OMIM table

Defect

Gen/

Locus ( nu in richtlijn)

OMIM gen

nummer

(*)

OMIM gen naam (afkorting)

OMIM

aandoening

Nummer

(#)

OMIM aandoening Naam (afkorting) (phenotype)

Lage ijzerbeschikbaarheid voor erythropoëse

TMPRSS6

609862

TRANSMEMBRANE PROTEASE, SERINE

6; TMPRSS6

206200

IRON -REFRACTORY IRON DEFICIENCY ANEMIA; IRIDA

Defect in ijzeracquisitie van voorkoper rode bloedcel

STEAP3

609671

SIX-TRANSMEMBRANE       EPITHELIAL

ANTIGEN OF PROSTATE 3; STEAP3

Niet

bekend

Werknaam: sideroblastaire anemie, autosomaal recessief

DMT1

600523

SOLUTE CARRIER FAMILY 11 (PROTON- COUPLED DIVALENT METAL ION TRANSPORTER), MEMBER 2; SLC11A2

206100

ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD (Anemia, hypochromic microcytic)

TF

190000

TRANSFERRIN; TF

209300

ATRANSFERRINEMIA

Defect in erythropoëse

Defect in heem en/of Fe-S

synthese

ALAS-2

301300

DELTA-AMINOLEVULINATE SYNTHASE

2; ALAS2

300751

ANEMIA, SIDEROBLASTIC, X-LINKED; XLSA (Anemia, sideroblastic, X-linked)

SLC25A38

610819

SOLUTE CARRIER FAMILY 25, MEMBER

38; SLC25A38

205950

ANEMIA, SIDEROBLASTIC, PYRIDOXINE- REFRACTORY, AUTOSOMAL RECESSIVE

GLRX5

609588

GLUTAREDOXIN 5; GLRX5

205950

ANEMIA, SIDEROBLASTIC, PYRIDOXINE- REFRACTORY, AUTOSOMAL RECESSIVE

ABCB7

300135

ATP-BINDING CASSETTE, SUBFAMILY B, MEMBER 7; ABCB7

301310

ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA; ASAT (Anemia, sideroblastic, with ataxias)

Onbekend defect in erythropoëse

MtDNA

mtDNA

557000

PEARSON MARROW-PANCREAS SYNDROME

CDAN1

607465

CODANIN 1; CDAN1

224120

DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE I

SEC23B

610512

S. CEREVISIAE, HOMOLOG OF, B;

SEC23B

224100

DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE II