Chromosome 1p36 deletion syndrome, distal

Preferred Label : Chromosome 1p36 deletion syndrome, distal;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Monosomy 1p36 syndrome;

Description : The constitutional deletion of chromosome 1p36 results in a syndrome with multiple congenital anomalies and mental retardation (Shapira et al., 1997). Monosomy 1p36 is the most common terminal deletion syndrome in humans, occurring in 1 in 5,000 births (Shaffer and Lupski, 2000; Heilstedt et al., 2003).;

Inheritance : Isolated cases;

Molecular basis : A contiguous gene syndrome caused by deletion of 2.2 to 10.6Mb of terminal 1p36;

Laboratory abnormalities : Partial terminal deletion of short arm of chromosome 1 (1p36);

Prefixed ID : #607872;

Details

Origin ID

607872;

UMLS CUI

C1842870;

Currated CISMeF NLP mapping
- 1p36 Deletion Syndrome [NCIt concept]
- 1p36 deletion [ICD-11 More detail]
- 1p36 deletion syndrome [ORDO Disease]
- Chromosome 1p36 deletion syndrome (disorder) [SNOMED CT concept]
- chromosome 1p36 deletion syndrome [DO Concept]
- chromosome 1p36 deletion syndrome [Disease (Nov.)]
- chromosome 1p36 deletion syndrome [MeSH concept]
- chromosome 1p36 deletion syndrome [MeSH Supplementary Concept]
DO Cross reference
- chromosome 1p36 deletion syndrome [DO Concept]
HPO term(s)
- 11 pairs of ribs [HPO term]
- Abducens palsy [HPO term]
- Abnormal external genitalia [HPO term]
- Abnormal lung lobation [HPO term]
- Abnormality of the anus [HPO term]
- Abnormality of the hairline [HPO term]
- Agenesis of corpus callosum [HPO term]
- Aggressive behavior [HPO term]
- Aortic root aneurysm [HPO term]
- Asymmetry of the ears [HPO term]
- Atrial septal defect [HPO term]
- Bicuspid aortic valve [HPO term]
- Bifid ribs [HPO term]
- Bifid uvula [HPO term]
- Blepharophimosis [HPO term]
- Brachycephaly [HPO term]
- Brachydactyly [HPO term]
- Camptodactyly [HPO term]
- Camptodactyly of finger [HPO term]
- Cataract [HPO term]
- Cerebral cortical atrophy [HPO term]
- Cleft upper lip [HPO term]
- Clinodactyly of the 5th finger [HPO term]
- Conductive hearing impairment [HPO term]
- Congenital hypothyroidism [HPO term]
- Constipation [HPO term]
- Cryptorchidism [HPO term]
- Deeply set eye [HPO term]
- Delayed CNS myelination [HPO term]
- Delayed closure of the anterior fontanelle [HPO term]
- Delayed skeletal maturation [HPO term]
- Delayed speech and language development [HPO term]
- Depressed nasal bridge [HPO term]
- Depressed nasal ridge [HPO term]
- Dilatation of lateral cerebral ventricles [HPO term]
- Dilated cardiomyopathy [HPO term]
- Dilation of lateral ventricles [HPO term]
- Downslanted palpebral fissures [HPO term]
- Dysphagia [HPO term]
- Ebstein anomaly of the tricuspid valve [HPO term]
- Ectopic kidney [HPO term]
- Epicanthus [HPO term]
- Epilepsy [HPO term]
- Epileptic spasm [HPO term]
- Feeding difficulties in infancy [HPO term]
- Flattened nasal bridge [HPO term]
- Frontal bossing [HPO term]
- Gastroesophageal reflux [HPO term]
- Global developmental delay [HPO term]
- Growth delay [HPO term]
- Hearing impairment [HPO term]
- High palate [HPO term]
- High-arched palate [HPO term]
- Hip dysplasia [HPO term]
- Horizontal eyebrow [HPO term]
- Hydrocephalus [HPO term]
- Hypermetropia [HPO term]
- Hyperphagia [HPO term]
- Hypertelorism [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Hypospadias [HPO term]
- Hypothyroidism [HPO term]
- Hypotonia [HPO term]
- Hypsarrhythmia [HPO term]
- Impaired social interactions [HPO term]
- Infantile spasms [HPO term]
- Intellectual disability [HPO term]
- Isolated cases [HPO term]
- Leukoencephalopathy [HPO term]
- Long philtrum [HPO term]
- Low-set ears [HPO term]
- Malar flattening [HPO term]
- Metatarsus adductus [HPO term]
- Microcephaly [HPO term]
- Microtia [HPO term]
- Midface retrusion [HPO term]
- Morphological abnormality of the central nervous system [HPO term]
- Myopia [HPO term]
- Neonatal hypotonia [HPO term]
- Noncompaction cardiomyopathy [HPO term]
- Nystagmus [HPO term]
- Obesity [HPO term]
- Oppositional defiant disorder [HPO term]
- Optic atrophy [HPO term]
- Optic atrophy, congenital [HPO term]
- Optic disc coloboma [HPO term]
- Optic disc pallor [HPO term]
- Oral cleft [HPO term]
- Pachygyria [HPO term]
- Patent ductus arteriosus [HPO term]
- Patent foramen ovale [HPO term]
- Pes cavus [HPO term]
- Pointed chin [HPO term]
- Polymicrogyria [HPO term]
- Polyphagia [HPO term]
- Posteriorly rotated ears [HPO term]
- Prominent forehead [HPO term]
- Rib fusion [HPO term]
- Scoliosis [HPO term]
- Seizure [HPO term]
- Self-mutilation [HPO term]
- Sensorineural hearing impairment [HPO term]
- Short 5th finger [HPO term]
- Short feet [HPO term]
- Short foot [HPO term]
- Sporadic [HPO term]
- Strabismus [HPO term]
- Submucous cleft hard palate [HPO term]
- Submucous cleft lip/palate [HPO term]
- Synophrys [HPO term]
- Tetralogy of Fallot [HPO term]
- Thickened helices [HPO term]
- Thin corpus callosum [HPO term]
- Upslanted palpebral fissure [HPO term]
- Ventricular septal defect [HPO term]
- Visual impairment [HPO term]
- Wide anterior fontanel [HPO term]
- Wide nasal bridge [HPO term]
ORDO concept(s)
- 1p36 deletion syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- 1p36 Deletion Syndrome [NCIt concept]
- 1p36 deletion [ICD-11 More detail]
- 1p36 deletion syndrome [ORDO Disease]
- 1p36 deletion syndrome [MedDRA Preferred Term]
- Chromosome 1p36 deletion syndrome (disorder) [SNOMED CT concept]
- chromosome 1p36 deletion syndrome [MeSH Supplementary Concept]
- chromosome 1p36 deletion syndrome [MeSH concept]
- chromosome 1p36 deletion syndrome [DO Concept]
- chromosome 1p36 deletion syndrome [Disease (Nov.)]

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