RARE DISEASES IN INDIA
Sl. No.Name of the Rare Disease in India
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Acanthocytosis Chorea
Achalasia Cardia
Acromesomelic Dysplasia
Acute Inflammatory Demyelinating Polyneuropathy (AIDP)
Acute Lympoblastic Lukemea
Adrenoleukodystrophy(ALD)
Aidp
ALAGILLE SYNDROME
Alkaptonuria
Alkaptonuria
Alzheimer’s Disease
Amyloid Neuropathy
14Amyloidosis
15Amyotrophic Lateral Sclerosis
16Angelman Syndrome
18Ankylosing Spondolytis
19Anorchia
20Anterior Horn Cell Disease (AHCD)
21Apert Syndrome
22Arthrogryposis, Distal-5D
23Ataxia
25Auto Immune Disease
26Autosomal Recessive Polycystic Kidney Disease
27Bannayan Riley Ruvalcaba Syndrome
28Batten Diseases
29Becker's Nevus.
30Bilateral Anorchia
31Bilateral cystoid macular edema
32Biotinidase Deficiency
33Brook Speigler Syndrome (Cylindroma)
34Budd Chiari Syndrome
35
Camptodactyly-Arthropathy-Coxavara-Pericarditis Syndrome (Common Mutation)
36CANAVAN DISEASE
37Cartilage Hair Hypoplasia
38Celiac Disease
39Cerebellar Ataxia
40Cerebrotendinous Xanthamatosis
41Chaple Syndrome
42Charcot Marie Tooth
43Charcot-Marie-Tooth Disorder (CMT)
44Chronic Granulomatous Disease (CGD)
45Chronic Infantile Neurologic Cutaneous Articular Syndrome
46Chronic Kidney Disease
47CHST3 Related Disorder (SED- Omani)
48Cockayne Syndrome
49Cold Urticaria
50Common Variable Immune Deficiency (CVID)
51Complex Regional Pain Syndrome(CRPS)
52Cone Rod Dystrophy
53Congenital Contractural Arachnodactyly
54Congenital Glaucoma
56Congenital Myasthenia Gravis
57Congenital Myopathy
58Congenital Nephrotic Syndrome
59Creutzfeldt-Jakob disease (CJD)
60Criggler Najjar Syndrome
61Cryopyrin-Associated Periodic Syndrome (CAPS)
63Cutis Laxa
65Dense Deposit Disease
66Dentinogenesis Imperfecta Type 2
67Diastrophic Dysplasia
68DUCHENNE MUSCULAR DYSTROPHY(DMD)
69Dysferlinopathy
70Ectodermal Dysplasia(ED)
71Enthesitis Related Arthritis
72Episodic Ataxia
74Facioscapulohumeral Muscular Dystrophy (FSHD)
75Familial Mediterranean Fever (Common Mutation)
76Farber Disease (ACID CERAMIDASE DEFICIENCY)
77Fetal Valproate Syndrome
78Fibromylagia
79Fibrous Dyslapsia
80Fish Odor Syndrome
82Friedreich’s Ataxia
83Fructose 1,6 Bisphosphatase Deficiency
85Gdd
86Glandular Cheilitis
87Glutaric Acidemia Type II
88Gluten Ataxia
89GM1 Gangliosidosis
90GM2 Gangliosidosis
91Goldenhar Syndrome
92Goodpastue Syndrome
93Granulomatosis with polyangiitis (GPA)
94Guillain Barre Syndrome
95Haemangioma
96Hajdu-Cheney Syndrome
97Hallermann-Streiff syndrome (HSS)
98Hemophagocytic lymphohistiocytosis (HLH
99Hereditary Sensory Motor Neuropathy
100Hereditary Spastic Paraplegia (HSP)
101Hirayama Disease
102Hirschsprung’s disease
103HMSN Type I
104Hunter Syndrome (MPS II)
105Hurler Syndrome (MPS I)
106Hydrocephalus
107Hyperammonia Carbonic Anhydrase Deficency
108Hyperuricemic Nephropathy, Familial Juvenile 1
109IEM Disorders – (Inborn errors of metabolism)
110IGGR4
111Infantile Systemic Hyalinosis/ Juvenile Hyaline Fibromatosis
112Interstitial Cystitis
113Intestinal Cancer
114ITP (Immune Thrombocytopenia) Blood Disorder
115Jansen’s metaphyseal chondrodysplasia (JMC)
116Johanson Blizzard Syndrome
117Joubert Syndrome
118Kabuki Syndrome
119Kearns-Sayre syndrome (KSS)
120Kleeftra Syndrome
121Klinefelter Syndrome
122KMT2B Childhood Dystonia
123Krabbie Disease
124Lamellar Ichthyosis
125Lawrence Moon Biedl Syndrome
126Leber Congenital Amaurosis
127Leigh syndrome
128Lennox Gastaut Syndrome
129Limb Gridle Muscular Dystrophy
130Lion Face Syndrome
131Lipid Storage Disease
132Lupus Nephritis
133Lysosomal Storage Disorders
135Maple syrup urine disease
136Maple Syrup Urine Disease
137Marcus Gunn Syndrome
138Marie’s Ataxia/Olivopontocerebellar Atrophy (OPCA)
139Maroteaux-Lamy Syndrome (MPS VI)
140Mayer-Rokitansky-Kuster-Hauser(MRKH) Syndrome
141
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome
142Melnickneedles Syndrome (Exon22)
143Menière Disease
144Menkey Kinky Hair Disease
145Metachromatic Leukodystrophy (Saposinb)
146Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE)
147Mitochondrial Neurogastrointestinalencephalomyopathy (MNGIE)
148Mitrochondrial Disorder
149MMA ( Methyl Malonic Acid)
150Moebius Syndrome
151Morquio A Syndrome
152Morquio B Syndrome And GM1 Gangliosidosis
153Motor Neuron Disease Bulbor Palsy
154Motor Neurone Disease(MND)
155Moyamoya Disease
156MPS I-H/ Hurler
157MPS I-HS/Hurler-Scheie syndrome
158MPS I-S/ Scheie syndrome
159MPS II/Hunter Syndrome
160MPS III A/ Sanfilippo A
161MPS III B/Sanfilippo B
162MPS IV A/Morquio A
163MPS IV B/ Morquio B
164MPS IX Hyaluronidase Deficiency
165MPS VI/Maroteaux- Lamy Syndrome
166Muccopolysaccaroidis
167Mucolipidosis II(I cell Disorder)
168Multicentric Reticulohistiocytosis
169Multicystic Dysplastic Kidney
170Multiple Endocrine Neoplasia
171Multiple Sclerosis
172Myalgic Encephalomyelitis
173Myelopathy
174Myotonia Congenital
175Nephropathic Cystinosis
176Netherton Syndrome
177Neurofibromatosis
178Neurofibromatosis Type 1
179Neurofibromatosis Type II (NF Type II)
180Neuromyelitis Optica Spectrum Disorder
181Neuronal Ceroid-Lipofuscinoses(NCL)
182Niemann Pick A
183Niemann Pick B
184Niemann–Pick
185Nodular Prurigo
186Noonan Syndrome
187Obsessive Compulsive Disorder
188Occipital Horn Syndrome; SMA TYPE V
189Oculodentodigital Syndrome
190Osteogenesis Imperfecta
191Otopalatodigitalsyndrome (Exon 3,4,5)
192Pachydermoperiostosis
193Pantothenate kinase-associated neurodegeneration (PKAN)
194Paraneoplastic Cerebellar Degeneration (PCD)
195Partial Androgen Insensitivity Syndrome
196Pemphigus Vulgaris
197Persistent hyperplastic primary vitreous (PHPV)
198Persistentmullerian Duct Syndrome
199Pfieffer Syndrome
200Phelan McDermid Syndrome
201Phenylketonuria
202Pierre Robin Syndrome
203Pigmented villonodular synovitis (PVNS)
204Pineal Cyst
205Pompe Disease/GSD Type II
207Primary Dystonia Type I
208Primary Immunodeficiency
209Progeria
210Progressive Myoclonic Epilepsy With Ataxia
211Progressive Pseudorheumatoid Dysplasia
212Prurigo Nodularis
213Pseudohypoaldosteronism Type 1
214Pulmonary arterial hypertension
215Pulmonary Fibrosis
216Raine Syndrome (RNS) or Osteosclerotic Bone Dysplasia
217Retinitis Pigmentosa
218Rett Syndrome
219Rhizomelic chondrodysplasia punctata
220Rhynites
221Robinow Syndrome
222Rp-Eye
223Sarcoma (Suspected)
224Scleroderma
225Shprintzen-Goldberg
226Sialidosis (Mucolipidosis)
227SIDS - Sudden Infant Death Syndrome
228Sjögren’s Syndrome
229Sotos Syndrome
230SPINA Bifida & Hydrocephalus Awareness
231Spinal Muscular Atrophy (SMA)
232Spino Cerebellar Ataxia Type 3(SCA Type 3)
233Spinocerebellar Ataxias (SCA’s)(Type 1 to19)
234Spodylocostal Dysostosis 1
235Spodylocostal Dysostosis 2
236Spodylocostal Dysostosis 3
237Spodylocostal Dysostosis 4
238Spodylocostal Dysostosis 5
239Spodylothoracicdysostosis /Jarcho Levin Syndrome
240Steven Johnson Syndrome (Sjs
241Sticklers Syndrome
242Stiff Person Syndrome
243Sturge Weber Syndrome (SWS)
244Systemic lupus erythematosus (SLE)
245Systemic onset Juvenile Idiopathic Arthritis (SoJIA)
246Tarlov Cyst
247Tay Sachs Disease
248Tay-Sachs
249Thyroceme Type 1
250
TNF Receptor-Associated Periodic Fever Syndrome (TRAPS) (Common Mutation)
251Torg - Winchester Syndrome
253Tuberous Sclerosis
254Ulcerative colitis/ Inflammatory Bowel Disease (IBD)
256Vasculitis
257Vitiligo
258Von Hippellindau Syndrome
259Waardenburg Syndrome
260Warburg Micro Syndrome
261Willams Sundrome
262Wilson Disease
263Wolfram Syndrome