ICF syndrome
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Immunodeficiency - centromeric instability - facial anomalies |
| Number of Symptoms | 38 |
| OrphanetNr: | 2268 |
| OMIM Id: |
242860
614069 |
| ICD-10: |
D84.8 |
| UMLs: |
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| MeSH: |
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| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | 50 cases [Orphanet] |
| Inheritance: |
Autosomal recessive [Orphanet] |
| Age of onset: |
Childhood [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
DNA repair defect other than combined T-cell and B-cell immunodeficiencies
-Rare genetic disease -Rare immune disease Syndromic agammaglobulinemia -Rare genetic disease -Rare immune disease |
Symptom Information:
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(HPO:0000158) | Macroglossia | Occasional [Orphanet] | 119 / 7739 | |||
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(HPO:0000277) | Abnormality of the mandible | Very frequent [Orphanet] | 394 / 7739 | |||
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(HPO:0000246) | Sinusitis | 73 / 7739 | ||||
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(HPO:0000463) | Anteverted nares | 305 / 7739 | ||||
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(HPO:0000272) | Malar flattening | 277 / 7739 | ||||
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(HPO:0000316) | Hypertelorism | Occasional [Orphanet] | 644 / 7739 | |||
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(HPO:0010808) | Protruding tongue | 28 / 7739 | ||||
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(HPO:0003196) | Short nose | 264 / 7739 | ||||
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(HPO:0000256) | Macrocephaly | Frequent [Orphanet] | 298 / 7739 | |||
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(HPO:0000286) | Epicanthus | Occasional [Orphanet] | 371 / 7739 | |||
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(HPO:0004469) | Chronic bronchitis | 17 / 7739 | ||||
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(HPO:0000347) | Micrognathia | 426 / 7739 | ||||
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(HPO:0005280) | Depressed nasal bridge | Frequent [Orphanet] | 381 / 7739 | |||
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(HPO:0012368) | Flat face | Occasional [Orphanet] | 106 / 7739 | |||
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(HPO:0000357) | Abnormal location of ears | Occasional [Orphanet] | 328 / 7739 | |||
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(HPO:0000369) | Low-set ears | 372 / 7739 | ||||
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(HPO:0001249) | Intellectual disability | 1089 / 7739 | ||||
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(HPO:0001537) | Umbilical hernia | Occasional [Orphanet] | 206 / 7739 | |||
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(HPO:0002014) | Diarrhea | 225 / 7739 | ||||
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(HPO:0002024) | Malabsorption | Frequent [Orphanet] | 142 / 7739 | |||
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(HPO:0001508) | Failure to thrive | 454 / 7739 | ||||
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(HPO:0004322) | Short stature | Very frequent [Orphanet] | 1232 / 7739 | |||
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(HPO:0001888) | Lymphopenia | Frequent [Orphanet] | 43 / 7739 | |||
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(HPO:0001903) | Anemia | Frequent [Orphanet] | 289 / 7739 | |||
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(HPO:0010701) | Abnormal immunoglobulin level | Very frequent [Orphanet] | 49 / 7739 | |||
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(HPO:0005403) | T lymphocytopenia | 10 / 7739 | ||||
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(HPO:0001874) | Abnormality of neutrophils | Frequent [Orphanet] | 47 / 7739 | |||
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(HPO:0004313) | Decreased antibody level in blood | 47 / 7739 | ||||
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(HPO:0003220) | Abnormality of chromosome stability | Very frequent [Orphanet] | 98 / 7739 | |||
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(HPO:0002090) | Pneumonia | 59 / 7739 | ||||
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(HPO:0002110) | Bronchiectasis | 73 / 7739 | ||||
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(HPO:0002205) | Recurrent respiratory infections | Very frequent [Orphanet] | 254 / 7739 | |||
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(HPO:0005352) | Severe T-cell immunodeficiency | Frequent [Orphanet] | 20 / 7739 | |||
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(HPO:0002721) | Immunodeficiency | 97 / 7739 | ||||
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(HPO:0010978) | Abnormality of immune system physiology | Very frequent [Orphanet] | 148 / 7739 | |||
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(HPO:0001334) | Communicating hydrocephalus | Frequent [Orphanet] | 32 / 7739 | |||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 | ||||
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(HPO:0012758) | Neurodevelopmental delay | Frequent [Orphanet] | 949 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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