NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2A

General Information (adopted from Orphanet):

Synonyms, Signs: NEUROAXONAL DYSTROPHY, INFANTILE
SEITELBERGER DISEASE
NEURODEGENERATION, PLA2G6-ASSOCIATED
NBIA2A
INAD
PLAN
INAD1
Number of Symptoms 34
OrphanetNr:
OMIM Id: 256600
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset: Infantile onset
[Omim]

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0001263) Global developmental delay 853 / 7739
2
 (HPO:0002376) Developmental regression 74 / 7739
3
 (HPO:0002267) Exaggerated startle response 42 / 7739
4
 (HPO:0001265) Hyporeflexia 208 / 7739
5
 (HPO:0000762) Decreased nerve conduction velocity 36 / 7739
6
 (HPO:0007256) Abnormal pyramidal signs 116 / 7739
7
 (HPO:0001315) Reduced tendon reflexes 160 / 7739
8
 (HPO:0001249) Intellectual disability 1089 / 7739
9
 (HPO:0001347) Hyperreflexia 363 / 7739
10
 (HPO:0001284) Areflexia 198 / 7739
11
 (HPO:0007034) Generalized hyperreflexia 33 / 7739
12
 (HPO:0001250) Seizures 1245 / 7739
13
 (HPO:0001251) Ataxia 413 / 7739
14
 (HPO:0002510) Spastic tetraplegia 54 / 7739
15
 (HPO:0002317) Unsteady gait 45 / 7739
16
 (HPO:0003324) Generalized muscle weakness 48 / 7739
17
 (HPO:0001324) Muscle weakness 859 / 7739
18
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
19
 (HPO:0001252) Muscular hypotonia 990 / 7739
20
 (HPO:0010547) Muscle flaccidity 466 / 7739
21
 (OMIM) High voltage, fast rhythms seen on EEG 1 / 7739
22
 (OMIM) Characteristic spheroids can be found in peripheral tissue, such as skin and conjunctiva 1 / 7739
23
 (HPO:0002059) Cerebral atrophy 171 / 7739
24
 (OMIM) Chronic denervation seen on EMG 2 / 7739
25
 (OMIM) Autonomic involvement may occur 1 / 7739
26
 (OMIM) Increased iron deposition in the basal ganglia 2 / 7739
27
 (OMIM) Axonal swelling or thickening 1 / 7739
28
 (HPO:0002529) Neuronal loss in central nervous system 37 / 7739
29
 (OMIM) Axonal 'spheroid' inclusions 1 / 7739
30
 (OMIM) Cerebellar atrophy with signal hyperintensity in the cerebellar cortex seen on T2-weighted MRI 1 / 7739
31
 (HPO:0001272) Cerebellar atrophy 197 / 7739
32
 (OMIM) Axonal dystrophy 1 / 7739
33
 (HPO:0002171) Gliosis 48 / 7739
34
 (OMIM) Thin optic chiasm 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Neurodegeneration with brain iron accumulation-2A is an autosomal recessive neurodegenerative disease characterized by onset in the first 2 years of life; it is also referred to as infantile neuroaxonal dystrophy (INAD). Pathologic findings include axonal swelling and spheroid ...
Clinical Description OMIM Seitelberger (1954) first described this infantile form of degenerative encephalopathy characterized pathologically by lipid storage in the brain. Visceral changes were described by Cowen and Olmstead (1963) and by Sandbank (1965). The changes in the brain are widespread ...
Molecular genetics OMIM Morgan et al. (2006) identified mutations in the PLA2G6 gene (603604) in 31 families with INAD and in the original family with Karak syndrome. They identified a total of 44 unique mutations.

Khateeb et al. (2006) ...