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
131	Irido-corneo-trabecular dysgenesis Autosomal dominant, Autosomal recessive	Eye disorders	CYP1B1 cytochrome P450 family 1 subfamily B member 1 PAX6 paired box 6 PTCH1 patched 1 FAT4 FAT atypical cadherin 4 FAT1 FAT atypical cadherin 1 PITX2 paired like homeodomain 2 BMP4 bone morphogenetic protein 4 ARHGAP35 Rho GTPase activating protein 35 COL4A1 collagen type IV alpha 1 chain	Reports Updated as of Jan 04, 2024	PubMed
132	Jervell and Lange-Nielsen syndrome Autosomal recessive	Multisystemic disorders	KCNQ1 potassium voltage-gated channel subfamily Q member 1 KCNE1 potassium voltage-gated channel subfamily E regulatory subunit 1	Reports Updated as of Feb 01, 2025	PubMed
133	Jeune thoracic dystrophy	Bone disorders	DYNC2H1 dynein cytoplasmic 2 heavy chain 1 IFT80 intraflagellar transport 80 TTC21B tetratricopeptide repeat domain 21B WDR19 WD repeat domain 19 LBR lamin B receptor KIAA0753 KIAA0753 WDR35 WD repeat domain 35 TRAF3IP1 TRAF3 interacting protein 1 INTU inturned planar cell polarity protein NEK1 NIMA related kinase 1 EVC2 EvC ciliary complex subunit 2 DYNC2I1 dynein 2 intermediate chain 1 DYNC2I2 dynein 2 intermediate chain 2 IFT74 intraflagellar transport 74 IFT88 intraflagellar transport 88 IFT43 intraflagellar transport 43 FUZ fuzzy planar cell polarity protein KIAA0586 KIAA0586 B9D1 B9 domain containing 1 FLVCR1 FLVCR choline and heme transporter 1 SLTM SAFB like transcription modulator GRK2 G protein-coupled receptor kinase 2 RAB34 RAB34, member RAS oncogene family	Reports Updated as of Feb 01, 2025	PubMed
134	Joubert syndrome Autosomal recessive, X-linked dominant	Neurodevelopmental disorders	TMEM216 transmembrane protein 216 INPP5E inositol polyphosphate-5-phosphatase E CC2D2A coiled-coil and C2 domain containing 2A RPGRIP1L RPGRIP1 like CEP290 centrosomal protein 290 TMEM67 transmembrane protein 67 ARL13B ADP ribosylation factor like GTPase 13B AHI1 Abelson helper integration site 1 OFD1 OFD1 centriole and centriolar satellite protein TCTN1 tectonic family member 1 CEP41 centrosomal protein 41 KIF7 kinesin family member 7 TMEM237 transmembrane protein 237 TMEM138 transmembrane protein 138 CPLANE1 ciliogenesis and planar polarity effector complex subunit 1 TCTN3 tectonic family member 3 ZNF423 zinc finger protein 423 TMEM231 transmembrane protein 231 CSPP1 centrosome and spindle pole associated protein 1 PDE6D phosphodiesterase 6D KIAA0586 KIAA0586 TCTN2 tectonic family member 2 CEP104 centrosomal protein 104 MKS1 MKS transition zone complex subunit 1 B9D1 B9 domain containing 1 LRRCC1 leucine rich repeat and coiled-coil centrosomal protein 1 NPHP1 nephrocystin 1 SLC30A7 solute carrier family 30 member 7 MICALL2 MICAL like 2 CEP120 centrosomal protein 120 SUFU SUFU negative regulator of hedgehog signaling PIBF1 progesterone immunomodulatory binding factor 1 KATNIP katanin interacting protein ARMC9 armadillo repeat containing 9 ARL3 ADP ribosylation factor like GTPase 3 FAM149B1 family with sequence similarity 149 member B1 TOGARAM1 TOG array regulator of axonemal microtubules 1 KIAA0753 KIAA0753 IFT74 intraflagellar transport 74 NPHP3 nephrocystin 3 TMEM218 transmembrane protein 218 KIF14 kinesin family member 14 B9D2 B9 domain containing 2	Reports Updated as of May 24, 2023	PubMed
135	Junctional epidermolysis bullosa with pyloric atresia Autosomal recessive	Skin disorders	ITGB4 integrin subunit beta 4 PLEC plectin ITGA6 integrin subunit alpha 6	Reports Updated as of Jun 12, 2025	PubMed
136	Junctional epidermolysis bullosa, non-Herlitz type Autosomal recessive	Skin disorders	LAMB3 laminin subunit beta 3 COL17A1 collagen type XVII alpha 1 chain LAMA3 laminin subunit alpha 3 LAMC2 laminin subunit gamma 2	Reports Updated as of Jun 12, 2025	PubMed
137	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke MT inheritance	Metabolic disorders	MT-TL1 mitochondrially encoded tRNA leucine 1 (UUA/G) MT-ND6 mitochondrially encoded NADH dehydrogenase 6 MT-ND5 mitochondrially encoded NADH dehydrogenase 5 MT-ND1 mitochondrially encoded NADH dehydrogenase 1 NDUFS1 NADH:ubiquinone oxidoreductase core subunit S1 MT-TR mitochondrially encoded tRNA arginine MT-TH mitochondrially encoded tRNA histidine MT-TS2 mitochondrially encoded tRNA serine 2 (AGU/C) MT-TL2 mitochondrially encoded tRNA leucine 2 (CUN) MT-TE mitochondrially encoded tRNA glutamic acid MT-TT mitochondrially encoded tRNA threonine MT-TP mitochondrially encoded tRNA proline MT-TV mitochondrially encoded tRNA valine MT-TI mitochondrially encoded tRNA isoleucine MT-TQ mitochondrially encoded tRNA glutamine MT-TM mitochondrially encoded tRNA methionine MT-TW mitochondrially encoded tRNA tryptophan MT-TF mitochondrially encoded tRNA phenylalanine MT-TD mitochondrially encoded tRNA aspartic acid MT-TK mitochondrially encoded tRNA lysine MT-TG mitochondrially encoded tRNA glycine MT-CYB mitochondrially encoded cytochrome b	Reports Updated as of Jul 20, 2024	PubMed
138	Kabuki syndrome Autosomal dominant	Neurodevelopmental disorders	KMT2D lysine methyltransferase 2D KDM6A lysine demethylase 6A KMT2A lysine methyltransferase 2A KMT2B lysine methyltransferase 2B	Reports Updated as of Mar 09, 2023	PubMed
139	Kartagener syndrome Autosomal recessive	Respiratory disorders	DNAI1 dynein axonemal intermediate chain 1 DNAH1 dynein axonemal heavy chain 1 DNAH5 dynein axonemal heavy chain 5 CCDC40 coiled-coil domain 40 molecular ruler complex subunit ODAD3 outer dynein arm docking complex subunit 3 DRC1 dynein regulatory complex subunit 1	Reports Updated as of Jul 20, 2024	PubMed
140	Keratosis follicularis Autosomal dominant	Skin disorders	ATP2A2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 MBTPS2 membrane bound transcription factor peptidase, site 2	Reports Updated as of Dec 07, 2023	PubMed

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