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Fanconi anemia (type A-W): Mutations in the FANCA gene and about 20 other genes. NK cells decreased, B-T cells possibly normal. CNS, skeletal, skin, cardiac, GI tract or urogenital abnormalities, chromosomal fragility.
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SAMD9 defect: GOF mutation in SAMD9 gene lead to intrauterine growth retardation, gonadal abnormalities, NNR insufficiency, MDS with chromosome 7 aberrations, susceptibility to infection, enteropathy, asplenia (MIRAGE) as well as familial normophosphatemic tumor calcinosis (see SAMD9 gene below.
- Ataxia pancytopenia syndrome: Autosomal dominant GOF mutation in AMD9L gene lead to immunodeficiency and neurological abnormalities.
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Dyskeratosis congenita: Autosomal recessive/dominant mutations in the DKC1 gene and approximately 12 other genes. Clinically bone marrow failure, pulmonary and hepatic fibrosis, nail dystrophy, leukoplakia, reticular skin pigmentation, microcephaly, neurological deficits.
- BMFS1 (SRP72 defect): Autosomal dominant mutations in the SRP72 gene cause bone marrow failure and inner ear deafness.
- BMFS5 defect: Autosomal dominant mutation in TP53 gene lead to erythroid hypoplasia and B cell defects.
- Coats plus syndrome: Autosomal recessive mutation in SCN1 or CTC1 gene lead to intrauterine growth retardation, premature aging, pancytopenia, hypocellular bone marrow, GI bleeding due to vascular ectasia, intracranial calcifications.