Hypertension, and Hip dislocation

Diseases related with Hypertension and Hip dislocation

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

Top matches:

Glycine encephalopathy with normal serum glycine is a severe metabolic disorder characterized by arthrogryposis multiplex congenita, joint hyperlaxity, lack of neonatal respiratory effort, axial hypotonia, hypertonia with pronounced clonus, and delayed psychomotor development. Some patients may have dysmorphic facial features and/or brain imaging abnormalities. Laboratory studies show increased CSF glycine and normal or only mildly increased serum glycine. Most patients die in infancy. The disorder is similar to, but distinct from, glycine encephalopathy (GCE ) due to mutations in genes encoding the glycine cleavage system (summary by Kurolap et al., 2016).

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Failure to thrive
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE

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

Autosomal recessive cutis laxa, type 1 (ARCL1) is a generalized connective tissue disorder characterized by the association of wrinkled, redundant and sagging inelastic skin with severe systemic manifestations (lung atelectesias and emphysema, vascular anomalies, and gastrointestinal and genitourinary tract diverticuli).

AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 1 Is also known as arcl1|autosomal recessive cutis laxa with severe systemic involvement|cutis laxa, autosomal recessive|autosomal recessive cutis laxa, pulmonary emphysema type

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Sensorineural hearing impairment


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 1

Other less relevant matches:

Arterial tortuosity syndrome (ATS) is a rare connective tissue disorder characterized by tortuosity and elongation of the large and medium-sized arteries and a propensity towards aneurysm formation, vascular dissection, and stenosis of the pulmonary arteries.

ARTERIAL TORTUOSITY SYNDROME Is also known as ats

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Scoliosis
  • Hypertelorism
  • Strabismus


SOURCES: ORPHANET MENDELIAN

More info about ARTERIAL TORTUOSITY SYNDROME

Singleton-Merten dysplasia is characterized by dental dysplasia, progressive calcification of the thoracic aorta with stenosis, osteoporosis and expansion of the marrow cavities in hand bones. Additional features included generalized muscle weakness and atrophy, and chronic psoriasiform skin eruptions. It has been reported in four unrelated patients (male and female) and in a family with multiple affected members (male).

SINGLETON-MERTEN DYSPLASIA Is also known as singleton-merten syndrome

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Growth delay
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about SINGLETON-MERTEN DYSPLASIA

Galloway-Mowat syndrome is a renal-neurologic disease characterized by early-onset nephrotic syndrome associated with microcephaly, gyral abnormalities of the brain, and delayed psychomotor development. Most patients have dysmorphic facial features, often including hypertelorism, ear abnormalities, and micrognathia. Other features, such as arachnodactyly and visual impairment, are more variable. Most patients die in the first years of life (summary by Braun et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of GAMOS, see GAMOS1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about GALLOWAY-MOWAT SYNDROME 3; GAMOS3

Complex IV (cytochrome c oxidase; {EC 1.9.3.1}) is the terminal enzyme of the respiratory chain and consists of 13 polypeptide subunits, 3 of which are encoded by mitochondrial DNA. The 3 mitochondrially encoded proteins in the cytochrome oxidase complex are the actual catalytic subunits that carry out the electron transport function (Saraste, 1983). See {123995} for discussion of some of the nuclear-encoded subunits.Shoubridge (2001) provided a comprehensive review of cytochrome c oxidase deficiency and noted that most isolated COX deficiencies are inherited as autosomal recessive disorders caused by mutations in nuclear-encoded genes; mutations in the mtDNA-encoded COX subunit genes are relatively rare.

ISOLATED CYTOCHROME C OXIDASE DEFICIENCY Is also known as isolated mitochondrial respiratory chain complex iv deficiency|cox deficiency|isolated cox deficiency|cytochrome c oxidase deficiency

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about ISOLATED CYTOCHROME C OXIDASE DEFICIENCY

SCHWARTZ-JAMPEL SYNDROME, TYPE 1; SJS1 Is also known as sja syndrome|schwartz-jampel-aberfeld syndrome|sjs|myotonic myopathy, dwarfism, chondrodystrophy, and ocular and facial abnormalities|schwartz-jampel syndrome|chondrodystrophic myotonia

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Microcephaly
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about SCHWARTZ-JAMPEL SYNDROME, TYPE 1; SJS1

Benign chronic familial pemphigus of Hailey-Hailey is characterized by rhagades mostly located in the armpits, inguinal and perineal folds (scrotum, vulva).

FAMILIAL BENIGN CHRONIC PEMPHIGUS Is also known as poikiloderma atrophicans and cataract|hailey-hailey disease|benign chronic familial pemphigus of hailey-hailey

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Growth delay
  • Neoplasm


SOURCES: OMIM ORPHANET MENDELIAN

More info about FAMILIAL BENIGN CHRONIC PEMPHIGUS

Combined methylmalonic aciduria (MMA) and homocystinuria is a genetically heterogeneous disorder of cobalamin (cbl; vitamin B12) metabolism. The defect causes decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl), which results in decreased activity of the respective enzymes methylmalonyl-CoA mutase (MUT ) and methyltetrahydrofolate:homocysteine methyltransferase, also known as methionine synthase (MTR ). Different forms of the disorder have been classified according to complementation groups of cells in vitro: cblC, cblD (OMIM ), cblF (OMIM ), and cblJ (OMIM ).Isolated methylmalonic acidurias have also been classified by complementation groups: MMA 'mut' (OMIM ) is caused by mutation in the MUT gene on chromosome 6p21; MMA cblA (OMIM ) is caused by mutation in the MMAA gene (OMIM ) on 4q31; and MMA cblB (OMIM ) is caused by mutation in the MMAB gene (OMIM ) on 12q24.Methylmalonic aciduria and homocystinuria, cblC type, is the most common inborn error of vitamin B12 (cobalamin) metabolism, with about 250 known cases (Lerner-Ellis et al., 2006). Affected individuals may have developmental, hematologic, neurologic, metabolic, ophthalmologic, and dermatologic clinical findings. Although considered a disease of infancy or childhood, some individuals develop symptoms in adulthood (Rosenblatt et al., 1997).

METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE; MAHCC Is also known as vitamin b12 metabolic defect with combined deficiency of methylmalonyl-coa mutase and homocysteine:methyltetrahydrofolate methyltransferase|methylmalonic aciduria and homocystinuria, vitamin b12-responsive|methylmalonic acidemia and homocystinuria, cblc t

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE; MAHCC

Top 5 symptoms//phenotypes associated to Hypertension and Hip dislocation

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Abnormal facial shape Common - Between 50% and 80% cases
Growth delay Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Hypertension and Hip dislocation. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Microcephaly

Uncommon Symptoms - Between 30% and 50% cases

Short stature Talipes equinovarus Muscle weakness Respiratory distress Congestive heart failure Anemia Muscular hypotonia Hearing impairment Ptosis Apnea Sensorineural hearing impairment Osteoporosis Myopia Cataract Failure to thrive Strabismus Low-set ears Skeletal dysplasia Micrognathia Coxa valga Coxa vara Scoliosis Glaucoma Proteinuria Feeding difficulties Hypertelorism Nystagmus Midface retrusion Malar flattening Cryptorchidism Flat face Dilatation Congenital hip dislocation Kyphoscoliosis Respiratory failure Joint laxity Arachnodactyly Broad forehead Ventriculomegaly Inguinal hernia Flexion contracture Abnormality of the skeletal system Seizures Skeletal muscle atrophy

Rare Symptoms - Less than 30% cases

Pulmonary arterial hypertension Prematurely aged appearance Cutaneous photosensitivity Recurrent urinary tract infections Microcornea Hypertrophic cardiomyopathy Smooth philtrum Waddling gait Myotonia Lumbar hyperlordosis Sleep apnea Blepharophimosis Generalized muscle weakness Macrotia Short nose Progressive sensorineural hearing impairment Camptodactyly Cor pulmonale Long face Pectus excavatum Visual impairment Arterial stenosis Myelopathy Arrhythmia Recurrent respiratory infections Umbilical hernia Oligohydramnios Joint hyperflexibility Hemolytic anemia Microphthalmia Narrow mouth Recurrent fractures Full cheeks Pulmonary artery stenosis Spasticity Osteopenia Apathy Hepatic steatosis Respiratory insufficiency Hand clenching Myopathy Hip contracture Weak cry Vomiting Acidosis Elbow flexion contracture Hip dysplasia Metabolic acidosis Pain Muscular hypotonia of the trunk Encephalopathy Aciduria Hypoplasia of the corpus callosum Anteverted nares Dysphagia Optic atrophy Hyperreflexia Pigmentary retinopathy Cleft palate Pyloric stenosis Redundant skin Hernia Retinal degeneration Paresthesia Hemiplegia Genu valgum Short palpebral fissure Platyspondyly Pectus carinatum Aortic aneurysm Arthritis Severe short stature Ataxia Short neck Kyphosis Weak voice Frontal bossing Abnormal autonomic nervous system physiology EMG abnormality Coronal cleft vertebrae Shoulder flexion contracture Talipes valgus Generalized muscle hypertrophy Generalized hirsutism Constrictive median neuropathy Blepharospasm Narrow palpebral fissure Malignant hyperthermia Temperature instability Neoplasm High pitched voice Metaphyseal widening Anterior bowing of long bones Overfolded helix Pursed lips Hypoplasia of the musculature Long eyelashes in irregular rows Flexion contracture of toe Abnormality of femoral epiphysis Smooth tongue Percussion myotonia Skeletal muscle hypertrophy Spinal deformities Wrist flexion contracture Increased CSF lactate Joint contracture of the hand Poor head control Progressive encephalopathy Renal tubular acidosis Glycosuria Exertional dyspnea Polyuria Spinal muscular atrophy Polydipsia Hypercalciuria Poor suck Hyperammonemia Thoracolumbar scoliosis Tachypnea Leukoencephalopathy Respiratory insufficiency due to muscle weakness Severe muscular hypotonia Exercise intolerance Aminoaciduria Decreased liver function Progressive muscle weakness Progressive neurologic deterioration Hemiparesis Mitochondrial myopathy Renal tubular dysfunction Bowing of the long bones Increased hepatocellular lipid droplets Decreased testicular size Talipes Rigidity Pes planus Proptosis Hyperhidrosis Delayed skeletal maturation Hyporeflexia Fever Spastic hemiparesis Alopecia Increased intramyocellular lipid droplets Proximal renal tubular acidosis Cytochrome C oxidase-negative muscle fibers Renal Fanconi syndrome Hepatic encephalopathy Microvesicular hepatic steatosis Respiratory arrest Thoracolumbar kyphosis Periventricular leukomalacia Hyperphosphaturia Diarrhea Poikiloderma Hypogonadism Abnormality of skin pigmentation Anorexia Broad-based gait Psychosis Pancytopenia Abnormality of extrapyramidal motor function Memory impairment Urinary incontinence Neutropenia Hematuria Nephropathy Joint hypermobility Unsteady gait Atherosclerosis Confusion Lower limb muscle weakness Malabsorption Congenital cataract Lethargy Retinopathy Feeding difficulties in infancy Mental deterioration Difficulty walking High forehead Reduced visual acuity Abnormality of retinal pigmentation Slurred speech Weight loss Delirium Cystathioninemia Diffuse hepatic steatosis Decreased methylmalonyl-CoA mutase activity Hypomethioninemia Cystathioninuria Vitamin B12 deficiency Decreased methionine synthase activity Decreased adenosylcobalamin Hyperhomocystinemia Decreased methylcobalamin Urogenital fistula Abnormality of macular pigmentation Ectopia lentis Chronic hemolytic anemia Methylmalonic acidemia Atrophy of the spinal cord Hemolytic-uremic syndrome Right ventricular failure Gastritis Homocystinuria Methylmalonic aciduria Megaloblastic anemia Thromboembolism Disproportionate tall stature Gait ataxia Cerebral cortical atrophy Hyperkeratosis Hypopigmentation of the skin Basal cell carcinoma Premature graying of hair Squamous cell carcinoma Sarcoma Dermal atrophy Neoplasm of the skin Short thumb Telangiectasia Microdontia Growth hormone deficiency Hypodontia Delayed eruption of teeth Absent thumb Short foot Small hand Short palm Anal atresia Nail dystrophy Corneal opacity Small for gestational age Skin rash Sparse hair Erythema Mandibular prognathia Agenesis of permanent teeth Skin vesicle Dementia Duodenal stenosis Depressivity Thrombocytopenia Renal insufficiency Intellectual disability, severe Hydrocephalus Tremor Forearm reduction defects Zonular cataract Bilateral radial aplasia Juvenile cataract Annular pancreas Iris atrophy Increased number of teeth Aplasia/Hypoplasia of the patella Skin erosion Acantholysis Patellar aplasia Rectovaginal fistula Concave nasal ridge Osteosarcoma Absent radius Proportionate short stature Aplasia/Hypoplasia of the thumb Anteriorly placed anus Status epilepticus High palate Spastic tetraplegia Delayed calcaneal ossification Abnormality of the face Bilateral sensorineural hearing impairment Congenital diaphragmatic hernia Overgrowth Vesicoureteral reflux Pulmonic stenosis Arthralgia Hypothyroidism Hypospadias Limitation of knee mobility Cutis laxa Neonatal short-trunk short stature Sciatica Delayed pubic bone ossification Retinoschisis Limited hip movement Cervical myelopathy Flattened epiphysis Limited elbow movement Ovoid vertebral bodies Wormian bones Shock Vitreoretinopathy Supravalvular aortic stenosis Craniosynostosis Gastroesophageal reflux Dyspnea Clinodactyly of the 5th finger Fatigue Macrocephaly Renal diverticulum Bowel diverticulosis Arterial fibromuscular dysplasia Congenital hemolytic anemia Epiphyseal dysplasia Vascular tortuosity Dermal translucency Ascending tubular aorta aneurysm Ileus Bladder diverticulum Atelectasis Premature skin wrinkling Shawl scrotum Delayed cranial suture closure Emphysema Barrel-shaped chest Hypoplasia of the odontoid process Specific learning disability Sparse eyebrow Gait disturbance Nonketotic hyperglycinemia Fetal distress Hyperglycinemia Exaggerated startle response Genu recurvatum Myopathic facies Overlapping toe Oral-pharyngeal dysphagia Trigonocephaly Hyperlordosis Deep philtrum Clonus Long eyelashes Esotropia Abnormality of the foot Arthrogryposis multiplex congenita Dolichocephaly Retrognathia Hypertonia Depressed nasal bridge Polydactyly Respiratory tract infection Disproportionate short stature Abnormality of epiphysis morphology Restrictive ventilatory defect Short thorax Vestibular dysfunction Bowing of the legs Spondyloepiphyseal dysplasia Back pain Genu varum Growth abnormality Rhizomelia Abnormal form of the vertebral bodies Autoimmunity Abnormality of the metaphysis Abnormal lung morphology Osteoarthritis High myopia Limb undergrowth Limitation of joint mobility Retinal detachment Pulmonary hypoplasia Micromelia Narrow chest Dilated cardiomyopathy Myocardial infarction Increased serum lactate Cerebral atrophy Nephrotic syndrome Sloping forehead Narrow forehead Convex nasal ridge Ichthyosis Stage 5 chronic kidney disease Coloboma Deeply set eye Cerebellar hypoplasia Cerebellar atrophy Pachygyria Edema Downslanted palpebral fissures Intrauterine growth retardation Epicanthus Delayed speech and language development Expanded phalanges with widened medullary cavities Expanded metacarpals with widened medullary cavities Hypoplastic distal radial epiphyses Expanded metatarsals with widened medullary cavities Coarctation of aorta Postnatal microcephaly Hypoplasia of the tooth germ Hepatomegaly Tetraplegia Coma Hepatic failure Lactic acidosis Limb muscle weakness Generalized tonic-clonic seizures Irritability Cardiomyopathy Dysarthria Motor delay Leukodystrophy Hypertensive crisis Diffuse mesangial sclerosis Corpus callosum atrophy Cortical gyral simplification Hypoplastic left heart Focal segmental glomerulosclerosis Glomerulosclerosis Hypoalbuminemia Lissencephaly Hypocalcemia Aortic arch calcification Tendon rupture Thin skin Abnormal myocardium morphology Recurrent infections Abnormality of the dentition Abnormality of the zygomatic bone Abnormal carotid artery morphology Keratoglobus Long palm Median cleft lip and palate Femoral hernia Avascular necrosis of the capital femoral epiphysis Myocarditis Pes cavus Esophagitis Aortic dissection Cardiorespiratory arrest Hiatus hernia Aortic root aneurysm Keratoconus Telangiectasia of the skin Rocker bottom foot Hyperextensible skin Cardiac arrest Visual loss Thin upper lip vermilion Dentinogenesis imperfecta limited to primary teeth Osteolytic defects of the phalanges of the hand Unerupted tooth Premature loss of permanent teeth Mitral valve calcification Hip subluxation Aortic valve calcification Shallow acetabular fossae Muscle fiber atrophy Subvalvular aortic stenosis Onycholysis High anterior hairline Carious teeth Periodontitis Heart block Epiphora Psoriasiform dermatitis Scaling skin Osteolysis Aortic valve stenosis Decreased body weight Cardiomegaly Hypoplasia of the maxilla Thyroglossal cyst


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