Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia

Preferred Label : Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia;

Symbol : CAGSSS;

CISMeF acronym : CAGSSS;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the isoleucyl-tRNA synthetase 2 gene (IARS2, 612801.0001);

Prefixed ID : #616007;

Details

Origin ID

616007;

UMLS CUI

C4014942;

Automatic exact mappings (from CISMeF team)
- Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- Cataract, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, skeletal dysplasia syndrome (disorder) [SNOMED CT concept]
Genes related to phenotype
- Isoleucyl-trna synthetase 2 [OMIM gene]
HPO term(s)
- Abnormal vertebral morphology [HPO term]
- Autosomal recessive inheritance [HPO term]
- Brachydactyly [HPO term]
- Cataract [HPO term]
- Central adrenal insufficiency [HPO term]
- Cerebral cortical atrophy [HPO term]
- Congenital hip dislocation [HPO term]
- Decreased response to growth hormone stimulation test [HPO term]
- Deeply set eye [HPO term]
- Depressed nasal bridge [HPO term]
- Distal sensory impairment [HPO term]
- Esotropia [HPO term]
- Flat forehead [HPO term]
- Flexion contracture [HPO term]
- Generalized hypotonia [HPO term]
- Genu valgum [HPO term]
- Global developmental delay [HPO term]
- Horizontal nystagmus [HPO term]
- Hyperlordosis [HPO term]
- Hyporeflexia [HPO term]
- Hypsarrhythmia [HPO term]
- Keratoconjunctivitis sicca [HPO term]
- Long philtrum [HPO term]
- Mandibular prognathia [HPO term]
- Metaphyseal irregularity [HPO term]
- Midface retrusion [HPO term]
- Motor delay [HPO term]
- Nystagmus [HPO term]
- Osteopenia [HPO term]
- Pes planus [HPO term]
- Prominent forehead [HPO term]
- Ptosis [HPO term]
- Scoliosis [HPO term]
- Sensorimotor neuropathy [HPO term]
- Sensorineural hearing impairment [HPO term]
- Sensory neuropathy [HPO term]
- Short stature [HPO term]
- Spinal canal stenosis [HPO term]
- Spondyloepimetaphyseal dysplasia [HPO term]
- Strabismus [HPO term]
- Tapered finger [HPO term]
- Thick eyebrow [HPO term]
- Thin vermilion border [HPO term]
ORDO concept(s)
- Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Cataract, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, skeletal dysplasia syndrome (disorder) [SNOMED CT concept]

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