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Hematologic Disorders

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Overview

From WUSTL Neuromuscular

Myopathies +5 Hemolytic Anemia PFK deficiency (GSD VII/Tarui): PFKM GSD XII: ALDOA TPI deficiency: TPI1 PGK deficiency: PGK1 IPEX: FOXP3 Immune: LHIM; Jo-1 Sideroblastic anemia Mitochondrial MLASA1: PUS1 MLASA2: YARS2 MLASA3: MT-ATP6 MC1DN30: NDUFB11 Perrault 4 (HLASA): LARS2 Pearson Marrow-Pancreas syndrome Also see Mitochondrial disease + Anemia Copper deficiency Childhood-onset spasticity with hyperglycinemia (SPAHGC): GLRX5 Sideroblastic anemia & Spinocerebellar ataxia: ABCB7 Macrocytic anemia COXPD 18: SFXN4 ODOAD: OPA1 Neutropenia Barth: TAZ CNM1: Dynamin 2 Eosinophilia LGMD 2A: CAPN3 Jo

Related Conditions

Shared genes
HEREDITARY MOTOR SENSORY NEUROPATHIES (HMSN; CMT)
DIFCMT1ATP6

External Resources

WUSTL Neuromuscular
Washington University Disease Center
PubMed
Biomedical Literature
GeneReviews
NCBI Expert-Authored Reviews
Orphanet
Portal for Rare Diseases
NORD
National Organization for Rare Disorders

Data sourced from the Washington University Neuromuscular Disease Center. For clinical use, always refer to primary sources.