Myopia, and Renal insufficiency

Diseases related with Myopia and Renal insufficiency

In the following list you will find some of the most common rare diseases related to Myopia and Renal insufficiency that can help you solving undiagnosed cases.


Top matches:

Medium match AUTOSOMAL RECESSIVE ALPORT SYNDROME


Alport syndrome is a hereditary disorder of the basement membrane, resulting in a glomerulonephropathy causing renal failure. Progressive deafness and ocular anomalies may also occur (Mochizuki et al., 1994; Colville et al. (1997)). For a general phenotypic description of Alport syndrome, see the X-linked dominant form (OMIM ). Approximately 85% of cases of Alport syndrome are X-linked and about 15% are autosomal recessive; autosomal dominant inheritance (OMIM ) is rare (van der Loop et al., 2000).See also benign familial hematuria (BFH ), a similar but milder disorder.

Related symptoms:

  • Hearing impairment
  • Failure to thrive
  • Sensorineural hearing impairment
  • Cataract
  • Hypertension


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE ALPORT SYNDROME

Medium match ALPORT SYNDROME, AUTOSOMAL DOMINANT


Alport syndrome classically comprises nephritis, often progressing to renal failure, and sensorineural hearing loss (Alport, 1927). For a general phenotypic description of Alport syndrome, see the X-linked dominant form (OMIM ). Approximately 85% of cases of Alport syndrome are X-linked and about 15% are autosomal recessive (OMIM ); autosomal dominant inheritance is rare (van der Loop et al., 2000).Also see benign familial hematuria (BFH ), a similar but milder disorder also caused by mutation in the COL4A3 gene.An autosomal dominant disorder sharing the clinical features of Alport syndrome but with the addition of macrothrombocytopenia, known as Fechtner syndrome (OMIM ), is caused by mutation in the MYH9 gene (OMIM ) on chromosome 22q11.

Related symptoms:

  • Hearing impairment
  • Sensorineural hearing impairment
  • Hypertension
  • Myopia
  • Renal insufficiency


SOURCES: OMIM MENDELIAN

More info about ALPORT SYNDROME, AUTOSOMAL DOMINANT

Medium match LAMB2-RELATED INFANTILE-ONSET NEPHROTIC SYNDROME


LAMB2-related infantile-onset nephrotic syndrome is a rare primary glomerular disease due to homozygous mutations in LAMB2 gene, characterized by prenatal or early-onset progressive steroid-resistant nephrotic syndrome leading to renal failure, and variable ocular defects including myopia, fundus abnormalities, strabismus or nystagmus, without severe visual impairment or blindness. Patients present in early infancy with massive proteinuria, edema, hypertension, and hyperlipidemia. Psychomotor development is normal.

Related symptoms:

  • Scoliosis
  • Nystagmus
  • Strabismus
  • Muscle weakness
  • Ptosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about LAMB2-RELATED INFANTILE-ONSET NEPHROTIC SYNDROME

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Other less relevant matches:

Medium match FAMILIAL PRIMARY HYPOMAGNESEMIA WITH HYPERCALCIURIA AND NEPHROCALCINOSIS WITH SEVERE OCULAR INVOLVEMENT


Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement (FHHNCOI) is a form of familial primary hypomagnesemia (FPH, see this term), characterized by excessive magnesium and calcium renal wasting, bilateral nephrocalcinosis, progressive renal failure and severe ocular abnormalities.

FAMILIAL PRIMARY HYPOMAGNESEMIA WITH HYPERCALCIURIA AND NEPHROCALCINOSIS WITH SEVERE OCULAR INVOLVEMENT Is also known as meier-blumberg-imahorn syndrome|fhhnc with severe ocular involvement|hypercalciuria-bilateral macular coloboma syndrome|hypomagnesemia, familial, with hypercalciuria, nephrocalcinosis, and severe ocular involvement|macular coloboma, bilateral, with hyperc

Related symptoms:

  • Nystagmus
  • Visual impairment
  • Myopia
  • Renal insufficiency
  • Hernia


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about FAMILIAL PRIMARY HYPOMAGNESEMIA WITH HYPERCALCIURIA AND NEPHROCALCINOSIS WITH SEVERE OCULAR INVOLVEMENT

Medium match SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY; SRTD5


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 5 WITH OR WITHOUT POLYDACTYLY; SRTD5 Is also known as atd5|asphyxiating thoracic dystrophy 5

Related symptoms:

  • Growth delay
  • Cataract
  • Hypertension
  • Brachydactyly
  • Myopia


SOURCES: OMIM MENDELIAN

More info about SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY; SRTD5

Medium match ALPORT SYNDROME-INTELLECTUAL DISABILITY-MIDFACE HYPOPLASIA-ELLIPTOCYTOSIS SYNDROME


Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome is characterised by the association of Alport syndrome, midface hypoplasia, intellectual deficit and elliptocytosis. It has been described in two families. The syndrome is transmitted as an X-linked trait is caused by a contiguous gene deletion in Xq22.3 involving several genes including COL4A5, FACL4 and AMMECR1.

ALPORT SYNDROME-INTELLECTUAL DISABILITY-MIDFACE HYPOPLASIA-ELLIPTOCYTOSIS SYNDROME Is also known as ats-mr|chromosome xq22.3 telomeric deletion syndrome|amme syndrome|alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis|amme complex

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Strabismus
  • Sensorineural hearing impairment
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MENDELIAN

More info about ALPORT SYNDROME-INTELLECTUAL DISABILITY-MIDFACE HYPOPLASIA-ELLIPTOCYTOSIS SYNDROME

Medium match DEAFNESS-INTELLECTUAL DISABILITY SYNDROME, MARTIN-PROBST TYPE


Deafness-intellectual disability syndrome, Martin-Probst type is characterised by severe bilateral deafness, intellectual deficit, umbilical hernia and abnormal dermatoglyphics. It has been described in three males from three generations of one family. Mild facial dysmorphism (telangiectasias, hypertelorism, dental anomalies and a wide nasal root) was also present. Short stature, pancytopaenia, microcephaly, and renal and genitourinary anomalies were present in some of the patients. The mode of transmission is X-linked recessive and the causative gene has been localised to the q1-21 region of the X chromosome.

DEAFNESS-INTELLECTUAL DISABILITY SYNDROME, MARTIN-PROBST TYPE Is also known as martin-probst deafness-mental retardation syndrome|x-linked deafness-intellectual disability syndrome syndrome|martin-probst syndrome

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about DEAFNESS-INTELLECTUAL DISABILITY SYNDROME, MARTIN-PROBST TYPE

Medium match RENAL COLOBOMA SYNDROME


Renal coloboma syndrome (RCS) is a genetic condition characterized by optic nerve dysplasia and renal hypodysplasia.

RENAL COLOBOMA SYNDROME Is also known as renal-coloboma syndrome|congenital anomalies of the kidney and urinary tract with or without ocular abnormalities|optic coloboma, vesicoureteral reflux, and renal anomalies|papillo-renal syndrome|coloboma of optic nerve with renal disease|renal-coloboma s

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about RENAL COLOBOMA SYNDROME

Medium match FAMILIAL PRIMARY HYPOMAGNESEMIA WITH HYPERCALCIURIA AND NEPHROCALCINOSIS WITHOUT SEVERE OCULAR INVOLVEMENT


Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement (FHHN) is a form of familial primary hypomagnesemia (FPH; see this term), characterized by recurrent urinary tract infections, nephrolithiasis, bilateral nephrocalcinosis, renal magnesium (Mg) wasting, hypercalciuria and kidney failure.

FAMILIAL PRIMARY HYPOMAGNESEMIA WITH HYPERCALCIURIA AND NEPHROCALCINOSIS WITHOUT SEVERE OCULAR INVOLVEMENT Is also known as fhhnc without severe ocular involvement|homg3|hypomagnesemia, isolated renal|hypomagnesemia, primary, due to defect in renal tubular transport of magnesium|renal hypomagnesemia type 3|hypomagnesemia, familial, with hypercalciuria and nephrocalcinosis

Related symptoms:

  • Seizures
  • Hearing impairment
  • Nystagmus
  • Failure to thrive
  • Strabismus


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about FAMILIAL PRIMARY HYPOMAGNESEMIA WITH HYPERCALCIURIA AND NEPHROCALCINOSIS WITHOUT SEVERE OCULAR INVOLVEMENT

Medium match ALPORT SYNDROME, X-LINKED; ATS


Alport syndrome is an inherited disorder of the basement membrane, resulting in progressive renal failure due to glomerulonephropathy, variable sensorineural hearing loss, and variable ocular anomalies (review by Kashtan, 1999).Alport syndrome is a genetically heterogeneous disorder, with all forms resulting from mutations in genes encoding type IV collagen, which is a major structural component of the basement membrane. Approximately 85% of cases of Alport syndrome are X-linked and about 15% are autosomal recessive (OMIM ); autosomal dominant inheritance (OMIM ) is rare (Kashtan, 1999).See also benign familial hematuria (BFH ), a phenotypically similar, but milder disorder.Alport syndrome is also a feature of 2 contiguous gene deletion syndromes involving the COL4A5 gene: Alport syndrome and diffuse leiomyomatosis (OMIM ) and Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis (AMME ).

ALPORT SYNDROME, X-LINKED; ATS Is also known as nephropathy and deafness, x-linked

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Sensorineural hearing impairment
  • Cataract
  • Hypertension


SOURCES: ORPHANET OMIM MENDELIAN

More info about ALPORT SYNDROME, X-LINKED; ATS

Top 5 symptoms//phenotypes associated to Myopia and Renal insufficiency

Symptoms // Phenotype % cases
Proteinuria Common - Between 50% and 80% cases
Stage 5 chronic kidney disease Common - Between 50% and 80% cases
Hearing impairment Common - Between 50% and 80% cases
Sensorineural hearing impairment Common - Between 50% and 80% cases
Hypertension Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Myopia and Renal insufficiency. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Hematuria

Uncommon Symptoms - Between 30% and 50% cases


Nephritis Cataract Chronic kidney disease Nystagmus Intellectual disability Microscopic hematuria Nephrotic syndrome Strabismus Thickening of the glomerular basement membrane Diffuse glomerular basement membrane lamellation Nephrocalcinosis Nephrolithiasis Renal hypoplasia Edema Abnormality of the kidney

Rare Symptoms - Less than 30% cases


Umbilical hernia Nephropathy Recurrent urinary tract infections Hypomagnesemia Hypercalciuria Severe vision loss Amelogenesis imperfecta Midface retrusion Elevated serum creatinine Failure to thrive Renal magnesium wasting Hypermagnesiuria Renal calcium wasting Short stature Elliptocytosis Visual impairment Hypoparathyroidism Glomerulopathy Abnormal facial shape Intellectual disability, severe Hernia Inguinal hernia Malar flattening Glomerulonephritis Renal dysplasia Retinal detachment Bilateral sensorineural hearing impairment Corneal erosion Lenticonus Anterior lenticonus Seizures Muscle weakness Abdominal pain Macular degeneration Acidosis Multicystic kidney dysplasia Arthritis Horseshoe kidney Hypermetropia Feeding difficulties in infancy Abnormality of the genital system Ureterovesical junction obstruction Malabsorption Infertility Astigmatism Paresthesia Gingival overgrowth Hypocalcemia Progressive visual loss Arrhythmia Retinal coloboma Recurrent pyelonephritis Chorioretinal atrophy Optic nerve coloboma Hydrocele testis Multiple renal cysts Abnormality of the vasculature Soft skin Ureteropelvic junction obstruction Pyelonephritis Arnold-Chiari type I malformation Platybasia Visual field defect Macular hyperpigmentation Hyperextensible skin Lens luxation Bilateral renal hypoplasia Abnormality of the genitourinary system Mild proteinuria Optic nerve dysplasia Scleral staphyloma Renal malrotation High-frequency hearing impairment Orbital cyst Morning glory anomaly Renal potassium wasting Polydipsia Macular dystrophy Pallor Retinopathy Congenital cataract Dry skin Ichthyosis Subcutaneous nodule Leukopenia Corneal dystrophy Tinnitus Edema of the lower limbs Dyspnea Tubulointerstitial nephritis Foam cells Abdominal situs inversus Periorbital edema Macroscopic hematuria Uterine neoplasm Neoplasm of the colon Diffuse leiomyomatosis Lentiglobus Morphological abnormality of the semicircular canal Photophobia Weight loss Polyuria Persistence of primary teeth Male infertility Hyperuricemia Renal tubular acidosis Acute kidney injury Abnormality of lipid metabolism Ankylosis Oligospermia Enuresis Chondrocalcinosis Tetany Enuresis nocturna Thrombocytopenia Chorioretinitis Hyposthenuria Gliosis Medullary nephrocalcinosis Hypocitraturia Impaired urinary acidification Fatigue Dysphagia Vomiting Headache Vesicoureteral reflux Intellectual disability, moderate Confusion Oral cleft Growth delay Brachydactyly Respiratory insufficiency Respiratory distress Polydactyly Thin upper lip vermilion Cleft lip Respiratory tract infection Narrow chest Short foot Abnormality of calcium-phosphate metabolism Full cheeks Limb undergrowth Rhizomelia Short ribs Metaphyseal widening Thoracic dysplasia Pes valgus Short iliac bones Chronic tubulointerstitial nephritis Macular coloboma Tapetoretinal degeneration Depressed nasal bridge Limb muscle weakness Visual loss Myocardial infarction Hypophosphatemia Macrothrombocytopenia Anterior polar cataract Azotemia Scoliosis Ptosis Proximal muscle weakness Abnormality of skin pigmentation Chorioretinal coloboma Glomerulosclerosis Focal segmental glomerulosclerosis Neurodevelopmental delay Congenital nystagmus Miosis Congenital nephrotic syndrome Limited extraocular movements Microcoria Abnormality of retinal pigmentation Horizontal nystagmus Muscular hypotonia Macrocephaly Joint hyperflexibility Telangiectasia of the skin Dental malocclusion Wide intermamillary distance Hypoplasia of penis Pancytopenia Thick lower lip vermilion Telangiectasia Abnormal dermatoglyphics Bifid scrotum Congenital sensorineural hearing impairment Hypoplastic nipples Blepharophimosis Aplasia/Hypoplasia of the nipples Chordee Hydrocephalus Microphthalmia Glaucoma Reduced visual acuity Hydronephrosis Joint laxity Coloboma Everted lower lip vermilion Wide mouth Downslanted palpebral fissures Craniopharyngioma Anteverted nares Patent ductus arteriosus Thin vermilion border Thick vermilion border Tapered finger Abnormality of the metaphysis Abnormality of the hair Increased number of teeth Abnormal aortic valve morphology Erythrocyte cylindruria Telecanthus Microcephaly Hypertelorism Micrognathia Cryptorchidism Low-set ears Epicanthus Wide nasal bridge Abnormality of the dentition Micropenis Hypothyroidism Cylindruria



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Microphthalmia and Ophthalmoplegia, related diseases and genetic alterations

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