ODCs

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1p36 deletion syndrome

1 OMIM reference -
4 associated genes
90 signs/symptoms

COMMON GENES: 1
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 12

Shprintzen-Goldberg syndrome

1 OMIM reference -
2 associated genes
55 signs/symptoms

1p36 deletion syndrome

Shprintzen-Goldberg syndrome

GABRD	(UniProt - OMIM)	FBN1	(UniProt - OMIM)
KCNAB2	(UniProt - OMIM)	SKI	(UniProt - OMIM)
PRDM16	(UniProt - OMIM)
SKI	(UniProt - OMIM)


COMMON GENES	SKI


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	PRDM16	(0.63)	SKI

Citations in the biomedical literature:

1p36 deletion syndrome		Shprintzen-Goldberg syndrome
	Synonym(s): - Del(1)(p36) - Deletion 1p36 - Deletion 1pter - Monosomy 1p36 - Monosomy 1pter - Subtelomeric 1p36 deletion		Synonym(s): - Marfanoid craniosynostosis syndrome - SGS

	Classification (Orphanet): - Rare cardiac disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic disease - Rare systemic or rheumatologic 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: neonatal/infancy 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: no data available Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: C537328


COMMON SIGNS	- Conductive deafness / hearing loss - Dilated cerebral ventricles without hydrocephaly - Failure to thrive / difficulties for feeding in infancy / growth delay - Frontal bossing / prominent forehead - Gastroesophageal reflux / pyrosis / esophagitis / hiatal hernia / gastroparesia - Hypotonia - Intellectual deficit / mental / psychomotor retardation / learning disability - Large fontanelle / delayed fontanelle closure - Low set ears / posteriorly rotated ears - Scoliosis - Strabismus / squint - Undescended / ectopic testes / cryptorchidia / unfixed testes

1p36 deletion syndrome		Shprintzen-Goldberg syndrome
	Very frequent - Abnormal gait - Broad nasal root - Camptodactyly of fingers - Corpus callosum / septum pellucidum total / partial agenesis - Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy - Deepset eyes / enophthalmos - EEG anomalies - Enlargment of jaw / large jaw - Eyebrows anomalies - Insterstitial / subtelomeric microdeletion / deletion - Long philtrum - Mid-facial hypoplasia / short / small midface - Pointed chin - Short foot / brachydactyly of toes - Short hand / brachydactyly - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia Frequent - Anomalies of eyes and vision - Autism / autistic disoders - Auto-aggressivity / auto-mutilation - Brachycephaly / flat occiput - Clinodactyly of fifth finger - Congenital cardiac anomaly / malformation / cardiopathy - Constipation - Depressed nasal bridge - Epicanthic folds - Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia - Flattened nose - Hypermetropia - Microstomia / little mouth - Psychic / behavioural troubles - Seizures / epilepsy / absences / spasms / status epilepticus - Tics / stereotypias Occasional - Annular pancreas - Anomalies of the neck - Anomalies of the ribs - Anus / rectum anomalies - Bulimia / hyperphagia - Cardiac septal defect - Cardiac valvulopathy - Cardiomyopathy / hypertrophic / dilated - Cataract / lens opacification - Clitoris / labia majora / labia minora / female external genitalia hypoplasia - Early death / lethality - Gastric / pyloric stenosis - Generalized obesity - Hemiplegia / diplegia / hemiparesia / limb palsy - Hirsutism / hypertrichosis / Increased body hair - Hypoplastic aorta / coarctation / stenosis / anomaly / aortic arch interruption - Hypospadias / epispadias / bent penis - Hypothyroidy - Immunodeficiency / increased susceptibility to infections / recurrent infections - Intestinal / colonic anomaly - Kyphosis - Late puberty / hypogonadism / hypogenitalism - Liver / hepatic steatosis - Lower limb asymmetry / hemiatrophy / hemihypertrophy - Macules - Megaureter / hydronephrosis / pyeloureteral junction syndrome - Micropenis / small penis / agenesis - Microtia / cryptomicrotia / anotia / external auditory canal / pinnae aplasia / hypoplasia - Myopathy - Neuroblastoma - Nystagmus - Optic nerve anomaly / optic atrophy / anomaly of the papilla - Patent ductus arteriosus - Polydactyly of toes - Rachidian / spine canal stenosis - Renal cyst (single) - Renal / kidney anomalies - Retinal albinism - Sensorineural deafness / hearing loss - Short stature / dwarfism / nanism - Structural and functional anomalies of the spleen - Structural anomalies of the liver and the biliary tract - Telangiectasiae of the skin - Tetralogy of Fallot / trilogy of Fallot - Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment - Visual loss / blindness / amblyopia		Very frequent - Dolichocephaly / scaphocephaly - Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures - Flat foot - High vaulted / narrow palate - Hypertelorism - Long hand / arachnodactyly - Marfanoid morphotype - Micrognathia / retrognathia / micrognathism / retrognathism - Proptosis / exophthalmos - Telecanthus / canthal dystopy Frequent - Aortic valve anomaly / incompetence / insufficiency / regurgitation / bicuspid - Camptodactyly of some fingers - Communicating hydrocephaly - Craniostenosis / craniosynostosis / sutural synostosis - Flexion deformity of toes (excluding big toe) / hammer toe / camptodactyly of toes - High forehead - Hyperextensible joints / articular hyperlaxity - Hypoplastic maxillary bones / zygomatic bones / maxillary hypoplasia - Inguinal / inguinoscrotal / crural hernia - Mitral valve prolapse / incompetence / insufficiency / regurgitation / ring anomaly - Pectus carinatum - Pectus excavatum - Ptosis - Talipes-varus / metatarsal varus - Umbilical hernia Occasional - Abnormal vertebral size / shape - Absent / hypotonic / flaccid abdominal wall muscles - Anteverted nares / nostrils - Apnea / sleep apnea - Arnold-Chiari anomaly - Autosomal dominant inheritance - Bowed diaphysis / diaphyses / long bones - Elbow dislocation - Genu valgum - Hyperelastic skin / cutaneous hyperlaxity - Metaphyseal anomaly - Microcephaly - Myopia - Narrow rib cage / thorax - Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets - Prominent / bat ears - Restricted joint mobility / joint stiffness / ankylosis - Rib number anomalies