Publicerad: 2024-05-13

Table 9 Bone marrow failure

Subtable 1 Fanconi anemia
Subtable 2 Dyskeratosis congenita
No subtable

Subtable 1 Fanconi anemia
Disease	Genetic defect	Inheri-tance	ICD10	SLIPI:s riktlinjer
Ataxia Pancytopenia Syndrome	SAMD9L	AD	D61.89
Fanconi Anemia Type A	FANCA	AR	D61.89
Fanconi Anemia Type B	FANCB	XLR	D61.89
Fanconi Anemia Type C	FANCC	AR	D61.89
Fanconi Anemia Type D1	BRCA2	AR	D61.89
Fanconi Anemia Type D2	FANCD2	AR	D61.89
Fanconi Anemia Type E	FANCE	AR	D61.89
Fanconi Anemia Type F	FANCF	AR	D61.89
Fanconi Anemia Type G	XRCC9	AR	D61.89
Fanconi Anemia Type I	FANCI	AR	D61.89
Fanconi Anemia Type J	BRIP1	AR	D61.89
Fanconi Anemia Type L	FANCL	AR	D61.89
Fanconi Anemia Type M	FANCM	AR	D61.89
Fanconi Anemia Type N	PALB2	AR	D61.89
Fanconi Anemia Type O	RAD51C	AR	D61.89
Fanconi Anemia Type P	SLX4	AR	D61.89
Fanconi Anemia Type Q	ERCC4	AR	D61.89
Fanconi Anemia Type R	RAD51	AR	D61.89
Fanconi Anemia Type S	BRCA1	AR	D61.89
Fanconi Anemia Type T	UBE2T	AR	D61.89
Fanconi Anemia Type U	XRCC2	AR	D61.89
Fanconi Anemia Type V	MAD2L2	AR	D61.89
Fanconia Anemia Type W	RFWD3	AR	D61.89
SAMD9	SAMD9	AD (GOF)	D46.9
Subtable 2 Dyskeratosis congenita
Disease	Genetic defect	Inheri-tance	ICD10	SLIPI:s riktlinjer
BMFS1 (SRP72-deficiency)	SRP72	AD	D61.89
BMFS2 (Hebo deficiency)	ERCC6L2	AR	D61.89
BMFS5	TP53	AD	D61.89
Coats plus syndrome due to CTC1 deficiency	CTC1	AR	D82.8
Coats plus syndrome due to STN1 deficiency	STN1	AR	D82.8
DKCA1	TERC	AD	D61.89
DKCA2	TERT	AD	D61.89
DKCA3	TINF2	AD	D61.89
DKCA4	RTEL1	AD	D61.89
DKCA5	TINF2	AD	D61.89
DKCA6	ACD	AD	D61.89
DKCB1	NOLA3	AR	D61.89
DKCB2	NOLA2	AR	D61.89
DKCB3	WRAP53	AR	D61.89
DKCB4	TERT	AR	D61.89
DKCB5	RTEL1	AR	D61.89
DKCB6	PARN	AR	D61.89
DKCB7	ACD	AR	D61.89
DKCX1	DKC1	XL	D61.89
No subtable
Disease	Genetic defect	Inheri-tance	ICD10	SLIPI:s riktlinjer
BMFS3 HSP40 homolog	DNAJC21	AR	D61.89
EVI1, MECOM deficiency	MECOM

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Table 9 Bone marrow failure

Subtable 1 Fanconi anemia

Subtable 2 Dyskeratosis congenita

No subtable