Disease #00433 (NBIA1 (neurodegeneration, with brain iron accumulation, type 1 (NBIA)), OMIM:234200)

Official abbreviation NBIA1
Name neurodegeneration, with brain iron accumulation, type 1 (NBIA)
OMIM ID 234200
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 4
Phenotype entries for this disease 4
Associated with 1 gene PANK2
Associated tissues -
Disease features -
Remarks -
Date created 2014-06-24 21:43:21 +02:00 (CEST)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

4 entries on 1 page. Showing entries 1 - 4.
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00017613 - PubMed: Dusi 2014 2-generation family, 1 affected, unaffected heterozygous carrier parents/sibs F yes Italy - - - - - NBIA1 birth weight: 3,850 g; No history of perinatal complications;Normal early developmental milestones; 24 months: parents reported gait difficulties and persistent toe walking; 6y: poor academic ability;15y: Normal general physical examination; Mild oro-mandibular dystonia with dysarthria; spastic dystonic paraparesis; still able to walk unaided; IQ ¼ 49; 20y:unable to ambulate independently; 25y: severe spastic bradykinetic-rigid syndrome associated with mild dystonia with distal areflexia in the lower limbs COASY ADAM8, BZRAP1, CACNB1, COASY, EVC2, FBXO47, FOCAD, GUCA2A, IFNW1, LRP1B, SEPT4 14 1 Marianne Vos (LOVD-team)
00017614 - PubMed: Dusi 2014 2-generation family, 1 affected, unaffected heterozygous carrier parents M no Italy Italian - - - - NBIA1 born at term of uneventful pregnancy;1y Normal psychomotor development; walking delayed as a result of instability and toe walking; 3y: spastic tetraparesis; moderate mental and language impairment; Disease was progressive, worsening of motor signs in lower limbs; progressive involvement of upper limbs and oro-mandibular region;15y:No independent ambulation; 17y: mild oro-mandibular dystonia with dysarthria; spastic-dystonic tetraparesis with prevalent involvement of lower limbs; parkinsonian features (rigidity and abnormal postural reflexes); Distal amyotrophia; areflexia with pes cavus; Severe cognitive impairment (total IQ < 40); Obsessive-compulsive behavior; complex motor tics; 19y-unchanged neurological picture; Motor axonal neuropathy more prominent in the lower limbs COASY COASY 2 1 Marianne Vos (LOVD-team)
00100446 - - - M yes Saudi Arabia - - - - - NBIA1 - MANEAL, OSTM1 MANEAL, OSTM1 2 1 Bader Alhaddad
00409136 169458 - - F likely - - - - - - NBIA1 Global developmental delay, Gait disturbance, Abnormal cerebral morphology, Gait imbalance, Postural instability, Frequent falls, Falls, Functional motor deficit, Neurodevelopmental delay, Abnormality of movement PANK2 PANK2 1 1 Andreas Laner
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