Disease #05519 (AOA (ataxia-oculomotor apraxia (AOA)))

Official abbreviation AOA
Name ataxia-oculomotor apraxia (AOA)
OMIM ID -
Inheritance -
Individuals reported having this disease 14
Phenotype entries for this disease 15
Associated with 4 genes APTX, PIK3R5, PNKP, SETX
Associated tissues -
Disease features -
Remarks -


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14 entries on 1 page. Showing entries 1 - 14.
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00206904 25728773-Fam1Pat1 PubMed: Bras 2015 2-generation family, affected brother/sister, unaffected heterozygous carrier parents M - Portugal - - 0 - - AOA see paper; … PNKP PNKP 2 2 Johan den Dunnen
00206905 25728773-Fam1Pat2 PubMed: Bras 2015 sister F - Portugal - - 0 - - AOA see paper; … PNKP PNKP 2 1 Johan den Dunnen
00206906 25728773-Fam2Pat3 PubMed: Bras 2015 3-generation family, 1 affected, unaffected heterozygous carrier parents F yes Portugal - - 0 - - AOA see paper; … PNKP PNKP 1 1 Johan den Dunnen
00206907 25728773-Fam3Pat4 PubMed: Bras 2015 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Portugal - - 0 - - AOA see paper; … PNKP PNKP 2 1 Johan den Dunnen
00206908 25728773-Fam4Pat5 PubMed: Bras 2015 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Portugal - - 0 - - AOA see paper; … PNKP PNKP 2 1 Johan den Dunnen
00206909 25728773-Fam5Pat6 PubMed: Bras 2015 3-generation family, 1 affected, unaffected heterozygous carrier parents F yes Portugal - - 0 - - AOA see paper; … PNKP PNKP 1 1 Johan den Dunnen
00206910 25728773-Fam6Pat7 PubMed: Bras 2015 4-generation family, 1 affected, unaffected heterozygous carrier parents F yes Portugal - - 0 - - AOA see paper; … PNKP PNKP 2 1 Johan den Dunnen
00206911 25728773-Fam7Pat8 PubMed: Bras 2015 2-generation family, affected brother/sister, unaffected heterozygous carrier parents F yes Portugal - - 0 - - AOA see paper; … PNKP PNKP 1 2 Johan den Dunnen
00206912 25728773-Fam7Pat9 PubMed: Bras 2015 brother M yes Portugal - - 0 - - AOA see paper; … PNKP PNKP 1 1 Johan den Dunnen
00206913 25728773-Fam8Pat10 PubMed: Bras 2015 3-generation family, affected sister/brother, unaffected heterozygous carrier parents F - Portugal - - 0 - - AOA see paper; … PNKP PNKP 1 2 Johan den Dunnen
00206914 25728773-Fam8Pat11 PubMed: Bras 2015 brother M - Portugal - - 0 - - AOA see paper; … PNKP PNKP 1 1 Johan den Dunnen
00397578 FamPat1 - family, 2 affected brothers, unaffected heterozygous carrier mother, 3 sisters and brother M yes Egypt Egyptian - 0 - - AOA Developmental history: The patient is a product of normal pregnancy and delivery (dizygotic twin but the other is twin is completely normal). Normal developmental milestones Family history: History of consanguineous marriage (cousins) The patient has one brother with similar illness started at the age of 8. His brother developed incoordination during walking and frequent fall on the ground. He had nystagmus (end-gaze). History of present illness: The patient developed an insidious illness in the form of progressive incoordination. He dysarthria (staccato speech), nystagmus and change in the foot shape in the form of flat foot. No history suggestive of peripheral nerve affection, no sensory system affection, no sphincteric disturbance, no cognitive deterioration. No cranial nerve involvement. Normal power. Neurological examination: Limb girdle ataxia Nystagmus Staccato speech Normal sensation Flat foot Wide base staggering gaze Normal planter response, Developmental history: The patient is a product of normal pregnancy and delivery (dizygotic twin but the other is twin is completely normal). Normal developmental milestones Family history: History of consanguineous marriage (cousins) The patient has one brother: 9 years old), with similar illness started at the age of 8. His brother developed incoordination during walking and frequent fall on the ground. He had nystagmus (end-gaze). History of present illness: The patient developed an insidious illness in the form of progressive incoordination. He dysarthria (staccato speech), nystagmus and change in the foot shape in the form of flat foot. No history suggestive of peripheral nerve affection, no sensory system affection, no sphincteric disturbance, no cognitive deterioration. No cranial nerve involvement. Normal power. Neurological examination: Limb girdle ataxia Nystagmus Staccato speech Normal sensation Flat foot Wide base staggering gaze Normal planter response APTX APTX 1 2 Sherifa Ahmed Hamed
00404123 - - - M yes Egypt - - - - - AOA 32-y male with progressive ataxia, ocular apraxia, peripheral neuropathy and bilateral Babinski sign SETX SETX 1 4 Sherifa Ahmed Hamed
00404124 - - - M yes Egypt - - - - - AOA 18-y male with progressive ataxia and abnormal ocular eye movement. APTX APTX 1 3 Sherifa Ahmed Hamed
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