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
371	Prolactin-producing pituitary gland adenoma Autosomal dominant	Endocrine disorders	LRP2 LDL receptor related protein 2	Reports Updated as of Jan 04, 2024	PubMed
372	Prolidase deficiency Autosomal recessive	Metabolic disorders	PEPD peptidase D	Reports Updated as of Jan 04, 2024	PubMed
373	Protein-losing enteropathy Autosomal recessive	Gastrointestinal disorders	CD55 CD55 molecule (Cromer blood group)	Reports Updated as of Mar 09, 2023	PubMed
374	Proteus syndrome Somatic mutation	Bone disorders	AKT1 AKT serine/threonine kinase 1	Reports Updated as of Jan 04, 2024	PubMed
375	Proximal myopathy with extrapyramidal signs Autosomal recessive	Neuromuscular disorders	MICU1 mitochondrial calcium uptake 1	Reports Updated as of Jan 04, 2024	PubMed
376	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome Autosomal dominant	Bone disorders	COMP cartilage oligomeric matrix protein	Reports Updated as of Jan 04, 2024	PubMed
377	Pseudopseudohypoparathyroidism Autosomal dominant	Endocrine disorders	GNAS GNAS complex locus	Reports Updated as of Jan 04, 2024	PubMed
378	Pseudoxanthoma elasticum Autosomal recessive	Skin disorders	ABCC6 ATP binding cassette subfamily C member 6	Reports Updated as of Jan 04, 2024	PubMed
379	Pulmonary alveolar microlithiasis Autosomal recessive	Respiratory disorders	SLC34A2 solute carrier family 34 member 2	Reports Updated as of Jan 04, 2024	PubMed
380	Purine-nucleoside phosphorylase deficiency Autosomal recessive	Metabolic disorders	PNP purine nucleoside phosphorylase	Reports Updated as of Jan 04, 2024	PubMed

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