GenTIGS

List of monogenic disorders and their associated genes(Heterogeneity and Homogeneity)
Monogenic disorders arise from mutations in a single gene, but variations within that gene or in any one across of 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
321	Hyperphenylalaninemia due to tetrahydrobiopterin deficiency Autosomal recessive	Metabolic disorders	GCH1 GTP cyclohydrolase 1	Reports Updated as of Nov 30, 2023	PubMed
322	Hyperprolinemia type 2 Autosomal recessive	Metabolic disorders	ALDH4A1 aldehyde dehydrogenase 4 family member A1	Reports Updated as of Feb 20, 2024	PubMed
323	Hypertrophic cardiomyopathy 14 Autosomal dominant	Cardiovascular disorders	MYH6 myosin heavy chain 6	Reports Updated as of Mar 30, 2026	PubMed
324	Hypochondroplasia Autosomal dominant	Bone disorders	FGFR3 fibroblast growth factor receptor 3	Reports Updated as of Jan 05, 2026	PubMed
325	Hypohidrotic X-linked ectodermal dysplasia X-linked recessive	Skin disorders	EDA ectodysplasin A	Reports Updated as of Apr 28, 2026	PubMed
326	Hypomyelinating leukodystrophy 10 Autosomal recessive	Neurodegenerative disorders	PYCR2 pyrroline-5-carboxylate reductase 2	Reports Updated as of Aug 17, 2026	PubMed
327	Hypomyelinating leukodystrophy 6 Autosomal dominant	Neurodegenerative disorders	TUBB4A tubulin beta 4A class IVa	Reports Updated as of Aug 17, 2026	PubMed
328	Hypoparathyroidism-retardation-dysmorphism syndrome Autosomal recessive	Multisystemic disorders	TBCE tubulin folding cofactor E	Reports Updated as of Apr 28, 2026	PubMed
329	Hypoparathyroidism, deafness, renal disease syndrome Autosomal dominant	Multisystemic disorders	GATA3 GATA binding protein 3	Reports Updated as of Mar 09, 2023	PubMed
330	Hypophosphatasia Autosomal dominant, Autosomal recessive	Metabolic disorders	ALPL alkaline phosphatase, biomineralization associated	Reports Updated as of Sep 05, 2023	PubMed

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