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1p36 deletion syndrome
1 OMIM reference -
4 associated genes
90 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 10
Marshall-Smith syndrome
1 OMIM reference -
1 associated gene
36 signs/symptoms
1p36 deletion syndrome
Marshall-Smith syndrome

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

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
SKI
(0.75)
NFIX


Citations in the biomedical literature:


1p36 deletion syndrome
GABRD KCNAB2 PRDM16 SKI
Marshall-Smith syndrome
NFIX



1p36 deletion syndrome
Marshall-Smith syndrome

Synonym(s):
- Del(1)(p36)
- Deletion 1p36
- Deletion 1pter
- Monosomy 1p36
- Monosomy 1pter
- Subtelomeric 1p36 deletion
Synonym(s):
- Accelerated skeletal maturation - peculiar facies - failure to thrive
Classification (Orphanet):
- Rare cardiac disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic 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: 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: -
Type of inheritance: unknown
External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: C536026
COMMON
SIGNS 		- Conductive deafness / hearing loss
- Congenital cardiac anomaly / malformation / cardiopathy
- Depressed nasal bridge
- Dilated cerebral ventricles without hydrocephaly
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Frontal bossing / prominent forehead
- Hirsutism / hypertrichosis / Increased body hair
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Optic nerve anomaly / optic atrophy / anomaly of the papilla
- Scoliosis

1p36 deletion syndrome
Marshall-Smith 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
- Hypotonia
- 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
- Constipation
- Epicanthic folds
- Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia
- Flattened nose
- Gastroesophageal reflux / pyrosis / esophagitis / hiatal hernia / gastroparesia
- Hypermetropia
- Large fontanelle / delayed fontanelle closure
- Low set ears / posteriorly rotated ears
- Microstomia / little mouth
- Psychic / behavioural troubles
- Seizures / epilepsy / absences / spasms / status epilepticus
- Strabismus / squint
- 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
- 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
- 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
- Undescended / ectopic testes / cryptorchidia / unfixed testes
- Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment
- Visual loss / blindness / amblyopia


Very frequent
- Advanced bone age
- Anteverted nares / nostrils
- Bowed diaphysis / diaphyses / long bones
- Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia
- Hyperelastic skin / cutaneous hyperlaxity
- Hyperextensible joints / articular hyperlaxity
- Micrognathia / retrognathia / micrognathism / retrognathism
- Narrowed / gracile diaphysis / diaphyses / long bones / dolichostenomelia
- Proptosis / exophthalmos
- Respiratory distress / dyspnea / respiratory failure / lung volume reduction
- Thin skin

Frequent
- Blue sclerae
- Death in infancy
- Ecchymoses
- Hypertelorism
- Laryngomalacia
- Macroglossia / tongue protrusion / proeminent / hypertrophic
- Mouth held open
- Mutiple fractures / bone fragility
- Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets
- Short / small nose
- Stillbirth / neonatal death

Occasional
- Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia
- Choanal atresia
- Craniostenosis / craniosynostosis / sutural synostosis
- Thickened / hypertrophic / fibromatous gingivae