Myopathy, and Decreased antibody level in blood

Diseases related with Myopathy and Decreased antibody level in blood

In the following list you will find some of the most common rare diseases related to Myopathy and Decreased antibody level in blood that can help you solving undiagnosed cases.

Top matches:

Myotonic dystrophy (DM) is a multisystem disorder and the most common form of muscular dystrophy in adults. Individuals with DM2 have muscle pain and stiffness, progressive muscle weakness, myotonia, male hypogonadism, cardiac arrhythmias, diabetes, and early cataracts. Other features may include cognitive dysfunction, hypersomnia, tremor, and hearing loss (summary by Heatwole et al., 2011).See also myotonic dystrophy-1 (DM1 ), caused by an expanded CTG repeat in the dystrophia myotonica protein kinase gene (DMPK ) on 19q13.Although originally reported as 2 disorders, myotonic dystrophy-2 and proximal myotonic myopathy are now referred to collectively as DM2 (Udd et al., 2003).

MYOTONIC DYSTROPHY 2; DM2 Is also known as promm|proximal myotonic myopathy|dystrophia myotonica 2|myotonic myopathy, proximal|ricker syndrome

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Muscle weakness
  • Pain
  • Cataract


SOURCES: ORPHANET OMIM MENDELIAN

More info about MYOTONIC DYSTROPHY 2; DM2

X-linked agammaglobulinemia (XLA) is a clinically variable form of isolated agammaglobulinemia, an inherited immunodeficiency disorder (see this term), and is characterized in affected males by recurrent bacterial infections during infancy.

X-LINKED AGAMMAGLOBULINEMIA Is also known as imd1|bruton-type agammaglobulinemia|bruton type agammaglobulinemia|agammaglobulinemia, x-linked, type 1|immunodeficiency 1|btk-deficiency|agmx1

Related symptoms:

  • Short stature
  • Hearing impairment
  • Ataxia
  • Neoplasm
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about X-LINKED AGAMMAGLOBULINEMIA

Congenital generalized lipodystrophy type 4 combines the phenotype of classic Berardinelli-Seip lipodystrophy (OMIM ) with muscular dystrophy and cardiac conduction anomalies (Hayashi et al., 2009).For a general description and a discussion of genetic heterogeneity of congenital generalized lipodystrophy, see CGL1 (OMIM ).

LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4; CGL4 Is also known as berardinelli-seip congenital lipodystrophy, type 4, with muscular dystrophy|lipodystrophy, berardinelli-seip congenital, type 4, with muscular dystrophy

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Failure to thrive


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4; CGL4

Other less relevant matches:

Berardinelli-Seip congenital lipodystrophy (BSCL) is characterized by the association of lipoatrophy, hypertriglyceridemia, hepatomegaly and acromegaloid features. BSCL belongs to the group of extreme insulin resistance syndromes, which also includes leprechaunism, Rabson-Mendenhall syndrome, acquired generalized lipodystrophy, and types A and B insulin resistance (see these terms).

BERARDINELLI-SEIP CONGENITAL LIPODYSTROPHY Is also known as lipoatrophic diabetes|generalized congenital lipodystrophy|gcl|brunzell syndrome|bscl|beradinelli-seip syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Scoliosis
  • Growth delay


SOURCES: ORPHANET MENDELIAN

More info about BERARDINELLI-SEIP CONGENITAL LIPODYSTROPHY

Marinesco-Sjögren syndrome (MSS) belongs to the group of autosomal recessive cerebellar ataxias. Cardinal features of MSS are cerebellar ataxia, congenital cataract, and delayed psychomotor development.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: ORPHANET OMIM MENDELIAN

More info about MARINESCO-SJÖGREN SYNDROME

Low match VICI SYNDROME

Vici syndrome is a very rare and severe congenital multisystem disorder characterized by the principal features of agenesis of the corpus callosum, cataracts, oculocutaneous hypopigmentation, cardiomyopathy and combined immunodeficiency.

VICI SYNDROME Is also known as immunodeficiency with cleft lip/palate, cataract, hypopigmentation, and absent corpus callosum|corpus callosum agenesis-cataract-immunodeficiency syndrome|dionisi-vici-sabetta-gambarara syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about VICI SYNDROME

Distal myopathy, Welander type (WDM) is a distal myopathy characterized by weakness in the distal upper extremities, usually finger and wrist extensors which later progresses to all hand muscles and distal lower extremity, primarily in toe and ankle extensors.

DISTAL MYOPATHY, WELANDER TYPE Is also known as wdm

Related symptoms:

  • Myopathy


SOURCES: ORPHANET MENDELIAN

More info about DISTAL MYOPATHY, WELANDER TYPE

Alpha-mannosidosis is an autosomal recessive lysosomal storage disease characterized by mental retardation, coarse facial features, skeletal abnormalities, hearing impairment, neurologic motor problems, and immune deficiency. Expression of the disease varies considerably, and there is a wide spectrum of clinical findings and severity. Affected children are often normal at birth and during early development. They present in early childhood with delayed psychomotor development, delayed speech, and hearing loss. Additional features include large head with prominent forehead, rounded eyebrows, flattened nasal bridge, macroglossia, widely spaced teeth, dysostosis multiplex, and motor impairment (summary by Malm and Nilssen, 2008). Classification SystemsTwo classification systems have been used to describe the clinical presentation of alpha-mannosidosis. The earlier system delineated a more severe 'type I,' which shows infantile onset, rapid mental deterioration, hypotonia, splenomegaly, severe dysostosis multiplex, and severe recurrent infections, often resulting in death by age 8 years. Individuals with the less severe 'type II' show normal early development with later childhood development of mental retardation, hearing loss, coarse facies, neurologic deterioration, and survival well into adulthood (summary by Desnick et al., 1976 and Gotoda et al., 1998). A later classification system delineated 3 clinical types. Type 1 is the mildest form, with onset after age 10 years, without skeletal abnormalities and very slow progression. Type 2 is a moderate form, with onset before age 10 years, presence of skeletal abnormalities, and slow progression with development of ataxia by age 20 to 30 years. Type 3 is the severe form, with onset in early infancy, skeletal abnormalities, and obvious progression leading to early death from primary central nervous system involvement or myopathy. Most patients belong to clinical type 2 (summary by Malm and Nilssen, 2008). Despite the clinical heterogeneity of the disorder, there are no apparent genotype/phenotype correlations (Berg et al., 1999; Riise Stensland et al., 2012).

MANNOSIDOSIS, ALPHA B, LYSOSOMAL; MANSA Is also known as alpha-mannosidosis|lysosomal alpha-d-mannosidase deficiency|alpha-mannosidase b deficiency

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about MANNOSIDOSIS, ALPHA B, LYSOSOMAL; MANSA

Low match COWDEN SYNDROME

Cowden syndrome (CS) is a difficult to recognize, under-diagnosed genodermatosis characterized by the presence of multiple hamartomas in various tissues and an increased risk for malignancies of the breast, thyroid, endometrium, kidney and colorectum. When CS is accompanied by germline PTEN mutations, it belongs to the PTEN hamartoma tumor syndrome (PHTS; see this term) group.

COWDEN SYNDROME Is also known as bzs|cowden disease|bbrs|macrocephaly, multiple lipomas, and hemangiomata|pten hamartoma tumor syndrome with granular cell tumor|bannayan-zonana syndrome|macrocephaly, pseudopapilledema, and multiple hemangiomata|cs|cd|mham|pten hamartoma tumor syndrome|ri

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: ORPHANET OMIM MENDELIAN

More info about COWDEN SYNDROME

Proteus syndrome (PS) is a very rare and complex hamartomatous overgrowth disorder characterized by progressive overgrowth of the skeleton, skin, adipose, and central nervous systems.

PROTEUS SYNDROME Is also known as partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome|gigantism, partial, of hands and feet, nevi, hemihypertrophy, and macrocephaly

Related symptoms:

  • Intellectual disability
  • Seizures
  • Scoliosis
  • Hypertelorism
  • Nystagmus


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about PROTEUS SYNDROME

Top 5 symptoms//phenotypes associated to Myopathy and Decreased antibody level in blood

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Recurrent infections Common - Between 50% and 80% cases
Muscle weakness Common - Between 50% and 80% cases
Immunodeficiency Common - Between 50% and 80% cases
Hearing impairment Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Myopathy and Decreased antibody level in blood. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Global developmental delay

Uncommon Symptoms - Between 30% and 50% cases

Failure to thrive

Common Symptoms - More than 50% cases

Scoliosis

Uncommon Symptoms - Between 30% and 50% cases

Cataract Generalized hypotonia Short stature Splenomegaly Skeletal muscle atrophy Lymphopenia Hypertelorism Optic atrophy Nystagmus Kyphosis Recurrent bacterial infections Seizures Ptosis Dilatation Pain Congestive heart failure Ataxia Bronchitis Kyphoscoliosis Epidermal acanthosis Depressed nasal bridge Intellectual disability, moderate Low-set ears Motor delay Polymicrogyria Cerebellar atrophy Spasticity Epicanthus Strabismus Ventricular hypertrophy Growth delay Peripheral neuropathy Joint stiffness Ventriculomegaly Osteopenia Delayed skeletal maturation Abnormality of the skeletal system High palate Hepatomegaly Abnormal facial shape Flexion contracture Muscle stiffness Lipodystrophy Muscular hypotonia Abnormal levels of creatine kinase in blood Delayed speech and language development Prominent supraorbital ridges Sensorineural hearing impairment Cardiomyopathy Palpitations Sudden cardiac death Confusion Muscular dystrophy Myalgia Proximal muscle weakness Diabetes mellitus Elevated serum creatine phosphokinase Arrhythmia Macrocephaly Neoplasm Myopia Cognitive impairment

Rare Symptoms - Less than 30% cases

Secondary amenorrhea Skeletal muscle hypertrophy Generalized hirsutism Bone cyst Microcephaly Arteriovenous malformation Meningioma Lipoma Papilledema Abnormality of skin pigmentation Ovarian neoplasm Hamartoma Multiple cafe-au-lait spots Hyperinsulinemia Multiple lipomas Melanocytic nevus Thickened skin Abnormality of the foot IgA deficiency Loss of subcutaneous adipose tissue in limbs Progressive proximal muscle weakness Neoplasm of the central nervous system Prominent superficial veins Exercise-induced myalgia Generalized lipodystrophy Prolonged QTc interval Atlantoaxial dislocation Dysmenorrhea Generalized hyperkeratosis Hypertrophic cardiomyopathy Enlarged polycystic ovaries Lipoatrophy Congenital generalized lipodystrophy Abnormality of skeletal muscle fiber size Goiter Spinal rigidity Long penis Cutis marmorata Mandibular prognathia Palmoplantar hyperkeratosis Hemangioma Dysarthria Recurrent respiratory infections Muscle flaccidity Pyloric stenosis Metatarsus valgus Gliosis Micrognathia Macroglossia Skeletal dysplasia Macrotia Hyperreflexia Anteverted nares Coarse facial features Centrally nucleated skeletal muscle fibers Respiratory tract infection Intellectual disability, mild Delayed myelination Progressive neurologic deterioration Hydrocephalus Heterotopia Abnormality of retinal pigmentation Frontal bossing Neurodevelopmental delay Severe sensorineural hearing impairment Cellular immunodeficiency Abnormality of finger Abnormality of the metacarpal bones Brachydactyly Gait ataxia Decreased proportion of CD4-positive T cells Intellectual disability, severe Subcutaneous nodule Hypertonia Overgrowth Cerebral atrophy Areflexia Cerebellar hypoplasia Cerebral cortical atrophy Carcinoma Headache Infantile muscular hypotonia Downslanted palpebral fissures Pectus carinatum Neurological speech impairment Hip dislocation Congenital cataract Progressive cerebellar ataxia Hydrocele testis Hip dysplasia Hypertrichosis Limb ataxia Increased intracranial pressure Abnormality of the cerebellar vermis Open mouth Polycystic ovaries Feeding difficulties Chronic diarrhea Telangiectasia Sinusitis Hypopigmented skin patches Chronic otitis media Cellulitis Talipes equinovarus Neutropenia Constipation Osteoporosis Hypothyroidism Hepatosplenomegaly Rigidity Elevated hepatic transaminase Hyperlordosis Sepsis Arthritis Hirsutism Depressivity IgG deficiency Increased variability in muscle fiber diameter Fever Diarrhea Progressive muscle weakness Tachycardia Pneumonia Hypertension Dilated cardiomyopathy Distal muscle weakness Mental deterioration Rod-cone dystrophy Hypogonadism Dysphagia Tremor Postnatal growth retardation Otitis media Growth hormone deficiency Hypertriglyceridemia Insulin resistance Pancreatitis Bradycardia Atrial fibrillation Atherosclerosis Hepatic steatosis Acanthosis nigricans Accelerated skeletal maturation Lymphoma Hypoplasia of the maxilla Dysdiadochokinesis Incoordination Hypercholesterolemia Leukoencephalopathy Breast carcinoma Melanoma Myotonia Drooling Cranial nerve paralysis Depigmentation/hyperpigmentation of skin Neoplasm of the skin Gynecomastia Cafe-au-lait spot Hand polydactyly Exotropia Abnormal cerebellum morphology Epiphora Broad thumb Connective tissue nevi Intention tremor Intracranial hemorrhage Vascular skin abnormality Central heterochromia Scaphocephaly Abnormality of the uterus Furrowed tongue Retinal hamartoma Bronchogenic cyst Megalencephaly Skin tags Prolactin excess Retinal nonattachment Abnormality of the vasculature Limb muscle weakness Abnormal subcutaneous fat tissue distribution Hashimoto thyroiditis Spontaneous abortion Renal cell carcinoma Hodgkin lymphoma Thyroiditis Infertility Hyperthyroidism Lower limb muscle weakness Acute myeloid leukemia Cystic hygroma Neoplasm of the thymus Abnormality of the thyroid gland Macule Joint hypermobility Palmoplantar keratoderma Abnormality of the kidney Nausea and vomiting Impaired smooth pursuit Thoracolumbar kyphosis Abnormal echocardiogram Synovitis Abnormal cornea morphology Abnormality of the rib cage Craniofacial hyperostosis Spondylolisthesis Abnormality of the helix Reduced ejection fraction Male hypogonadism Dysostosis multiplex Delusions Cranial hyperostosis Patellar dislocation Aseptic necrosis Limb dystonia Thickened calvaria Abnormality of the sternum Femoral bowing Bowel incontinence Open bite Bowing of the legs Flat occiput Heart murmur Elevated circulating follicle stimulating hormone level Vacuolated lymphocytes Abnormality of the gingiva Papule Abnormality of dental structure Leukemia Neurofibrillary tangles Narrow mouth Autism Pectus excavatum Hypertrophy of skin of soles Atrial septal defect Oligospermia Spinocerebellar tract disease in lower limbs Flattened moderately deformed vertebrae Synovial hypertrophy Progressive joint destruction Antineutrophil antibody positivity Long ear Abnormality of joint mobility Abnormality of the ilium Hypoplastic inferior ilia Decreased pulmonary function Generalized abnormality of skin Increased hepatic glycogen content Increased vertebral height Spondylolysis Oligosacchariduria Synostosis of joints Cerebral dysmyelination Retinal thinning Astrocytoma Cavernous hemangioma Ovarian cyst Chorioretinal coloboma Irregular hyperpigmentation Spinal canal stenosis Pulmonary embolism Generalized hyperpigmentation Neurofibromas Pericardial effusion Disproportionate tall stature Hallux valgus Decreased muscle mass Diabetes insipidus Hyperostosis Cachexia Abnormal lung lobation Growth abnormality Reduced number of teeth Venous thrombosis Abnormality of dental enamel Abnormality of the nail Abnormal vertebral morphology Lymphedema Abnormal form of the vertebral bodies High myopia Round face Calvarial hyperostosis Epidermal nevus Lymphangioma Abdominal distention Hemihypertrophy Asymmetry of the thorax Asymmetric growth Thick nasal alae Visceral angiomatosis Venous malformation Thin bony cortex Epibulbar dermoid Myofibrillar myopathy Buphthalmos Arterial thrombosis Anisocytosis Abnormality of the neck Testicular neoplasm Nephrogenic diabetes insipidus Lower limb asymmetry Keloids Varicose veins Deep venous thrombosis Macroorchidism Abnormality of the wrist Spinal cord compression Capillary hemangioma Upper limb asymmetry Exostoses Neoplasm of the lung Nevus Renal cyst Intestinal polyposis Angioid streaks of the fundus Pseudopapilledema Progressive macrocephaly Colorectal polyposis Endometrial carcinoma Follicular thyroid carcinoma Narrow palate Sirenomelia Varicocele Thyroid adenoma Intestinal polyp Ovarian carcinoma Abnormality of the penis Acrokeratosis Subcutaneous lipoma Colonic diverticula Adenoma sebaceum Narrow internal auditory canal Facial hyperostosis Nevus sebaceous Fibroma Hamartomatous polyposis Papilloma Thymus hyperplasia Thrombophlebitis Mucosal telangiectasiae Transitional cell carcinoma of the bladder Long face Abnormality of cardiovascular system morphology Facial asymmetry Carious teeth Dolichocephaly Finger syndactyly Craniosynostosis Proptosis Hyperkeratosis Glaucoma Abdominal pain Clinodactyly of the 5th finger Visual loss Syndactyly Neoplasm of the thyroid gland Lobular carcinoma in situ Portal vein thrombosis Multiple trichilemmomata Merkel cell skin cancer Ductal carcinoma in situ Conjunctival hamartoma Dysplastic gangliocytoma of the cerebellum Trichilemmoma Enlarged cerebellum Macrodactyly Cutis marmorata telangiectatica congenita Fibroadenoma of the breast Widely spaced teeth Thick eyebrow Low anterior hairline Short palm Hypergonadotropic hypogonadism Sensorimotor neuropathy Short thumb Meningitis Recurrent pneumonia Specific learning disability Hypocalcemia Short metacarpal Conjunctivitis Microcornea Dyskinesia Smooth philtrum Type I diabetes mellitus Synophrys Recurrent skin infections Encephalitis Rheumatoid arthritis Deeply set eye Pes planus Osteomyelitis Glossoptosis Severe short stature Agammaglobulinemia Hyporeflexia Cor pulmonale Coxa valga Sandal gap Abnormality of the lymphatic system Hepatitis Hypospadias Long philtrum Respiratory distress Autoimmunity Retinopathy Skin rash Malabsorption Cleft palate Abnormal aldolase level Aplasia/Hypoplasia involving the skeletal musculature Abnormal lactate dehydrogenase activity Cerebellar cortical atrophy Abnormal lung morphology Skin ulcer Recurrent urinary tract infections Muscle fiber necrosis Autophagic vacuoles Avascular necrosis of the capital femoral epiphysis Mild global developmental delay Rimmed vacuoles External genital hypoplasia Myopathic facies Congenital muscular dystrophy Cubitus valgus Short metatarsal Dysphonia Myelopathy Thymoma Respiratory failure Sparse and thin eyebrow Muscle mounding Cervical spine instability Generalized muscle hypertrophy Prominent umbilicus Abnormality of upper lip Generalized muscle weakness Atlantoaxial instability Polymorphic ventricular tachycardia Fasting hyperinsulinemia Thin skin Long eyelashes Ileus Supraventricular tachycardia Spastic paraplegia Pointed chin Protuberant abdomen Exercise intolerance Hyperlipidemia Reduced subcutaneous adipose tissue Prolonged QT interval Mildly elevated creatine phosphokinase Ventricular fibrillation Failure to thrive in infancy Ventricular tachycardia Delayed gross motor development Reduced bone mineral density Adipose tissue loss Protruding ear Pyoderma Oligomenorrhea Recurrent cutaneous abscess formation Septic arthritis Abnormality of the tonsils Epididymitis Prostatitis Lymph node hypoplasia Enteroviral dermatomyositis syndrome Enteroviral hepatitis Vomiting Abnormal oral cavity morphology Arterial stenosis Broad foot Growth hormone excess Renal insufficiency Glomerulopathy Large hands Precocious puberty Abnormality of the hair Myocardial infarction Pulmonary arterial hypertension Recurrent fractures Nephropathy Hepatic failure Cirrhosis Neonatal hypotonia Hyperhidrosis Agenesis of corpus callosum Acidosis Spastic gait Iridescent posterior subcapsular cataract Inguinal hernia Hernia Midface retrusion Malar flattening Type 2 muscle fiber atrophy Behavioral abnormality Abnormality of the dentition Frontal balding Short neck Diffuse leukoencephalopathy Gait disturbance Insulin insensitivity Acute bronchitis Prominent forehead White matter neuronal heterotopia Severe T-cell immunodeficiency Penile hypospadias Immunoglobulin IgG2 deficiency Ureteral atresia Aplasia/Hypoplasia of the macula Decreased T cell activation Cutaneous anergy Abnormal immunoglobulin level Frontoparietal polymicrogyria Schizencephaly Abnormal macular morphology Babinski sign Hypersomnia Abnormality of the optic disc IgM deficiency Hallucinations Gingival overgrowth Amblyopia Tall stature Bowing of the long bones Depressed nasal ridge Psychosis Pancytopenia Type II diabetes mellitus Optic disc pallor Peripheral demyelination Dental malocclusion Neck flexor weakness Arteriosclerosis Neurodegeneration Highly arched eyebrow Ventricular arrhythmia Retinal degeneration Dysmetria Genu valgum Hypermetropia Abnormality of the cerebral white matter Corneal opacity Broad forehead Anxiety Umbilical hernia Abnormality of the thymus Recurrent aspiration pneumonia Weight loss Triangular face Increased body weight Aspiration Progressive microcephaly Decreased liver function Thrombocytopenia Decreased body weight Left ventricular hypertrophy Encephalopathy Cerebellar vermis hypoplasia Hypotelorism Narrow forehead Alopecia Hypopigmentation of the skin Aplasia/Hypoplasia of the corpus callosum Sleep disturbance High, narrow palate Thick vermilion border Wide nose Pulmonary hypoplasia Cleft upper lip Severe global developmental delay Dementia Feeding difficulties in infancy Cleft lip Muscular hypotonia of the trunk EEG abnormality Leukopenia Adducted thumb Anemia Renal tubular dysfunction Abnormality of the mandible Pontocerebellar atrophy Granulocytopenia Abnormal posturing Recurrent fungal infections Hypopigmentation of the fundus Hypoplasia of the thymus Recurrent viral infections Abnormal cortical gyration Chronic mucocutaneous candidiasis Hypoplasia of the pons Fair hair Ocular albinism Poor suck Depressed nasal tip Severe failure to thrive Aspiration pneumonia Fatigue Hypopigmentation of hair Optic neuropathy Abnormality of immune system physiology Renal tubular acidosis Macular atrophy Combined immunodeficiency Albinism Congenital sensorineural hearing impairment Mandibular hyperostosis


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