Global developmental delay, and Glomerulonephritis

Diseases related with Global developmental delay and Glomerulonephritis

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

Top matches:

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 2, X-LINKED; GAMOS2

Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome is an autosomal dominant disorder characterized by these 4 features, which begin in early childhood and are progressive (summary by Moalem et al., 2015).

HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME; HLTRS Is also known as glomerulonephritis with sparse hair and telangiectases|telangiectatic membranoproliferative glomerulonephritis

Related symptoms:

  • Global developmental delay
  • Abnormal facial shape
  • Hypertension
  • Epicanthus
  • Wide nasal bridge


SOURCES: MESH OMIM MENDELIAN

More info about HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME; HLTRS

Medium match PGM3-CDG

PGM3-CDG is a rare congenital disorder of glycosylation caused by mutations in the PGM3 gene and characterized by neonatal to childhood onset of recurrent bacterial and viral infections, inflammatory skin diseases, atopic dermatitis and atopic diatheses, and marked serum IgE elevation. Early neurologic impairment is evident including developmental delay, intellectual disability, ataxia, dysarthria, sensorineural hearing loss, myoclonus and seizures.

PGM3-CDG Is also known as cid due to pgm3 deficiency|immunodeficiency with hyper ige and cognitive impairment|pgm3-related congenital disorder of glycosylation|combined immunodeficiency due to pgm3 deficiency|immunodeficiency-vasculitis-myoclonus syndrome|ivms

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about PGM3-CDG

Other less relevant matches:

Primary CoQ10 deficiency is a rare, clinically heterogeneous autosomal recessive disorder caused by mutation in any of the genes encoding proteins directly involved in the synthesis of coenzyme Q (review by Quinzii and Hirano, 2011). Coenzyme Q10 (CoQ10), or ubiquinone, is a mobile lipophilic electron carrier critical for electron transfer by the mitochondrial inner membrane respiratory chain (Duncan et al., 2009).The disorder has been associated with 5 major phenotypes, but the molecular basis has not been determined in most patients with the disorder and there are no clear genotype/phenotype correlations. The phenotypes include an encephalomyopathic form with seizures and ataxia (Ogasahara et al., 1989); a multisystem infantile form with encephalopathy, cardiomyopathy and renal failure (Rotig et al., 2000); a predominantly cerebellar form with ataxia and cerebellar atrophy (Lamperti et al., 2003); Leigh syndrome with growth retardation (van Maldergem et al., 2002); and an isolated myopathic form (Lalani et al., 2005). The correct diagnosis is important because some patients may show a favorable response to CoQ10 treatment. Genetic Heterogeneity of Primary Coenzyme Q10 DeficiencySee also COQ10D2 (OMIM ), caused by mutation in the PDSS1 gene (OMIM ) on chromosome 10p12; COQ10D3 (OMIM ), caused by mutation in the PDSS2 gene (OMIM ) on chromosome 6q21; COQ10D4 (OMIM ), caused by mutation in the COQ8 gene (ADCK3 ) on chromosome 1q42; COQ10D5 (OMIM ), caused by mutation in the COQ9 gene (OMIM ) on chromosome 16q21; COQ10D6 (OMIM ), caused by mutation in the COQ6 gene (OMIM ) on chromosome 14q24; COQ10D7 (OMIM ), caused by mutation in the COQ4 gene (OMIM ) on chromosome 9q34; and COQ10D8 (OMIM ), caused by mutation in the COQ7 gene (OMIM ) on chromosome 16p13.Secondary CoQ10 deficiency has been reported in association with glutaric aciduria type IIC (MADD ), caused by mutation in the ETFDH gene (OMIM ) on chromosome 4q, and with ataxia-oculomotor apraxia syndrome-1 (AOA1 ), caused by mutation in the APTX gene (OMIM ) on chromosome 9p13.

COENZYME Q10 DEFICIENCY, PRIMARY, 1; COQ10D1 Is also known as ubiquinone deficiency 1|coq10 deficiency, primary, 1|coq deficiency 1|coenzyme q deficiency 1

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about COENZYME Q10 DEFICIENCY, PRIMARY, 1; COQ10D1

Hyperprolinaemia type I is an inborn error of proline metabolism characterised by elevated levels of proline in the plasma and urine. The prevalence is unknown. The disorder is generally considered to be benign but associations with renal abnormalities, epileptic seizures, and other neurological manifestations, as well as certain forms of schizophrenia have been reported. It is transmitted as an autosomal recessive trait and is caused by mutations in the proline dehydrogenase or proline oxidase gene (PRODH or POX, 22q11.2).

HYPERPROLINEMIA TYPE 1 Is also known as hpi|proline oxidase deficiency

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about HYPERPROLINEMIA TYPE 1

NEPHRONOPHTHISIS 2; NPHP2 Is also known as nph2

Related symptoms:

  • Global developmental delay
  • Anemia
  • Hypertension
  • Hepatomegaly
  • Respiratory insufficiency


SOURCES: OMIM MESH MENDELIAN

More info about NEPHRONOPHTHISIS 2; NPHP2

Senior-Loken syndrome-9 is an autosomal recessive disorder characterized by early-onset nephronophthisis and pigmentary retinopathy. Additional more variable features can include liver defects, skeletal anomalies, and obesity (summary by Bizet et al., 2015).For a phenotypic description and a discussion of genetic heterogeneity of Senior-Loken syndrome, see {266900}.

Related symptoms:

  • Global developmental delay
  • Nystagmus
  • Strabismus
  • Abnormality of the skeletal system
  • Obesity


SOURCES: OMIM MENDELIAN

More info about SENIOR-LOKEN SYNDROME 9; SLSN9

Isobutyryl-CoA dehydrogenase deficiency is an inborn error of valine metabolism. The prevalence is unknown. Only one symptomatic patient (with anaemia, failure to thrive, dilated cardiomyopathy and plasma carnitine deficiency) has been described so far, but several series of patients have been identified through newborn screening programs relying on detection of increased C(4)-carnitine levels by tandem mass spectrometry. The disorder is caused by mutations in the ACAD8 gene (11q25).

ISOBUTYRYL-COA DEHYDROGENASE DEFICIENCY Is also known as ibd deficiency|acad8 deficiency|acyl-coa dehydrogenase family, member 8, deficiency of|isobutyric aciduria

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive
  • Muscular hypotonia


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about ISOBUTYRYL-COA DEHYDROGENASE DEFICIENCY

Oculocerebrorenal syndrome of Lowe (OCRL) is a multisystem disorder characterized by congenital cataracts, glaucoma, intellectual disabilities, postnatal growth retardation and renal tubular dysfunction with chronic renal failure.

OCULOCEREBRORENAL SYNDROME OF LOWE Is also known as oculocerebrorenal dystrophy|phosphatidylinositol 4,5-biphosphate 5-phosphatase deficiency|oculo-cerebro-renal dystrophy|oculo-cerebro-renal syndrome|lowe disease|ocrl1|ocrl|ocr|lowe syndrome|phosphatidylinositol 4,5-bisphosphate 5-phosphatase deficiency|l

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about OCULOCEREBRORENAL SYNDROME OF LOWE

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

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

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

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Scoliosis Failure to thrive Cognitive impairment Short stature Abnormal facial shape Renal insufficiency Stage 5 chronic kidney disease Nephritis Nystagmus Acidosis Nephropathy Metabolic acidosis Hearing impairment Delayed speech and language development Tubulointerstitial nephritis Growth delay Micrognathia Feeding difficulties

Rare Symptoms - Less than 30% cases

Abnormality of the kidney Asthma Gastroesophageal reflux Myoclonus Recurrent respiratory infections Dysarthria Hyporeflexia Abnormality of the skeletal system Motor delay Abnormality of the dentition Sensorineural hearing impairment Hematuria Ataxia Cataract Hypogonadism Cardiomyopathy Glomerulopathy Nephronophthisis Stereotypy Aggressive behavior EEG abnormality Behavioral abnormality Membranoproliferative glomerulonephritis Status epilepticus Rod-cone dystrophy Aciduria Joint hyperflexibility Strabismus Dehydration Respiratory failure Cholestasis Muscular hypotonia Respiratory insufficiency Focal segmental glomerulosclerosis Hypertelorism Sparse hair Cerebral atrophy Nephrotic syndrome Cerebellar atrophy Mandibular prognathia Eczema Visual impairment Sparse eyelashes Glomerulosclerosis Dilatation Epicanthus High palate Hypertension Spasticity Dental crowding Joint hypermobility Delayed eruption of teeth Skin ulcer Everted lower lip vermilion Microcephaly Joint contracture of the hand Long face Abnormality of epiphysis morphology Genu valgum Delayed puberty Carious teeth Malabsorption Clonus Abnormal bleeding Recurrent fractures Hypoplasia of dental enamel Full cheeks Increased serum lactate Amblyopia Abnormality of the ribs Fine hair Platyspondyly Nephrolithiasis Sparse scalp hair Osteoarthritis Open mouth Abnormality of the metaphysis Subcutaneous nodule Congenital cataract Freckling Hip dislocation Frontal bossing Depressivity Thrombocytopenia Microphthalmia Long philtrum Kyphosis Blindness Ventriculomegaly Cryptorchidism Inguinal hernia Neonatal hyperbilirubinemia Pyelonephritis Peripheral pulmonary artery stenosis Decreased plasma carnitine Mild global developmental delay Cardiomegaly Pulmonic stenosis Areflexia Constipation Corneal opacity Intellectual disability, moderate Attention deficit hyperactivity disorder Camptodactyly of finger Nephrocalcinosis Protruding ear Irritability Feeding difficulties in infancy Low-set, posteriorly rotated ears Anxiety Upslanted palpebral fissure Arthritis Neonatal hypotonia Deeply set eye Thin upper lip vermilion Umbilical hernia Reduced visual acuity Glaucoma Joint stiffness Azoospermia Narrow palate Chorioretinal dysplasia Odontogenic neoplasm Finger swelling Elevated amniotic fluid alpha-fetoprotein Periventricular cysts Benign neoplasm of the central nervous system Elevated serum acid phosphatase Abnormality of calcium-phosphate metabolism Oligosacchariduria Bicarbonaturia Vitamin D deficiency Proximal renal tubular acidosis Urogenital fistula Renal Fanconi syndrome Keloids Cheilitis Abnormality of the renal tubule Elevated maternal serum alpha-fetoprotein Abnormality of dentin Abnormal pupil morphology Craniosynostosis Scaphocephaly Hypoplastic toenails Sparse eyebrow Trigonocephaly Cerebellar vermis hypoplasia Dandy-Walker malformation Ectodermal dysplasia Prominent forehead Lentiglobus Ventricular septal defect Downslanted palpebral fissures Depressed nasal bridge Low-set ears Dense posterior cortical cataract Hypoammonemia Wrist swelling Lacrimation abnormality Buphthalmos Aminoaciduria Abnormality of the voice Diabetes insipidus Flat occiput Obsessive-compulsive behavior Hyponatremia Chronic otitis media Self-injurious behavior Rickets Hypokalemia Hypophosphatemia Hypercalciuria Deep philtrum Reduced number of teeth Hypercholesterolemia Neoplasm of the skin Vomiting Abnormality of dental enamel Open bite Dysphasia Hyperphosphaturia Atypical scarring of skin Atelectasis Generalized hypopigmentation Renal tubular dysfunction Taurodontia Periodontitis Hyperaldosteronism Gingivitis Patellar dislocation Congenital glaucoma Multiple renal cysts Joint swelling Renal tubular acidosis Osteomalacia Abnormal joint morphology Hyperparathyroidism Pathologic fracture Dilated cardiomyopathy Pallor Atrial septal defect Autoimmune neutropenia Optic atrophy Skeletal muscle atrophy Hyperreflexia Prominent nasal bridge Muscle weakness Cortical myoclonus Vasculitis in the skin Fatigue Allergic rhinitis Severe combined immunodeficiency Atopic dermatitis Combined immunodeficiency Recurrent skin infections Leukopenia Narrow palpebral fissure Gait disturbance Respiratory distress Lymphopenia Abnormal pyramidal sign Muscle cramps Postural instability Hepatic failure Lactic acidosis Wide nasal bridge Stroke Muscular hypotonia of the trunk Intellectual disability, mild Hypertrophic cardiomyopathy Edema Alopecia Hyperkeratosis Elevated serum creatine phosphokinase Visual loss Encephalopathy Vasculitis Bronchiectasis Minimal change glomerulonephritis Choroid plexus calcification Pyloric stenosis Absent eyebrow Reduced subcutaneous adipose tissue Telangiectasia of extensor surfaces Facial telangiectasia in butterfly midface distribution Epidermal hyperkeratosis Pulmonary lymphangiectasia Sparse and thin eyebrow Oval face Long nose Arteriosclerosis Nonimmune hydrops fetalis Hydrocele testis Narrow nose Absent eyelashes Chronic kidney disease Hydrops fetalis Inflammatory abnormality of the skin Respiratory tract infection Lymphoma Sensory impairment Hypotrichosis Neutropenia Hemolytic anemia Erythema Abnormality of the nervous system Brachydactyly Conductive hearing impairment Thick vermilion border Broad nasal tip Telangiectasia Recurrent infections Immunodeficiency Lymphedema Progressive cerebellar ataxia Memory impairment Hypoplasia of the femoral head Situs inversus totalis Enlarged kidney Intrauterine growth retardation Hyperkalemia Polyuria Polydipsia Polycystic kidney dysplasia Oligohydramnios Cholestatic liver disease Pulmonary hypoplasia Abnormal cardiac septum morphology Abnormality of the liver Cerebellar hypoplasia Hepatomegaly Hyperprolinemia Prolinuria Elevated serum creatinine Portal fibrosis Hyperglycinuria Polydactyly Macular degeneration Hepatic fibrosis Pigmentary retinopathy Retinal dystrophy Retinopathy Palpebral edema Obesity Pulmonary insufficiency Hyperkalemic metabolic acidosis Chronic tubulointerstitial nephritis Absence of renal corticomedullary differentiation Renal cortical microcysts Tubulointerstitial abnormality Oliguria Hyperechogenic kidneys Hydroxyprolinuria Motor deterioration Specific learning disability Ragged-red muscle fibers Tubular atrophy Myoglobinuria Generalized amyotrophy Ophthalmoparesis Failure to thrive in infancy Hyperextensible skin Oculomotor apraxia Steroid-resistant nephrotic syndrome Exercise intolerance Hypergonadotropic hypogonadism Progressive muscle weakness Progressive neurologic deterioration Pancytopenia Apraxia Bilateral sensorineural hearing impairment Scanning speech Glutaric aciduria Bruxism Ichthyosis Nephroblastoma Dysmetria Schizophrenia Severe muscular hypotonia Arachnodactyly Hemiparesis Sleep disturbance Polymicrogyria Recurrent myoglobinuria Esotropia Hyperactivity Narrow forehead Neoplasm Crescentic glomerulonephritis Rapid neurologic deterioration Exercise-induced myoglobinuria Posterior fossa cyst


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