GenTIGS

List of monogenic disorders and their associated genes
Monogenic disorders arise from mutations in a single gene, but variations within that gene or in multiple genes can also lead to similar phenotypes, typically following Mendelian inheritance patterns associated with specific genetic changes.

View information by inheritance mode

S.No.	Genetic Disorders Modes of inheritance	Category	Gene symbol	Indian context	Links
461	Protein-losing enteropathy Autosomal recessive	Gastrointestinal disorders	CD55 CD55 molecule (Cromer blood group)	Reports Updated as of Mar 09, 2023	PubMed
462	Proteus syndrome Somatic mutation	Bone disorders	AKT1 AKT serine/threonine kinase 1	Reports Updated as of Jan 04, 2024	PubMed
463	Proximal myopathy with extrapyramidal signs Autosomal recessive	Neuromuscular disorders	MICU1 mitochondrial calcium uptake 1	Reports Updated as of Jan 04, 2024	PubMed
464	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome Autosomal dominant	Bone disorders	COMP cartilage oligomeric matrix protein	Reports Updated as of Jan 04, 2024	PubMed
465	Pseudopseudohypoparathyroidism Autosomal dominant	Endocrine disorders	GNAS GNAS complex locus	Reports Updated as of Jan 04, 2024	PubMed
466	Pseudoxanthoma elasticum Autosomal recessive	Skin disorders	ABCC6 ATP binding cassette subfamily C member 6	Reports Updated as of Jan 04, 2024	PubMed
467	Pulmonary alveolar microlithiasis Autosomal recessive	Respiratory disorders	SLC34A2 solute carrier family 34 member 2	Reports Updated as of Jan 04, 2024	PubMed
468	Purine-nucleoside phosphorylase deficiency Autosomal recessive	Metabolic disorders	PNP purine nucleoside phosphorylase	Reports Updated as of Jan 04, 2024	PubMed
469	Pyknodysostosis Autosomal recessive	Bone disorders	CTSK cathepsin K	Reports Updated as of Jan 04, 2024	PubMed
470	Pyle metaphyseal dysplasia Autosomal recessive	Bone disorders	SFRP4 secreted frizzled related protein 4	Reports Updated as of Jan 04, 2024	PubMed

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