Rod-cone dystrophy, and Nephritis

Diseases related with Rod-cone dystrophy and Nephritis

In the following list you will find some of the most common rare diseases related to Rod-cone dystrophy and Nephritis that can help you solving undiagnosed cases.


Top matches:

Medium match NEPHRONOPHTHISIS 20; NPHP20


Nephronophthisis-20 is an autosomal recessive tubulointerstitial nephritis characterized by progressive renal fibrosis resulting in end-stage renal failure. The age at onset is relatively late compared to other forms of NPHP, and patients develop end-stage renal disease in the second or third decades. Unlike most other forms of NPHP, NPHP20 does not have features of a ciliopathy and patients do not appear to have extrarenal manifestations (summary by Macia et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of nephronophthisis, see NPHP1 (OMIM ).

Related symptoms:

  • Short stature
  • Scoliosis
  • Abnormal facial shape
  • Renal insufficiency
  • Rod-cone dystrophy


SOURCES: OMIM MENDELIAN

More info about NEPHRONOPHTHISIS 20; NPHP20

Medium match SENIOR-LOKEN SYNDROME 9; SLSN9


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

Medium match SENIOR-LOKEN SYNDROME


Senior-Loken syndrome (SLSN) is a very rare autosomal recessive oculo-renal disease characterized by the association of nephronophthisis (NPHP), a chronic kidney disease, with retinal dystrophy.

SENIOR-LOKEN SYNDROME Is also known as renal-retinal syndrome|juvenile nephronophthisis with leber amaurosis|loken-senior syndrome|renal dysplasia-retinal aplasia syndrome|nephronophthisis with retinal dystrophy|slsn|renal dysplasia and retinal aplasia|senior-loken syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about SENIOR-LOKEN SYNDROME

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Other less relevant matches:

Medium match COENZYME Q10 DEFICIENCY, PRIMARY, 1; COQ10D1


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

Medium match ISOLATED COMPLEX III DEFICIENCY


Isolated complex III deficiency is a rare, genetic, mitochondrial oxidative phosphorylation disorder characterized by a wide spectrum of clinical manifestations ranging from isolated myopathy or transient hepatopathy to severe multisystem disorder (that may include hypotonia, failure to thrive, psychomotor delay, cardiomyopathy, encephalopathy, renal tubulopathy, hearing impairment, lactic acidosis, hypoglycemia and other signs and symptoms).

ISOLATED COMPLEX III DEFICIENCY Is also known as isolated coq-cytochrome c reductase deficiency|isolated ubiquinone-cytochrome c reductase deficiency|isolated mitochondrial respiratory chain complex iii deficiency|isolated coenzyme q-cytochrome c reductase deficiency

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ISOLATED COMPLEX III DEFICIENCY

Medium match SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY; SRTD9


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 9 WITH OR WITHOUT POLYDACTYLY; SRTD9 Is also known as mzsds|mainzer-saldino syndrome|renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia, and skeletal dysplasia|conorenal syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY; SRTD9

Medium match ALSTRÖM SYNDROME


Alström syndrome (AS) is a multisystemic disorder characterized by cone-rod dystrophy, hearing loss, obesity, insulin resistance and hyperinsulinemia, type 2 diabetes mellitus, dilated cardiomyopathy (DCM; see this term), and progressive hepatic and renal dysfunction.

ALSTRÖM SYNDROME Is also known as alss

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about ALSTRÖM SYNDROME

Medium match BARDET-BIEDL SYNDROME 10; BBS10


BBS10 is characterized by progressive retinal dystrophy, obesity, polydactyly, cognitive impairment, and renal dysplasia (Stoetzel et al., 2006). BBS10 represents a major locus for BBS, with mutations in the BBS10 gene accounting for approximately 20% of BBS patients (Stoetzel et al., 2006; Zaghloul and Katsanis, 2009).For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (OMIM ).

Related symptoms:

  • Cognitive impairment
  • Renal insufficiency
  • Obesity
  • Rod-cone dystrophy
  • Hypogonadism


SOURCES: OMIM MENDELIAN

More info about BARDET-BIEDL SYNDROME 10; BBS10

Low match BARDET-BIEDL SYNDROME 9; BBS9


BBS9 is an autosomal recessive disorder characterized by obesity, polydactyly, renal anomalies, retinopathy, and mental retardation (Abu-Safieh et al., 2012).For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Obesity
  • Rod-cone dystrophy
  • Polydactyly
  • Abnormality of the kidney


SOURCES: OMIM MENDELIAN

More info about BARDET-BIEDL SYNDROME 9; BBS9

Low match BARDET-BIEDL SYNDROME 7; BBS7


BBS7 is an autosomal recessive disorder characterized by retinitis pigmentosa, postaxial polydactyly, mental retardation, obesity, renal anomalies, and hypogenitalism (Harville et al., 2010). Zaghloul and Katsanis (2009) estimated the contribution of BBS7 gene mutations to the total BBS mutational load to be 1.50%.For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Obesity
  • Rod-cone dystrophy
  • Hypogonadism
  • Polydactyly


SOURCES: OMIM MENDELIAN

More info about BARDET-BIEDL SYNDROME 7; BBS7

Top 5 symptoms//phenotypes associated to Rod-cone dystrophy and Nephritis

Symptoms // Phenotype % cases
Polydactyly Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Renal insufficiency Common - Between 50% and 80% cases
Nystagmus Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Rod-cone dystrophy and Nephritis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Retinal dystrophy Retinopathy Ataxia Hypogonadism Obesity Cataract Short stature Cognitive impairment Visual loss Abnormality of the kidney Stage 5 chronic kidney disease Tubulointerstitial nephritis Hepatic fibrosis Seizures Sensorineural hearing impairment Nephropathy Hearing impairment Renal cyst Nephronophthisis Cholestasis Scoliosis Retinal degeneration Renal dysplasia Scarring Hepatic failure Vomiting Depressivity Blindness Fatigue Visual impairment Anemia Cardiomyopathy Failure to thrive Pigmentary retinopathy Encephalopathy Abnormal facial shape

Rare Symptoms - Less than 30% cases


Lactic acidosis Muscular hypotonia of the trunk Metabolic acidosis Specific learning disability Hypertrophic cardiomyopathy Respiratory failure Proteinuria Acidosis Cerebral atrophy Myoclonus Respiratory distress Cerebellar atrophy Exercise intolerance Hypergonadotropic hypogonadism Abnormal retinal morphology Ragged-red muscle fibers Skeletal muscle atrophy Respiratory insufficiency Short neck Hepatomegaly Postaxial polydactyly Recurrent urinary tract infections Cholangitis Glycosuria Decreased liver function Cardiomegaly Glomerulopathy Pyelonephritis Elevated hepatic transaminase Peripheral neuropathy Epicanthus Feeding difficulties Microcephaly Tubular atrophy Myoglobinuria Optic atrophy Pneumonia Nausea Cone-shaped epiphysis Abnormality of the skeletal system Hypermetropia Macular degeneration Diabetes insipidus Polyuria Hypertension Polydipsia Peripheral visual field loss Weight loss Photophobia Hyperreflexia Abnormality of retinal pigmentation Involuntary movements Progressive visual loss Nyctalopia Severe sensorineural hearing impairment Pallor Congenital hepatic fibrosis Exudative retinopathy Motor delay Spasticity Strabismus Muscle weakness Generalized hypotonia Growth delay Insulin-resistant diabetes mellitus Pulmonary fibrosis Abdominal distention Emphysema Glucose intolerance Acne Hyperglycemia Hyperostosis Hydroureter Impaired vibratory sensation Posterior subcapsular cataract Constriction of peripheral visual field Aplasia/Hypoplasia of the cerebellum Broad foot Asthma Truncal obesity Urinary urgency Bronchitis Alopecia of scalp Hypoventilation Autoimmune thrombocytopenia Thoracic scoliosis Pericarditis Subcapsular cataract Increased number of teeth Hyperuricemia Progressive sensorineural hearing impairment Retinal atrophy Hyperventilation Agenesis of permanent teeth Short finger Poor coordination Vesicoureteral reflux Oligomenorrhea Polyphagia Chorioretinal atrophy Pericardial effusion Epidermal acanthosis Hyperinsulinemia Obsessive-compulsive behavior Decreased testicular size Horizontal nystagmus Recurrent pneumonia Short toe Otitis media Gynecomastia Sinusitis Hyperpigmentation of the skin Insulin resistance Anorexia Chronic diarrhea Generalized hirsutism Ketoacidosis Left ventricular hypertrophy Cyanosis Hepatitis Optic disc pallor Type II diabetes mellitus Recurrent otitis media Hypertriglyceridemia Pulmonary arterial hypertension Increased body weight Hypogonadotrophic hypogonadism Chronic otitis media Goiter Portal hypertension Lipodystrophy Urinary incontinence Round face Precocious puberty Elevated alkaline phosphatase Cholelithiasis Abnormality of the hand Polycystic ovaries Cone/cone-rod dystrophy Nephrocalcinosis Gastrointestinal hemorrhage Tachypnea Hypercholesterolemia Pancreatitis Hyperlipidemia Atherosclerosis Acanthosis nigricans Accelerated skeletal maturation Absence seizures Growth hormone deficiency Thickened skin Hematemesis Gingivitis Squared iliac bones Multifocal atrial tachycardia ST segment depression Facial hirsutism Chronic hepatic failure Hepatic necrosis Hypoplastic male external genitalia Abnormality of the pituitary gland Urethral obstruction Renovascular hypertension High-frequency sensorineural hearing impairment Albuminuria Abnormal muscle tone Female hypogonadism Impaired temperature sensation Urethral stricture Abnormal chorioretinal morphology Epigastric pain Abnormality of dental color Lumbar scoliosis Childhood-onset truncal obesity Increased circulating androgen level Chronic infection Widely-spaced incisors Macular dystrophy Abnormality of the femoral head Vitreous haze Localized hirsutism Abnormality of renal calyx morphology Abnormality of prothrombin EEG with occipital slowing Precocious puberty in females Abnormal retinal artery morphology Recurrent cystitis Nonproductive cough Glue ear Unilateral breast hypoplasia Dilatation of the bladder Thickened ears Granular macular appearance Receptive language delay Hyperostosis frontalis interna Chronic active hepatitis Abnormal adipose tissue morphology Abnormality of the urethra Abnormal spermatogenesis Pendular nystagmus Chronic obstructive pulmonary disease Retinal pigment epithelial atrophy Endocardial fibroelastosis Abnormal renal morphology Menstrual irregularities Decreased HDL cholesterol concentration Ovarian cyst High-frequency hearing impairment Restrictive cardiomyopathy Esophageal varix Chronic fatigue Abnormal renal physiology Myocardial fibrosis Male hypogonadism Oligospermia Myocarditis Recurrent bronchitis Acute hepatic failure Elevated serum creatinine Right ventricular hypertrophy Attenuation of retinal blood vessels Disinhibition Abnormal left ventricle morphology Decreased glomerular filtration rate Abnormality of female external genitalia Abnormality of the optic disc First degree atrioventricular block Melena Sleep disturbance Frontal balding Increased total bilirubin Vertical nystagmus Bull's eye maculopathy Multinodular goiter Hepatic encephalopathy Testicular atrophy Urethral stenosis Achromatopsia Acute pancreatitis Chills Poor fine motor coordination Urinary retention Arteriosclerosis Elevated C-reactive protein level Tubulointerstitial fibrosis Ascites Aplasia of the middle phalanx of the hand Hepatic steatosis Congenital cataract Aminoaciduria Hallucinations Hypertrichosis Tetraparesis Increased serum lactate Delayed myelination Coma Sensory neuropathy Small for gestational age Spastic tetraparesis Developmental regression Feeding difficulties in infancy Hypoglycemia EEG abnormality Coarse facial features Dementia Hypertonia Muscular hypotonia Crescentic glomerulonephritis Severe muscular hypotonia Brittle hair Exercise-induced myoglobinuria Persistent lactic acidosis Wide nasal bridge Brachydactyly Depressed nasal bridge High palate Micrognathia Hypertelorism Postterm pregnancy Decreased mitochondrial complex III activity in liver tissue Mitochondrial encephalopathy Emotional lability Histiocytoid cardiomyopathy Food intolerance Abnormality of the abdominal wall Microvesicular hepatic steatosis Hyperechogenic kidneys Proximal tubulopathy Hyperphosphaturia Rhabdomyolysis Abnormality of the coagulation cascade Rapid neurologic deterioration Recurrent myoglobinuria Hypoplasia of the corpus callosum Abnormality of bone mineral density Stroke Abnormal pyramidal sign Elevated serum creatine phosphokinase Intellectual disability, mild Gait disturbance Dysarthria Multiple small medullary renal cysts Azotemia Tapetoretinal degeneration Postural instability Retinal dysplasia Congenital blindness High hypermetropia Premature ovarian insufficiency Chronic kidney disease Incoordination Hypoplasia of the femoral head Renal fibrosis Situs inversus totalis Joint hyperflexibility Muscle cramps Glutaric aciduria Hyperextensible skin Steroid-resistant nephrotic syndrome Scanning speech Generalized amyotrophy Focal segmental glomerulosclerosis Ophthalmoparesis Glomerulonephritis Glomerulosclerosis Failure to thrive in infancy Oculomotor apraxia Progressive cerebellar ataxia Progressive muscle weakness Progressive neurologic deterioration Status epilepticus Pancytopenia Apraxia Nephrotic syndrome Bilateral sensorineural hearing impairment Memory impairment Aciduria Frontal bossing Hernia Hirsutism Abdominal pain Hepatosplenomegaly Pes planus Kyphoscoliosis Gastroesophageal reflux Dyspnea Hypothyroidism Autism Hyperkeratosis Diabetes mellitus Deeply set eye Hyperhidrosis Recurrent respiratory infections Alopecia Constipation Hyporeflexia Patent ductus arteriosus Clinodactyly Dilatation Kyphosis Jaundice Conductive hearing impairment Dystonia Ophthalmoplegia Tachycardia Cirrhosis Lymphadenopathy Dry skin Infertility Delayed puberty Carious teeth Pulmonic stenosis Hypotrichosis Myalgia Generalized tonic-clonic seizures Dilated cardiomyopathy Cough Sparse hair Abnormality of the liver Autistic behavior Respiratory tract infection Postnatal growth retardation Irritability Splenomegaly Behavioral abnormality Posteriorly rotated ears Oral cleft Sparse scalp hair Narrow forehead Microdontia Bifid uvula Macroglossia Delayed eruption of teeth Short distal phalanx of finger Abnormality of skin pigmentation Smooth philtrum Exotropia Craniosynostosis Wide mouth Low-set, posteriorly rotated ears Cleft lip Umbilical hernia Skeletal dysplasia High forehead Upslanted palpebral fissure Prominent forehead Short phalanx of finger Wide anterior fontanel Abnormality of the dentition Thoracic dysplasia Congestive heart failure Delayed speech and language development Pain Absence of renal corticomedullary differentiation Short proximal phalanx of finger Frontal upsweep of hair Accessory oral frenulum Hypoplasia of the capital femoral epiphysis Pancreatic cysts Cone-shaped epiphyses of the phalanges of the hand Short ribs Recurrent lower respiratory tract infections Scaphocephaly Prominent metopic ridge Acute kidney injury Short thorax Short femoral neck Trigonocephaly Widely spaced teeth Cutis laxa External genital hypoplasia



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