and bone, and related phenotypes are cystoid macular edema and reduced visual acuity

Disease Ontology : ¹² A retinitis pigmentosa that has material basis in mutation in the REEP6 gene on chromosome 19p13.

More information from OMIM: 617304 PS268000

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Related Diseases for Retinitis Pigmentosa 77

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
Retinitis Pigmentosa 86	Retinitis Pigmentosa 88
Retinitis Pigmentosa 89	Retinitis Pigmentosa 90
Nonsyndromic Retinitis Pigmentosa

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Symptoms & Phenotypes for Retinitis Pigmentosa 77

Human phenotypes related to Retinitis Pigmentosa 77:

³¹ (show all 6)

#	Description	HPO Frequency	HPO Source Accession
1	cystoid macular edema ³¹	occasional (7.5%)	HP:0011505
2	reduced visual acuity ³¹		HP:0007663
3	nyctalopia ³¹		HP:0000662
4	rod-cone dystrophy ³¹		HP:0000510
5	posterior subcapsular cataract ³¹		HP:0007787
6	retinal atrophy ³¹		HP:0001105

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 20-May-2021)

Head And Neck Eyes:
nyctalopia
attenuated retinal vessels
cystoid macular edema (in some patients)
posterior subcapsular cataracts
reduced peripheral visual fields, progressive
more

Clinical features from OMIM®:

617304 (Updated 20-May-2021)

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Drugs & Therapeutics for Retinitis Pigmentosa 77

Search Clinical Trials , NIH Clinical Center for Retinitis Pigmentosa 77

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Genetic Tests for Retinitis Pigmentosa 77

Genetic tests related to Retinitis Pigmentosa 77:

#	Genetic test	Affiliating Genes
1	Retinitis Pigmentosa 77 ²⁹	REEP6

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Anatomical Context for Retinitis Pigmentosa 77

MalaCards organs/tissues related to Retinitis Pigmentosa 77:

⁴⁰

Eye, Retina, Bone

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Publications for Retinitis Pigmentosa 77

Articles related to Retinitis Pigmentosa 77:

#	Title	Authors	PMID	Year
1	Mutations in REEP6 Cause Autosomal-Recessive Retinitis Pigmentosa. ⁵⁷ ⁶	Arno G...Chen R	27889058	2016

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Genes for Retinitis Pigmentosa 77

Genes related to Retinitis Pigmentosa 77 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	REEP6	Receptor Accessory Protein 6	Protein Coding	1327.44	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷² Genetic Tests ²⁹ GeneCards inferred via : Disorders Summaries Variants (show sections)	27889058

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Variations for Retinitis Pigmentosa 77

ClinVar genetic disease variations for Retinitis Pigmentosa 77:

⁶

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	REEP6	NM_138393.4(REEP6):c.383C>T (p.Pro128Leu)	SNV	Pathogenic	374992	rs1057519317	GRCh37: 19:1496318-1496318 GRCh38: 19:1496319-1496319
2	REEP6	NM_138393.4(REEP6):c.404T>C (p.Leu135Pro)	SNV	Pathogenic	374989	rs1057519316	GRCh37: 19:1496339-1496339 GRCh38: 19:1496340-1496340
3	REEP6	NM_138393.4(REEP6):c.517+177dup	Duplication	Pathogenic	374991	rs1057519427	GRCh37: 19:1496625-1496626 GRCh38: 19:1496626-1496627
4	REEP6	NM_138393.4(REEP6):c.448del (p.Ala150fs)	Deletion	Pathogenic	375312	rs1057519341	GRCh37: 19:1496380-1496380 GRCh38: 19:1496381-1496381

UniProtKB/Swiss-Prot genetic disease variations for Retinitis Pigmentosa 77:

⁷²

#	Symbol	AA change	Variation ID	SNP ID
1	REEP6	p.Pro128Leu	VAR_077931	rs105751931
2	REEP6	p.Leu135Pro	VAR_077932	rs105751931
3	REEP6	p.Glu75Lys	VAR_081396	rs144942685

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Expression for Retinitis Pigmentosa 77

Search GEO for disease gene expression data for Retinitis Pigmentosa 77.

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Pathways for Retinitis Pigmentosa 77

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GO Terms for Retinitis Pigmentosa 77

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⁷¹ UMLS via Orphanet

⁷² UniProtKB/Swiss-Prot

⁷³ Wikipedia

Retinitis Pigmentosa 77 (RP77)

Aliases & Classifications for Retinitis Pigmentosa 77

MalaCards integrated aliases for Retinitis Pigmentosa 77:

Characteristics:

OMIM®:

HPO:

Classifications:

External Ids:

Summaries for Retinitis Pigmentosa 77

Related Diseases for Retinitis Pigmentosa 77

Diseases in the Retinitis Pigmentosa family:

Symptoms & Phenotypes for Retinitis Pigmentosa 77

Human phenotypes related to Retinitis Pigmentosa 77:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

Drugs & Therapeutics for Retinitis Pigmentosa 77

Genetic Tests for Retinitis Pigmentosa 77

Genetic tests related to Retinitis Pigmentosa 77:

Anatomical Context for Retinitis Pigmentosa 77

MalaCards organs/tissues related to Retinitis Pigmentosa 77:

Publications for Retinitis Pigmentosa 77

Articles related to Retinitis Pigmentosa 77:

Genes for Retinitis Pigmentosa 77

Genes related to Retinitis Pigmentosa 77 (1 elite genes):

Variations for Retinitis Pigmentosa 77

ClinVar genetic disease variations for Retinitis Pigmentosa 77:

UniProtKB/Swiss-Prot genetic disease variations for Retinitis Pigmentosa 77:

Expression for Retinitis Pigmentosa 77

Pathways for Retinitis Pigmentosa 77

GO Terms for Retinitis Pigmentosa 77

Sources for Retinitis Pigmentosa 77