Arthritis, and Cone/cone-rod dystrophy

Diseases related with Arthritis and Cone/cone-rod dystrophy

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


Top matches:

Low match NEWFOUNDLAND ROD-CONE DYSTROPHY; NFRCD


Related symptoms:

  • Visual impairment
  • Blindness
  • Rod-cone dystrophy
  • Nyctalopia
  • Retinal dystrophy


SOURCES: MESH OMIM MENDELIAN

More info about NEWFOUNDLAND ROD-CONE DYSTROPHY; NFRCD

Low match RETINITIS PIGMENTOSA 35; RP35


Related symptoms:

  • Blindness
  • Rod-cone dystrophy
  • Nyctalopia
  • Abnormality of skin pigmentation
  • Cone/cone-rod dystrophy


SOURCES: OMIM MESH MENDELIAN

More info about RETINITIS PIGMENTOSA 35; RP35

Low match CONE-ROD DYSTROPHY 12; CORD12


Related symptoms:

  • Visual loss
  • Reduced visual acuity
  • Progressive visual loss
  • Cutaneous photosensitivity
  • Cone/cone-rod dystrophy


SOURCES: MESH OMIM MENDELIAN

More info about CONE-ROD DYSTROPHY 12; CORD12

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Other less relevant matches:

Low match X-LINKED AGAMMAGLOBULINEMIA


X-linked agammaglobulinemia (XLA) is a clinically variable form of isolated agammaglobulinemia, an inherited immunodeficiency disorder (see this term), and is characterized in affected males by recurrent bacterial infections during infancy.

X-LINKED AGAMMAGLOBULINEMIA Is also known as imd1|bruton-type agammaglobulinemia|bruton type agammaglobulinemia|agammaglobulinemia, x-linked, type 1|immunodeficiency 1|btk-deficiency|agmx1

Related symptoms:

  • Short stature
  • Hearing impairment
  • Ataxia
  • Neoplasm
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about X-LINKED AGAMMAGLOBULINEMIA

Low match HYPERIMMUNOGLOBULINEMIA D WITH PERIODIC FEVER


Hyperimmunoglobinemia D with periodic fever (HIDS) is a rare autoinflammatory disease characterized by periodic attacks of fever and a systemic inflammatory reaction (cervical lymphadenopathy, abdominal pain, vomiting, diarrhea, arthralgias and skin signs).

HYPERIMMUNOGLOBULINEMIA D WITH PERIODIC FEVER Is also known as hyperimmunoglobinemia d with recurrent fever|hyper-igd syndrome|hyperimmunoglobulinemia d and periodic fever syndrome|partial mevalonate kinase deficiency|hids|periodic fever, dutch type|hyperimmunoglobulinemia d syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about HYPERIMMUNOGLOBULINEMIA D WITH PERIODIC FEVER

Low match CONE-ROD DYSTROPHY 19; CORD19


Related symptoms:

  • Visual impairment
  • Retinal dystrophy
  • Cone/cone-rod dystrophy
  • Cone dysfunction syndrome


SOURCES: OMIM MENDELIAN

More info about CONE-ROD DYSTROPHY 19; CORD19

Low match LEBER CONGENITAL AMAUROSIS 13; LCA13


Related symptoms:

  • Blindness
  • Rod-cone dystrophy
  • Nyctalopia
  • Hypermetropia
  • Retinal dystrophy


SOURCES: OMIM MESH MENDELIAN

More info about LEBER CONGENITAL AMAUROSIS 13; LCA13

Low match AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 3


Autosomal dominant spastic paraplegia type 3 is a rare, pure or complex subtype of hereditary spastic paraplegia, with highly variable phenotype, typically characterized by childhood-onset of minimally progressive, bilateral, mainly symmetric lower limb spasticity and weakness, associated with pes cavus, diminished vibration sense, sphincter disturbances and/or urinary bladder hyperactivity. Additional associated manifestations may include scoliosis, mild intellectual disability, optic atrophy, axonal motor neuropathy and/or distal amyotrophy.

AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 3 Is also known as strÜmpell disease

Related symptoms:

  • Global developmental delay
  • Ataxia
  • Growth delay
  • Cataract
  • Cognitive impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 3

Low match CONE-ROD DYSTROPHY 18; CORD18


Related symptoms:

  • Myopia
  • Reduced visual acuity
  • High myopia
  • Diplopia
  • Cone/cone-rod dystrophy


SOURCES: OMIM MENDELIAN

More info about CONE-ROD DYSTROPHY 18; CORD18

Low match STARGARDT DISEASE 3; STGD3


STARGARDT DISEASE 3; STGD3 Is also known as macular dystrophy with flecks, type 3|stargardt-like macular dystrophy, autosomal dominant

Related symptoms:

  • Visual impairment
  • Reduced visual acuity
  • Macular degeneration
  • Cone/cone-rod dystrophy
  • Macular dystrophy


SOURCES: OMIM MESH MENDELIAN

More info about STARGARDT DISEASE 3; STGD3

Top 5 symptoms//phenotypes associated to Arthritis and Cone/cone-rod dystrophy

Symptoms // Phenotype % cases
Rod-cone dystrophy Common - Between 50% and 80% cases
Nyctalopia Uncommon - Between 30% and 50% cases
Retinal dystrophy Uncommon - Between 30% and 50% cases
Blindness Uncommon - Between 30% and 50% cases
Visual impairment Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Arthritis and Cone/cone-rod dystrophy. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Ataxia Reduced visual acuity

Rare Symptoms - Less than 30% cases


Depressivity Fatigue Diarrhea Recurrent pneumonia Pneumonia Global developmental delay Macular dystrophy Cataract Skin rash Growth delay Fever Sepsis Failure to thrive Neoplasm Macular atrophy Scotoma Conjunctivitis Poor coordination Uveitis Peripheral visual field loss Cervical lymphadenopathy Optic neuritis Neutrophilia Increased IgA level Posterior subcapsular cataract Acrocyanosis Porokeratosis Large forehead Peritonitis Recurrent aphthous stomatitis Neuritis Chills Erysipelas Hypermelanotic macule Episodic fever Long eyelashes Limitation of joint mobility Migraine Gastrointestinal hemorrhage Aciduria Dehydration Eczema Optic disc pallor Nephrotic syndrome Vasculitis Subcapsular cataract Purpura Urticaria Apathy Intestinal obstruction Leukocytosis Pharyngitis Elevated erythrocyte sedimentation rate Colitis Amyloidosis Serositis Gait disturbance Cone dysfunction syndrome High myopia Ankle clonus Distal lower limb amyotrophy Distal lower limb muscle weakness Cystic renal dysplasia Lower limb hypertonia Hydrometrocolpos Hyperesthesia Myopia Diplopia Urinary urgency Central scotoma Dyschromatopsia Bull's eye maculopathy Foveal atrophy Foveal hyperpigmentation Macular degeneration Retinal pigment epithelial atrophy Dark choroid Lower limb hyperreflexia Toe walking Hypermetropia Babinski sign Congenital blindness Mild hypermetropia Cognitive impairment Motor delay Peripheral neuropathy Dysarthria Nausea Obesity Hypogonadism Impaired vibratory sensation Polydactyly Rigidity Abnormality of the kidney Postaxial polydactyly Bradykinesia Renal dysplasia Frequent falls Lower limb spasticity Spastic gait Abdominal distention Abdominal pain Lymphadenopathy Sinusitis Neutropenia Decreased antibody level in blood Otitis media Hepatitis Abnormal lung morphology Recurrent urinary tract infections Chronic diarrhea Telangiectasia Skin ulcer Retinopathy Lymphopenia Meningitis Hypocalcemia Recurrent bacterial infections Hypopigmented skin patches Recurrent skin infections Encephalitis Rheumatoid arthritis Malabsorption Autoimmunity Osteomyelitis Anemia Abnormality of color vision Abnormality of skin pigmentation Visual loss Progressive visual loss Cutaneous photosensitivity Short stature Hearing impairment Sensorineural hearing impairment Delayed speech and language development Weight loss Myopathy Immunodeficiency Dilatation Recurrent infections Thrombocytopenia Encephalopathy Alopecia Dementia Chronic otitis media Cellulitis Vertigo Hyperhidrosis Flexion contracture Hepatomegaly Frontal bossing Vomiting Splenomegaly Renal insufficiency Headache Constipation Arthralgia Hypertelorism Hepatosplenomegaly Myalgia Postnatal growth retardation Pallor Erythema Cough Papule Infertility Pain Scoliosis Bronchitis Septic arthritis Glossoptosis Agammaglobulinemia Cor pulmonale Myelopathy Abnormality of the lymphatic system Thymoma Pyoderma Recurrent cutaneous abscess formation Abnormality of the tonsils Microcephaly Epididymitis Prostatitis Lymph node hypoplasia Enteroviral dermatomyositis syndrome Enteroviral hepatitis Intellectual disability Seizures Generalized hypotonia Macular flecks



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