Disease #02491 (acidosis, tubular, renal, proximal, with ocular abnormalities and mental retardation, OMIM:604278)

Official abbreviation -
Name acidosis, tubular, renal, proximal, with ocular abnormalities and mental retardation
OMIM ID 604278
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 13
Phenotype entries for this disease 13
Associated with 1 gene SLC4A4
Associated tissues -
Disease features -
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

13 entries on 1 page. Showing entries 1 - 13.
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00117565 - PubMed: Igarashi 2001 2-generation family, unaffected carrier parents - ? Japan - - - - - acidosis, tubular, renal, proximal, with ocular abnormalities and mental retardation renal tubular acidosis, proximal (pRTA); mental retardation, growth retardation, glaucoma, no evidence cataracts/band keratopathy SLC4A4 SLC4A4 2 2 Mark Parker
00117566 - - 2-generation family, unaffected carrier parents - yes Japan - - - - - acidosis, tubular, renal, proximal, with ocular abnormalities and mental retardation renal tubular acidosis, proximal (pRTA); mental retardation, growth retardation, glaucoma, cataracts, band keratopathy; elevated serum amylase; calcification of basal ganglia SLC4A4 SLC4A4 2 2 Mark Parker
00117567 - PubMed: Demirci 2006 patient adopted M ? United States - - - - - acidosis, tubular, renal, proximal, with ocular abnormalities and mental retardation renal tubular acidosis, proximal (pRTA); Motor and mental retardation, growth retardation, glaucoma, cataracts, and band keratopathy. Dental abnormalities. Migraines. SLC4A4 SLC4A4 19 1 Mark Parker
00117568 - - 2-generation family, 1 affected, 3 unaffected carriers F no United States Jewish - - - - acidosis, tubular, renal, proximal, with ocular abnormalities and mental retardation renal tubular acidosis, proximal (pRTA); growth retardation, glaucoma, and cataracts. Poor dentition. Normal intelligence. No specific mention of band keratopathy, but corneal clouding was evident. Also some evidence of respiratory acidosis (i.e. elevated pCO2). SLC4A4 SLC4A4 2 2 Mark Parker
00117569 - - 2-generation family, 1 affected, unaffected carrier parents M yes Japan - - - - - acidosis, tubular, renal, proximal, with ocular abnormalities and mental retardation renal tubular acidosis, proximal (pRTA); Growth retardation, cataracts, and band keratopathy. No specific mention of mental retardation or glaucoma. SLC4A4 SLC4A4 2 2 Mark Parker
00117570 - - 2-generation family, 1 affected, unaffected carrier parents F yes Japan - - - - - acidosis, tubular, renal, proximal, with ocular abnormalities and mental retardation renal tubular acidosis, proximal (pRTA); Growth retardation, cataracts, and band keratopathy. Normal intelligence and no glaucoma. SLC4A4 SLC4A4 2 2 Mark Parker
00117571 - - 2-generation family, unaffected carrier parents - no Japan - - - - - acidosis, tubular, renal, proximal, with ocular abnormalities and mental retardation renal tubular acidosis, proximal (pRTA); growth retardation, glaucoma, cataracts, band keratopathy; no mention mental retardation; migraines SLC4A4 SLC4A4 2 2 Mark Parker
00117572 - - 2-generation family, 1 affected, unaffected carrier parents F no China - - - - - acidosis, tubular, renal, proximal, with ocular abnormalities and mental retardation renal tubular acidosis, proximal (pRTA); Growth retardation, glaucoma, cataracts, and band keratopathy. Calcification of basal ganglia. No mention of mental retardation. SLC4A4 SLC4A4 2 2 Mark Parker
00117573 - - 2-generation family, 1 affected, unaffected carrier parents M yes - Europe, North; white - - - - acidosis, tubular, renal, proximal, with ocular abnormalities and mental retardation renal tubular acidosis, proximal (pRTA); Growth retardation, cataracts, band keratopathy. Dental abnormalities. Calcification of basal ganglia. Normal intelligence. No glaucoma, but elevated ocular pressure. Elevated serum lipase and amylase9. SLC4A4 SLC4A4 2 2 Mark Parker
00117574 - - 2-generation family, 1 affected, unaffected carrier parents F yes Japan - - - - - acidosis, tubular, renal, proximal, with ocular abnormalities and mental retardation renal tubular acidosis, proximal (pRTA); Motor and mental retardation, growth retardation, low weight, glaucoma, cataracts, band keratopathy, and calcification of basal ganglia (17). SLC4A4 SLC4A4 2 2 Mark Parker
00117575 - - 2-generation family, 1 affected, unaffected carrier parents F yes Japan - - - - - acidosis, tubular, renal, proximal, with ocular abnormalities and mental retardation renal tubular acidosis, proximal (pRTA); Growth retardation, glaucoma, cataracts. No specific mention of mental retardation or band keratopathy. Elevated serum amylase. Migraines(5). SLC4A4 SLC4A4 2 2 Mark Parker
00117576 - - 4-generation family, 2 affected sisters, 6 unaffected carriers F ? Japan - - - - - acidosis, tubular, renal, proximal, with ocular abnormalities and mental retardation renal tubular acidosis, proximal (pRTA); glaucoma, cataracts, band keratopathy, hemiplegic migraine, normal intelligence/stature, epilepsy, nausea SLC4A4 SLC4A4 2 4 Mark Parker
00117577 - - 4-generation family, 2 affected sisters, 6 unaffected carriers F ? Japan - - - - - acidosis, tubular, renal, proximal, with ocular abnormalities and mental retardation renal tubular acidosis, proximal (pRTA); SLC4A4 SLC4A4 2 1 Mark Parker
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