Rod-cone dystrophy, and Abnormality of the dentition

Diseases related with Rod-cone dystrophy and Abnormality of the dentition

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


Top matches:

Low match BARDET-BIEDL SYNDROME 4; BBS4


BBS4 is a rare multisystemic disorder characterized primarily by retinal dystrophy, obesity, polydactyly, and renal dysfunction that accounts for less than 3% of BBS (Katsanis et al., 2002). Anosmia has been described in patients with BBS4 (Iannaccone et al., 2005), as well as polydactyly confined to the hands (Carmi et al., 1995).For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Cryptorchidism
  • Cognitive impairment
  • Brachydactyly
  • Blindness


SOURCES: OMIM MENDELIAN

More info about BARDET-BIEDL SYNDROME 4; BBS4

Low match RETINITIS PIGMENTOSA-JUVENILE CATARACT-SHORT STATURE-INTELLECTUAL DISABILITY SYNDROME


RETINITIS PIGMENTOSA-JUVENILE CATARACT-SHORT STATURE-INTELLECTUAL DISABILITY SYNDROME Is also known as retinal dystrophy-juvenile cataract-short stature syndrome

Related symptoms:

  • Global developmental delay
  • Short stature
  • Abnormal facial shape
  • Cataract
  • Malar flattening


SOURCES: ORPHANET OMIM MENDELIAN

More info about RETINITIS PIGMENTOSA-JUVENILE CATARACT-SHORT STATURE-INTELLECTUAL DISABILITY SYNDROME

Low 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

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Other less relevant matches:

Low match BARDET-BIEDL SYNDROME 21; BBS21


BBS21 is an autosomal recessive ciliopathy characterized by obesity, postaxial polydactyly, retinal degeneration, and mild cognitive impairment (Heon et al., 2016; Khan et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (OMIM ).

Related symptoms:

  • Cognitive impairment
  • Delayed speech and language development
  • Myopia
  • Blindness
  • Abnormality of the dentition


SOURCES: OMIM MENDELIAN

More info about BARDET-BIEDL SYNDROME 21; BBS21

Low match NEPHRONOPHTHISIS 1; NPHP1


Nephronophthisis is an autosomal recessive cystic kidney disease that leads to renal failure in childhood or adolescence. It is the most frequent genetic cause of renal failure in children. NPHP may be combined with extrarenal manifestations, such as liver fibrosis, situs inversus, or cardiac malformations. When nephronophthisis is combined with retinitis pigmentosa, the disorder is known as Senior-Loken syndrome (SLSN1 ); when it is combined with cerebellar vermis hypoplasia, the disorder is known as Joubert syndrome (JBTS1 ); and when it is combined with multiple developmental and neurologic abnormalities, the disorder is often known as Meckel-Gruber syndrome (MKS1 ). Because most NPHP gene products localize to the cilium or its associated structures, nephronophthisis and the related syndromes have been termed 'ciliopathies' (summary by Hoff et al., 2013).Clinical features of familial juvenile nephronophthisis include anemia, polyuria, polydipsia, isosthenuria, and death in uremia. Simms et al. (2009) provided a detailed review of nephronophthisis, including a discussion of clinical features and molecular genetics. Genetic Heterogeneity of NephronophthisisNPHP2 (OMIM ) is caused by mutation in the INVS gene (OMIM ) on chromosome 9q31; NPHP3 (OMIM ) is caused by mutation in the NPHP3 gene (OMIM ) on chromosome 3q22; NPHP4 (OMIM ) is caused by mutation in the NPHP4 gene (OMIM ) on chromosome 1p36; NPHP7 (OMIM ) is caused by mutation in the GLIS2 gene (OMIM ) on chromosome 16p13; NPHP9 (OMIM ) is caused by mutation in the NEK8 gene (OMIM ) on chromosome 17q11; NPHP11 (OMIM ) is caused by mutation in the TMEM67 gene (OMIM ) on chromosome 8q22; NPHP12 (OMIM ) is caused by mutation in the TTC21B gene (OMIM ) on chromosome 2q24; NPHP13 (OMIM ) is caused by mutation in the WDR19 gene (OMIM ) on chromosome 4p14; NPHP14 (OMIM ) is caused by mutation in the ZNF423 gene (OMIM ) on chromosome 16; NPHP15 (OMIM ) is caused by mutation in the CEP164 gene (OMIM ) on chromosome 11q; NPHP16 (OMIM ) is caused by mutation in the ANKS6 gene (OMIM ) on chromosome 9q22; NPHP18 (OMIM ) is caused by mutation in the CEP83 gene (OMIM ) on chromosome 12q22; NPHP19 (OMIM ) is caused by mutation in the DCDC2 gene (OMIM ) on chromosome 6p22; and NPHP20 (OMIM ) is caused by mutation in the MAPKBP1 gene (OMIM ) on chromosome 15q13.

NEPHRONOPHTHISIS 1; NPHP1 Is also known as nephronophthisis, familial juvenile|nph1

Related symptoms:

  • Growth delay
  • Anemia
  • Hypertension
  • Renal insufficiency
  • Rod-cone dystrophy


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about NEPHRONOPHTHISIS 1; NPHP1

Low match USHER SYNDROME TYPE 2


Usher syndrome is a clinically and genetically heterogeneous autosomal recessive disorder characterized by sensorineural hearing deficiencies at birth and later development of progressive retinitis pigmentosa (RP). It is the most frequent cause of combined deafness and blindness in adults and affects 3 to 6% of children born with hearing impairment. In brief, patients with Usher syndrome type II have mild hearing impairment with normal vestibular responses. Type II is the most common of the 3 Usher syndromes (Eudy et al., 1998).See {276900} for clinical characterization of Usher syndrome types I, II, and III.For a discussion of genetic heterogeneity of Usher syndrome type II, see USH2A (OMIM ).

USHER SYNDROME TYPE 2 Is also known as ush2

Related symptoms:

  • Hearing impairment
  • Ataxia
  • Nystagmus
  • Sensorineural hearing impairment
  • Cataract


SOURCES: ORPHANET OMIM MENDELIAN

More info about USHER SYNDROME TYPE 2

Low match RETINITIS PIGMENTOSA 40; RP40


Related symptoms:

  • Rod-cone dystrophy
  • Abnormal light- and dark-adapted electroretinogram


SOURCES: OMIM MENDELIAN

More info about RETINITIS PIGMENTOSA 40; RP40

Low match BARDET-BIEDL SYNDROME 14; BBS14


BBS14 is an autosomal recessive ciliopathy described in a single patient with features of retinitis pigmentosa, obesity, mental retardation, and renal disease (Leitch et al., 2008).For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Obesity
  • Rod-cone dystrophy


SOURCES: OMIM MESH MENDELIAN

More info about BARDET-BIEDL SYNDROME 14; BBS14

Top 5 symptoms//phenotypes associated to Rod-cone dystrophy and Abnormality of the dentition

Symptoms // Phenotype % cases
Retinal degeneration Uncommon - Between 30% and 50% cases
Blindness Uncommon - Between 30% and 50% cases
Myopia Uncommon - Between 30% and 50% cases
Obesity Uncommon - Between 30% and 50% cases
Retinal dystrophy Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Nyctalopia

Rare Symptoms - Less than 30% cases


Intellectual disability Abnormality of retinal pigmentation Nephropathy Nystagmus Cataract Global developmental delay Renal cyst Renal insufficiency Cognitive impairment Polydactyly Hyposthenuria Tubulointerstitial abnormality Chorioretinal degeneration Tubulointerstitial fibrosis Congenital hepatic fibrosis Tubular atrophy Retinal dysplasia Agenesis of permanent teeth Nephronophthisis Polyuria Polydipsia Situs inversus totalis Hepatic fibrosis Cerebellar vermis hypoplasia Stage 5 chronic kidney disease Abnormality of the kidney Abnormality of the nervous system Proteinuria Hypertension Anemia Growth delay Hyperautofluorescent macular lesion Renal corticomedullary cysts Hemianopia Multiple small medullary renal cysts Microdontia Iris hypopigmentation Scotoma Subcortical cerebral atrophy Vestibular dysfunction Aplasia/Hypoplasia of the cerebellum Abnormality of dental color Abnormal electroretinogram Schizophrenia Abnormality of dental enamel Hallucinations Carious teeth Tubular basement membrane disintegration Anxiety Mild hearing impairment Cerebral cortical atrophy Retinal thinning Visual loss Depressivity Sensorineural hearing impairment Abnormality of the inner ear Ataxia Hearing impairment Reduced amplitude of dark-adapted bright flash electroretinogram a-wave Hypodontia Hypoplasia of the fovea Retinopathy Hematuria Umbilical hernia Inguinal hernia Hernia Visual impairment Mottled pigmentation Cone dysfunction syndrome Widely spaced teeth Dental malocclusion Upslanted palpebral fissure Nephrolithiasis Malar flattening Abnormal facial shape Short stature External genital hypoplasia Anosmia Reduced visual acuity Hypogonadism Clinodactyly Syndactyly Brachydactyly Recurrent urinary tract infections Horizontal nystagmus Retinal atrophy Renal calcium wasting Chorioretinal atrophy Constriction of peripheral visual field Cone/cone-rod dystrophy Horseshoe kidney High myopia Postaxial hand polydactyly Cryptorchidism Postaxial polydactyly Elevated hepatic transaminase Delayed speech and language development Hypermagnesiuria Nephrocalcinosis Renal magnesium wasting Macular coloboma Abnormality of calcium-phosphate metabolism Tapetoretinal degeneration Hypomagnesemia Amelogenesis imperfecta Severe vision loss Chorioretinal coloboma Hypercalciuria Chronic kidney disease Abnormal light- and dark-adapted electroretinogram



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Intellectual disability, severe and Interphalangeal joint contracture of finger, related diseases and genetic alterations Brachydactyly and Small nail, related diseases and genetic alterations High palate and Hypodontia, related diseases and genetic alterations Low-set ears and Hypoglycemia, related diseases and genetic alterations Sensorineural hearing impairment and Diabetes mellitus, related diseases and genetic alterations Anemia and Gastrointestinal hemorrhage, related diseases and genetic alterations Muscular hypotonia and Otitis media, related diseases and genetic alterations

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