ORPHA:2315
Johanson-Blizzard syndrome
Synonyms: JBS
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Infancy, Neonatal
- Status
- active
Johanson-Blizzard syndrome (JBS) is a multiple congenital anomaly characterized by exocrine pancreatic insufficiency, hypoplasia/aplasia of the nasal alae, hypodontia, sensorineural hearing loss, growth retardation, anal and urogenital malformations, and variable intellectual disability.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Johanson-Blizzard syndrome | JBS |
| fr | Syndrome de Johanson-Blizzard | |
| de | Johanson-Blizzard-Syndrom | = en |
| es | Síndrome de Johanson-Blizzard | |
| it | Sindrome di Johanson-Blizzard | |
| nl | Syndroom van Johanson-Blizzard | = en |
| pt | Síndrome Johanson-Blizzard | = en |
| pl | Zespół Johansona i Blizzarda | = en |
| cs | Johansonové-Blizzardův syndrom | Johanson-Blizzardův syndrom |
| uk | Синдром Йохансона-Блізард | = en |
| zh | Johanson-Blizzard综合征 | = en |
| tr | Johanson-Blizzard sendromu | = en |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 243800 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD27.0Y | NTBT | index | validated |
| MONDO | 0009479 | E | validated | |
| MeSH | C535880 | E | validated | |
| UMLS | C0175692 | E | validated | |
| GARD | 80 | E | validated | |
| MedDRA | 10074947 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (8):
- ORPHA:95495Disease associated with non-acquired combined pituitary hormone deficiency
rare genetic diseases; rare endocrine diseases - ORPHA:79373Ectodermal dysplasia syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare skin diseases - ORPHA:183570Genetic malformation syndrome with short stature
rare genetic diseases - ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:139021Malformation syndrome with short stature
rare developmental anomalies during embryogenesis - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:117573Syndromic anorectal malformation
rare developmental anomalies during embryogenesis; rare genetic diseases; rare abdominal surgical diseases; rare transplant-related disorders - ORPHA:177107Syndromic hypothyroidism
rare genetic diseases; rare endocrine diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| UBR1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:16808 | ENSG00000159459 | 605981 | 15q15.2 | ubiquitin protein ligase E3 component n-recognin 1 | 21931868[PMID]_16311597[PMID]_23652379[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 1 000 000 | 0.4 / 100 000 | Europe | Value and class | Validated | 16311597[PMID] |
| Point prevalence | Unknown | — | Europe | Class only | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
6
HPO phenotypes
37 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0010720 | Abnormal hair pattern | |
| HP:0000164 | Abnormality of the dentition | |
| HP:0001732 | Abnormality of the pancreas | |
| HP:0001596 | Alopecia | |
| HP:0001738 | Exocrine pancreatic insufficiency | |
| HP:0001508 | Failure to thrive | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0002024 | Malabsorption | |
| HP:0003196 | Short nose | |
| HP:0004322 | Short stature | |
| HP:0000430 | Underdeveloped nasal alae | |
| Frequent (79-30%) | ||
| HP:0010460 | Abnormality of the female genitalia | |
| HP:0000142 | Abnormality of the vagina | |
| HP:0001092 | Absent lacrimal punctum | |
| HP:0002023 | Anal atresia | |
| HP:0001903 | Anemia | |
| HP:0001545 | Anteriorly placed anus | |
| HP:0000684 | Delayed eruption of teeth | |
| HP:0002750 | Delayed skeletal maturation | |
| HP:0003075 | Hypoproteinemia | |
| HP:0001249 | Intellectual disability | |
| HP:0000632 | Lacrimation abnormality | |
| HP:0000691 | Microdontia | |
| HP:0000677 | Oligodontia | |
| HP:0000407 | Sensorineural hearing impairment | |
| Occasional (29-5%) | ||
| HP:0001671 | Abnormal cardiac septum morphology | |
| HP:0030680 | Abnormal cardiovascular system morphology | |
| HP:0005288 | Abnormality of the nares | |
| HP:0001522 | Death in infancy | |
| HP:0001651 | Dextrocardia | |
| HP:0000819 | Diabetes mellitus | |
| HP:0000969 | Edema | |
| HP:0000126 | Hydronephrosis | |
| HP:0008736 | Hypoplasia of penis | |
| HP:0000047 | Hypospadias | |
| HP:0001252 | Hypotonia | |
| HP:0000252 | Microcephaly | |
Run the differential on the 11 obligate / very frequent terms
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2315
- This record as JSON: /data/d/2315.json