Chromosome 17q11.2 deletion syndrome, 1.4-mb

Preferred Label : Chromosome 17q11.2 deletion syndrome, 1.4-mb;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Neurofibromatosis 1 microdeletion syndrome; Nf1 microdeletion syndrome; Van asperen syndrome;

Description : Approximately 5 to 20% of all patients with neurofibromatosis type I (162200) carry a heterozygous deletion of approximately 1.4 Mb involving the NF1 gene and contiguous genes lying in its flanking regions (Riva et al., 2000; Jenne et al., 2001), which is caused by nonallelic homologous recombination of NF1 repeats A and C (Dorschner et al., 2000). The 'NF1 microdeletion syndrome' is often characterized by a more severe phenotype than that observed in the majority of NF1 patients. In particular, patients with NF1 microdeletion often show variable facial dysmorphism, mental retardation, developmental delay, an excessive number of early-onset neurofibromas (Venturin et al., 2004), and an increased risk for malignant peripheral nerve sheath tumors (De Raedt et al., 2003).;

Inheritance : Autosomal dominant;

Molecular basis : A contiguous gene deletion syndrome involving deletion of 1.4Mb on chromosome 17q11.2;

Neoplasia : Optic glioma (19%); Malignant peripheral nerve sheath tumors (21%);

Prefixed ID : #613675;

Details

Origin ID

613675;

UMLS CUI

C5401456;

Automatic exact mappings (from CISMeF team)
- NF1 microduplication syndrome [MeSH concept]
- NF1 microduplication syndrome [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- 17q11 deletion [ICD-11 More detail]
- 17q11 deletion syndrome (disorder) [SNOMED CT concept]
- 17q11 microdeletion syndrome [ORDO Disease]
- NF1 microdeletion syndrome [MeSH Supplementary Concept]
- chromosome 17q11.2 deletion syndrome [DO Concept]
DO Cross reference
- chromosome 17q11.2 deletion syndrome [DO Concept]
False automatic mappings
- 17q11.2 microduplication syndrome [ORDO Disease]
HPO term(s)
- Abnormal heart morphology [HPO term]
- Abnormality of cardiovascular system morphology [HPO term]
- Attention deficit hyperactivity disorder [HPO term]
- Autosomal dominant inheritance [HPO term]
- Axillary freckling [HPO term]
- Bone cyst [HPO term]
- Bone cysts [HPO term]
- Broad neck [HPO term]
- Cafe-au-lait spot [HPO term]
- Coarse facial features [HPO term]
- Cognitive impairment [HPO term]
- Complex cardiac malformations [HPO term]
- Delayed speech and language development [HPO term]
- Epilepsy [HPO term]
- Facial asymmetry [HPO term]
- Focal T2 hyperintense basal ganglia lesion [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hearing impairment [HPO term]
- Hypertelorism [HPO term]
- Hypotonia [HPO term]
- Inguinal freckling [HPO term]
- Intellectual disability [HPO term]
- Joint hypermobility [HPO term]
- Large hands [HPO term]
- Large hands and feet [HPO term]
- Lisch nodules [HPO term]
- Long foot [HPO term]
- Low-set ears [HPO term]
- Macrocephaly [HPO term]
- Morphological abnormality of the central nervous system [HPO term]
- Morphological central nervous system abnormality [HPO term]
- Neurofibromas [HPO term]
- Neurofibrosarcoma [HPO term]
- Optic nerve glioma [HPO term]
- Overgrowth [HPO term]
- Pectus excavatum [HPO term]
- Pes cavus [HPO term]
- Plexiform neurofibroma [HPO term]
- Scoliosis [HPO term]
- Seizure [HPO term]
- Short attention span [HPO term]
- Specific learning disability [HPO term]
- Speech difficulties [HPO term]
- Spinal neurofibromas [HPO term]
- Sporadic [HPO term]
- Strabismus [HPO term]
- Subcutaneous neurofibromas [HPO term]
- Tall stature [HPO term]
ORDO concept(s)
- 17q11 microdeletion syndrome [ORDO Disease]
- Neurofibromatosis type 1 [ORDO Disease]
- Overgrowth-macrocephaly-facial dysmorphism syndrome [ORDO Disease]
See also inter- (CISMeF)
- NF1 microdeletion syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- 17q11 deletion [ICD-11 More detail]
- 17q11 deletion syndrome (disorder) [SNOMED CT concept]
- 17q11 microdeletion syndrome [ORDO Disease]
- 17q11.2 microduplication syndrome [ORDO Disease]
- NF1 microdeletion syndrome [MeSH Supplementary Concept]
- NF1 microdeletion syndrome [MeSH concept]
- chromosome 17q11.2 deletion syndrome [DO Concept]

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