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Perlman syndrome
1 OMIM reference -
1 associated gene
32 signs/symptoms
PROTEIN INTERACTIONS: 1
Pulverulent cataract
7 OMIM references -
7 associated genes
No signs/symptoms info
Perlman syndrome
Pulverulent cataract

DIS3L2
(UniProt - OMIM)
 CRYBB1
(UniProt - OMIM)
CRYGC
(UniProt - OMIM)
GJA3
(UniProt - OMIM)
GJA8
(UniProt - OMIM)
LIM2
(UniProt - OMIM)
MAF
(UniProt - OMIM)
VIM
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
DIS3L2
(0.63)
VIM


Citations in the biomedical literature:


Perlman syndrome
DIS3L2
Pulverulent cataract
CRYBB1 CRYGC GJA3 GJA8 LIM2 MAF
VIM



Perlman syndrome
Pulverulent cataract

Synonym(s):
- Nephroblastomatosis - fetal ascites - macrosomia - Wilms tumor
Synonym(s):
- Dusty cataract
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare oncologic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
Epidemiological data:
(no data available)
External references:
1 OMIM reference -
No MeSH references
External references:
7 OMIM references -
No MeSH references
Perlman syndrome

Very frequent
- Autosomal recessive inheritance
- Broad nasal root
- Deepset eyes / enophthalmos
- Hepatomegaly / liver enlargement (excluding storage disease)
- High forehead
- Hypotonia
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Macrocephaly / macrocrania / megalocephaly / megacephaly
- Micrognathia / retrognathia / micrognathism / retrognathism
- Mouth held open
- Philtrum flat / large / featureless / absent cupidon bows
- Round face
- Short / small nose
- Tall stature / gigantism / growth acceleration

Frequent
- Anteverted nares / nostrils
- Broad alveolar ridge
- Epicanthic folds
- Helix thickened / sculpted
- High vaulted / narrow palate
- Hyperinsulinism / hyperinsulinemia
- Low set ears / posteriorly rotated ears
- Micropenis / small penis / agenesis
- Nephroblastoma / Wilms tumor
- Polyhydramnios
- Structural anomalies of the pancreas
- Undescended / ectopic testes / cryptorchidia / unfixed testes

Occasional
- Capillary hemangioma / nevus / naevus flammeus / port-wine stain
- Dolichocephaly / scaphocephaly
- Inguinal / inguinoscrotal / crural hernia
- Ptosis
- Seizures / epilepsy / absences / spasms / status epilepticus
- Simian crease / transverse / unique palmar crease


Pulverulent cataract

(no data available)