X-linked recessive
Monogenic disorders list based on single and multiple genes
| Disorder Name (Total=15) | Aliases | Category | Gene | Indian Reports | Link |
|---|---|---|---|---|---|
| Rett syndrome |
• Autism, dementia, ataxia, and loss of purposeful hand use • Classic Rett syndrome • Rett's disorder |
Neurodevelopmental disorders |
MECP2 methyl-CpG binding protein 2 FOXG1 forkhead box G1 CDKL5 cyclin dependent kinase like 5 GABBR2 gamma-aminobutyric acid type B receptor subunit 2 RHOBTB2 Rho related BTB domain containing 2 |
Reports Updated as of Sep 15, 2022 |
PubMed |
| Oto-Palato-Digital syndrome |
• Otopalatodigital syndrome type 1 • OPD syndrome 1 |
Bone disorders |
FLNA filamin A |
Reports Updated as of Sep 05, 2023 |
PubMed |
| Fragile X syndrome | Neurodevelopmental disorders |
FMR1 fragile X messenger ribonucleoprotein 1 |
Reports Updated as of Sep 05, 2023 |
PubMed | |
| Child syndrome |
• Congenital hemidysplasia with ichthyosiform nevus and limbs defects • CHILD nevus |
Skin disorders |
NSDHL NAD(P) dependent steroid dehydrogenase-like |
Reports Updated as of Nov 30, 2023 |
PubMed |
| Focal dermal hypoplasia |
• Goltz syndrome • Goltz Gorlin syndrome |
Skin disorders |
PORCN porcupine O-acyltransferase |
Reports Updated as of Dec 07, 2023 |
PubMed |
| Pyruvate dehydrogenase E1-alpha deficiency |
• Pyruvate decarboxylase deficiency • PDHAD • Ataxia with lactic acidosis I • PDHAD |
Metabolic disorders |
PDHA1 pyruvate dehydrogenase E1 subunit alpha 1 PDHX pyruvate dehydrogenase complex component X |
Reports Updated as of Jan 04, 2024 |
PubMed |
| Nance-Horan syndrome |
• Cataract dental syndrome • Mesiodens cataract syndrome • Cataract X-linked with Hutchinsonian teeth |
Eye disorders |
NHS NHS actin remodeling regulator |
Reports Updated as of Feb 01, 2024 |
PubMed |
| Orofaciodigital syndrome I |
• OFD syndrome 1 • Oral-facial-digital syndrome type 1 • Orofaciodigital syndrome 1 • Papillon-Léage-Psaume syndrome • OFDS 1 |
Neurodevelopmental disorders |
OFD1 OFD1 centriole and centriolar satellite protein |
Reports Updated as of Feb 01, 2024 |
PubMed |
| Hyper-IgM syndrome type 1 |
• Hyper IgM immunodeficiency, X-linked • hyper-IgM syndrome due to CD40 ligand deficiency • Hyper-IgM Immunodeficiency Syndrome, Type 1 • Immunodeficiency with hyper IgM type 1 • Immunodeficiency, X-linked, with hyper-IgM • X-linked hyper-IgM syndrome • hyper-IgM syndrome due to CD40L deficiency • hyperimmunoglobulin M syndrome • immunodeficiency, X-linked, with hyper-IgM, X-linked recessive • X-linked hyper-IgM syndrome • XHIGM |
Immune disorders |
CD40LG CD40 ligand |
Reports Updated as of Feb 01, 2025 |
PubMed |
| Kennedy disease |
• Bulbo-spinal atrophy X-linked • spinal and bulbar muscular atrophy of Kennedy, X-linked recessive • spinal and bulbar muscular atrophy, X-linked type 1 • spinal bulbar muscular atrophy • spinobulbar muscular atrophy • X-linked BSMA • X-linked bulbo-spinal atrophy • X-linked bulbospinal amyotrophy • X-linked bulbospinal muscular atrophy • X-linked spinal and bulbar muscular atrophy • Bulbospinal neuronopathy X-linked recessive • Kennedy spinal and bulbar muscular atrophy • Spinal and bulbar muscular atrophy • Spinal and bulbar muscular atrophy X-linked |
Neuromuscular disorders |
AR androgen receptor |
Reports Updated as of Feb 01, 2025 |
PubMed |
| Severe X-linked myotubular myopathy |
• X-linked myotubular myopathy • X-linked centronuclear myopathy • myotubular myopathy 1 • myotubular myopathy, X-linked |
Neuromuscular disorders |
DNM2 dynamin 2 MTM1 myotubularin 1 |
Reports Updated as of Feb 01, 2025 |
PubMed |
| Emery-Dreifuss muscular dystrophy 1, X-linked | Neuromuscular disorders |
EMD emerin |
Reports Updated as of Feb 01, 2025 |
PubMed | |
| X-linked myopathy with excessive autophagy |
• Autophagic vacuolar myopathy • Vacuolar myopathy • myopathy, X-linked, with excessive autophagy, X-linked recessive • XMEA |
Neuromuscular disorders |
VMA21 vacuolar ATPase assembly factor VMA21 |
Reports Updated as of Feb 01, 2025 |
PubMed |
| Allan-Herndon-Dudley syndrome |
• MCT8-specific thyroid hormone cell-membrane transporter deficiency • monocarboxylate transporter 8 deficiency • MCT8 (SLC16A2)-specific thyroid hormone cell transporter deficiency • mental retardation and muscular atrophy • monocarboxylate transporter-8 deficiency • T3 resistance • Triiodothyronine resistance • X-linked mental retardation with hypotonia • Allan-Herndon syndrome • MCT8 deficiency • MCT8-specific thyroid hormone cell membrane transporter deficiency • MCT8-Specific Thyroid Hormone Cell Transporter Deficiency • X-linked intellectual disability-hypotonia syndrome • AHDS |
Neurodevelopmental disorders |
SLC16A2 solute carrier family 16 member 2 |
Reports Updated as of Feb 01, 2025 |
PubMed |
| X-linked sideroblastic anemia 1 |
• X-linked pyridoxine-refractory sideroblastic anemia • Anemia, sideroblastic, 1, X-linked recessive • sideroblastic anemia, X-linked • X-linked sideroblastic anaemia • X-linked sideroblastic anemia • XLSA • Anemia, sideroblastic, 1, pyridoxine refractory • Anemia, hereditary sideroblastic 1, pyridoxine refractory • Anemia, sideroblastic, 1 • Congenital sideroblastic anemia • Erythroid 5-aminolevulinate synthase deficiency • X chromosome-linked sideroblastic anemia |
Metabolic disorders |
ALAS2 5'-aminolevulinate synthase 2 SLC25A38 solute carrier family 25 member 38 |
Reports Updated as of Feb 04, 2025 |
PubMed |