ODCs

Click node...

Linear nevus sebaceus syndrome

1 OMIM reference -
2 associated genes
31 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 4

Distal 22q11.2 microdeletion syndrome

1 OMIM reference -
3 associated genes
60 signs/symptoms

Linear nevus sebaceus syndrome

Distal 22q11.2 microdeletion syndrome

HRAS	(UniProt - OMIM)	BCR	(UniProt - OMIM)
KRAS	(UniProt - OMIM)	CRKL	(UniProt - OMIM)
		MAPK1	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	KRAS	(0.63)	MAPK1

Citations in the biomedical literature:

Linear nevus sebaceus syndrome		Distal 22q11.2 microdeletion syndrome
	Synonym(s): - Nevus sebaceus of Jadassohn - Nevus sebaceus syndrome - Organoid nevus syndrome - Schimmelpenning syndrome - Solomon syndrome		Synonym(s): - Distal del(22)(q11.2) - Distal monosomy 22q11.2

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease - Rare oncologic disease - Rare skin disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic 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: (no data available)

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


COMMON SIGNS	- Facial structural asymmetry / facial hemiatrophy / facial hemihypertrophy - Failure to thrive / difficulties for feeding in infancy / growth delay - Intellectual deficit / mental / psychomotor retardation / learning disability - Seizures / epilepsy / absences / spasms / status epilepticus

Linear nevus sebaceus syndrome		Distal 22q11.2 microdeletion syndrome
	Very frequent - Adenoma sebaceum - Anophthalmos / anophthalmia / microphthalmos / microphthalmia - Areflexia / hyporeflexia - Asymmetry of the body / hemiatrophy / hemihyperthrophy - Autosomal dominant inheritance - Cavernous / tuberous hemangioma - Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia - Coloboma of iris - Dilated cerebral ventricles without hydrocephaly - EEG anomalies - Frontal bossing / prominent forehead - Genu recurvatum - Hypereflexia - Hypotonia - Hypotrichosis / atrichia / atrichiasis / scalp hairlessness - Narrow forehead - Pigmented naevi / naevus pigmentosus / lentigo - Prominent occiput / occipital bossing - Telecanthus / canthal dystopy - Vertebral segmentation anomaly / hemivertebrae Frequent - Anomalies of eyes and vision - Irregular / in bands / reticular skin hyperpigmentation - Plagiocephaly - Porencephaly Occasional - Corpus callosum / septum pellucidum total / partial agenesis - Dandy-Walker anomaly - Intracranial / cerebral calcifications		Very frequent - High arched eyebrows - Insterstitial / subtelomeric microdeletion / deletion - Philtrum flat / large / featureless / absent cupidon bows - Prematurity - Short stature / dwarfism / nanism - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia Frequent - Absent / small fingernails / anonychia of hands - Absent / small toenails / anonychia of feet - Central nervous system / peripheral nerves neoplasm / tumor / carcinoma / cancer - Clinodactyly of fifth finger - Common arterial trunk / truncal valve - Deepset eyes / enophthalmos - External ear anomalies - Flat foot - Intrauterine growth retardation - Microcephaly - Pointed chin - Thin / hypoplastic ala nasi - Thin / retracted lips Occasional - Ankyloglossia / lingual synechiae - Aortic root dilatation / dilation / aneurysm - Aortic valve anomaly / incompetence / insufficiency / regurgitation / bicuspid - Atrial septal defect / interauricular communication - Blepharophimosis / short palpebral fissures - Bowed diaphysis / diaphyses / long bones - Branchial / posterior auricular / preauricular / cheek cysts / fistulae - Camptodactyly of some fingers - Choanal atresia - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Encopresis / fecal incontinence - Flat cheek bones / malar hypoplasia - Gastric / pyloric stenosis - High nasal bridge - High vaulted / narrow palate - Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana - Humour troubles / anxiety / depression / apathy / euphoria / irritability - Hyperactivity / attention deficit - Hyperextensible joints / articular hyperlaxity - Immunodeficiency / increased susceptibility to infections / recurrent infections - Inguinal / inguinoscrotal / crural hernia - Long face - Long hand / arachnodactyly - Lordosis - Microstomia / little mouth - Obsessive-compulsive disorder - Oculomotor apraxia / dyspraxia - Recurrent urinary infections - Repeat respiratory infections - Sensorineural deafness / hearing loss - Short hand / brachydactyly - Syndactyly of toes - Terminal / third phalangeal bone of fingers hypoplasia - Tics / stereotypias - Ulnar deviation of fingers - Ventricular septal defect / interventricular communication - Wide space between 1st-2nd toes