Immunodeficiency, and Corneal opacity

Diseases related with Immunodeficiency and Corneal opacity

In the following list you will find some of the most common rare diseases related to Immunodeficiency and Corneal opacity that can help you solving undiagnosed cases.

Top matches:

Sanjad-Sakati syndrome (SSS), also known as hypoparathyroidism - intellectual disability-dysmorphism, is a rare multiple congenital anomaly syndrome, mainly occurring in the Middle East and the Arabian Gulf countries, characterized by intrauterine growth restriction at birth, microcephaly, congenital hypoparathyroidism (that can cause hypocalcemic tetany or seizures in infancy), severe growth retardation, typical facial features (long narrow face, deep-set eyes, beaked nose, floppy and large ears, long philtrum, thin lips and micrognathia), and mild to moderate intellectual deficiency. Ocular findings (i.e. nanophthalmos, retinal vascular tortuosity and corneal opacification/clouding) and superior mesenteric artery syndrome have also been reported. Although SSS shares the same locus with the autosomal recessive form of Kenny-Caffey syndrome (see this term), the latter differs from SSS by its normal intelligence and skeletal features.

SANJAD-SAKATI SYNDROME Is also known as richardson-kirk syndrome|hrd syndrome|sanjad-sakati syndrome|hypoparathyroidism-intellectual disability-dysmorphism syndrome|hypoparathyroidism, congenital, associated with dysmorphism, growth retardation, and developmental delay|sss|hypoparathyroidism wi

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about SANJAD-SAKATI SYNDROME

Fraser syndrome is an autosomal recessive malformation disorder characterized by cryptophthalmos, syndactyly, and abnormalities of the respiratory and urogenital tract (summary by van Haelst et al., 2008). Genetic Heterogeneity of Fraser SyndromeFraser syndrome-2 (FRASRS2) is caused by mutation in the FREM2 gene (OMIM ) on chromosome 13q13, and Fraser syndrome-3 (FRASRS3) is caused by mutation in the GRIP1 gene (OMIM ) on chromosome 12q14.See Bowen syndrome (OMIM ) for a comparable but probably distinct syndrome of multiple congenital malformations.

FRASER SYNDROME 1; FRASRS1 Is also known as cryptophthalmos with other malformations|fraser syndrome|cryptophthalmos-syndactyly syndrome

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Microcephaly
  • Hypertelorism
  • Cleft palate


SOURCES: OMIM MENDELIAN

More info about FRASER SYNDROME 1; FRASRS1

Schimke immuno-osseous dysplasia (SIOD) is a multisystem disorder characterized by spondyloepiphyseal dysplasia and disproportionate short stature, facial dysmorphism, T-cell immunodeficiency, and glomerulonephritis with nephrotic syndrome.

SCHIMKE IMMUNO-OSSEOUS DYSPLASIA Is also known as immunoosseous dysplasia, schimke type|schimke syndrome|spondyloepiphyseal dysplasia-nephrotic syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Scoliosis
  • Growth delay


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about SCHIMKE IMMUNO-OSSEOUS DYSPLASIA

Other less relevant matches:

Ichthyosis follicularis - alopecia - photophobia (IFAP) is a rare genetic disorder characterized by the triad of ichthyosis follicularis, alopecia, and photophobia from birth.

ICHTHYOSIS FOLLICULARIS-ALOPECIA-PHOTOPHOBIA SYNDROME Is also known as ichthyosis follicularis-atrichia-photophobia syndrome|ifap syndrome|ichthyosis follicularis, atrichia, and photophobia with or without brain anomalies, retardation, ectodermal dysplasia, skeletal malformations, hirschsprung disease, ear/eye anomalies, cle

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about ICHTHYOSIS FOLLICULARIS-ALOPECIA-PHOTOPHOBIA SYNDROME

DiGeorge syndrome (DGS) comprises hypocalcemia arising from parathyroid hypoplasia, thymic hypoplasia, and outflow tract defects of the heart. Disturbance of cervical neural crest migration into the derivatives of the pharyngeal arches and pouches can account for the phenotype. Most cases result from a deletion of chromosome 22q11.2 (the DiGeorge syndrome chromosome region, or DGCR). Several genes are lost including the putative transcription factor TUPLE1 which is expressed in the appropriate distribution. This deletion may present with a variety of phenotypes: Shprintzen, or velocardiofacial, syndrome (VCFS ); conotruncal anomaly face (or Takao syndrome); and isolated outflow tract defects of the heart including tetralogy of Fallot, truncus arteriosus, and interrupted aortic arch. A collective acronym CATCH22 has been proposed for these differing presentations. A small number of cases of DGS have defects in other chromosomes, notably 10p13 (see {601362}). In the mouse, a transgenic Hox A3 (Hox 1.5) knockout produces a phenotype similar to DGS as do the teratogens retinoic acid and alcohol.

DIGEORGE SYNDROME; DGS Is also known as hypoplasia of thymus and parathyroids|chromosome 22q11.2 deletion syndrome|third and fourth pharyngeal pouch syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about DIGEORGE SYNDROME; DGS

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

Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation is a mixed autoinflammatory and autoimmune syndrome disorder characterized by recurrent neutrophilic blistering skin lesions, arthralgia, ocular inflammation, inflammatory bowel disease, absence of autoantibodies, and mild immunodeficiency manifested by recurrent sinopulmonary infections and deficiency of circulating antibodies. Inflammatory phenotype is not provoked by cold temperatures.

AUTOINFLAMMATION-PLCG2-ASSOCIATED ANTIBODY DEFICIENCY-IMMUNE DYSREGULATION Is also known as aplaid

Related symptoms:

  • Cataract
  • Immunodeficiency
  • Recurrent infections
  • Arthralgia
  • Erythema


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOINFLAMMATION-PLCG2-ASSOCIATED ANTIBODY DEFICIENCY-IMMUNE DYSREGULATION

Hereditary sensory and autonomic neuropathy, type 5 (HSAN5) is characterized by loss of pain perception and impaired temperature sensitivity, in the absence of any other major neurological anomalies.

HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE 5 Is also known as hsan v|insensitivity to pain, congenital|hsan5|congenital insensitivity to pain and thermal analgesia|hereditary sensory and autonomic neuropathy type v

Related symptoms:

  • Intellectual disability
  • Pain
  • Peripheral neuropathy
  • Abnormality of the dentition
  • Intellectual disability, mild


SOURCES: ORPHANET OMIM MENDELIAN

More info about HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE 5

Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete interleukin-12 subunit beta (IL12B) deficiency is a genetic variant of MSMD (see this term) characterized by mild bacillus Calmette-Guérin (BCG) infections and recurrent Salmonella infections.

MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASES DUE TO COMPLETE IL12B DEFICIENCY Is also known as mendelian susceptibility to mycobacterial diseases due to complete interleukin 12b deficiency|msmd due to complete interleukin 12b deficiency|msmd due to complete il12b deficiency|il12b deficiency

Related symptoms:

  • Immunodeficiency
  • Lymphadenopathy


SOURCES: ORPHANET OMIM MENDELIAN

More info about MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASES DUE TO COMPLETE IL12B DEFICIENCY

Immunodeficiency due to a classical component pathway complement deficiency is a primary immunodeficiency due to a deficiency in either complement components C1q, C1r, C1s, C2 or C4 characterized by increased susceptibility to bacterial infections, particularly with encapsulated bacteria, and increased risk for autoimmune disease. Most commonly, these include systemic lupus erythematosus (SLE), SLE-like disease, Henoch-Schonlein purpura, polymyositis and arthralgia. Disease severity is variable and dependent on the complement affected.

IMMUNODEFICIENCY DUE TO A CLASSICAL COMPONENT PATHWAY COMPLEMENT DEFICIENCY Is also known as immunodeficiency due to c1, c4, or c2 component complement deficiency|immunodeficiency due to an early component of complement deficiency

Related symptoms:

  • Pain
  • Cataract
  • Fever
  • Renal insufficiency
  • Immunodeficiency


SOURCES: OMIM ORPHANET MENDELIAN

More info about IMMUNODEFICIENCY DUE TO A CLASSICAL COMPONENT PATHWAY COMPLEMENT DEFICIENCY

Top 5 symptoms//phenotypes associated to Immunodeficiency and Corneal opacity

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Recurrent infections Common - Between 50% and 80% cases
Short stature Uncommon - Between 30% and 50% cases
Microphthalmia Uncommon - Between 30% and 50% cases
Microcephaly Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Immunodeficiency and Corneal opacity. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Growth delay Astigmatism Seizures Depressed nasal bridge Global developmental delay Scoliosis Hearing impairment Abnormality of the dentition Inguinal hernia Cataract Recurrent bacterial infections Autoimmunity Abnormality of the kidney Hypertelorism Cleft palate Hydrocephalus Kyphosis Short neck Fever Myopia Cognitive impairment Umbilical hernia Pain Erythema Abnormal facial shape Hypoplasia of the corpus callosum Ventriculomegaly Frontal bossing Keratitis Intrauterine growth retardation Delayed skeletal maturation Low-set ears Cryptorchidism Recurrent respiratory infections

Rare Symptoms - Less than 30% cases

Arthritis Dementia Amblyopia Corneal erosion Absent eyelashes Proteinuria Myelomeningocele Osteopenia Hypothyroidism Pneumonia Motor delay Thrombocytopenia Abnormality of the gingiva Abnormality of the thymus Delayed speech and language development Behavioral abnormality Anemia Cerebellar atrophy Renal insufficiency Scarring Developmental regression Nystagmus Mental deterioration Hydronephrosis Specific learning disability Renal dysplasia Hypohidrosis Macrotia Hyperhidrosis Psoriasiform dermatitis Hernia Intellectual disability, severe Flexion contracture Muscular hypotonia Arthralgia Respiratory tract infection Unilateral renal agenesis Intellectual disability, mild Malar flattening Glomerulopathy Glomerulonephritis Opacification of the corneal stroma Brain atrophy Gliosis Nephropathy Bulbous nose Platyspondyly Hip dislocation Absent eyebrow Strabismus Intestinal obstruction Abnormal heart morphology Severe short stature Posteriorly rotated ears Prominent forehead Dental malocclusion Postaxial polydactyly Pulmonary hypoplasia Micropenis Abnormality of the pinna Cleft lip High palate Myopathy Thin upper lip vermilion Cellular immunodeficiency Tetany Hypoparathyroidism Deeply set eye Bifid uvula Delayed myelination Hypocalcemia Abnormality of dental enamel Renal agenesis Polydactyly Generalized hypotonia Oligohydramnios Failure to thrive Micrognathia Hemolytic anemia Accommodative esotropia Esophoria Right aortic arch with mirror image branching Meningitis Arteria lusoria Aplasia of the thymus Systemic lupus erythematosus Microscopic hematuria Facial erythema Conotruncal defect Hematuria Membranoproliferative glomerulonephritis Vascular tortuosity IgA deposition in the glomerulus Hypertonia Abnormality of the middle ear Retinal vascular tortuosity Duodenal stenosis Perisylvian polymicrogyria Abnormality of cardiovascular system morphology Impaired T cell function Hepatitis Atrial septal defect Sacral meningocele Epicanthus Splenomegaly Ptosis Talipes equinovarus Abnormality of the skeletal system Gait disturbance Optic atrophy Macrocephaly Skeletal muscle atrophy Dysarthria Hyperreflexia Hepatomegaly Spasticity Alcoholism Decreased number of small peripheral myelinated nerve fibers Muscle weakness Sensorineural hearing impairment Ataxia Type I truncus arteriosus Parathyroid agenesis Lymphadenopathy Skin rash Ventricular septal defect Parathyroid hypoplasia Decreased circulating parathyroid hormone level Right aortic arch Obesity Femoral hernia Spina bifida Rheumatoid arthritis Short philtrum Cholelithiasis Microtia Nasal speech Generalized tonic-clonic seizures Arnold-Chiari malformation Schizophrenia Bicuspid aortic valve Purpura Exotropia Inflammation of the large intestine Loss of eyelashes Broad thumb Primary amenorrhea Short palpebral fissure Low posterior hairline Coarctation of aorta Tetralogy of Fallot Polymicrogyria Amenorrhea Chorea Iris coloboma Acne Attention deficit hyperactivity disorder High, narrow palate Cerebral atrophy Perimembranous ventricular septal defect Interrupted aortic arch Patent ductus arteriosus Graves disease Aplasia of the uterus Narrow mouth Hypoplasia of the thymus Anterior segment developmental abnormality Seborrheic dermatitis Juvenile rheumatoid arthritis Retrognathia Truncus arteriosus Blepharophimosis Macroscopic hematuria Telecanthus Sclerocornea Craniosynostosis Meningocele Vitiligo Discoid lupus rash Bipolar affective disorder Posterior embryotoxon Autoimmune thrombocytopenia Autoimmune hemolytic anemia Abnormal blistering of the skin Kyphoscoliosis Midface retrusion Abnormality of the sternum Abnormality of the helix Reduced ejection fraction Hydrocele testis Dysostosis multiplex Impaired smooth pursuit Delusions Patellar dislocation Severe sensorineural hearing impairment Aseptic necrosis Limb dystonia Bronchitis Thickened calvaria Femoral bowing Craniofacial hyperostosis Immune dysregulation Recurrent sinopulmonary infections Neurodevelopmental delay IgM deficiency Enterocolitis Bowel incontinence Bronchiolitis Open bite Bowing of the legs Flat occiput Interstitial pneumonitis Heart murmur Spondylolisthesis Abnormality of the rib cage Sensory neuropathy IgA deficiency Spinocerebellar tract disease in lower limbs Flattened moderately deformed vertebrae Synovial hypertrophy Progressive joint destruction Abnormality of dental structure Cellulitis Antineutrophil antibody positivity Abnormality of joint mobility Abnormality of the ilium Hypoplastic inferior ilia Decreased pulmonary function Generalized abnormality of skin Increased hepatic glycogen content Abnormal cornea morphology Increased vertebral height Spondylolysis Oligosacchariduria Synostosis of joints Cerebral dysmyelination Retinal thinning Long ear Ulcerative colitis Cranial hyperostosis Vacuolated lymphocytes Thoracolumbar kyphosis Abnormal echocardiogram Synovitis Peripheral neuropathy Anhidrosis Depressivity Abnormality of the cerebral white matter Progressive cerebellar ataxia Macroglossia Neurodegeneration Highly arched eyebrow Thick eyebrow Retinal degeneration Confusion Dysmetria Genu valgum Painless fractures due to injury Abnormality of the foot Hypermetropia Neurological speech impairment Decreased antibody level in blood Broad forehead Pectus carinatum Anxiety Hepatosplenomegaly Coarse facial features Skeletal dysplasia Acral ulceration Colitis Mandibular prognathia Gait ataxia Babinski sign Areflexia Impaired temperature sensation Otitis media Osteomyelitis Spastic gait Prematurely aged appearance Impaired pain sensation Chronic otitis media Episodic fever Premature loss of teeth Prominent supraorbital ridges Self-mutilation Increased intracranial pressure Neoplasm Narrow palate Poor wound healing Low anterior hairline Pain insensitivity Hip dysplasia Hallucinations Limb ataxia Gingival overgrowth Tall stature Bowing of the long bones Progressive neurologic deterioration Hypertrichosis Depressed nasal ridge Psychosis Pancytopenia Type II diabetes mellitus Optic disc pallor Peripheral demyelination Widely spaced teeth Abnormality of the nail Unilateral chest hypoplasia Lacrimal duct aplasia Vomiting Cardiomyopathy Hypertension Abnormality of the umbilicus Aplasia/Hypoplasia of the sternum Malformed lacrimal duct Extension of hair growth on temples to lateral eyebrow Laryngeal atresia Abnormality of the small intestine Severe T-cell immunodeficiency Wide pubic symphysis Midline nasal groove Hypoplastic superior helix Congestive heart failure Morphological abnormality of the middle ear Aplasia/Hypoplasia of the phalanges of the hand Laryngeal web Cryptophthalmos Cleft ala nasi Difficulty in tongue movements Urethral atresia Abnormality of the nares Upper eyelid coloboma Laryngeal stenosis Abnormality of the anus Bilateral renal agenesis Diarrhea Headache Bilateral microphthalmos Lumbar hyperlordosis Reduced bone mineral density Azoospermia Hyperlipidemia Atherosclerosis Bone marrow hypocellularity Lymphopenia Abnormality of epiphysis morphology Heterotopia Abnormal form of the vertebral bodies Abnormal lung morphology Fine hair Intellectual disability, profound Nephrotic syndrome Hyperlordosis Microdontia Decreased testicular size Waddling gait Lymphoma Premature birth Migraine Abnormal cerebellum morphology Neutropenia Abnormality of skin pigmentation Stage 5 chronic kidney disease Malabsorption Stroke Subglottic stenosis Gonadoblastoma Chronic kidney disease Hypoplasia of penis Syndactyly Blindness Wide nasal bridge Patchy osteosclerosis Congenital hypoparathyroidism Hypocalcemic seizures Aplasia/Hypoplasia affecting the eye Decreased circulating cortisol level Hyperphosphatemia Severe intrauterine growth retardation External ear malformation Spinal canal stenosis Convex nasal ridge Conductive hearing impairment Growth hormone deficiency Short foot Small hand Short palm Thin vermilion border Small for gestational age Postnatal growth retardation Low-set, posteriorly rotated ears Muscular hypotonia of the trunk High forehead Hypogonadism Long philtrum Hypospadias Finger syndactyly Vaginal atresia Cupped ear Bicornuate uterus Abnormal cortical gyration Calvarial skull defect Choanal stenosis Postaxial foot polydactyly Foot polydactyly Anal stenosis Facial cleft Gonadal dysgenesis Aplasia/Hypoplasia of the thumb Cutaneous finger syndactyly Anophthalmia Clitoral hypertrophy Anal atresia Atresia of the external auditory canal Abnormality of the urinary system Renal hypoplasia/aplasia Cutaneous syndactyly Dental crowding Encephalocele Renal hypoplasia Ambiguous genitalia Wide intermamillary distance Underdeveloped nasal alae Wide nose Cleft upper lip Coarse hair Encephalitis Ichthyosis follicularis Abnormality of the hand Oligodactyly Ectrodactyly Atonic seizures Congenital ichthyosiform erythroderma Abnormality of the vertebral column Absent septum pellucidum Mixed hearing impairment Hydroureter Bifid scrotum Erythroderma Scaling skin Urticaria Plagiocephaly Uveitis Conjunctivitis Hemivertebrae Multicystic kidney dysplasia Abnormality of the hair Abnormal vertebral morphology Hypoplasia of dental enamel Aganglionic megacolon Omphalocele Choanal atresia Epidermal acanthosis Abnormality of the ribs Eczema Submucous cleft hard palate Parakeratosis Nail dysplasia Abnormality of the upper urinary tract Abnormal pelvis bone morphology Thin fingernail Scleritis Hypoplasia of the bladder Cerebral cortical hemiatrophy Paronychia Episcleritis Hyperconvex fingernails Abnormality of temperature regulation Abnormal nasolacrimal system morphology Subcortical cerebral atrophy Corneal scarring Cheilitis Alopecia of scalp Alopecia universalis Oxycephaly Thin eyebrow Alopecia totalis Olivopontocerebellar atrophy Recurrent corneal erosions Hypoplastic fingernail Heat intolerance Follicular hyperkeratosis Abnormal eyelid morphology Abnormal eyelash morphology Blepharitis Postaxial hand polydactyly Ectodermal dysplasia Glomerulosclerosis Transient ischemic attack Arteriosclerosis Right ventricular cardiomyopathy Dentinogenesis imperfecta Subvalvular aortic stenosis Precocious atherosclerosis Cerebral ischemia Villous atrophy Lymphoproliferative disorder B-cell lymphoma Disproportionate short-trunk short stature Ovoid vertebral bodies Thoracic kyphosis Abnormality of the vasculature Mucopolysacchariduria Protuberant abdomen Multiple cafe-au-lait spots Steatorrhea Hypermelanotic macule Combined immunodeficiency High pitched voice Emphysema Focal segmental glomerulosclerosis Spondyloepiphyseal dysplasia Melanocytic nevus Nephritis Epiphyseal dysplasia Hypoplasia of the capital femoral epiphysis Multiple lentigines Palmoplantar keratoderma Cerebellar hypoplasia Ichthyosis Dry skin Talipes Hypotrichosis Nail dystrophy Papule Camptodactyly of finger Camptodactyly Photophobia Hyperkeratosis Cerebral cortical atrophy Agenesis of corpus callosum Alopecia Steroid-resistant nephrotic syndrome Dilatation Respiratory distress Feeding difficulties Lateral displacement of the femoral head Nephrosclerosis Anterior pituitary dysgenesis Premature arteriosclerosis Moyamoya phenomenon Abnormal immunoglobulin level Abnormal T cell morphology Encephalomalacia Increased thyroid-stimulating hormone level Shallow acetabular fossae Decreased serum complement factor I


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