Hypertension, and Spina bifida

Diseases related with Hypertension and Spina bifida

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

Top matches:

Neurocutaneous melanocytosis (NCM) is a rare congenital neurological disorder characterized by abnormal aggregations of nevomelanocytes within the central nervous system (leptomeningeal melanocytosis) associated with large or giant congenital melanocytic nevi (CMN; see this term). NCM can be asymptomatic or present as variably severe and progressive neurological impairment, sometimes resulting in death.

NEUROCUTANEOUS MELANOCYTOSIS Is also known as neurocutaneous melanosis|neuromelanosis|ncm

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about NEUROCUTANEOUS MELANOCYTOSIS

Joubert syndrome-14 is an autosomal recessive developmental disorder characterized by severe mental retardation, hypoplasia of the cerebellar vermis and molar tooth sign (MTS) on brain imaging, hypotonia, abnormal breathing pattern in infancy, and dysmorphic facial features. Additional findings can include renal cysts, abnormal eye movements, and postaxial polydactyly (summary by Boycott et al., 2007 and Huang et al., 2011).For a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see {213300}.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 14; JBTS14

Congenital cataract - hypertrophic cardiomyopathy - mitochrondrial myopathy (CCM) is a mitochondrial disease (see this term) characterized by cataracts, hypertrophic cardiomyopathy, muscle weakness and lactic acidosis after exercise.

CONGENITAL CATARACT-HYPERTROPHIC CARDIOMYOPATHY-MITOCHONDRIAL MYOPATHY SYNDROME Is also known as mtdps10|sengers syndrome|cardiomyopathy and cataract|mitochondrial dna depletion syndrome 10 (cardiomyopathic type)

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Growth delay
  • Nystagmus


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL CATARACT-HYPERTROPHIC CARDIOMYOPATHY-MITOCHONDRIAL MYOPATHY SYNDROME

Other less relevant matches:

Orofaciodigital syndrome type I (OFD1) is characterized by malformations of the face, oral cavity, and digits and is transmitted as an X-linked dominant condition with lethality in males. Thickened alveolar ridges and abnormal dentition, including absent lateral incisors, are additional characteristics of OFD1. The central nervous system may also be involved in as many as 40% of cases. Although these clinical features overlap those reported in other forms of orofaciodigital syndrome, OFD1 can be easily distinguished from among these by its X-linked dominant inheritance pattern and by polycystic kidney disease, which seems to be specific to type I (summary by Ferrante et al., 2001).Since the CXORF5 gene localizes to the centrosome and basal body of primary cilia, OFD1 is considered to be a ciliopathy (Chetty-John et al., 2010).

OROFACIODIGITAL SYNDROME I; OFD1 Is also known as oral-facial-digital syndrome, type i|papillon-leage and psaume syndrome|ofds i

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about OROFACIODIGITAL SYNDROME I; OFD1

NAIL-PATELLA SYNDROME; NPS Is also known as turner-kieser syndrome|nps1|fong disease|onychoosteodysplasia

Related symptoms:

  • Seizures
  • Short stature
  • Hearing impairment
  • Scoliosis
  • Neoplasm


SOURCES: OMIM MENDELIAN

More info about NAIL-PATELLA SYNDROME; NPS

Low match LATHOSTEROLOSIS

Lathosterolosis is an extremely rare inborn error of sterol biosynthesis characterized by facial dysmorphism, congenital anomalies (including limb and kidney anomalies), failure to thrive, developmental delay and liver disease.

LATHOSTEROLOSIS Is also known as sc5d deficiency|sterol c5-desaturase deficiency

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about LATHOSTEROLOSIS

LEOPARD is an acronym for the manifestations of this syndrome as listed by Gorlin et al. (1969): multiple lentigines, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonic stenosis, abnormal genitalia, retardation of growth, and sensorineural deafness. Genetic Heterogeneity of LEOPARD SyndromeLEOPARD syndrome is a genetically heterogeneous disorder. See also LEOPARD syndrome-2 (OMIM ), caused by mutation in the RAF1 gene (OMIM ), and LEOPARD syndrome-3 (OMIM ), caused by mutation in the BRAF gene (OMIM ).

LEOPARD SYNDROME 1; LPRD1 Is also known as multiple lentigines syndrome|lentiginosis, cardiomyopathic

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about LEOPARD SYNDROME 1; LPRD1

Zimmermann-Laband syndrome (ZLS) is a rare disorder characterized by gingival fibromatosis, coarse facial appearance, and absence or hypoplasia of nails or terminal phalanges of hands and feet.

ZIMMERMANN-LABAND SYNDROME Is also known as laband syndrome|gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome|fibromatosis, gingival, with abnormal fingers, fingernails, nose, and ears, and splenomegaly

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ZIMMERMANN-LABAND SYNDROME

Neurofibromatosis type I is an autosomal dominant disorder characterized by cafe-au-lait spots, Lisch nodules in the eye, and fibromatous tumors of the skin. Individuals with the disorder have increased susceptibility to the development of benign and malignant tumors. NF1 is sometimes referred to as 'peripheral neurofibromatosis.' The worldwide incidence of NF1 is 1 in 2,500 to 1 in 3,000 individuals (reviews by Shen et al., 1996 and Williams et al., 2009).Type II neurofibromatosis (NF2 ) is a genetically distinct disorder caused by mutation in the gene encoding merlin (NF2 ) on chromosome 22q12. NF2, sometimes known as 'central neurofibromatosis,' is characterized by bilateral acoustic neuroma and meningioma, but few skin lesions or neurofibromas (Rouleau et al., 1993).Some patients with homozygous or compound heterozygous mutations in mismatch repair genes (see, e.g., MLH1; {120436} and MSH2; {609309}) have a phenotype characterized by early onset malignancies and mild features of NF1, especially cafe-au-lait spots; this is known as the mismatch repair cancer syndrome (OMIM ), sometimes referred to as brain tumor-polyposis syndrome-1 or Turcot syndrome. These patients typically do not have germline mutations in the NF1 gene, although a study by Wang et al. (2003) suggested that biallelic mutations in mismatch repair genes may cause somatic mutations in the NF1 gene, perhaps resulting in isolated features resembling NF1.See also Legius syndrome (OMIM ), a genetically distinct disorder with a similar phenotype to NF1.

NEUROFIBROMATOSIS TYPE 1 DUE TO NF1 MUTATION OR INTRAGENIC DELETION Is also known as von recklinghausen disease due to nf1 mutation or intragenic deletion|neurofibromatosis, peripheral type|von recklinghausen disease

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Scoliosis
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEUROFIBROMATOSIS TYPE 1 DUE TO NF1 MUTATION OR INTRAGENIC DELETION

Alagille syndrome is an autosomal dominant disorder that traditionally has been defined by a paucity of intrahepatic bile ducts, in association with 5 main clinical abnormalities: cholestasis, cardiac disease, skeletal abnormalities, ocular abnormalities, and a characteristic facial phenotype (Li et al., 1997). Cholestasis is a direct consequence of the paucity of bile ducts. About 39% of patients also have renal involvement, mainly renal dysplasia (Kamath et al., 2012).Turnpenny and Ellard (2012) reviewed the clinical features, diagnosis, pathogenesis, and genetics of Alagille syndrome. Genetic Heterogeneity of Alagille SyndromeAnother form of Alagille syndrome (ALGS2 ) is caused by mutation in the NOTCH2 gene (OMIM ).

ALAGILLE SYNDROME 1; ALGS1 Is also known as algs|alagille-watson syndrome|alagille syndrome|hepatic ductular hypoplasia, syndromatic|arteriohepatic dysplasia|aws|cholestasis with peripheral pulmonary stenosis|ahd

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about ALAGILLE SYNDROME 1; ALGS1

Top 5 symptoms//phenotypes associated to Hypertension and Spina bifida

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Seizures Common - Between 50% and 80% cases
Hearing impairment Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Neoplasm Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Hypertension and Spina bifida. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Growth delay Hypertelorism Strabismus Ptosis Downslanted palpebral fissures Short stature Dilatation Cataract Generalized hypotonia Epicanthus Hydrocephalus Congestive heart failure Polydactyly Meningocele Abnormality of the skeletal system Cardiomyopathy Scoliosis Abnormal facial shape Respiratory insufficiency Osteoporosis Postaxial polydactyly Muscular hypotonia Low-set ears Hepatosplenomegaly Pain Specific learning disability Myopia Conductive hearing impairment Failure to thrive Sensorineural hearing impairment Hepatomegaly Posteriorly rotated ears Microcornea Micrognathia Hypertrophic cardiomyopathy Intellectual disability, mild Renal insufficiency Abnormality of the kidney High palate Depressivity Protruding ear Pulmonic stenosis Glaucoma Wide nasal bridge Overgrowth Cleft palate Spina bifida occulta Abnormal heart morphology

Rare Symptoms - Less than 30% cases

Stage 5 chronic kidney disease Talipes equinovarus Pectus excavatum Clinodactyly of the 5th finger Microcephaly Dysarthria Clinodactyly Brachydactyly Frontal bossing Syndactyly Talipes Alopecia Proteinuria Cleft lip Myelomeningocele Facial asymmetry Oral cleft Renal artery stenosis Paresthesia Hemivertebrae Cafe-au-lait spot Multiple cafe-au-lait spots Macrocephaly Macrotia Coarse facial features Broad forehead Short distal phalanx of finger Biliary atresia Delayed puberty Visual loss Pruritus Malabsorption Abnormality of skin pigmentation Gastrointestinal hemorrhage Tetralogy of Fallot Coarctation of aorta Triangular face Kyphoscoliosis Nephrotic syndrome Abnormality of the liver Renal dysplasia Pterygium Anonychia Keratoconus Renal cell carcinoma Intrauterine growth retardation Hepatic failure Mandibular prognathia Bulbous nose Cholestasis Gingival overgrowth Intrahepatic cholestasis Butterfly vertebrae Cryptorchidism Delayed speech and language development Abnormality of cardiovascular system morphology Elevated hepatic transaminase Portal hypertension Thrombocytopenia Osteopenia Thickened skin Molar tooth sign on MRI Mental deterioration Headache Corneal dystrophy Hemiparesis Behavioral abnormality Intellectual disability, severe Generalized hirsutism Congenital cataract Stroke Arachnoid cyst Short philtrum Meningioma Venous thrombosis Astrocytoma Arnold-Chiari malformation Acidosis Nystagmus Fatigue Ataxia Dandy-Walker malformation Dyspnea Renal hypoplasia/aplasia Deeply set eye EEG abnormality Peripheral axonal neuropathy Easy fatigability Genu valgum Abnormality of the nervous system Leukemia Paralysis Autistic behavior Hypoglycemia Autism Weight loss Hyperactivity Nevus Blindness Peripheral neuropathy Visual impairment Attention deficit hyperactivity disorder Lymphoma Recurrent fractures Sarcoma Severe vision loss Osteomalacia Freckling Tibial bowing Neurofibromas Pulmonary fibrosis Hypophosphatemia Sensory axonal neuropathy Clitoral hypertrophy Precocious puberty Back pain Incoordination Cognitive impairment Breast carcinoma Reduced bone mineral density Atherosclerosis Sensorimotor neuropathy Bone pain Aganglionic megacolon Hypsarrhythmia Spasticity Mitral valve prolapse Abnormality of the cardiovascular system Ventriculomegaly Anemia Gingival fibromatosis Mesiodens Polyhydramnios Delayed eruption of teeth Thick vermilion border Hirsutism Thick eyebrow Joint hypermobility Synophrys Abnormality of retinal pigmentation Wide mouth Umbilical hernia Cranial nerve paralysis Patent ductus arteriosus Bilateral sensorineural hearing impairment Hernia Splenomegaly Aplasia of the ovary Coronary artery aneurysm Numerous nevi Hypoplasia of the ovary Third degree atrioventricular block Delayed menarche Parietal bossing Multiple lentigines Limited elbow movement Macroglossia Intellectual disability, profound Short distal phalanx of toe Broad ribs Prominent eyelashes Aortic arch aneurysm Everted upper lip vermilion Generalized hypertrichosis Cavernous hemangioma Hyperextensibility of the finger joints Increased reactive oxygen species production Long penis Colpocephaly Thin bony cortex Dystrophic fingernails Protruding tongue Small nail Aortic root aneurysm Pericardial effusion Large for gestational age Metaphyseal widening Growth abnormality Hemangioma Accelerated skeletal maturation Intellectual disability, progressive Nephrolithiasis Hypertrichosis Thick lower lip vermilion Overweight Pheochromocytoma Gangrene Pointed chin Prolonged neonatal jaundice Long nose Chorioretinal atrophy Vertebral segmentation defect Malnutrition Hypoplasia of the ulna Heart murmur Glomerulosclerosis Hypercholesterolemia Finger clinodactyly Multicystic kidney dysplasia Abnormal vertebral morphology Renal tubular acidosis Lymphedema Exotropia Abnormal form of the vertebral bodies Hypertriglyceridemia Renal hypoplasia Abnormality of the ribs Pigmentary retinopathy Prominent nose Round face Vesicoureteral reflux Hypodontia Hypopigmentation of the skin Telangiectasia of the skin Abnormality of the ureter Cirrhosis Arterial stenosis Reduced number of intrahepatic bile ducts Rectourethral fistula Unicoronal synostosis Intrahepatic biliary atresia Chronic hepatic failure Multiple small medullary renal cysts Vitamin D deficiency Axenfeld anomaly Papillary thyroid carcinoma Band keratopathy Abnormal anterior chamber morphology Hypopigmentation of the fundus Posterior embryotoxon Fat malabsorption Peripheral pulmonary artery stenosis Abnormal pupil morphology Thyroid carcinoma Cholestatic liver disease Peripheral arterial stenosis Coronal craniosynostosis Pulmonary artery stenosis Abnormality of the vasculature Dilatation of the cerebral artery Hepatocellular carcinoma Exocrine pancreatic insufficiency Flat face Anal atresia Neoplasm of the endocrine system Schwannoma Pseudoarthrosis Soft tissue sarcoma Epigastric pain Dural ectasia Leiomyosarcoma Fibular bowing Gastrointestinal stroma tumor Neoplasm of the central nervous system Lisch nodules Chronic myelogenous leukemia Renal phosphate wasting Glioma Renovascular hypertension Nasolacrimal duct obstruction Rhabdomyosarcoma Carcinoid tumor Paraganglioma Night sweats Anomalous pulmonary venous return Complete atrioventricular canal defect Abnormal aortic valve morphology Parathyroid adenoma Aqueductal stenosis Brain neoplasm Myocardial fibrosis Single ventricle Axillary freckling Retinopathy Depressed nasal bridge Scarring Craniosynostosis Carcinoma Jaundice Brachycephaly Upslanted palpebral fissure Prominent forehead Delayed skeletal maturation Areflexia Atrial septal defect Ventricular septal defect Brow ptosis Embryonal rhabdomyosarcoma Tibial pseudoarthrosis Cerebral artery stenosis Arterial fibromuscular dysplasia Spinal neurofibromas Inguinal freckling Plexiform neurofibroma Acute promyelocytic leukemia Subcutaneous neurofibromas Optic nerve glioma Neurofibrosarcoma Neuroma Vestibular Schwannoma Subvalvular aortic stenosis Cubitus valgus Abnormal mitral valve morphology Alveolar ridge overgrowth Pes planus Occipital encephalocele Multiple renal cysts Edema Breathing dysregulation Morning glory anomaly Muscle weakness Motor delay Trident hand Abnormality of toe Multiple glomerular cysts Gray matter heterotopias Arthrogryposis multiplex congenita Hypothalamic hamartoma Tongue nodules Lobulated tongue Narrow naris Deviation of finger Pancreatic cysts Hepatic cysts Porencephalic cyst Dry hair Ovarian cyst Abnormality of the pancreas Nail dystrophy Tented upper lip vermilion Abnormal cortical gyration Abnormality of the urinary system Raynaud phenomenon Blue irides Abnormality of the elbow Patellar dislocation Coloboma Colon cancer Limited elbow extension Prominent nasal bridge Nephritis Glomerulonephritis Abnormality of eye movement Aortic regurgitation Confusion Highly arched eyebrow Renal cyst Recurrent urinary tract infections Lumbar hyperlordosis Cerebellar vermis hypoplasia Nail dysplasia Open mouth Nephropathy Hematuria Cleft upper lip Encephalocele Bifid tongue Median cleft lip Patellar aplasia Fatty replacement of skeletal muscle Pulmonary arterial hypertension Cardiac arrest Exercise intolerance Tachypnea Ragged-red muscle fibers Eosinophilia Depletion of mitochondrial DNA in muscle tissue Abnormal muscle fiber protein expression Exercise-induced lactic acidemia Infantile axial hypotonia Inferior vermis hypoplasia Decreased activity of mitochondrial respiratory chain Aciduria Abnormal myelination 3-Methylglutaconic aciduria Skeletal myopathy Organic aciduria Right ventricular hypertrophy Cardiorespiratory arrest Mitochondrial myopathy Hypoplasia of the brainstem Abnormality of mitochondrial metabolism Premature ovarian insufficiency Abnormal electroretinogram Esotropia Tremor Increased number of teeth Bifid uvula Atrioventricular canal defect Nephronophthisis Agenesis of permanent teeth Milia Radial deviation of finger Polycystic kidney dysplasia Cutaneous syndactyly Microretrognathia Hepatic fibrosis Hypoplasia of dental enamel Underdeveloped nasal alae Abnormal cerebellum morphology Increased serum lactate Respiratory distress Myopathy Carious teeth Abnormality of the cerebral white matter Sparse hair Cerebellar hypoplasia Telecanthus Agenesis of corpus callosum Feeding difficulties in infancy Lactic acidosis Generalized muscle weakness Abnormality of the dentition Tubulointerstitial nephritis Ridged nail Hyposmia Bilobate gallbladder Micropenis Hyperkeratosis Arrhythmia Hypospadias Generalized hyperpigmentation Kyphosis Syringomyelia Short neck Spinal cord compression Abnormality of the thoracic spine Lumbosacral meningocele Foam cells with lamellar inclusion bodies Aplasia/Hypoplasia of the cerebellum Severe generalized osteoporosis Schistocytosis Abnormality of cholesterol metabolism Abnormal platelet morphology Cerebellar cortical atrophy Anisopoikilocytosis Neural tube defect Increased mean platelet volume Ambiguous genitalia, male Generalized osteoporosis Acanthocytosis Abnormality of neuronal migration Neonatal hypotonia Papilloma Melanoma Angina pectoris Missing ribs Heart block Severe hearing impairment Bundle branch block Bilateral cryptorchidism Unilateral renal agenesis Recurrent upper respiratory tract infections Mutism Scapular winging Aortic valve stenosis Abnormality of the genital system Melanocytic nevus Mitral regurgitation Depressed nasal ridge Myocardial infarction Increased intracranial pressure Webbed neck Syncope Chest pain Encephalitis Intracranial hemorrhage Chorioretinal coloboma Pectus carinatum Thick upper lip vermilion Postaxial foot polydactyly Concave nail Iliac horns Irritability Biceps aplasia Lester's sign Absence of pectoralis minor muscle Elongated radius Triceps aplasia Disproportionate prominence of the femoral medial condyle Quadriceps aplasia Stellate iris Thickening of the lateral border of the scapula Hypoplastic radial head Glenoid fossa hypoplasia Anteverted nares Hypoplasia of first ribs Microphakia Deep-set nails Antecubital pterygium Absent distal interphalangeal creases Albuminuria Congenital nephrotic syndrome Cervical ribs Microalbuminuria Aplasia/Hypoplasia of the patella Patellar hypoplasia Abnormality of the eye Short nose Prominent metopic ridge Narrow forehead Biparietal narrowing Pathologic fracture Bilateral talipes equinovarus Choroid plexus papilloma Elevated alkaline phosphatase Opacification of the corneal stroma Hyperbilirubinemia Horseshoe kidney Numerous congenital melanocytic nevi Hypoplasia of penis Sloping forehead Postaxial hand polydactyly Long philtrum Cerebral calcification Full cheeks Downturned corners of mouth Malar flattening Microphthalmia Thin vermilion border Toe syndactyly Absent speech Pneumonia High forehead Myoclonus Cerebral atrophy Butterfly vertebral arch


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Rod-cone dystrophy and Eczema, related diseases and genetic alterations Melanoma and Ichthyosis, related diseases and genetic alterations Autoimmunity and Pheochromocytoma, related diseases and genetic alterations Lymphoma and Myelodysplasia, related diseases and genetic alterations Hydrocephalus and Ventriculomegaly, related diseases and genetic alterations Obesity and Bulbous nose, related diseases and genetic alterations