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1 OMIM reference -
2 associated genes
31 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 7
4 OMIM references -
5 associated genes
36 signs/symptoms
Linear nevus sebaceus syndrome
Joubert syndrome with orofaciodigital defect

HRAS KIF7
KRAS OFD1
PDE6D
TCTN3
TMEM216


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
HRAS
(0.75)
PDE6D



Citations in the biomedical literature:


Linear nevus sebaceus syndrome
HRAS KRAS
Joubert syndrome with orofaciodigital defect
KIF7 OFD1 PDE6D TCTN3 TMEM216



Linear nevus sebaceus syndrome
Joubert syndrome with orofaciodigital defect

Synonym(s):
- Nevus sebaceus of Jadassohn
- Nevus sebaceus syndrome
- Organoid nevus syndrome
- Schimmelpenning syndrome
- Solomon syndrome

Synonym(s):
- Joubert syndrome with oral-facial-digital syndrome
- OFD6
- Oral-facial-digital syndrome type 6
- Orofaciodigital syndrome type 6
- Polydactyly - cleft lip/palate - psychomotor retardation
- Váradi syndrome
- Váradi-Papp syndrome

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare oncologic disease
- Rare skin disease
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare maxillo-facial surgical disease
- Rare neurologic disease
- Rare otorhinolaryngologic disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: unknown
Average age onset: childhood
Average age of death: any age
Type of inheritance: sporadic
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive

External references:
1 OMIM reference -
No MeSH references
External references:
4 OMIM references -
No MeSH references


COMMON
SIGNS
- Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia
- Coloboma of iris
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Hypotonia
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Narrow forehead
- Seizures / epilepsy / absences / spasms / status epilepticus


Linear nevus sebaceus syndrome
Joubert syndrome with orofaciodigital defect

Very frequent
- Adenoma sebaceum
- Anophthalmos / anophthalmia / microphthalmos / microphthalmia
- Areflexia / hyporeflexia
- Asymmetry of the body / hemiatrophy / hemihyperthrophy
- Autosomal dominant inheritance
- Cavernous / tuberous hemangioma
- Dilated cerebral ventricles without hydrocephaly
- EEG anomalies
- Frontal bossing / prominent forehead
- Genu recurvatum
- Hypereflexia
- Hypotrichosis / atrichia / atrichiasis / scalp hairlessness
- Pigmented naevi / naevus pigmentosus / lentigo
- Prominent occiput / occipital bossing
- Telecanthus / canthal dystopy
- Vertebral segmentation anomaly / hemivertebrae

Frequent
- Anomalies of eyes and vision
- Facial structural asymmetry / facial hemiatrophy / facial hemihypertrophy
- Irregular / in bands / reticular skin hyperpigmentation
- Plagiocephaly
- Porencephaly

Occasional
- Corpus callosum / septum pellucidum total / partial agenesis
- Dandy-Walker anomaly
- Intracranial / cerebral calcifications


Very frequent
- Apnea / sleep apnea
- Ataxia / incoordination / trouble of the equilibrium
- Autosomal recessive inheritance
- Cleft / notched / bifid tongue
- Metacarpal anomalies / Archibald's sign
- Oculomotor apraxia / dyspraxia
- Oral synechiae / abnormal frenulae
- Polydactyly of toes
- Respiratory rhythm disorder
- Upper limb polydactyly / hexadactyly

Frequent
- Abnormal gait
- Cleft lip
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Hamartoma / tumefaction of the tongue / gingivae / oral mucosa
- Hypothalamic-hypophyseal axis anomalies / hypothalamus / pituitary anomalies
- Long face
- Nystagmus
- Undescended / ectopic testes / cryptorchidia / unfixed testes

Occasional
- Anteverted nares / nostrils
- Congenital cardiac anomaly / malformation / cardiopathy
- Dolichocolon / megacolon / megadolichocolon / Hirschsprung's disease
- Encephalocele / exencephaly
- High arched eyebrows
- High nasal bridge
- Inguinal / inguinoscrotal / crural hernia
- Low set ears / posteriorly rotated ears
- Ptosis
- Strabismus / squint
- Tremor