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Retinitis pigmentosa
70 OMIM references -
63 associated genes
228 connected diseases
29 signs/symptoms
Disease Type of connection
Cone rod dystrophy
Leber congenital amaurosis
Retinitis punctata albescens
Congenital stationary night blindness
Severe early-childhood-onset retinal dystrophy
Bardet-Biedl syndrome
Fundus albipunctatus
Stargardt disease
Adult-onset foveomacular vitelliform dystrophy
Primary ciliary dyskinesia
Central areolar choroidal dystrophy
Oguchi disease
Butterfly-shaped pigment dystrophy
Joubert syndrome with orofaciodigital defect
Goldmann-Favre syndrome
Retinal macular dystrophy type 2
Autosomal dominant vitreoretinochoroidopathy
Best vitelliform macular dystrophy
Bietti crystalline dystrophy
Bothnia retinal dystrophy
MRCS syndrome
Occult macular dystrophy
Orofaciodigital syndrome type 1
Pigmented paravenous retinochoroidal atrophy
Primary ciliary dyskinesia - retinitis pigmentosa
Retinopathy, Burgess-Black type
Simpson-Golabi-Behmel syndrome type 2
Usher syndrome type 2
Usher syndrome type 3
Amyotrophic lateral sclerosis
Precursor T-cell acute lymphoblastic leukemia
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Young adult-onset Parkinsonism
Burkitt lymphoma
Familial pancreatic carcinoma
Pseudohypoaldosteronism type 2E
Desmoid tumor
46,XY partial gonadal dysgenesis
Autosomal recessive cerebellar ataxia - epilepsy - intellectual deficit
Acute promyelocytic leukemia
Richieri Costa-Pereira syndrome
Mandibulofacial dysostosis-microcephaly syndrome
Early-onset autosomal dominant Alzheimer disease
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Hereditary cerebral hemorrhage with amyloidosis, Dutch type
Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Hereditary cerebral hemorrhage with amyloidosis, Iowa type
Hereditary cerebral hemorrhage with amyloidosis, Italian type
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
B-cell chronic lymphocytic leukemia
Giant cell glioblastoma
Precursor B-cell acute lymphoblastic leukemia
Hereditary breast and ovarian cancer syndrome
Adult-onset distal myopathy due to VCP mutation
Behavioral variant of frontotemporal dementia
Progressive non-fluent aphasia
Semantic dementia
Spastic paraplegia - Paget disease of bone
Complete androgen insensitivity syndrome
Familial hypospadias
Kennedy disease
Partial androgen insensitivity syndrome
Adrenocortical carcinoma
Essential thrombocythemia
Li-Fraumeni syndrome
Papilloma of choroid plexus
Ewing sarcoma
Extraskeletal Ewing sarcoma
Peripheral primitive neuroectodermal tumor
Cornelia de Lange syndrome
Meckel syndrome
Familial prostate cancer
Hereditary breast cancer
Hereditary site-specific ovarian cancer syndrome
Primary peritoneal carcinoma
Autosomal dominant nonsyndromic intellectual deficit
Hepatocellular carcinoma, childhood-onset
17q11 microdeletion syndrome
Alternating hemiplegia of childhood
Atelosteogenesis type I
Atelosteogenesis type III
Autosomal dominant Larsen syndrome
Boomerang dysplasia
Fanconi anemia
Fibronectin glomerulopathy
Frontotemporal dementia with motor neuron disease
Multiple endocrine neoplasia type 1
Spondylocarpotarsal synostosis
Translocation renal cell carcinoma
Papillary or follicular thyroid carcinoma
APC-related attenuated familial adenomatous polyposis
Familial adenomatous polyposis due to 5q22.2 microdeletion
Gardner syndrome
Turcot syndrome with polyposis
Distal hereditary motor neuropathy type 7
Estrogen resistance syndrome
Glucocorticoid resistance
Jeune syndrome
Perry syndrome
Acute myeloblastic leukemia with maturation
Acute myeloblastic leukemia without maturation
Acute myelomonocytic leukemia
Acrodysostosis with multiple hormone resistance
Carney complex
Familial atrial myxoma
Primary pigmented nodular adrenocortical disease
Blackfan-Diamond anemia
Intellectual deficit, X-linked, Turner type
Autosomal dominant Charcot-Marie-Tooth disease type 2M
Autosomal dominant centronuclear myopathy
Autosomal dominant intermediate Charcot-Marie-Tooth disease type B
Fetal akinesia-cerebral and retinal hemorrhage syndrome
Niemann-Pick disease type C, adult neurologic onset
Niemann-Pick disease type C, juvenile neurologic onset
Niemann-Pick disease type C, late infantile neurologic onset
Niemann-Pick disease type C, severe early infantile neurologic onset
Niemann-Pick disease type C, severe perinatal form
Spinocerebellar ataxia type 7
Goldberg-Shprintzen megacolon syndrome
Autosomal recessive proximal renal tubular acidosis
Distal 22q11.2 microdeletion syndrome
Autoimmune lymphoproliferative syndrome with recurrent infections
Intellectual deficit - sparse hair - brachydactyly
Truncus arteriosus
Autosomal dominant distal renal tubular acidosis
Distal renal tubular acidosis with anemia
Hereditary spherocytosis
Multiple osteochondromas
Nager syndrome
Potocki-Shaffer syndrome
Southeast Asian ovalocytosis
Hereditary persistence of fetal hemoglobin - beta-thalassemia
Idiopathic CD4 lymphocytopenia
Dedifferentiated liposarcoma
Well-differentiated liposarcoma
3-phosphoglycerate dehydrogenase deficiency
Baraitser-Winter syndrome
Common variable immunodeficiency
Congenital analbuminemia
Developmental malformations - deafness - dystonia
Nestor-Guillermo progeria syndrome
Huntington disease
Juvenile Huntington disease
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression
Young adult-onset distal hereditary motor neuropathy
Angelman syndrome
Apolipoprotein A-I deficiency
Autosomal agammaglobulinemia
Autosomal recessive nonsyndromic intellectual deficit
Cap myopathy
Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss
Childhood-onset nemaline myopathy
Chronic mucocutaneous candidiasis
Chuvash erythrocytosis
Congenital fiber-type disproportion myopathy
Dyskeratosis congenita
Early infantile epileptic encephalopathy
Familial gastric cancer
Familial or sporadic hemiplegic migraine
Familial partial lipodystrophy associated with PPARG mutations
Gastric linitis plastica
Glycogen storage disease due to LAMP-2 deficiency
Glycogen storage disease due to liver phosphorylase kinase deficiency
Hoyeraal-Hreidarsson syndrome
Inflammatory myofibroblastic tumor
Intermediate nemaline myopathy
LEOPARD syndrome
Leber hereditary optic neuropathy
MELAS syndrome
Maternally-inherited Leigh syndrome
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
Monomelic amyotrophy
Mosaic variegated aneuploidy syndrome
Noonan syndrome
Pediatric systemic lupus erythematosus
Pilocytic astrocytoma
Prader-Willi syndrome due to imprinting mutation
Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
Prader-Willi syndrome due to translocation
Pure hair and nail ectodermal dysplasia
Rapid-onset dystonia-parkinsonism
Retinopathy - anemia- central nervous system anomalies
Saldino-Mainzer syndrome
Senior-Loken syndrome
Spinal muscular atrophy with respiratory distress
Spinocerebellar ataxia type 2
Spondylometaphyseal dysplasia - cone-rod dystrophy
Tangier disease
Von Hippel-Lindau disease
Weaver syndrome
Williams syndrome
Wolf-Hirschhorn syndrome
X-linked Emery-Dreifuss muscular dystrophy
Xeroderma pigmentosum complementation group E
Heritable pulmonary arterial hypertension
Idiopathic pulmonary arterial hypertension
Pulmonary venoocclusive disease
Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema
Hypohidrotic ectodermal dysplasia with immunodeficiency
Hypotrichosis simplex
Incontinentia pigmenti
X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency
Acute myeloid leukemia with t(8;16)(p11;p13) translocation
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
Rubinstein-Taybi syndrome due to CREBBP mutations
17p13.3 microduplication syndrome
Autosomal dominant Alport syndrome
Autosomal recessive Alport syndrome
Distal 17p13.3 microdeletion syndrome
Dominant hypophosphatemia with nephrolithiasis or osteoporosis
Hypocalcemic vitamin D-resistant rickets
Miller-Dieker syndrome
Progressive retinal dystrophy due to retinol transport defect
Carnitine palmitoyl transferase 1A deficiency
Developmental delay-microcephaly-facial dysmorphism syndrome, Hutterite type
Familial glucocorticoid deficiency
Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality
Severe combined immunodeficiency due to DNA-PKcs deficiency
(no synonyms)

Classification (Orphanet):
- Rare eye disease
- Rare genetic disease

Classification (ICD10):
- Diseases of the eye and adnexa -

Epidemiological data:
Class of prevalence: 1-5 / 10 000
Average age onset: variable
Average age of death: normal
Type of inheritance: autosomal dominant
External references:
70 OMIM references -
1 MeSH reference: D012174

Very frequent
- Abnormal ERG / electroretinogram / electroretinography
- Abnormal scarring / cheloids / hypertrophic scars
- Anteverted nares / nostrils
- Autosomal dominant inheritance
- Autosomal recessive inheritance
- Broad nasal root
- Conductive deafness / hearing loss
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Late puberty / hypogonadism / hypogenitalism
- Micropenis / small penis / agenesis
- Mild visual loss / impaired visual acuity
- Night blindness / hemeralopia
- Nystagmus
- Optic nerve anomaly / optic atrophy / anomaly of the papilla
- Photophobia
- Retinal vascular anomalies / retinal telangiectasia
- Retinitis pigmentosa / retinal pigmentary changes
- Sensorineural deafness / hearing loss
- Small / atrophic / hypoplastic testes / monorchism / microorchidism / anorchia
- Visual loss / blindness / amblyopia
- X-linked recessive inheritance

- Cataract / lens opacification
- Generalized obesity
- Glaucoma
- Hyperinsulinism / hyperinsulinemia
- Keratoconus / keratoglobus
- Ophthalmoplegia / ophthalmoparesis / oculomotor palsy

- Hypereflexia
- Insulin-independent / type 2 diabetes