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
331	Primary progressive non fluent aphasia	Neurodegenerative disorders	TBK1 TANK binding kinase 1	Reports Updated as of Jan 04, 2024	PubMed
332	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 Autosomal dominant	Metabolic disorders	RRM2B ribonucleotide reductase regulatory TP53 inducible subunit M2B	Reports Updated as of Jul 20, 2024	PubMed
333	Progressive myositis ossificans Autosomal dominant	Neuromuscular disorders	ACVR1 activin A receptor type 1	Reports Updated as of Feb 01, 2025	PubMed
334	Progressive osseous heteroplasia Autosomal dominant	Bone disorders	GNAS GNAS complex locus	Reports Updated as of Jan 04, 2024	PubMed
335	Progressive Pseudorheumatoid Dysplasia Autosomal recessive	Bone disorders	CCN6 cellular communication network factor 6	Reports Updated as of Sep 05, 2023	PubMed
336	Prolactin-producing pituitary gland adenoma Autosomal dominant	Endocrine disorders	LRP2 LDL receptor related protein 2	Reports Updated as of Jan 04, 2024	PubMed
337	Prolidase deficiency Autosomal recessive	Metabolic disorders	PEPD peptidase D	Reports Updated as of Jan 04, 2024	PubMed
338	Properdin deficiency X-linked dominant	Immune disorders	CFP complement factor properdin	Reports Updated as of Jan 04, 2024	PubMed
339	Protein-losing enteropathy Autosomal recessive	Gastrointestinal disorders	CD55 CD55 molecule (Cromer blood group)	Reports Updated as of Mar 09, 2023	PubMed
340	Proteus syndrome Somatic mutation	Bone disorders	AKT1 AKT serine/threonine kinase 1	Reports Updated as of Jan 04, 2024	PubMed

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