ODCs

Click node...

Linear nevus sebaceus syndrome

1 OMIM reference -
2 associated genes
31 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

Rabson-Mendenhall syndrome

1 OMIM reference -
1 associated gene
27 signs/symptoms

Linear nevus sebaceus syndrome

Rabson-Mendenhall syndrome

HRAS	(UniProt - OMIM)		INSR	(UniProt - OMIM)
KRAS	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	HRAS	(0.67)	INSR

Citations in the biomedical literature:

Linear nevus sebaceus syndrome		Rabson-Mendenhall syndrome
	Synonym(s): - Nevus sebaceus of Jadassohn - Nevus sebaceus syndrome - Organoid nevus syndrome - Schimmelpenning syndrome - Solomon syndrome		Synonym(s): (no synonyms)

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease - Rare oncologic disease - Rare skin disease		Classification (Orphanet): - Rare endocrine disease - Rare genetic disease - Rare skin disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Endocrine, nutritional and metabolic diseases -

	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: unknown Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal recessive

	External references: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: D056731


COMMON SIGNS	- Autosomal dominant inheritance

Linear nevus sebaceus syndrome		Rabson-Mendenhall syndrome
	Very frequent - Adenoma sebaceum - Anophthalmos / anophthalmia / microphthalmos / microphthalmia - Areflexia / hyporeflexia - Asymmetry of the body / hemiatrophy / hemihyperthrophy - 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 - Intellectual deficit / mental / psychomotor retardation / learning disability - Narrow forehead - Pigmented naevi / naevus pigmentosus / lentigo - Prominent occiput / occipital bossing - Seizures / epilepsy / absences / spasms / status epilepticus - 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 - Failure to thrive / difficulties for feeding in infancy / growth delay - Intracranial / cerebral calcifications		Very frequent - Acanthosis nigricans - Acromegaly - Anomalies of teeth and dentition - Anomalies of the abdominal wall - Coarse face - Diabetes mellitus - Dysplastic / thick / grooved fingernails - Female pseudohermaphrodism / virilisation / clitoridomegaly - Hirsutism / hypertrichosis / Increased body hair - Intrauterine growth retardation - Lanugo - Macropenis / megapenis / large penis - Premature eruption of teeth / natal teeth - Prognathism / prognathia Frequent - Coarse / thick hair - Dry / squaly skin / exfoliation - Peripheral neuropathy - Precocious puberty - Premature ageing - Proteinuria - Short hand / brachydactyly - Short stature / dwarfism / nanism - Thick skin / pachydermia / orange skin - Thyroid anomalies Occasional - Abnormal / polycystic ovaries - Megaureter / hydronephrosis / pyeloureteral junction syndrome