Johanson-blizzard syndrome

Preferred Label : Johanson-blizzard syndrome;

Symbol : JBS;

CISMeF acronym : JBS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Nasal alar hypoplasia, hypothyroidism, pancreatic achylia, and congenital deafness;

Description : Johanson-Blizzard syndrome is an autosomal recessive disorder characterized by poor growth, mental retardation, and variable dysmorphic features, including aplasia or hypoplasia of the nasal alae, abnormal hair patterns or scalp defects, and oligodontia. Other features include hypothyroidism, sensorineural hearing loss, imperforate anus, and pancreatic exocrine insufficiency (summary by Al-Dosari et al., 2008).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the ubiquitin-protein ligase E3 component N-recognin 1 gene (UBR1, 605981.0001);

Laboratory abnormalities : Low total serum protein; Hypocalcemia;

Prefixed ID : #243800;

Details

Origin ID

243800;

UMLS CUI

C0175692;

Automatic exact mappings (from CISMeF team)
- Jacobsen syndrome [HGNC gene]
- Johanson-Blizzard syndrome [ICD-11 More detail]
Currated CISMeF NLP mapping
- Johanson Blizzard syndrome [MeSH concept]
- Johanson-Blizzard syndrome [MedDRA Preferred Term]
- Johanson-Blizzard syndrome [Disease (Nov.)]
- Johanson-Blizzard syndrome [DO Concept]
- Johanson-Blizzard syndrome [ORDO Disease]
- Johanson-Blizzard syndrome (disorder) [SNOMED CT concept]
- johanson blizzard syndrome [MeSH Supplementary Concept]
- johanson-blizzard syndrome [SNOMED Notion]
DO Cross reference
- Johanson-Blizzard syndrome [DO Concept]
Genes related to phenotype
- Ubiquitin-protein ligase e3 component n-recognin 1 [OMIM gene]
HPO term(s)
- Abnormality of the nail [HPO term]
- Absent lacrimal punctum [HPO term]
- Agenesis of permanent teeth [HPO term]
- Anal atresia [HPO term]
- Anasarca [HPO term]
- Anteriorly placed anus [HPO term]
- Aplasia cutis congenita of scalp [HPO term]
- Atrial septal defect [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cafe-au-lait spot [HPO term]
- Calvarial skull defect [HPO term]
- Cholestasis [HPO term]
- Clinodactyly of the 5th finger [HPO term]
- Clitoral hypertrophy [HPO term]
- Colonic diverticula [HPO term]
- Convex nasal ridge [HPO term]
- Cryptorchidism [HPO term]
- Death in childhood [HPO term]
- Delayed skeletal maturation [HPO term]
- Diabetes mellitus [HPO term]
- Dilated cardiomyopathy [HPO term]
- Exocrine pancreatic insufficiency [HPO term]
- Failure to thrive [HPO term]
- Fair hair [HPO term]
- Frontal upsweep of hair [HPO term]
- Generalized edema [HPO term]
- Generalized hypotonia [HPO term]
- Hepatic failure [HPO term]
- Hydronephrosis [HPO term]
- Hypocalcemia [HPO term]
- Hypoplasia of the primary teeth [HPO term]
- Hypoplastic nipples [HPO term]
- Hypospadias [HPO term]
- Hypothyroidism [HPO term]
- Hypotonia [HPO term]
- Increased VLDL cholesterol concentration [HPO term]
- Intellectual disability [HPO term]
- Intrauterine growth retardation [HPO term]
- Joint laxity [HPO term]
- Malabsorption [HPO term]
- Microcephaly [HPO term]
- Micropenis [HPO term]
- Midline skin dimples over anterior/posterior fontanelles [HPO term]
- Prenatal growth deficiency [HPO term]
- Rectovaginal fistula [HPO term]
- Sensorineural hearing impairment [HPO term]
- Septate vagina [HPO term]
- Short stature [HPO term]
- Single transverse palmar crease [HPO term]
- Situs inversus totalis [HPO term]
- Small for gestational age [HPO term]
- Sparse scalp hair [HPO term]
- Strabismus [HPO term]
- Underdeveloped nasal alae [HPO term]
- Urethrovaginal fistula [HPO term]
- Vascular dilatation [HPO term]
- Ventricular septal defect [HPO term]
- blonde, sparse scalp hair [HPO term]
ORDO concept(s)
- Johanson-Blizzard syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Johanson Blizzard syndrome [MeSH concept]
- Johanson-Blizzard syndrome [ORDO Disease]
- Johanson-Blizzard syndrome [MedDRA Preferred Term]
- Johanson-Blizzard syndrome [DO Concept]
- Johanson-Blizzard syndrome [Disease (Nov.)]
- Johanson-Blizzard syndrome (disorder) [SNOMED CT concept]
- johanson blizzard syndrome [MeSH Supplementary Concept]
- johanson-blizzard syndrome [SNOMED Notion]

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