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1p36 deletion syndrome
1 OMIM reference -
4 associated genes
90 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 11
Monosomy 13q14
1 OMIM reference -
1 associated gene
31 signs/symptoms
1p36 deletion syndrome
Monosomy 13q14

GABRD
(UniProt - OMIM)
 RB1
(UniProt - OMIM)
KCNAB2
(UniProt - OMIM)
PRDM16
(UniProt - OMIM)
SKI
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
SKI
(0.63)
RB1


Citations in the biomedical literature:


1p36 deletion syndrome
GABRD KCNAB2 PRDM16 SKI
Monosomy 13q14
RB1



1p36 deletion syndrome
Monosomy 13q14

Synonym(s):
- Del(1)(p36)
- Deletion 1p36
- Deletion 1pter
- Monosomy 1p36
- Monosomy 1pter
- Subtelomeric 1p36 deletion
Synonym(s):
- Del(13)(q14)
- Deletion 13q14 syndrome
Classification (Orphanet):
- Rare cardiac disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare eye disease
- 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:
(no data available)
External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
No MeSH references
COMMON
SIGNS 		- Anus / rectum anomalies
- Cataract / lens opacification
- Clinodactyly of fifth finger
- Congenital cardiac anomaly / malformation / cardiopathy
- Corpus callosum / septum pellucidum total / partial agenesis
- Epicanthic folds
- Hypotonia
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Low set ears / posteriorly rotated ears
- Short hand / brachydactyly
- Short stature / dwarfism / nanism

1p36 deletion syndrome
Monosomy 13q14

Very frequent
- Abnormal gait
- Broad nasal root
- Camptodactyly of fingers
- Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy
- Deepset eyes / enophthalmos
- Dilated cerebral ventricles without hydrocephaly
- EEG anomalies
- Enlargment of jaw / large jaw
- Eyebrows anomalies
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Insterstitial / subtelomeric microdeletion / deletion
- Long philtrum
- Mid-facial hypoplasia / short / small midface
- Pointed chin
- Short foot / brachydactyly of toes
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia

Frequent
- Anomalies of eyes and vision
- Autism / autistic disoders
- Auto-aggressivity / auto-mutilation
- Brachycephaly / flat occiput
- Constipation
- Depressed nasal bridge
- Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia
- Flattened nose
- Gastroesophageal reflux / pyrosis / esophagitis / hiatal hernia / gastroparesia
- Hypermetropia
- Large fontanelle / delayed fontanelle closure
- 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
- Bulimia / hyperphagia
- Cardiac septal defect
- Cardiac valvulopathy
- Cardiomyopathy / hypertrophic / dilated
- Clitoris / labia majora / labia minora / female external genitalia hypoplasia
- Conductive deafness / hearing loss
- Early death / lethality
- Frontal bossing / prominent forehead
- 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
- Scoliosis
- Sensorineural deafness / hearing loss
- 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
- Broad nose / nasal bridge
- Helix thickened / sculpted
- High nasal bridge
- Hypertelorism
- Intrauterine growth retardation
- Microcephaly
- Total / partial trisomy / duplication

Frequent
- Abnormal dermatoglyphics
- Anophthalmos / anophthalmia / microphthalmos / microphthalmia
- Coloboma of iris
- Micrognathia / retrognathia / micrognathism / retrognathism
- Prominent / bat ears
- Ptosis
- Retinoblastoma
- Short neck
- Syndactyly of fingers / interdigital palm
- Trigonocephaly

Occasional
- Holoprosencephaly / arhinencephaly / unique lateral ventricle
- Thumb hypoplasia / aplasia / absence
- Webbed neck / pterygium colli