Disorders: P

Disorders Alternate Names Genes Inheritance Pattern
Palmoplantar Keratoderma and Woolly Hair PPKWH KANK2 autosomal recessive
Pantothenate Kinase-Associated Neurodegeneration Hallervorden-Spatz disease, NBIA1, pantothenate kinase deficiency, PKAN PANK2 autosomal recessive
Papillorenal Syndrome optic nerve coloboma with renal disease, renal-coloboma syndrome PAX2 autosomal dominant
Pearson Marrow-Pancreas Syndrome Pearson syndrome, sideroblastic anemia and exocrine pancreatic dysfunction mitochondria mitochondrial
PEHO Syndrome infantile cerebello-optic atrophy, PEHO, progressive encephalopathy with edema hypsarrhythmia and optic atrophy CCDC88A autosomal recessive
Pelizeaus-Merzbacher Disease HLD1, hypomyelinating leukodystrophy, PMD PLP1 X-linked recessive
Peroxisome Biogenesis Disorder 1A (Zellweger) cerebrohepatorenal syndrome, CHR syndrome, PBD1A, Zellweger spectrum disorder, Zellweger syndrome, ZWS PEX genes autosomal recessive
Peroxisome Biogenesis Disorder 1B (neonatal adrenoleukodystrophy) autosomal neonatal adrenoleukodystrophy, infantile phytanic acid storage disease, infantile Refsum disease, IRD, PBD1B, PEX12 PEX1, PEX2, PEX6 autosomal recessive
Peroxisome Biogenesis Disorder 3B (Infantile Refsum Disease) infantile phytanic acid storage disease, infantile Refsum disease, IRD, PBD3B PEX1, PEX12, PEX2, PEX26, PEX3 autosomal recessive
Peroxisomol Fatty Acyl-CoA Reductase 1 Disorder PFCRD FAR1 autosomal recessive
Perrault Syndrome PRLTS1 autosomal dominant, autosomal recessive
Persistent Hyperplastic Primary Vitreous persistent fetal vasculature, PFV, PHPV ATOH7 autosomal dominant?, autosomal recessive
Peters Anomaly CYP1B1, FOXC1, FOXE3, PAX6, PITX2 autosomal dominant, autosomal recessive
Peters-Plus Syndrome Krause-Kivlin syndrome, Peters anomaly with short-limb dwarfism B3GALTL autosomal recessive
Pfeiffer Syndrome acrocephalosyndactyly type V, ACS5 FGFR1, FGFR2 autosomal dominant
Pierson Syndrome microcoria-congenital nephrotic syndrome LAMB2 autosomal recessive
Pigmentary Retinopathy with Congenital Sideroblastic Anemia SIFD TRNT1 autosomal recessive
Pigmented Paravenous Chorioretinal Atrophy PPCRA CRB1 autosomal dominant
Pontocerebellar Hypoplasia 3 cerebellar atrophy with progressive microcephaly, CLAM, PCH with optic atrophy, PCH3 PCLO autosomal recessive
Potter Disease, Type I polycystic kidney disease, Potter syndrome type I autosomal recessive?
Progeroid Short Stature with Pigmented Nevi Mulvihill-Smith syndrome ? presumed autosomal recessive
Pseudohypoparathyroidism, Type 1A Albright hereditary osteodystrophy with multiple hormone resistance, PHP1A GNAS autosomal dominant
Pseudoxanthoma Elasticum Gronblad-Strandberg syndrome, PXE ABCC6 autosomal recessive
Pseudoxanthoma Elasticum-Like Disease PXE-like disorder with multiple coagulation factor deficiency ABCC6, GGCX autosomal recessive