Disease | Genetic defect | Inheritance | OMIM | T cells | B cells | Other affected cells | Associated features |
Fanconi anemia type A | FA complementation group A (FANCA) | AR | 227650 | Normal to low | Normal to low | HSCs | Normal to low NK cells; CNS, skeletal, skin, cardiac, GI, and urogenital anomalies; increased chromosomal breakage |
Fanconi anemia type B | FA complementation group B (FANCB) | XLR | 300514 | Normal to low | Normal to low | HSCs | Normal to low NK cells; CNS, skeletal, skin, cardiac, GI, and urogenital anomalies; increased chromosomal breakage |
Fanconi anemia type C | FA complementation group C (FANCC) | AR | 227645 | Normal to low | Normal to low | HSCs | Normal to low NK cells; CNS, skeletal, skin, cardiac, GI, and urogenital anomalies; increased chromosomal breakage |
Fanconi anemia type D1 | BRCA2 DNA repair associated (BRCA2) | AR | 605724 | Normal to low | Normal to low | HSCs | Normal to low NK cells; CNS, skeletal, skin, cardiac, GI, and urogenital anomalies; increased chromosomal breakage |
Fanconi anemia type D2 | FA complementation group D2 (FANCD2) | AR | 227646 | Normal to low | Normal to low | HSCs | Normal to low NK cells; CNS, skeletal, skin, cardiac, GI, and urogenital anomalies; increased chromosomal breakage |
Fanconi anemia type E | FA complementation group E (FANCE) | AR | 600901 | Normal to low | Normal to low | HSCs | Normal to low NK cells; CNS, skeletal, skin, cardiac, GI, and urogenital anomalies; increased chromosomal breakage |
Fanconi anemia type F | FA complementation group F (FANCF) | AR | 603467 | Normal to low | Normal to low | HSCs | Normal to low NK cells; CNS, skeletal, skin, cardiac, GI, and urogenital anomalies; increased chromosomal breakage |
Fanconi anemia type G | FA complementation group G (FANCG) | AR | 614082 | Normal to low | Normal to low | HSCs | Normal to low NK cells; CNS, skeletal, skin, cardiac, GI, and urogenital anomalies; increased chromosomal breakage |
Fanconi anemia type I | FA complementation group I (FANCI) | AR | 609053 | Normal to low | Normal to low | HSCs | Normal to low NK cells; CNS, skeletal, skin, cardiac, GI, and urogenital anomalies; increased chromosomal breakage |
Fanconi anemia type J | BRCA1-interacting helicase 1 (BRIP1) | AR | 609054 | Normal to low | Normal to low | HSCs | Normal to low NK cells; CNS, skeletal, skin, cardiac, GI, and urogenital anomalies; increased chromosomal breakage |
Fanconi anemia type L | FA complementation group L (FANCL) | AR | 614083 | Normal to low | Normal to low | HSCs | Normal to low NK cells; CNS, skeletal, skin, cardiac, GI, and urogenital anomalies; increased chromosomal breakage |
Fanconi anemia type M | FA complementation group M (FANCM) | AR | 618096 | Normal to low | Normal to low | HSCs | Normal to low NK cells; CNS, skeletal, skin, cardiac, GI, and urogenital anomalies; increased chromosomal breakage |
Fanconi anemia type N | Partner and localizer of BRCA2 (PALB2) | AR | 610832 | Normal to low | Normal to low | HSCs | Normal to low NK cells; CNS, skeletal, skin, cardiac, GI, and urogenital anomalies; increased chromosomal breakage |
Fanconi anemia type O | RAD51 paralog C (RAD51C) | AR | 613390 | Normal to low | Normal to low | HSCs | Normal to low NK cells; CNS, skeletal, skin, cardiac, GI, and urogenital anomalies; increased chromosomal breakage |
Fanconi anemia type P | SLX4 structure-specific endonuclease subunit (SLX4) | AR | 613951 | Normal to low | Normal to low | HSCs | Normal to low NK cells; CNS, skeletal, skin, cardiac, GI, and urogenital anomalies; increased chromosomal breakage |
Fanconi anemia type Q | ERCC excision repair 4, endonuclease catalytic subunit (ERCC4) | AR | 615272 | Normal to low | Normal to low | HSCs | Normal to low NK cells; CNS, skeletal, skin, cardiac, GI, and urogenital anomalies; increased chromosomal breakage |
Fanconi anemia type R | RAD51 recombinase (RD51) | AR | 617244 | Normal to low | Normal to low | HSCs | Normal to low NK cells; CNS, skeletal, skin, cardiac, GI, and urogenital anomalies; increased chromosomal breakage |
Fanconi anemia type S | BRCA1 DNA repair associated (BRCA1) | AR | 617883 | Normal to low | Normal to low | HSCs | Normal to low NK cells; CNS, skeletal, skin, cardiac, GI, and urogenital anomalies; increased chromosomal breakage |
Fanconi anemia type T | Ubiquitin-conjugating enzyme E2 T (UBE2T) | AR | 616435 | Normal to low | Normal to low | HSCs | Normal to low NK cells; CNS, skeletal, skin, cardiac, GI, and urogenital anomalies; increased chromosomal breakage |
Fanconi anemia type U | X-ray repair cross complementing 2 (XRCC2) | AR | 617247 | Normal to low | Normal to low | HSCs | Normal to low NK cells; CNS, skeletal, skin, cardiac, GI, and urogenital anomalies; increased chromosomal breakage |
Fanconi anemia type V | Mitotic arrest-deficient 2-like 2 (MAD2L2) | AR | 617243 | Normal to low | Normal to low | HSCs | Normal to low NK cells; CNS, skeletal, skin, cardiac, GI, and urogenital anomalies; increased chromosomal breakage |
Fanconi anemia type W | Ring finger and WD repeat domain 3 (RFWD3) | AR | 617784 | Normal to low | Normal to low | HSCs | Normal to low NK cells; CNS, skeletal, skin, cardiac, GI, and urogenital anomalies; increased chromosomal breakage |
MIRAGE (myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, enteropathy) | Sterile alpha motif domain-containing 9 (SAMD9) | AD GOF | 617053 | Not reported | Not reported | HSCs, myeloid cells | Intrauterine growth retardation, gonadal abnormalities, adrenal failure, MDS with chromosome 7 aberrations, predisposition to infections, enteropathy, absent spleen |
Ataxia pancytopenia syndrome | Sterile alpha motif domain-containing 9-like (SAMD9L) | AD GOF | 611170 | Normal | Low | HSCs, myeloid cells | MDS, neurologic features |
Dyskeratosis congenita, XL (DKCX1) | Dyskerin pseudouridine synthase 1 (DKC1) | XL | 305000 | Normal to low | Normal to low | HSCs | Bone marrow failure, pulmonary and hepatic fibrosis, nail dystrophy, leukoplakia, reticulate skin pigmentation, microcephaly, neurodevelopmental delay |
Dyskeratosis congenita, AD 1 (DKCA1) | Telomerase RNA component (TERC) | AD | 127550 | Normal to low | Normal to low | HSCs | Bone marrow failure, pulmonary and hepatic fibrosis, nail dystrophy, leukoplakia, reticulate skin pigmentation, microcephaly, neurodevelopmental delay |
Dyskeratosis congenita, AD 2 (DKCA2) | Telomerase reverse transcriptase (TERT) | AD | 187270 | Normal to low | Normal to low | HSCs | Bone marrow failure, pulmonary and hepatic fibrosis, nail dystrophy, leukoplakia, reticulate skin pigmentation, microcephaly, neurodevelopmental delay |
Dyskeratosis congenita, AD 3 (DKCA3) | TERF1-interacting nuclear factor 2 (TINF2) | AD | 604319 | Normal to low | Normal to low | HSCs | Bone marrow failure, pulmonary and hepatic fibrosis, nail dystrophy, leukoplakia, reticulate skin pigmentation, microcephaly, neurodevelopmental delay |
Dyskeratosis congenita, AD 4 (DKCA4) | Regulator of telomere elongation helicase 1 (RTEL1) | AD | 616373 | Normal to low | Normal to low | HSCs | Bone marrow failure, pulmonary and hepatic fibrosis, nail dystrophy, leukoplakia, reticulate skin pigmentation, microcephaly, neurodevelopmental delay |
Dyskeratosis congenita, AD 5 (DKCA5) | TERF1-interacting nuclear factor 2 (TINF2) | AD | 268130 | Normal to low | Normal to low | HSCs | Bone marrow failure, pulmonary and hepatic fibrosis, nail dystrophy, leukoplakia, reticulate skin pigmentation, microcephaly, neurodevelopmental delay |
Dyskeratosis congenita, AD 6 (DKCA6) | ACD shelterin complex subunit and telomerase recruitment factor (ACD) | AD | 616553 | Normal to low | Normal to low | HSCs | Bone marrow failure, pulmonary and hepatic fibrosis, nail dystrophy, leukoplakia, reticulate skin pigmentation, microcephaly, neurodevelopmental delay |
Dyskeratosis congenita, AR 1 (DKCB1) | NOP10 ribonucleoprotein (NOP10) | AR | 224230 | Normal to low | Normal to low | HSCs | Bone marrow failure, pulmonary and hepatic fibrosis, nail dystrophy, leukoplakia, reticulate skin pigmentation, microcephaly, neurodevelopmental delay |
Dyskeratosis congenita, AR 2 (DKCB2) | NHP2 ribonucleoprotein (NHP2) | AR | 613987 | Normal to low | Normal to low | HSCs | Bone marrow failure, pulmonary and hepatic fibrosis, nail dystrophy, leukoplakia, reticulate skin pigmentation, microcephaly, neurodevelopmental delay |
Dyskeratosis congenita, AR 3 (DKCB3) | WD repeat-containing antisense to TP53 (WRAP53) | AR | 613988 | Normal to low | Normal to low | HSCs | Bone marrow failure, pulmonary and hepatic fibrosis, nail dystrophy, leukoplakia, reticulate skin pigmentation, microcephaly, neurodevelopmental delay |
Dyskeratosis congenita, AR 4 (DKCB4) | Telomerase reverse transcriptase (TERT) | AR | 613989 | Normal to low | Normal to low | HSCs | Bone marrow failure, pulmonary and hepatic fibrosis, nail dystrophy, leukoplakia, reticulate skin pigmentation, microcephaly, neurodevelopmental delay |
Dyskeratosis congenita, AR 5 (DKCB5) | Regulator of telomere elongation helicase 1 (RTEL1) | AR | 615190 | Normal to low | Low | HSCs | Nail dystrophy, leukoplakia, bone marrow failure, severe B cell immunodeficiency, intrauterine growth retardation, growth retardation, microcephaly, cerebellar hypoplasia, esophageal dysfunction |
Dyskeratosis congenita, AR 6 (DKCB6) | Poly(A)-specific ribonuclease (PARN) | AR | 616353 | Normal to low | Normal to low | HSCs | Developmental delay, microcephaly, cerebellar hypoplasia |
Dyskeratosis congenita, AR 7 (DKCB7) | ACD shelterin complex subunit and telomerase recruitment factor (ACD) | AR | 616553 | Normal to low | Normal to low | HSCs | Bone marrow failure, pulmonary and hepatic fibrosis, nail dystrophy, leukoplakia, reticulate skin pigmentation, microcephaly, neurodevelopmental delay |
Bone marrow failure syndrome 1 (BMFS1; SRP72 deficiency | Signal recognition particle 72 (SRP72) | AD | 602122 | Not applicable | Not applicable | Bone marrow failure and congenital nerve deafness | |
Bone marrow failure syndrome 2 (BMFS2) | ERCC excision repair 6-like 2 (ERCC6L2) | AR | 615667 | Not applicable | Not applicable | Bone marrow failure, learning difficulties, microcephaly | |
Bone marrow failure syndrome 5 (BMFS5) | Tumor protein p53 (TP53) | AD | 618165 | Not applicable | Low B cells | Erythroid hypoplasia, B cell deficiency | |
Coats plus syndrome | STN1 subunit of CST complex (STN1) | AR | 613128 | Normal | Normal | Intrauterine growth retardation, premature aging, pancytopenia, hypocellular bone marrow, GI hemorrhage due to vascular ectasia, intracranial calcification, abnormal telomeres | |
CST telomere replication complex component 1 (CTC1) | AR | 613129 | Not reported | Not reported | Intrauterine growth retardation, premature aging, pancytopenia, hypocellular bone marrow, GI hemorrhage due to vascular ectasia, intracranial calcification, abnormal telomeres | ||
MECOM deficiency | MDS1 and EVI1 complex locus (MECOM) | AD | 616738 | Not reported | B cell deficiency | Bone marrow failure, thrombocytopenia/pancytopenia, radioulnar synostosis, clinodactyly, cardiac and renal malformations |
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