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NDCAMA
MCID: NRD068
MIFTS: 24
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Neurodegeneration, Early-Onset, with Choreoathetoid Movements and Microcytic Anemia (NDCAMA)
Categories:
Genetic diseases, Mental diseases, Neuronal diseases
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Aliases & Classifications for Neurodegeneration, Early-Onset, with Choreoathetoid Movements and...
MalaCards integrated aliases for Neurodegeneration, Early-Onset, with Choreoathetoid Movements and Microcytic Anemia:
Name: Neurodegeneration, Early-Onset, with Choreoathetoid Movements and Microcytic Anemia
57
73
28
5
38
Characteristics:Inheritance:
Autosomal recessive 57
OMIM®:57 (Updated 08-Dec-2022)
Miscellaneous:
onset in infancy progressive disorder anemia is refractory to iron supplementation two unrelated patients have been reported (last curated november 2019) HPO:30
neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia:
Onset and clinical course progressive Classifications: |
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UniProtKB/Swiss-Prot: 73 An autosomal recessive disorder characterized by severe neurological and extra-neurological manifestations. Clinical features include early-onset global developmental delay, absent speech, dystonia, spasticity, choreoathetoid movement disorder, seizures, and microcytic hypochromic anaemia unresponsive to iron supplementation. MalaCards based summary: Neurodegeneration, Early-Onset, with Choreoathetoid Movements and Microcytic Anemia, is also known as ndcama. An important gene associated with Neurodegeneration, Early-Onset, with Choreoathetoid Movements and Microcytic Anemia is IREB2 (Iron Responsive Element Binding Protein 2). Affiliated tissues include bone marrow, eye and bone, and related phenotypes are seizure and spasticity OMIM®: 57 Early-onset neurodegeneration with choreoathetoid movements and microcytic anemia (NDCAMA) is an autosomal recessive disorder characterized by severe psychomotor developmental abnormalities, abnormal movements, and functional iron deficiency (Costain et al., 2019). (618451) (Updated 08-Dec-2022) |
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Symptoms & Phenotypes for Neurodegeneration, Early-Onset, with Choreoathetoid Movements and...
Human phenotypes related to Neurodegeneration, Early-Onset, with Choreoathetoid Movements and Microcytic Anemia:30 (show all 19)
Symptoms via clinical synopsis from OMIM®:57 (Updated 08-Dec-2022)Clinical features from OMIM®:618451 (Updated 08-Dec-2022) |
Drugs & Therapeutics for Neurodegeneration, Early-Onset, with Choreoathetoid Movements and...
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Organs/tissues related to Neurodegeneration, Early-Onset, with Choreoathetoid Movements and Microcytic Anemia:
MalaCards :
Bone Marrow,
Eye,
Bone
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Articles related to Neurodegeneration, Early-Onset, with Choreoathetoid Movements and Microcytic Anemia:
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Genes related to Neurodegeneration, Early-Onset, with Choreoathetoid Movements and Microcytic Anemia (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Neurodegeneration, Early-Onset, with Choreoathetoid Movements and Microcytic Anemia:5
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Search
GEO
for disease gene expression data for Neurodegeneration, Early-Onset, with Choreoathetoid Movements and Microcytic Anemia.
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