Global developmental delay, and Hematuria

Diseases related with Global developmental delay and Hematuria

In the following list you will find some of the most common rare diseases related to Global developmental delay and Hematuria that can help you solving undiagnosed cases.

Top matches:

Seizures-scoliosis-macrocephaly syndrome is a rare, genetic neurometabolic disorder characterized by seizures, macrocephaly, delayed motor milestones, moderate intellectual disability, scoliosis with no exostoses, muscular hypotonia present since birth, as well as renal dysfunction. Coarse facial features (including hypertelorism and long hypoplastic philtrum) and bilateral cryptorchidism (in males) are also commonly reported. Additional manifestations include abnormal gastrointestinal motility (resulting in constipation, diarrhea, gastroesophageal reflux and dysphagia), gait disturbances, strabismus and ventricular septal defects.

SEIZURES-SCOLIOSIS-MACROCEPHALY SYNDROME Is also known as ssm syndrome

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Hypertelorism


SOURCES: OMIM ORPHANET MENDELIAN

More info about SEIZURES-SCOLIOSIS-MACROCEPHALY SYNDROME

CRANIOFACIAL DYSPLASIA-SHORT STATURE-ECTODERMAL ANOMALIES-INTELLECTUAL DISABILITY SYNDROME Is also known as developmental delay-short stature-dysmorphic features-sparse hair syndrome|loucks-innes syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Micrognathia


SOURCES: OMIM ORPHANET MENDELIAN

More info about CRANIOFACIAL DYSPLASIA-SHORT STATURE-ECTODERMAL ANOMALIES-INTELLECTUAL DISABILITY SYNDROME

Hereditary orotic aciduria is an extremely rare (less than 20 cases identified worldwide) autosomal recessive disorder characterized by retarded growth, anemia and excessive urinary excretion of orotic acid. It is due to a severe deficiency in the activity of the pyrimidine pathway enzyme uridine 5'-monophosphate (UMP) synthase (bifunctional enzyme containing two activities: orotate phosphoribosyltransferase and orotidine 5'-monophosphate decarboxylase), coded by a single gene (UMPS) localized to chromosome 3q13.

HEREDITARY OROTIC ACIDURIA Is also known as oroticaciduria|oprt and odc deficiency|uridine monophosphate synthase deficiency|orotate phosphoribosyltransferase and orotidylic decarboxylase deficiency|orotidylic decarboxylase deficiency|orotidylic pyrophosphorylase and orotidylic decarboxylase defici

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hypertelorism
  • Failure to thrive
  • Anemia


SOURCES: ORPHANET OMIM MENDELIAN

More info about HEREDITARY OROTIC ACIDURIA

Other less relevant matches:

Low molecular weight proteinuria with hypercalciuria and nephrocalcinosis is a form of X-linked hypercalciuric nephrocalcinosis, a group of disorders characterized by proximal renal tubular reabsorptive failure, hypercalciuria, nephrocalcinosis, and renal insufficiency. These disorders have also been referred to as the 'Dent disease complex' (Scheinman, 1998; Gambaro et al., 2004). For a general discussion of Dent disease, see {300009}.

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Muscular hypotonia
  • Pain


SOURCES: OMIM ORPHANET MENDELIAN

More info about PROTEINURIA, LOW MOLECULAR WEIGHT, WITH HYPERCALCIURIA AND NEPHROCALCINOSIS

LESCH-NYHAN SYNDROME; LNS Is also known as hprt deficiency, complete|hypoxanthine guanine phosphoribosyltransferase 1 deficiency|hprt deficiency|hprt1 deficiency

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about LESCH-NYHAN SYNDROME; LNS

Porencephaly is a term used for any cavitation or cerebrospinal fluid-filled cyst in the brain. One form, called encephaloclastic, or type 1, porencephaly, is usually unilateral and results from focal destructive lesions such as fetal vascular occlusion or birth trauma. Another form, called schizencephalic, or type 2, porencephaly, is usually symmetric and represents a primary defect or arrest in the development of the cerebral ventricles. Encephaloclastic porencephaly is more common (Airaksinen, 1984; Sensi et al., 1990). Genetic Heterogeneity of PorencephalySee also POREN2 (OMIM ), caused by mutation in the COL4A2 gene (OMIM ).

FAMILIAL PORENCEPHALY Is also known as t1p|porencephaly, type 1, autosomal dominant|adt1p|hemiplegia, infantile, with porencephaly porencephaly, type 1

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Strabismus
  • Cataract


SOURCES: OMIM ORPHANET MENDELIAN

More info about FAMILIAL PORENCEPHALY

COL4A1-related familial vascular leukoencephalopathy is a rare, genetic, neurological disease characterized by the presence of fragile small-vessel intracerebral vasculature in various members of a single family, manifesting, clinically, with single or recurrent hemorrhagic and/or ischemic stroke and, frequently, ocular and renal involvement. Neuroimaging reveals diffuse, periventricular leukoencephalopathy associated with dilated perivascular spaces, lacunar infarction and microhemorrhages.

COL4A1-RELATED FAMILIAL VASCULAR LEUKOENCEPHALOPATHY Is also known as col4a1-related brain small vessel disease with hemorrhage|leukoencephalopathy with axenfeld-rieger anomaly|brain small vessel disease with axenfeld-rieger anomaly|brain small vessel disease with hemorrhage|infantile hemiparesis|retinal arteriolar tortuosi

Related symptoms:

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Nystagmus


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about COL4A1-RELATED FAMILIAL VASCULAR LEUKOENCEPHALOPATHY

Related symptoms:

  • Microcephaly
  • Hypertelorism
  • Cleft palate
  • Cryptorchidism
  • Epicanthus


SOURCES: ORPHANET MENDELIAN

More info about BECKWITH-WIEDEMANN SYNDROME DUE TO 11P15 MICRODELETION

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

Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD; see this term) characterized by organomegaly, bone involvement and cytopenia.

GAUCHER DISEASE TYPE 1 Is also known as gaucher disease, juvenile and adult, cerebral|gd iii|gaucher disease, chronic neuronopathic type|non-cerebral juvenile gaucher disease|gaucher disease, subacute neuronopathic type

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Scoliosis
  • Ataxia


SOURCES: ORPHANET OMIM MENDELIAN

More info about GAUCHER DISEASE TYPE 1

Top 5 symptoms//phenotypes associated to Global developmental delay and Hematuria

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Seizures Uncommon - Between 30% and 50% cases
Anemia Uncommon - Between 30% and 50% cases
Proteinuria Uncommon - Between 30% and 50% cases
Cognitive impairment Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Global developmental delay and Hematuria. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Ventricular septal defect Cataract Strabismus Hypertelorism Short stature Generalized hypotonia Failure to thrive Aciduria Megaloblastic anemia Muscular hypotonia Splenomegaly Elevated serum creatine phosphokinase Intellectual disability, mild Dementia Depressivity Microcephaly Spasticity Dysarthria Arthritis Nephropathy Hemiplegia Abnormality of the kidney Renal insufficiency Scoliosis Hemiparesis

Rare Symptoms - Less than 30% cases

Low-set ears Visual impairment Tremor Porencephalic cyst Hyperuricosuria Abnormality of skin pigmentation Perivascular spaces Hearing impairment Nystagmus Mild global developmental delay Myopia Hypoplasia of the iris Diarrhea Abdominal distention Retinopathy Corneal opacity Congenital cataract Bone pain Nephrolithiasis Difficulty walking Motor delay Hypertonia Posterior embryotoxon Recurrent urinary tract infections Cerebellar atrophy Dilatation Stroke Opisthotonus Hemolytic anemia Renal cyst Muscle cramps Cerebral palsy Leukoencephalopathy Anorexia Hepatomegaly Pulmonary arterial hypertension Abnormality of extrapyramidal motor function Cryptorchidism Hip dislocation Intracranial hemorrhage Cerebral hemorrhage Hypertension Pancytopenia Dystonia Abdominal pain Hydrocephalus Pain Spastic paraparesis Epicanthus Downslanted palpebral fissures Abnormality of the dentition Hemolytic-uremic syndrome Patent ductus arteriosus Ataxia Growth delay Neutropenia Broad-based gait Meningitis Aminoaciduria Abnormality of the ureter Recurrent respiratory infections Thrombocytopenia Congestive heart failure Respiratory insufficiency Abdominal wall defect Abnormal eyebrow morphology Diastasis recti Hemihypertrophy Visceromegaly Asymmetry of the thorax Nevus flammeus Anterior creases of earlobe Hemifacial hypertrophy Cardiomegaly Psychosis Prominent nose Pigmentary retinopathy Capillary hemangioma Abnormality of retinal pigmentation Memory impairment Atherosclerosis Enlarged kidney Slurred speech Neonatal hypoglycemia Large for gestational age Abnormality of the face Nephroblastoma Ectopia lentis Premature birth Apathy Disproportionate tall stature Thromboembolism Macroglossia Cor pulmonale Posterior helix pit Urinary incontinence Auricular pit Confusion Abnormality of the outer ear Feeding difficulties in infancy Feeding difficulties Intellectual disability, severe Lethargy Malabsorption Abnormal facial shape Lower limb muscle weakness High forehead Acidosis Facial asymmetry Muscle weakness Smooth philtrum Reduced visual acuity Macrotia Unsteady gait Paresthesia Retinal degeneration Cerebral cortical atrophy Gait ataxia Long face Joint hypermobility Full cheeks Hepatic steatosis Metabolic acidosis Weight loss Congenital megaureter Synophrys Overgrowth Mental deterioration Fatigue Methylmalonic aciduria Abnormality of coagulation Bipolar affective disorder Hepatocellular carcinoma Gingival bleeding Protuberant abdomen Aseptic necrosis Exertional dyspnea Pathologic fracture Interstitial pulmonary abnormality Pericardial effusion Petechiae Increased antibody level in blood Edema of the lower limbs Osteomyelitis Menorrhagia Leukocytosis Clubbing Abnormality of the thorax Portal hypertension Cholelithiasis Increased susceptibility to fractures Reduced bone mineral density Leukopenia Increased serum ferritin Vertebral compression fractures Osteolysis Flank pain Cardiac valve calcification Hematological neoplasm Decreased beta-glucocerebrosidase protein and activity Puberty and gonadal disorders Biliary tract obstruction Vascular calcification Erlenmeyer flask deformity of the femurs Orthopnea Abnormal platelet function Arthralgia of the hip Abnormality of bone marrow cell morphology Supranuclear gaze palsy Spontaneous hematomas Fractures of the long bones Hypersplenism Esodeviation Periorbital edema Generalized osteosclerosis Abnormality of the spleen Avascular necrosis of the capital femoral epiphysis Abnormal myocardium morphology Multiple myeloma Oculomotor apraxia Increased bone mineral density Homocystinuria Decreased adenosylcobalamin Kyphosis Jaundice Thyroglossal cyst Cystathioninemia Diffuse hepatic steatosis Decreased methylmalonyl-CoA mutase activity Hypomethioninemia Cystathioninuria Vitamin B12 deficiency Decreased methionine synthase activity Hyperhomocystinemia Delayed skeletal maturation Decreased methylcobalamin Urogenital fistula Delirium Abnormality of macular pigmentation Chronic hemolytic anemia Methylmalonic acidemia Atrophy of the spinal cord Right ventricular failure Gastritis Myelopathy Arrhythmia Myoclonus Hepatic fibrosis Abnormal bleeding Decreased body weight Osteoarthritis Progressive neurologic deterioration Epistaxis Apraxia Abnormality of the cardiovascular system Cyanosis Syncope Parkinsonism Generalized myoclonic seizures Ascites Osteoporosis Bruising susceptibility Cirrhosis Lymphadenopathy Abnormality of eye movement Delayed puberty Neurological speech impairment Abnormality of the eye EEG abnormality Hepatosplenomegaly Osteopenia Dyspnea Deeply set eye Hypopigmentation of the skin Umbilical hernia Microscopic hematuria Renal phosphate wasting Tubulointerstitial fibrosis Proximal tubulopathy Thin bony cortex Hyperphosphaturia Abnormality of the lower limb Tubular atrophy Delayed epiphyseal ossification Osteomalacia Enlargement of the wrists Glycosuria Hypophosphatemia Bowing of the legs Focal segmental glomerulosclerosis Metaphyseal irregularity Rickets Glomerulosclerosis Hypercalciuria Enlarged epiphyses Low-molecular-weight proteinuria Nephrocalcinosis Behavioral abnormality Clumsiness Choreoathetosis Chorea Irritability Aggressive behavior Rigidity Clinodactyly of the 5th finger Clinodactyly Vomiting Bulging epiphyses Dysphagia Hyperreflexia Delayed speech and language development Flexion contracture Non-acidotic proximal tubulopathy Renal hypophosphatemia Increased serum 1,25-dihydroxyvitamin D3 Enlargement of the ankles Sparse bone trabeculae Chronic kidney disease Recurrent fractures Spastic gait Hypoplastic philtrum Cerebellar vermis hypoplasia Dandy-Walker malformation Ectodermal dysplasia Sparse hair Craniosynostosis Prominent forehead Depressed nasal bridge Micrognathia Overlapping toe Trigonocephaly Status epilepticus Intestinal malrotation Poor speech Coarse facial features Gastroesophageal reflux Constipation Abnormality of the skeletal system Macrocephaly Sparse eyelashes Sparse eyebrow Stage 5 chronic kidney disease Abnormal toenail morphology Reduced orotidine 5-prime phosphate decarboxylase activity Pyrimidine-responsive megaloblastic anemia Orotic acid crystalluria Folate-unresponsive megaloblastic anemia Oroticaciduria Impaired T cell function Poikilocytosis Anisocytosis Hip dysplasia Nephritis Abnormality of the liver Low-set, posteriorly rotated ears Immunodeficiency Atrial septal defect Wide nasal bridge Posterior fossa cyst Tubulointerstitial nephritis Scaphocephaly Hypoplastic toenails Stereotypy Finger clinodactyly Polyhydramnios Dysphonia Corneal neovascularization Supraventricular tachycardia Ectopia pupillae Increased intraocular pressure Infantile spasms Scotoma Congenital glaucoma Blurred vision Paraparesis Anterior synechiae of the anterior chamber Amblyopia Spastic tetraplegia Migraine Tetraplegia Microcornea Retinal detachment Tachycardia Astigmatism Anterior segment developmental abnormality Hypopigmentation of the fundus Abnormality of the cerebral white matter Retinal arterial tortuosity Mandibular prognathia Proptosis Brachycephaly Malar flattening Respiratory distress Cleft palate Thalamic hemorrhage Posterior leukoencephalopathy Right hemiplegia Migraine with aura Peripapillary atrophy Retinal arteriolar tortuosity Optic neuritis Diffuse leukoencephalopathy Polycoria Rieger anomaly Arterial tortuosity Neuritis Retinal hemorrhage Hypermetropia Facial palsy Self-injurious behavior Excessive purine production Mitral valve prolapse Polymicrogyria Abnormal pyramidal sign Cerebellar hypoplasia Babinski sign Ventriculomegaly Podagra Bladder stones Facial grimacing Exotropia Testicular atrophy Focal dystonia Dyslexia Gout Self-mutilation Hyperuricemia Athetosis Proximal placement of thumb Oral-pharyngeal dysphagia Tetraparesis Drooling Abnormality of the nervous system Hemianopia Glaucoma Headache Microphthalmia Cardiomyopathy Antenatal intracerebral hemorrhage Spastic hemiparesis Schizencephaly Pontocerebellar atrophy Primitive reflex Ischemic stroke Stroke-like episode Nuclear cataract Facial paralysis Transient ischemic attack Restlessness Limb dystonia Visual field defect Cortical dysplasia Dysphasia Horizontal supranuclear gaze palsy


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 Upslanted palpebral fissure, related diseases and genetic alterations Autoimmunity and Hypopigmentation of the skin, related diseases and genetic alterations Macrocephaly and Low-set, posteriorly rotated ears, related diseases and genetic alterations Pain and Corneal dystrophy, related diseases and genetic alterations Growth delay and Macrocephaly, related diseases and genetic alterations Generalized hypotonia and Tremor, related diseases and genetic alterations