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Rare Disease Classifications
All CategoriesMetabolic disorders
Diseases resulting from a malfunction in metabolic processes, which may occur due to a deficiency of an enzyme or hormone, leading to the accumulation of harmful substances or a deficiency of important substances.
Sub Categories :
- Amino acid metabolism disorders
- Urea cycle metabolism disorders
- carbohydrate metabolism disorders
- Congenital disorder of glycosylation
- Disorder of biogenic amine metabolism and transport
- Disorder of energy metabolism
- Disorder of lipid metabolism
- Disorder of lysosomal-related organelles
- Disorder of metabolite absorption and transport
- Disorder of porphyrin and heme metabolism
- Disorder of purine or pyrimidine metabolism
- Lysosomal disease
- Other metabolic disease
- Peroxisomal disease
Imprinting disorders
Diseases that occur due to changes in the way genes work, without a change in the DNA sequence itself.
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Chromosome disorders
Chromosomal disorders are abnormalities in the number or structure of chromosomes, leading to growth and developmental issues, such as Down syndrome caused by an extra chromosome.
Sub Categories :
- Autosomal anomaly
- Mosaic variegated aneuploidy syndrome
Biological disorders without phenotype
Biological disorders without phenotype refer to conditions that involve biochemical or molecular abnormalities without causing noticeable symptoms or visible changes in structure or function.
Sub Categories :
- Beta-mercaptolactate cysteine disulfiduria
- Carnosinase deficiency
- Congenital deficiency in alpha-fetoprotein
- Genetic hyperferritinemia without iron overload
- Hereditary persistence of alpha-fetoprotein
Ciliopathy
Ciliopathy is a group of genetic disorders caused by defects in the function or structure of cilia, which are microscopic cellular structures involved in movement and signaling. This condition can lead to respiratory issues, vision impairment, kidney disorders, and neurodevelopmental abnormalities.
Sub Categories :
- Birt-Hogg-Dubé syndrome
- Carpenter syndrome
- Complex lethal osteochondrodysplasia
- Greig cephalopolysyndactyly syndrome
- Greig cephalopolysyndactyly-contiguous gene syndrome
- Hydrolethalus
- NEK9 NEK9-related lethal skeletal dysplasia
- Oculoskeletodental syndrome
- Oral-facial-digital syndrome with short stature and brachymesophalangy
- Renal ciliopathy
- Retinal ciliopathy
- Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome
ENT diseases (Ear, Nose, and Throat diseases)
Otorhinolaryngologic diseases include a wide range of conditions affecting the upper respiratory tract, hearing, and balance. These include sinusitis, otitis media, hearing loss, voice disorders, and vertigo. They may result from infections, genetic factors, or structural abnormalities.
Sub Categories :
- Familial nasal acilia
- Genetic otorhinolaryngological malformation
- Isolated congenital anosmia
- Rare genetic deafness
Hereditary angioedema (HAE)
Hereditary angioedema (HAE) is a rare genetic disorder that causes recurrent swelling in the skin, gastrointestinal tract, and airways due to a deficiency or dysfunction of C1 inhibitor, a protein that regulates the immune response. Severe attacks can lead to airway obstruction and serious complications.
Sub Categories :
- Hereditary angioedema with C1Inh deficiency
- Hereditary angioedema with normal C1Inh
Genetic imprinting disorders
Genetic imprinting disorders are genetic conditions caused by changes in how genes are expressed in cells without altering the DNA sequence itself. This occurs due to the addition or removal of chemical marks on genes (such as methylation) that affect their activity. Common examples of these disorders include Prader-Willi syndrome and Angelman syndrome.
Sub Categories :
- Angelman syndrome
- Beckwith-Wiedemann syndrome
- Kagami-Ogata syndrome
- MAGEL2-related Prader-Willi-like syndrome
- Prader-Willi syndrome
- Pseudohypoparathyroidism type 1A
- Pseudohypoparathyroidism type 1B
- Pseudohypoparathyroidism type 1C
- Pseudopseudohypoparathyroidism
- Silver-Russell syndrome
- Temple syndrome
- Transient neonatal diabetes mellitus
Genetic predisposition syndromes for cancer
Cancer predisposition syndromes are genetic disorders that increase the risk of cancer due to mutations in genes affecting DNA repair and cell growth regulation. Known examples include Li-Fraumeni syndrome and hereditary breast-ovarian cancer syndrome. Individuals with these syndromes are at higher risk for early cancer development.
Sub Categories :
- ـ BAP1-related tumor predisposition syndrome
- Blue rubber bleb nevus
- Combined immunodeficiency due to OX40 deficiency
Communities
At Nader Community, we understand how difficult it is to navigate the experience of being diagnosed with a rare disease and dealing with it alone without adequate sources of information. Because we believe that sharing experiences can ease this burden, we created interactive communities to be the perfect platform for sharing experiences and support among people with rare diseases and their families.
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News
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Inspiring stories
Mays
حياكم الله، معكم أم ميس. حكاية ابنتي لو جعلتها كتابًا، لكانت من أكثر القصص مبيعًا وتأثيرًا. جبتها في...
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Inspiring stories
Layan Alburaiky
Life often takes us to unexpected destinations, but in the end, it forces us to discover the patienc...
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Events and Conferences
Rare Diseases: Challenges in Diagnosis and Treatment
Rare diseases are a group of medical conditions that affect a very small percentage of the populatio...
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Events and Conferences
Rare Diseases: Challenges in Diagnosis and Treatment
Rare diseases are a group of medical conditions that affect a very small percentage of the populatio...
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About Us
A volunteer group that believes in the importance of empowering patients with rare diseases, and we seek to contribute to supporting them through a community that facilitates communication and sharing experiences among them.
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