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1p36 deletion syndrome
1 OMIM reference -
4 associated genes
72 connected diseases
90 signs/symptoms
Disease Type of connection
Familial isolated dilated cardiomyopathy
Left ventricular noncompaction
Shprintzen-Goldberg syndrome
Generalized epilepsy with febrile seizures-plus context
Juvenile myoclonic epilepsy
Familial thoracic aortic aneurysm and aortic dissection
Acute promyelocytic leukemia
Aneurysm - osteoarthritis syndrome
Familial pancreatic carcinoma
Acute basophilic leukemia
Generalized juvenile polyposis / juvenile polyposis coli
Hereditary hemorrhagic telangiectasia
Myhre syndrome
Acrocallosal syndrome
Greig cephalopolysyndactyly syndrome
Pallister-Hall syndrome
Polysyndactyly, bilateral
Polysyndactyly, unilateral
Postaxial polydactyly type A, bilateral
Postaxial polydactyly type A, unilateral
Postaxial polydactyly type B, bilateral
Postaxial polydactyly type B, unilateral
Atypical Rett syndrome
Intellectual deficit, X-linked - psychosis - macroorchidism
Rett syndrome
Severe neonatal-onset encephalopathy with microcephaly
Trisomy Xq28
X-linked non-syndromic intellectual deficit
Marshall-Smith syndrome
Sotos syndrome
Amyotrophic lateral sclerosis
Alobar holoprosencephaly
Combined pituitary hormone deficiencies, genetic forms
Lobar holoprosencephaly
Loeys-Dietz syndrome type 1
Microform holoprosencephaly
Midline interhemispheric variant of holoprosencephaly
Multiple keratoacanthoma, Ferguson-Smith type
Precursor T-cell acute lymphoblastic leukemia
Semilobar holoprosencephaly
Septopreoptic holoprosencephaly
Cowden syndrome
Proteus syndrome
Adrenocortical carcinoma
Autosomal dominant nonsyndromic sensorineural deafness type DFNA
B-cell chronic lymphocytic leukemia
BOR syndrome
Beta-thalassemia - X-linked thrombocytopenia
Branchio-otic syndrome
Congenital erythropoietic porphyria
Essential thrombocythemia
Estrogen resistance syndrome
Familial atrial fibrillation
Familial gastric cancer
Familial partial lipodystrophy due to AKT2 mutations
Familial retinoblastoma
Gastric linitis plastica
Giant cell glioblastoma
Gliosarcoma
Hyperinsulinism due to INSR deficiency
Hypoinsulinemic hypoglycemia and body hemihypertrophy
Insulin-resistance syndrome type A
Leprechaunism
Li-Fraumeni syndrome
Monosomy 13q14
Papilloma of choroid plexus
Precursor B-cell acute lymphoblastic leukemia
Rabson-Mendenhall syndrome
Spinocerebellar ataxia type 1
Thrombocytopenia with congenital dyserythropoietic anemia
Unilateral retinoblastoma
X-linked dyserythropoetic anemia with abnormal platelets and neutropenia
Synonym(s):
- Del(1)(p36)
- Deletion 1p36
- Deletion 1pter
- Monosomy 1p36
- Monosomy 1pter
- Subtelomeric 1p36 deletion
Classification (Orphanet):
- Rare cardiac disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
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
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
GABRD O14764137163
KCNAB2 Q13303601142
PRDM16 Q9HAZ2605557
SKI P12755164780
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
- Dilated cerebral ventricles without hydrocephaly
- EEG anomalies
- Enlargment of jaw / large jaw
- Eyebrows anomalies
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Hypotonia
- Insterstitial / subtelomeric microdeletion / deletion
- Intellectual deficit / mental / psychomotor retardation / learning disability
- 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
- 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
- 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
- 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