NDCAMA
MCID: NRD068
MIFTS: 22

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 73 29 6
Ndcama 57 73

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
progressive disorder
anemia is refractory to iron supplementation
two unrelated patients have been reported (last curated november 2019)


HPO:

31
neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset progressive


Classifications:



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

UniProtKB/Swiss-Prot : 73 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, and related phenotypes are spasticity and hyperreflexia

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 05-Mar-2021)

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

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

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

31 (show all 19)
# Description HPO Frequency HPO Source Accession
1 spasticity 31 HP:0001257
2 hyperreflexia 31 HP:0001347
3 eeg abnormality 31 HP:0002353
4 ptosis 31 HP:0000508
5 global developmental delay 31 HP:0001263
6 absent speech 31 HP:0001344
7 low-set ears 31 HP:0000369
8 microcytic anemia 31 HP:0001935
9 short philtrum 31 HP:0000322
10 dystonia 31 HP:0001332
11 midface retrusion 31 HP:0011800
12 babinski sign 31 HP:0003487
13 poor eye contact 31 HP:0000817
14 poor head control 31 HP:0002421
15 choreoathetosis 31 HP:0001266
16 hypochromic anemia 31 HP:0001931
17 orofacial dyskinesia 31 HP:0002310
18 delayed myelination 31 HP:0012448
19 seizure 31 HP:0001250

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Neurologic Central Nervous System:
spasticity
hyperreflexia
chorea
global developmental delay
absent speech
more
Head And Neck Ears:
low-set ears
anteverted ears
hearing loss (1 patient)

Head And Neck Face:
short philtrum
orofacial dyskinesia
midface hypoplasia

Abdomen Gastrointestinal:
feeding difficulties
tube feeding

Laboratory Abnormalities:
increased ferritin
normal serum transferrin
normal total iron
mitochondrial abnormalities due to functional iron deficiency
impaired activities of mitochondrial respiratory chain complexes (1 patient)

Head And Neck Eyes:
ptosis
optic atrophy
poor eye contact
horizontal nystagmus
exotropia
more
Hematology:
microcytic anemia
hypochromic anemia

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

Skin Nails Hair Hair:
thick hair
wiry hair

Immunology:
neutropenia, episodic

Clinical features from OMIM®:

618451 (Updated 05-Mar-2021)

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...

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

# Genetic test Affiliating Genes
1 Neurodegeneration, Early-Onset, with Choreoathetoid Movements and Microcytic Anemia 29 IREB2

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

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

40
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
IREB2-associated neurodegeneration. 57
31243445 2019
2
Absence of iron-responsive element-binding protein 2 causes a novel neurodegenerative syndrome. 57
30915432 2019
3
Iron misregulation and neurodegenerative disease in mouse models that lack iron regulatory proteins. 57
25771171 2015
4
Tempol-mediated activation of latent iron regulatory protein activity prevents symptoms of neurodegenerative disease in IRP2 knockout mice. 57
18685102 2008
5
Targeted deletion of the gene encoding iron regulatory protein-2 causes misregulation of iron metabolism and neurodegenerative disease in mice. 57
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 Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 IREB2 NM_004136.4(IREB2):c.1069G>T (p.Gly357Ter) SNV Likely pathogenic 633461 rs1566982116 15:78768575-78768575 15:78476233-78476233
2 IREB2 NM_004136.4(IREB2):c.1255C>T (p.Arg419Ter) SNV Likely pathogenic 633460 rs779567692 15:78770698-78770698 15:78478356-78478356
3 IREB2 NM_004136.4(IREB2):c.1329_1331del (p.Ser444del) Deletion Uncertain significance 694294 rs1596009225 15:78775691-78775693 15:78483349-78483351
4 IREB2 NM_004136.4(IREB2):c.2353G>A (p.Gly785Arg) SNV Uncertain significance 694293 rs1596016998 15:78786279-78786279 15:78493937-78493937

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
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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