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1 OMIM reference -
2 associated genes
21 signs/symptoms
PROTEIN INTERACTIONS: 4
COMMON SIGNS: 1
70 OMIM references -
63 associated genes
29 signs/symptoms
Desmoid tumor
Retinitis pigmentosa

APC ABCA4
CTNNB1 AIPL1
ARL2BP
ARL6
BEST1
C2ORF71
C8ORF37
CA4
CDHR1
CERKL
CLRN1
CNGA1
CNGB1
CRB1
CRX
CYP4V2
DHDDS
EYS
FAM161A
FSCN2
GUCA1B
IDH3B
IMPDH1
IMPG2
KLHL7
LRAT
MAK
MERTK
NEK2
NR2E3
NRL
OFD1
PDE6A
PDE6B
PDE6G
PRCD
PROM1
PRPF3
PRPF31
PRPF6
PRPF8
PRPH2
RBP3
RDH12
RGR
RHO
RLBP1
ROM1
RP1
RP1L1
RP2
RP9
RPE65
RPGR
SAG
SEMA4A
SNRNP200
SPATA7
TOPORS
TTC8
TULP1
USH2A
ZNF513


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
APC
CTNNB1
CTNNB1
APC
(0.7)
(0.7)
(0.63)
(0.52)
SNRNP200
NEK2
PRPF6
RP1



Citations in the biomedical literature:


Desmoid tumor
APC CTNNB1
Retinitis pigmentosa
ABCA4 AIPL1 ARL2BP ARL6 BEST1 C2ORF71
C8ORF37 CA4 CDHR1 CERKL CLRN1 CNGA1
CNGB1 CRB1 CRX CYP4V2 DHDDS EYS
FAM161A FSCN2 GUCA1B IDH3B IMPDH1 IMPG2
KLHL7 LRAT MAK MERTK NEK2 NR2E3
NRL OFD1 PDE6A PDE6B PDE6G PRCD
PROM1 PRPF3 PRPF31 PRPF6 PRPF8 PRPH2
RBP3 RDH12 RGR RHO RLBP1 ROM1
RP1 RP1L1 RP2 RP9 RPE65 RPGR
SAG SEMA4A SNRNP200 SPATA7 TOPORS TTC8
TULP1 USH2A ZNF513



Desmoid tumor
Retinitis pigmentosa

Synonym(s):
- Aggressive fibromatosis
- Desmoid type fibromatosis

Synonym(s):
(no synonyms)

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

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

Epidemiological data:
Class of prevalence: unknown
Average age onset: adolescence / young
Average age of death: normal
Type of inheritance: sporadic
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:
1 OMIM reference -
No MeSH references
External references:
70 OMIM references -
1 MeSH reference: D012174


COMMON
SIGNS
- Retinitis pigmentosa / retinal pigmentary changes


Desmoid tumor
Retinitis pigmentosa

Very frequent
- Anomalies of the abdominal wall
- Fibromatosis / bone fibroma
- Muscle anomalies
- Soft tissue sarcoma / cancer / tumor / liposarcoma / myosarcoma
- Subcutaneous nodules / lipomas / tumefaction / swelling

Frequent
- Acute abdominal pain / colic
- Myalgia / muscular pain
- Polyposis of the bowel / colon / intestine

Occasional
- Articular / joint pain / arthralgia
- Bladder and ureter anomalies
- Early death / lethality
- Gastrointestinal bleeding / hemorrhage / hematemesis / melena / rectorrhagia
- Intestinal obstruction / ileus
- Malabsorption / chronic diarrhea / steatorrhea
- Megaureter / hydronephrosis / pyeloureteral junction syndrome
- Osteolysis / osteoclasia / bone destruction / erosions
- Restricted joint mobility / joint stiffness / ankylosis
- Sepsis severe / septicemia
- Skin tumors / lumps / epidermal cysts
- Thoracic / chest pain


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
- Sensorineural deafness / hearing loss
- Small / atrophic / hypoplastic testes / monorchism / microorchidism / anorchia
- Visual loss / blindness / amblyopia
- X-linked recessive inheritance

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

Occasional
- Hypereflexia
- Insulin-independent / type 2 diabetes