ODCs

Click node...

Growth delay due to insulin-like growth factor I resistance

1 OMIM reference -
1 associated gene
14 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 4

CEDNIK syndrome

1 OMIM reference -
1 associated gene
34 signs/symptoms

Growth delay due to insulin-like growth factor I resistance

CEDNIK syndrome

IGF1R

(UniProt - OMIM)

SNAP29

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	IGF1R	(0.72)	SNAP29

Citations in the biomedical literature:

Growth delay due to insulin-like growth factor I resistance		CEDNIK syndrome
	Synonym(s): - Resistance to IGF-1		Synonym(s): - Cerebral dysgenesis-neuropathy-ichthyosis-palmoplantar keratoderma syndrome

	Classification (Orphanet): - Rare endocrine disease - Rare genetic disease		Classification (Orphanet): - Rare genetic disease - Rare neurologic disease - Rare skin disease

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

	Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: no data available Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: any age Type of inheritance: autosomal recessive

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


COMMON SIGNS	- Autosomal recessive inheritance - Intellectual deficit / mental / psychomotor retardation / learning disability - Microcephaly - Short stature / dwarfism / nanism

Growth delay due to insulin-like growth factor I resistance		CEDNIK syndrome
	Very frequent - Autosomal dominant inheritance - Chromosomal or genetic anomaly - Intrauterine growth retardation Frequent - Abnormally placed nipples - Broad nasal root - Everted lower lip - Pectus excavatum - Philtrum flat / large / featureless / absent cupidon bows - Short hand / brachydactyly - Thin / retracted lips		Very frequent - Absent / hypotonic / flaccid abdominal wall muscles - Ataxia / incoordination / trouble of the equilibrium - Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures - High nasal bridge - Hypertelorism - Ichthyosis / ichthyosiform dermatitis - Long face - Palmoplantar hyperkeratosis / keratoderma Frequent - Abnormal eye movements / oculomotor disorder - Agyria / micro / pachy / macrogyria / lissencephaly / gyration / neuronal migration defect - Areflexia / hyporeflexia - Corpus callosum / septum pellucidum total / partial agenesis - Nerve conduction abnormality - Optic nerve anomaly / optic atrophy / anomaly of the papilla - Peripheral neuropathy Occasional - Abnormal dentition / dental position / implantation / unerupted / dental ankylosis - Anomalies of eyes and vision - Cardiomyopathy / hypertrophic / dilated - Dolichocephaly / scaphocephaly - Flattened nose - Gastrointestinal bleeding / hemorrhage / hematemesis / melena / rectorrhagia - Heart / cardiac failure - Late puberty / hypogonadism / hypogenitalism - Long / large ear - Nephrotic syndrome - Pericardium anomalies / pericarditis / absence / cysts / pericardial effusion - Proteinuria - Seizures / epilepsy / absences / spasms / status epilepticus - Sensorineural deafness / hearing loss - Transient cerebral ischemia / stroke