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Familial isolated hyperparathyroidism
2 OMIM references -
2 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
ICF syndrome
2 OMIM references -
2 associated genes
22 signs/symptoms
Familial isolated hyperparathyroidism
ICF syndrome

CDC73
(UniProt - OMIM)
 DNMT3B
(UniProt - OMIM)
MEN1
(UniProt - OMIM)
 ZBTB24
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
CDC73
(0.63)
DNMT3B


Citations in the biomedical literature:


Familial isolated hyperparathyroidism
CDC73 MEN1
ICF syndrome
DNMT3B ZBTB24



Familial isolated hyperparathyroidism
ICF syndrome

Synonym(s):
- FIHPT
Synonym(s):
- Immunodeficiency - centromeric instability - facial anomalies
Classification (Orphanet):
- Rare endocrine disease
- Rare genetic disease
- Rare oncologic disease
Classification (Orphanet):
- Rare genetic disease
- Rare immune disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal recessive
External references:
2 OMIM references -
No MeSH references
External references:
2 OMIM references -
No MeSH references
ICF syndrome

Very frequent
- Agammaglobulinemia / hypogammaglobulinemia / B-cell deficiency
- Autosomal recessive inheritance
- Fragile chromosomal site (other than Xq28)
- Immunodeficiency / increased susceptibility to infections / recurrent infections
- Micrognathia / retrognathia / micrognathism / retrognathism
- Repeat respiratory infections
- Short stature / dwarfism / nanism

Frequent
- Anaemia
- Communicating hydrocephaly
- Depressed nasal bridge
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Lymphopenia
- Macrocephaly / macrocrania / megalocephaly / megacephaly
- Malabsorption / chronic diarrhea / steatorrhea
- Polynuclear cells / neutrophils anomalies / neutropenia
- T-cell deficiency / cellular immunity deficiency

Occasional
- Epicanthic folds
- Flat face
- Hypertelorism
- Low set ears / posteriorly rotated ears
- Macroglossia / tongue protrusion / proeminent / hypertrophic
- Umbilical hernia


Familial isolated hyperparathyroidism

(no data available)