Neutropenia, severe congenital, 4, autosomal recessive

Preferred Label : Neutropenia, severe congenital, 4, autosomal recessive;

Symbol : SCN4;

CISMeF acronym : SCN4;

Type : Phenotype, molecular basis known;

Included titles and symbols : Dursun syndrome; Pulmonary arterial hypertension, leukopenia, and atrial septal defect;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the glucose-6-phosphatase, catalytic subunit 3 gene (G6PC3, 611045.0001);

Prefixed ID : #612541;

Details

Origin ID

612541;

UMLS CUI

C2751630;

Automatic exact mappings (from CISMeF team)
- G6PC3 wt Allele [NCIt concept]
Broader ORDO disease(s)
- Autosomal dominant severe congenital neutropenia [ORDO Disease]
Currated CISMeF NLP mapping
- Autosomal recessive severe congenital neutropaenia due to G6PC3 deficiency [ICD-11 More detail]
- Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [ORDO Disease]
- Autosomal recessive severe congenital neutropenia due to glucose-6-phosphatase catalytic subunit 3 deficiency (disorder) [SNOMED CT concept]
- Dursun syndrome [ICD-11 More detail]
- Dursun syndrome [ORDO Disease]
- Severe Congenital Neutropenia Type 4, Autosomal Recessive [NCIt concept]
- autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [Disease (Nov.)]
- dursun syndrome [MeSH concept]
- neutropenia, severe congenital, autosomal recessive 4 [MeSH concept]
- neutropenia, severe congenital, autosomal recessive 4 [MeSH Supplementary Concept]
- severe congenital neutropenia 4 [DO Concept]
Genes related to phenotype
- Glucose-6-phosphatase, catalytic, 3 [OMIM gene]
HPO term(s)
- Anemia [HPO term]
- Atrial septal defect [HPO term]
- Autosomal recessive inheritance [HPO term]
- Broad thumb [HPO term]
- Cleft palate [HPO term]
- Clinodactyly [HPO term]
- Cor triatriatum [HPO term]
- Cryptorchidism [HPO term]
- Erythroid hypoplasia [HPO term]
- Failure to thrive [HPO term]
- Global developmental delay [HPO term]
- Growth delay [HPO term]
- Hearing impairment [HPO term]
- Hepatomegaly [HPO term]
- High palate [HPO term]
- Hydronephrosis [HPO term]
- Hypoplasia of the thymus [HPO term]
- Leukopenia [HPO term]
- Lymphopenia [HPO term]
- Microcephaly [HPO term]
- Mitral regurgitation [HPO term]
- Monocytosis [HPO term]
- Neutropenia [HPO term]
- Patent ductus arteriosus [HPO term]
- Pectus carinatum [HPO term]
- Pulmonary arterial hypertension [HPO term]
- Pulmonic stenosis [HPO term]
- Recurrent bacterial infections [HPO term]
- Recurrent respiratory infections [HPO term]
- Respiratory insufficiency [HPO term]
- Sepsis [HPO term]
- Single transverse palmar crease [HPO term]
- Splenomegaly [HPO term]
- Thrombocytopenia [HPO term]
- Varicose veins [HPO term]
- Wide nasal bridge [HPO term]
ORDO concept(s)
- Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [ORDO Disease]
- Dursun syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [ORDO Disease]
- Autosomal recessive severe congenital neutropenia due to glucose-6-phosphatase catalytic subunit 3 deficiency (disorder) [SNOMED CT concept]
- Dursun syndrome [ICD-11 More detail]
- Dursun syndrome [MedDRA Preferred Term]
- Severe Congenital Neutropenia Type 4, Autosomal Recessive [NCIt concept]
- dursun syndrome [MeSH concept]
- neutropenia, severe congenital, autosomal recessive 4 [MeSH Supplementary Concept]
- neutropenia, severe congenital, autosomal recessive 4 [MeSH concept]

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