Congenital disorder of deglycosylation 1

Preferred Label : Congenital disorder of deglycosylation 1;

Symbol : CDDG1;

CISMeF acronym : CDDG; CDG1V;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : CDG1V; Congenital disorder of glycosylation, type iv; Congenital disorder of deglycosylation; CDDG;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the N-glycanase 1 gene (NGLY1, 610661.0001);

Laboratory abnormalities : Increased blood lactate (in some patients); Elevated alpha-fetoprotein (in some patients);

Prefixed ID : #615273;

Détails

Origin ID

615273;

UMLS CUI

C3808991;

Currated CISMeF NLP mapping
- Alacrimia-choreoathetosis-liver dysfunction syndrome [ORDO Disease]
- Carbohydrate-Deficient Glycoprotein Syndrome [NCIt concept]
- Carbohydrate-deficient glycoprotein syndrome (disorder) [SNOMED CT concept]
- Congenital Disorder of Deglycosylation [NCIt concept]
- Congenital disorder of glycosylation [MedDRA Preferred Term]
- NGLY1 deficiency [MeSH Supplementary Concept]
- NGLY1-deficiency [DO Concept]
- congenital disorders of glycosylation [MeSH concept]
- congenital disorders of glycosylation [MeSH Descriptor]
DO Cross reference
- NGLY1-deficiency [DO Concept]
Genes related to phenotype
- N-glycanase 1 [OMIM gene]
HPO term(s)
- Abnormality of movement [HPO term]
- Action tremor [HPO term]
- Alacrima [HPO term]
- Anhidrosis [HPO term]
- Anteverted nares [HPO term]
- Athetosis [HPO term]
- Autosomal recessive inheritance [HPO term]
- Brachycephaly [HPO term]
- Central sleep apnea [HPO term]
- Chorea [HPO term]
- Corneal opacity [HPO term]
- Corneal ulceration [HPO term]
- Decreased CSF 5-hydroxyindolacetic acid [HPO term]
- Decreased CSF albumin concentration [HPO term]
- Decreased CSF/serum albumin ratio [HPO term]
- Decreased body weight [HPO term]
- Decreased sensory nerve conduction velocity [HPO term]
- Delayed myelination [HPO term]
- Dilation of Virchow-Robin spaces [HPO term]
- Dysmetria [HPO term]
- Elevated alpha-fetoprotein [HPO term]
- Elevated brain choline level by MRS [HPO term]
- Elevated hepatic transaminase [HPO term]
- Facial hypotonia [HPO term]
- Fever [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hepatomegaly [HPO term]
- High myoinositol in brain by MRS [HPO term]
- Hyperhidrosis [HPO term]
- Hyperkinetic movements [HPO term]
- Hypertelorism [HPO term]
- Hyporeflexia [HPO term]
- Hypotonia [HPO term]
- Impaired oral bolus formation [HPO term]
- Impaired oropharyngeal swallow response [HPO term]
- Increased serum lactate [HPO term]
- Infantile onset [HPO term]
- Intrinsic hand muscle atrophy [HPO term]
- Involuntary movements [HPO term]
- Microcephaly [HPO term]
- Myoclonus [HPO term]
- Narrow face [HPO term]
- Oral-pharyngeal dysphagia [HPO term]
- Osteoporosis [HPO term]
- Pain [HPO term]
- Pain insensitivity [HPO term]
- Peripheral neuropathy [HPO term]
- Polyneuropathy [HPO term]
- Ptosis [HPO term]
- Recurrent respiratory infections [HPO term]
- Reduced brain N-acetyl aspartate level by MRS [HPO term]
- Reduced brain glutamine level by MRS [HPO term]
- Respiratory distress [HPO term]
- Restlessness [HPO term]
- Scoliosis [HPO term]
- Seizure [HPO term]
- Short foot [HPO term]
- Single transverse palmar crease [HPO term]
- Small hand [HPO term]
- Strabismus [HPO term]
- Suck reflex [HPO term]
- Sunken cheeks [HPO term]
ORDO concept(s)
- Alacrimia-choreoathetosis-liver dysfunction syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Alacrimia-choreoathetosis-liver dysfunction syndrome [ORDO Disease]
- Congenital Disorder of Deglycosylation [NCIt concept]
- N-glycanase 1 congenital disorder of deglycosylation (disorder) [SNOMED CT concept]
- NGLY1 deficiency [MeSH Supplementary Concept]
- NGLY1-deficiency [DO Concept]
Validated automatic mappings to BTNT
- N-glycanase 1 congenital disorder of deglycosylation (disorder) [SNOMED CT concept]

Position du mot-clé dans l'(les) arborescence(s) :

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