NDCAMA
MCID: NRD068
MIFTS: 17

Neurodegeneration, Early-Onset, with Choreoathetoid Movements and Microcytic Anemia (NDCAMA)

Categories: Genetic diseases, Neuronal diseases

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 74 6
Ndcama 57 74

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
progressive disorder
anemia is refractory to iron supplementation
one patient has been reported (last curated may 2019)


Classifications:



External Ids:

OMIM 57 618451
MedGen 42 CN258816

Summaries for Neurodegeneration, Early-Onset, with Choreoathetoid Movements and...

UniProtKB/Swiss-Prot : 74 Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia: 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 eye.

OMIM : 57 Early-onset neurodegeneration with choreoathetoid movements and microcytic anemia (NDCAMA) is an autosomal recessive disorder characterized by severe psychomotor developmental abnormalities and functional iron deficiency (Costain et al., 2019). (618451)

Related Diseases for Neurodegeneration, Early-Onset, with Choreoathetoid Movements and...

Symptoms & Phenotypes for Neurodegeneration, Early-Onset, with Choreoathetoid Movements and...

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Ears:
low-set ears

Neurologic Central Nervous System:
seizures
spasticity
hyperreflexia
chorea
global developmental delay
more
Hematology:
microcytic anemia
hypochromic anemia

Abdomen Gastrointestinal:
tube feeding

Head And Neck Eyes:
ptosis
poor eye contact
retinal dysfunction

Head And Neck Face:
short philtrum
orofacial dyskinesia
midface hypoplasia

Muscle Soft Tissue:
poor head control
hypotonia, axial
hypertonia, limbs

Laboratory Abnormalities:
normal serum transferrin
normal total iron
mitochondrial abnormalities due to functional iron deficiency
impaired activities of mitochondrial respiratory chain complexes

Clinical features from OMIM:

618451

Drugs & Therapeutics for Neurodegeneration, Early-Onset, with Choreoathetoid Movements and...

Search Clinical Trials , NIH Clinical Center for Neurodegeneration, Early-Onset, with Choreoathetoid Movements and Microcytic Anemia

Genetic Tests for Neurodegeneration, Early-Onset, with Choreoathetoid Movements and...

Anatomical Context for Neurodegeneration, Early-Onset, with Choreoathetoid Movements and...

MalaCards organs/tissues related to Neurodegeneration, Early-Onset, with Choreoathetoid Movements and Microcytic Anemia:

41
Eye

Publications for Neurodegeneration, Early-Onset, with Choreoathetoid Movements and...

Articles related to Neurodegeneration, Early-Onset, with Choreoathetoid Movements and Microcytic Anemia:

# Title Authors PMID Year
1
Absence of iron-responsive element-binding protein 2 causes a novel neurodegenerative syndrome. 8 71
30915432 2019
2
Iron misregulation and neurodegenerative disease in mouse models that lack iron regulatory proteins. 8
25771171 2015
3
Tempol-mediated activation of latent iron regulatory protein activity prevents symptoms of neurodegenerative disease in IRP2 knockout mice. 8
18685102 2008
4
Targeted deletion of the gene encoding iron regulatory protein-2 causes misregulation of iron metabolism and neurodegenerative disease in mice. 8
11175792 2001

Variations for Neurodegeneration, Early-Onset, with Choreoathetoid Movements and...

ClinVar genetic disease variations for Neurodegeneration, Early-Onset, with Choreoathetoid Movements and Microcytic Anemia:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 IREB2 NM_001320943.2(IREB2): c.*2843G> T single nucleotide variant Pathogenic 15:78768575-78768575 15:78476233-78476233

Expression for Neurodegeneration, Early-Onset, with Choreoathetoid Movements and...

Search GEO for disease gene expression data for Neurodegeneration, Early-Onset, with Choreoathetoid Movements and Microcytic Anemia.

Pathways for Neurodegeneration, Early-Onset, with Choreoathetoid Movements and...

GO Terms for Neurodegeneration, Early-Onset, with Choreoathetoid Movements and...

Sources for Neurodegeneration, Early-Onset, with Choreoathetoid Movements and...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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