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
341	Proximal myopathy with extrapyramidal signs Autosomal recessive	Neuromuscular disorders	MICU1 mitochondrial calcium uptake 1	Reports Updated as of Jan 04, 2024	PubMed
342	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome Autosomal dominant	Bone disorders	COMP cartilage oligomeric matrix protein	Reports Updated as of Jan 04, 2024	PubMed
343	Pseudopseudohypoparathyroidism Autosomal dominant	Endocrine disorders	GNAS GNAS complex locus	Reports Updated as of Jan 04, 2024	PubMed
344	Pseudoxanthoma elasticum Autosomal recessive	Skin disorders	ABCC6 ATP binding cassette subfamily C member 6	Reports Updated as of Jan 04, 2024	PubMed
345	Pulmonary alveolar microlithiasis Autosomal recessive	Respiratory disorders	SLC34A2 solute carrier family 34 member 2	Reports Updated as of Jan 04, 2024	PubMed
346	Purine-nucleoside phosphorylase deficiency Autosomal recessive	Metabolic disorders	PNP purine nucleoside phosphorylase	Reports Updated as of Jan 04, 2024	PubMed
347	Pyknodysostosis Autosomal recessive	Bone disorders	CTSK cathepsin K	Reports Updated as of Jan 04, 2024	PubMed
348	Pyle metaphyseal dysplasia Autosomal recessive	Bone disorders	SFRP4 secreted frizzled related protein 4	Reports Updated as of Jan 04, 2024	PubMed
349	Pyridoxal phosphate-responsive seizures Autosomal recessive	Metabolic disorders	PNPO pyridoxamine 5'-phosphate oxidase	Reports Updated as of Jan 04, 2024	PubMed
350	Pyridoxine-dependent epilepsy Autosomal recessive	Metabolic disorders	ALDH7A1 aldehyde dehydrogenase 7 family member A1	Reports Updated as of Jan 04, 2024	PubMed

First «33 34 35 36 37 »Last 44 pages