NDCAMA
MCID: NRD068
MIFTS: 24

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
Ndcama 57 73

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:



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

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)

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:

30 (show all 19)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizure 30 HP:0001250
2 spasticity 30 HP:0001257
3 hyperreflexia 30 HP:0001347
4 eeg abnormality 30 HP:0002353
5 ptosis 30 HP:0000508
6 global developmental delay 30 HP:0001263
7 absent speech 30 HP:0001344
8 low-set ears 30 HP:0000369
9 microcytic anemia 30 HP:0001935
10 short philtrum 30 HP:0000322
11 dystonia 30 HP:0001332
12 midface retrusion 30 HP:0011800
13 babinski sign 30 HP:0003487
14 poor eye contact 30 HP:0000817
15 poor head control 30 HP:0002421
16 choreoathetosis 30 HP:0001266
17 hypochromic anemia 30 HP:0001931
18 delayed myelination 30 HP:0012448
19 orofacial dyskinesia 30 HP:0002310

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
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 08-Dec-2022)

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 28 IREB2

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

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

MalaCards : Bone Marrow, Eye, Bone
ODiseA: Blood And Bone Marrow

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. 57 5
30915432 2019
2
IREB2-associated neurodegeneration. 57
31243445 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:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 IREB2 NM_004136.4(IREB2):c.1069G>T (p.Gly357Ter) SNV Likely Pathogenic
633461 rs1566982116 GRCh37: 15:78768575-78768575
GRCh38: 15:78476233-78476233
2 IREB2 NM_004136.4(IREB2):c.1255C>T (p.Arg419Ter) SNV Likely Pathogenic
633460 rs779567692 GRCh37: 15:78770698-78770698
GRCh38: 15:78478356-78478356
3 IREB2 NM_004136.4(IREB2):c.1329_1331del (p.Ser444del) DEL Uncertain Significance
694294 rs1596009225 GRCh37: 15:78775691-78775693
GRCh38: 15:78483349-78483351
4 IREB2 NM_004136.4(IREB2):c.2353G>A (p.Gly785Arg) SNV Uncertain Significance
694293 rs1596016998 GRCh37: 15:78786279-78786279
GRCh38: 15:78493937-78493937
5 IREB2 NM_004136.4(IREB2):c.629+22A>C SNV Benign
1300039 GRCh37: 15:78758853-78758853
GRCh38: 15:78466511-78466511
6 IREB2 NM_004136.4(IREB2):c.883+19A>G SNV Benign
1300040 GRCh37: 15:78764285-78764285
GRCh38: 15:78471943-78471943
7 IREB2 NM_004136.4(IREB2):c.1739T>C (p.Ile580Thr) SNV Benign
1300041 GRCh37: 15:78780104-78780104
GRCh38: 15:78487762-78487762
8 IREB2 NM_004136.4(IREB2):c.2472+12A>C SNV Benign
1300042 GRCh37: 15:78786410-78786410
GRCh38: 15:78494068-78494068
9 IREB2 NM_004136.4(IREB2):c.2616C>T (p.Ala872=) SNV Benign
1300043 GRCh37: 15:78789488-78789488
GRCh38: 15:78497146-78497146
10 IREB2 NM_004136.4(IREB2):c.2781+23T>C SNV Benign
1300044 GRCh37: 15:78789676-78789676
GRCh38: 15:78497334-78497334

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...

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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