Hypertension, and High myopia

Diseases related with Hypertension and High myopia

In the following list you will find some of the most common rare diseases related to Hypertension and High myopia that can help you solving undiagnosed cases.

Top matches:

Quigley (1993) reviewed adult-onset primary open angle glaucoma, which combines a particular abnormal appearance of the optic disc (optic nerve head) with a slowly progressive loss of visual sensitivity. Many patients with glaucoma have intraocular pressures above the normal range, although this cannot be considered part of the definition of the disease, since some patients have normal intraocular pressures. Changes in the optic disc, either inherited or acquired, contribute to the development of the disorder, which leads to visual loss from increasing nerve fiber layer atrophy. Quigley et al. (1994) stated that POAG should be reviewed as a multifactorial disorder. Genetic Heterogeneity of Primary Open Angle GlaucomaOther forms of primary open angle glaucoma include GLC1A (OMIM ), caused by mutation in the MYOC gene (OMIM ) on chromosome 1q24.3-q25.2; GLC1B (OMIM ) on chromosome 2cen-q13; GLC1C (OMIM ) on chromosome 3q21-q24; GLC1D (OMIM ) on chromosome 8q23; GLC1F (OMIM ), caused by mutation in the ASB10 gene on chromosome 7q36; GLC1G (OMIM ), caused by mutation in the WDR36 gene (OMIM ) on chromosome 5q22; GLC1H (OMIM ) on chromosome 2p16-p15; GLC1I (OMIM ) on chromosome 15q11-q13; GLC1J (OMIM ) on chromosome 9q22; GLC1K (OMIM ) on chromosome 20p12; GLC1L (see {137750}) on chromosome 3p22-p21; GLC1M (OMIM ) on chromosome 5q22; GLC1N (OMIM ) on chromosome 15q22-q24; GLC1O (OMIM ), caused by mutation in the NTF4 gene (OMIM ) on chromosome 19q13.3; GLC1P (OMIM ), caused by an approximately 300-kb duplication on chromosome 12q24, most likely involving the TBK1 gene (OMIM ).Nail-patella syndrome (NPS ), which is caused by mutation in the LMX1B gene (OMIM ) on chromosome 9q34, has open angle glaucoma as a pleiotropic feature. Other Forms of GlaucomaFor a general description and a discussion of genetic heterogeneity of congenital forms of glaucoma, see GLC3A (OMIM ).See {606657} for a discussion of normal tension glaucoma (NTG) or normal pressure glaucoma (NPG), a subtype of POAG.

Related symptoms:

  • Hypertension
  • Peripheral neuropathy
  • Myopia
  • Optic atrophy
  • Blindness


SOURCES: OMIM MENDELIAN

More info about GLAUCOMA, PRIMARY OPEN ANGLE; POAG

Progeroid and marfanoid aspect-lipodystrophy syndrome is a rare systemic disease characterized by a neonatal progeroid appearance (not associated with other manifestations of premature aging) associated with facial dysmorphism (e.g. macrocephaly or arrested hydrocephaly, proptosis, downslanting palpebral fissures, retrognathia), generalized, extreme, congenital lack of subcutaneous fat tissue (except in the breast and iliac region) and incomplete signs of Marfan syndrome (mainly severe myopia, joint hyperextensibility and arachnodactyly). Metabolic disturbances are not associated.

PROGEROID AND MARFANOID ASPECT-LIPODYSTROPHY SYNDROME Is also known as marfanoid-progeroid syndrome|marfan-progeroid-lipodystrophy syndrome

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Abnormal facial shape
  • Hypertension
  • Myopia


SOURCES: ORPHANET OMIM MENDELIAN

More info about PROGEROID AND MARFANOID ASPECT-LIPODYSTROPHY SYNDROME

Spondyloepiphyseal dysplasia congenita is an autosomal dominant chondrodysplasia characterized by disproportionate short stature (short trunk), abnormal epiphyses, and flattened vertebral bodies. Skeletal features are manifested at birth and evolve with time. Other features include myopia and/or retinal degeneration with retinal detachment and cleft palate (summary by Anderson et al., 1990).

SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA; SEDC Is also known as sed congenita|spondyloepiphyseal dysplasia, congenital type

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA; SEDC

Other less relevant matches:

The Cornelia de Lange syndrome (CDLS) is a multisystem malformation syndrome recognized primarily on the basis of characteristic facial dysmorphism, including low anterior hairline, arched eyebrows, synophrys, anteverted nares, maxillary prognathism, long philtrum, thin lips, and 'carp' mouth, in association with prenatal and postnatal growth retardation, mental retardation and, in many cases, upper limb anomalies. However, there is wide clinical variability in this disorder, with milder phenotypes that may be difficult to ascertain on the basis of physical features (summary by Rohatgi et al., 2010).Boyle et al. (2015) provided a detailed review of CDLS, including clinical features, diagnosis, and genetic counseling. Genetic Heterogeneity of Cornelia de Lange SyndromeAbout 50 to 60% of the cases of CDLS are due to mutation in the NIPBL gene (Musio et al., 2006; Rohatgi et al., 2010).One X-linked form of CDLS (CDLS2 ) is caused by mutation in the SMC1A gene (OMIM ), which accounts for about 5% of cases. Two milder variants of Cornelia de Lange syndrome have been identified: CDLS3 (OMIM ), caused by mutation in the SMC3 gene (OMIM ), and CDLS4 (OMIM ), caused by mutation in the RAD21 gene (OMIM ). All 4 genes, NIPBL, SMC1A, SMC3, and RAD21, encode components of the cohesin complex. Another X-linked form, CDLS5 (OMIM ), is caused by mutation in the HDAC8 gene (OMIM ), the vertebrate histone deacetylase of SMC3.

CORNELIA DE LANGE SYNDROME 1; CDLS1 Is also known as typus degenerativus amstelodamensis|brachmann-de lange syndrome|cdl|de lange syndrome|cdls|bdls

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CORNELIA DE LANGE SYNDROME 1; CDLS1

Medium match JUVENILE GLAUCOMA

Juvenile glaucoma (JG) is a rare autosomal dominant open angle glaucoma, characterized by early onset, severe elevation of intra ocular pressure of rapid progression, leading to optic nerve excavation and, when untreated, substantial visual impairment.

JUVENILE GLAUCOMA Is also known as glaucoma, primary open angle, juvenile-onset, 1|joag1

Related symptoms:

  • Hypertension
  • Peripheral neuropathy
  • Myopia
  • Blindness
  • Visual loss


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about JUVENILE GLAUCOMA

Alport syndrome is a hereditary disorder of the basement membrane, resulting in a glomerulonephropathy causing renal failure. Progressive deafness and ocular anomalies may also occur (Mochizuki et al., 1994; Colville et al. (1997)). For a general phenotypic description of Alport syndrome, see the X-linked dominant form (OMIM ). Approximately 85% of cases of Alport syndrome are X-linked and about 15% are autosomal recessive; autosomal dominant inheritance (OMIM ) is rare (van der Loop et al., 2000).See also benign familial hematuria (BFH ), a similar but milder disorder.

Related symptoms:

  • Hearing impairment
  • Failure to thrive
  • Sensorineural hearing impairment
  • Cataract
  • Hypertension


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE ALPORT SYNDROME

Alport syndrome classically comprises nephritis, often progressing to renal failure, and sensorineural hearing loss (Alport, 1927). For a general phenotypic description of Alport syndrome, see the X-linked dominant form (OMIM ). Approximately 85% of cases of Alport syndrome are X-linked and about 15% are autosomal recessive (OMIM ); autosomal dominant inheritance is rare (van der Loop et al., 2000).Also see benign familial hematuria (BFH ), a similar but milder disorder also caused by mutation in the COL4A3 gene.An autosomal dominant disorder sharing the clinical features of Alport syndrome but with the addition of macrothrombocytopenia, known as Fechtner syndrome (OMIM ), is caused by mutation in the MYH9 gene (OMIM ) on chromosome 22q11.

Related symptoms:

  • Hearing impairment
  • Sensorineural hearing impairment
  • Hypertension
  • Myopia
  • Renal insufficiency


SOURCES: OMIM MENDELIAN

More info about ALPORT SYNDROME, AUTOSOMAL DOMINANT

Glaucoma secondary to spherophakia/ectopia lentis and megalocornea is a rare, genetic, non-syndromic developmental defect of the eye disorder characterized by congenital megalocornea associated with spherophakia and/or ectopia lentis leading to pupillary block and secondary glaucoma. Additional features may include flat irides, iridodonesis, axial myopia, very deep anterior chambers, miotic, oval pupils without well-defined borders, ocular pain and irritability manifesting as conjunctival injection, corneal edema and central scarring, as well as a high arched palate.

GLAUCOMA SECONDARY TO SPHEROPHAKIA/ECTOPIA LENTIS AND MEGALOCORNEA Is also known as megalocornea-spherophakia-secondary glaucoma syndrome

Related symptoms:

  • High palate
  • Visual impairment
  • Hypertension
  • Myopia
  • Pectus excavatum


SOURCES: OMIM ORPHANET MENDELIAN

More info about GLAUCOMA SECONDARY TO SPHEROPHAKIA/ECTOPIA LENTIS AND MEGALOCORNEA

Related symptoms:

  • Scoliosis
  • High palate
  • Visual impairment
  • Hypertension
  • Myopia


SOURCES: OMIM MENDELIAN

More info about PSEUDOXANTHOMA ELASTICUM, FORME FRUSTE

Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013).There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, {218330}).For a discussion of genetic heterogeneity of short-rib thoracic dysplasia, see SRTD1 (OMIM ).

SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY; SRTD5 Is also known as atd5|asphyxiating thoracic dystrophy 5

Related symptoms:

  • Growth delay
  • Cataract
  • Hypertension
  • Brachydactyly
  • Myopia


SOURCES: OMIM MENDELIAN

More info about SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY; SRTD5

Top 5 symptoms//phenotypes associated to Hypertension and High myopia

Symptoms // Phenotype % cases
Myopia Very Common - Between 80% and 100% cases
Glaucoma Uncommon - Between 30% and 50% cases
Proteinuria Uncommon - Between 30% and 50% cases
Visual loss Uncommon - Between 30% and 50% cases
Sensorineural hearing impairment Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Hypertension and High myopia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Hearing impairment Growth delay Respiratory tract infection Cataract High, narrow palate Scoliosis Failure to thrive Stage 5 chronic kidney disease High palate

Rare Symptoms - Less than 30% cases

Nystagmus Generalized hypotonia Cleft palate Short neck Respiratory distress Thin upper lip vermilion Kyphosis Peripheral neuropathy Hernia Severe short stature Hypertelorism Micromelia Polydactyly Glomerulonephritis Renal insufficiency Hematuria Nephrotic syndrome Nephritis Microscopic hematuria Thickening of the glomerular basement membrane Diffuse glomerular basement membrane lamellation Rhizomelia Hip dislocation Visual impairment Limb undergrowth Retinal detachment Pulmonary hypoplasia Intellectual disability Narrow chest Inguinal hernia Short stature Talipes equinovarus Pes valgus Intrauterine growth retardation Increased body weight Tall stature Open angle glaucoma Proptosis Mitral valve prolapse Abnormal facial shape Macrocephaly Relative macrocephaly Hydrocephalus Arachnodactyly Prominent nasal bridge Craniosynostosis Pectus excavatum Retrognathia Gastroesophageal reflux Blue sclerae Prominent forehead Optic neuropathy Renal hypoplasia Blindness Ectopia lentis Optic atrophy Sepsis Dislocated radial head Gastroparesis Supernumerary ribs Hypoplastic nipples Oligodactyly Ectrodactyly Poor appetite Phocomelia Hand oligodactyly Perimembranous ventricular septal defect Esophagitis Hiatus hernia Aspiration pneumonia Optic nerve coloboma Short sternum Triangular face Hypoplastic labia majora Peters anomaly Panhypopituitarism Volvulus Recurrent hypoglycemia Thick upper lip vermilion Abnormality of the gastrointestinal tract Opisthotonus Weak cry Recurrent urinary tract infections Deep philtrum Incoordination Low posterior hairline Abnormality of the urinary system Hypertrichosis Choanal atresia Long eyelashes Short metatarsal Aspiration Low anterior hairline Elbow flexion contracture Spontaneous abortion Hypoplasia of the radius Widely spaced teeth Curly eyelashes Congenital diaphragmatic hernia Abnormality of digit Short middle phalanx of finger Limited elbow extension Torticollis Ectopic kidney Vesicoureteral reflux 2-3 toe syndactyly Webbed neck Cutis marmorata Microdontia Tricuspid regurgitation Clubbing Proximal placement of thumb Self-injurious behavior Pyloric stenosis Otitis media Absent hand Anterior polar cataract Hypoplastic male external genitalia Peau d'orange Increased arm span Axial myopia Reduced visual acuity Skin rash Gastrointestinal hemorrhage Macular degeneration Cerebral hemorrhage Abnormality of the sternum Angina pectoris Arteriosclerosis Retinal hemorrhage Intermittent claudication Angioid streaks of the fundus Calcification of falx cerebri Medial calcification of large arteries Primary congenital glaucoma Premature occlusive vascular stenosis Medial calcification of medium-sized arteries Yellow papule Brachydactyly Respiratory insufficiency Cleft lip Oral cleft Short foot Full cheeks Short ribs Metaphyseal widening Elevated serum creatinine Thoracic dysplasia Short iliac bones Deep anterior chamber Microspherophakia Esophageal stenosis Corneal erosion Hypertropia Left-to-right shunt Projectile vomiting Duplication of internal organs Malrotation of colon Otitis media with effusion Reduced renal corticomedullary differentiation Abnormality of the umbilicus Hypoplastic radial head Dysplastic tricuspid valve Abnormality of skin pigmentation Abnormal iris vasculature Abnormality of the kidney Bilateral sensorineural hearing impairment Anterior lenticonus Iridodonesis Blurred vision Iris atrophy Anterior synechiae of the anterior chamber Homocystinuria Buphthalmos Megalocornea Congenital glaucoma Hypermetropia Myocardial infarction Lenticonus Azotemia Microcornea Macrothrombocytopenia Hypophosphatemia Nephrocalcinosis Renal cyst Autism Delayed eruption of teeth Osteoarthritis Sleep apnea Coxa vara Abnormality of epiphysis morphology Abnormal form of the vertebral bodies Abnormality of the metaphysis Abnormal lung morphology Lumbar hyperlordosis Genu varum Waddling gait Limitation of joint mobility Flat face Retinal degeneration Paresthesia Genu valgum Growth abnormality Back pain Broad forehead Vitreoretinopathy Cervical myelopathy Flattened epiphysis Limited elbow movement Myelopathy Ovoid vertebral bodies Barrel-shaped chest Hypoplasia of the odontoid process Spondyloepiphyseal dysplasia Disproportionate short stature Progressive sensorineural hearing impairment Restrictive ventilatory defect Short thorax Vestibular dysfunction Bowing of the legs Platyspondyly Pectus carinatum Retinoschisis Cutis laxa Severe intrauterine growth retardation Scaphocephaly Aortic root aneurysm Reduced subcutaneous adipose tissue Aortic aneurysm Lipodystrophy Oligohydramnios Progeroid facial appearance Premature birth Bruising susceptibility Arthrogryposis multiplex congenita Pes planus Dilatation Downslanted palpebral fissures Narrow nose Entropion Autoimmunity Congestive heart failure Hyperlordosis Apnea Arthritis Skeletal dysplasia Midface retrusion Malar flattening Gait disturbance Hyperextensibility of the finger joints Pain Muscular hypotonia Muscle weakness Prominent scalp veins Narrow palm Dural ectasia Limited hip movement Delayed pubic bone ossification Sleep disturbance Hypoglycemia Abnormality of the pinna Camptodactyly Telecanthus Hypertrophic cardiomyopathy Aggressive behavior Conductive hearing impairment Mandibular prognathia Pallor Narrow mouth Hyperactivity Brachycephaly Hyperhidrosis Pneumonia Clinodactyly of the 5th finger Postnatal growth retardation Autistic behavior Abnormal heart morphology Thick eyebrow Tapered finger Single transverse palmar crease Highly arched eyebrow Small hand Downturned corners of mouth Hirsutism Thin vermilion border Small for gestational age Cleft upper lip Vertigo Astigmatism Toe syndactyly Pulmonic stenosis Synophrys Delayed skeletal maturation Clinodactyly Sciatica Micrognathia Feeding difficulties Anemia Low-set ears Ptosis Cryptorchidism Strabismus Neoplasm Depressed nasal bridge Microcephaly Global developmental delay Seizures Delayed calcaneal ossification Limitation of knee mobility Neonatal short-trunk short stature Delayed speech and language development Wide nasal bridge Hypospadias Abnormality of the dentition Thrombocytopenia Headache Syndactyly Long philtrum Behavioral abnormality Hypertonia Vomiting Fever Intellectual disability, severe Atrial septal defect Cardiomyopathy Anteverted nares Ventricular septal defect Abnormality of the skeletal system Chronic tubulointerstitial nephritis


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