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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
35 signs/symptoms
FTH1-related iron overload
Johanson-Blizzard syndrome

FTH1 UBR1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
FTH1
(0.63)
UBR1



Citations in the biomedical literature:


FTH1-related iron overload
FTH1
Johanson-Blizzard syndrome
UBR1



FTH1-related iron overload
Johanson-Blizzard syndrome

Synonym(s):
- FTH1-associated iron overload

Synonym(s):
(no synonyms)

Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare hepatic disease
Classification (Orphanet):
- Rare abdominal surgical disease
- Rare developmental defect during embryogenesis
- Rare endocrine disease
- Rare genetic disease
- Rare neurologic disease
- Rare skin disease

Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: no data available
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: any age
Type of inheritance: autosomal recessive

External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: C535880

Johanson-Blizzard syndrome

Very frequent
- Abnormal implantation of hair
- Alopecia
- Anomalies of teeth and dentition
- Autosomal recessive inheritance
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Intrauterine growth retardation
- Malabsorption / chronic diarrhea / steatorrhea
- Pancreatic failure / exocrine pancreas disease
- Short stature / dwarfism / nanism
- Short / small nose
- Structural anomalies of the pancreas
- Thin / hypoplastic ala nasi

Frequent
- Anaemia
- Anodontia / oligodontia / hypodontia
- Complete / partial microdontia
- Defect / anomaly of lacrimal system
- Delayed bone age
- Delayed dentition / eruption of teeth / lack of eruption of teeth
- Hypoproteinemia
- Imperforate anus / rectum atresia / agenesis / recto-vaginal / vesical / perineal fistula
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Sensorineural deafness / hearing loss
- Uterine / uterus / Fallopian tubes anomalies

Occasional
- Cardiac septal defect
- Congenital cardiac anomaly / malformation / cardiopathy
- Cutaneous edema
- Death in infancy
- Dextrocardia / abnormal heart position / cardiac heterotaxia / situs inversus
- Diabetes mellitus
- Hypospadias / epispadias / bent penis
- Hypotonia
- Megaureter / hydronephrosis / pyeloureteral junction syndrome
- Microcephaly
- Micropenis / small penis / agenesis
- Small / triangular nares / nostrils


FTH1-related iron overload

(no data available)