Arthritis, and Retinal dystrophy

Diseases related with Arthritis and Retinal dystrophy

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


Top 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 COHEN SYNDROME; COH1


Cohen syndrome is an autosomal recessive multisystem disorder characterized by many clinical features, including facial dysmorphism, microcephaly, truncal obesity, intellectual disability, progressive retinopathy, and intermittent congenital neutropenia (summary by Duplomb et al., 2014).

COHEN SYNDROME; COH1 Is also known as chs1, formerly|pepper syndrome|coh|hypotonia, obesity, and prominent incisors

Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about COHEN SYNDROME; COH1

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Other less relevant matches:

Low match SNOWFLAKE VITREORETINAL DEGENERATION


Snowflake vitreoretinal degeneration (SVD) is characterised by the presence of small granular-like deposits resembling snowflakes in the retina, fibrillary vitreous degeneration and cataract. The prevalence is unknown but the disorder has been described in several families. Transmission is autosomal dominant and the causative gene has been localised to a small region on chromosome 2q36.

SNOWFLAKE VITREORETINAL DEGENERATION Is also known as snowflake vitreoretinal degeneration

Related symptoms:

  • Hearing impairment
  • Cleft palate
  • Cataract
  • Arthritis
  • Cleft lip


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about SNOWFLAKE VITREORETINAL DEGENERATION

Low match AUTOSOMAL DOMINANT RHEGMATOGENOUS RETINAL DETACHMENT


Autosomal dominant rhegmatogenous retinal detachment is a rare, hereditary, non-syndromic form of vitreoretinopathy characterized by retinal tears due to abnormal vitreous, and commonly present refractive errors. No other signs or symptoms of Stickler syndrome is present.

AUTOSOMAL DOMINANT RHEGMATOGENOUS RETINAL DETACHMENT Is also known as stickler syndrome, type i, predominantly ocular|stickler syndrome, atypical

Related symptoms:

  • Hearing impairment
  • Cleft palate
  • Cataract
  • Visual impairment
  • Epicanthus


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT RHEGMATOGENOUS RETINAL DETACHMENT

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 RETINITIS PIGMENTOSA AND ERYTHROCYTIC MICROCYTOSIS; RPEM


Related symptoms:

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Ataxia
  • Anemia


SOURCES: OMIM MENDELIAN

More info about RETINITIS PIGMENTOSA AND ERYTHROCYTIC MICROCYTOSIS; RPEM

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 Arthritis and Retinal dystrophy

Symptoms // Phenotype % cases
Rod-cone dystrophy Common - Between 50% and 80% cases
Nyctalopia Uncommon - Between 30% and 50% cases
Hearing impairment Uncommon - Between 30% and 50% cases
Cataract Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Arthritis and Retinal dystrophy. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Rheumatoid arthritis Depressivity Retinal detachment Blindness Fever Seizures Failure to thrive Intellectual disability Ataxia Myopia

Rare Symptoms - Less than 30% cases


Pallor Postnatal growth retardation Growth delay Hypertelorism Aciduria Scoliosis Microcephaly Generalized hypotonia Short stature Optic disc pallor Genu valgum Erosive vitreoretinopathy Vitreoretinopathy Cleft palate Macular edema Abnormality of skin pigmentation Retinal degeneration Retrognathia Long eyelashes Obesity Visual impairment Recurrent aphthous stomatitis Recurrent skin infections Peripheral visual field loss Subcapsular cataract Posterior subcapsular cataract Edema Conjunctivitis Diarrhea Otitis media Sepsis Anemia Thrombocytopenia Fatigue Sensorineural hearing impairment Recurrent pneumonia Neoplasm Neutropenia Pneumonia Recurrent infections Skin rash Retinopathy Dilatation Reduced number of teeth Failure to thrive in infancy Decreased fetal movement High myopia Lumbar hyperlordosis Abnormality of dental morphology Open mouth Clumsiness Constriction of peripheral visual field Tall stature Exotropia Gingival overgrowth Cubitus valgus Intracranial hemorrhage Abnormality of retinal pigmentation Laryngomalacia Radioulnar synostosis Progressive microcephaly Preauricular skin tag Precocious puberty Short metatarsal Low anterior hairline Intellectual disability, progressive Sandal gap Leukopenia Venous thrombosis Mitral valve prolapse Growth hormone deficiency Narrow forehead Joint hypermobility Short philtrum Prominent nasal bridge Small for gestational age Finger syndactyly Neurological speech impairment Severe global developmental delay Synophrys Delayed puberty Immunodeficiency Joint hyperflexibility Smooth philtrum Astigmatism Arachnodactyly Myopathy Thick eyebrow Pigmentary retinopathy Iris coloboma Thick vermilion border High, narrow palate Small hand Highly arched eyebrow Tapered finger Single transverse palmar crease Microcornea Hypoplasia of the maxilla Short metacarpal Prominent nose Disproportionate tall stature Convex nasal ridge Progressive visual loss Cerebral hemorrhage Weak cry Truncal obesity Premature osteoarthritis Childhood-onset truncal obesity Hypoplastic philtrum Cat cry Slender toe Cleft lip Chorioretinal atrophy Pierre-Robin sequence Tractional retinal detachment Optically empty vitreous Snowflake vitreoretinal degeneration Epicanthus Skeletal dysplasia Osteoarthritis Epiphora Abnormal vitreous humor morphology Prominent eyelashes Rhegmatogenous retinal detachment Posterior vitreous detachment Membranous vitreous appearance Abnormal light- and dark-adapted electroretinogram Retinal atrophy Anisocytosis Juvenile rheumatoid arthritis Poikilocytosis Retinal pigment epithelial atrophy Elliptocytosis Decreased mean corpuscular volume Epiretinal membrane Decreased serum iron Ring scotoma Macrodontia of permanent maxillary central incisor Thick corpus callosum Abnormality of the hip bone Abnormality of the larynx Narrow nasal bridge Celiac disease Wide mouth Thoracic scoliosis Hiatus hernia Gingivitis Microglossia Vocal cord paralysis Facial hypotonia Misalignment of teeth Deep venous thrombosis Furrowed tongue Delayed speech and language development Bone spicule pigmentation of the retina Aplasia/Hypoplasia of the earlobes High-pitched cry Laryngeal stenosis Chorioretinal dysplasia Narrow philtrum Narrow palm Hemeralopia Cutis gyrata of scalp Chorioretinal dystrophy Hyperplasia of the maxilla Tapetoretinal degeneration Congenital neutropenia Granulocytopenia Bull's eye maculopathy Macrodontia Iris atrophy Thick hair Stroke Joint laxity Paralysis Papule Hepatitis Vomiting Splenomegaly Renal insufficiency Headache Constipation Hyperhidrosis Abdominal pain Arthralgia Hepatosplenomegaly Myalgia Decreased antibody level in blood Erythema Cough Infertility Hepatomegaly Vertigo Lymphadenopathy Nausea Abdominal distention Limitation of joint mobility Migraine Gastrointestinal hemorrhage Malabsorption Dehydration Eczema Nephrotic syndrome Vasculitis Purpura Urticaria Frontal bossing Flexion contracture Intestinal obstruction Recurrent cutaneous abscess formation Recurrent bacterial infections Encephalitis Hypocalcemia Chronic otitis media Osteomyelitis Cellulitis Bronchitis Glossoptosis Agammaglobulinemia Cor pulmonale Myelopathy Abnormality of the lymphatic system Thymoma Pyoderma Septic arthritis Abnormal lung morphology Abnormality of the tonsils Epididymitis Prostatitis Lymph node hypoplasia Enteroviral dermatomyositis syndrome Enteroviral hepatitis Meningitis Lymphopenia Skin ulcer Sinusitis Telangiectasia Chronic diarrhea Recurrent urinary tract infections Pain Apathy Leukocytosis Protruding ear Clinodactyly of the 5th finger Optic atrophy Macrocephaly Downslanted palpebral fissures Abnormality of the skeletal system Ventricular septal defect Respiratory distress Cardiomyopathy Behavioral abnormality Kyphosis Malar flattening Microphthalmia Hernia Pectus excavatum Visual loss Cerebellar hypoplasia Encephalopathy Diabetes mellitus Reduced visual acuity Hypothyroidism Mandibular prognathia Gastroesophageal reflux Macrotia Kyphoscoliosis Pes planus Thin upper lip vermilion Neonatal hypotonia Hypopigmented skin patches Intellectual disability, moderate Feeding difficulties in infancy Respiratory tract infection Intrauterine growth retardation Depressed nasal bridge Hypermelanotic macule Increased IgA level Elevated erythrocyte sedimentation rate Colitis Amyloidosis Autoimmunity Episodic fever Uveitis Weight loss Poor coordination Dementia Acrocyanosis Large forehead Peritonitis Alopecia Chills Neuritis Motor delay Micrognathia High palate Ptosis Cryptorchidism Muscular hypotonia Abnormal facial shape Strabismus Nystagmus Porokeratosis Pharyngitis Serositis Cervical lymphadenopathy Optic neuritis Neutrophilia Erysipelas Photoreceptor layer loss on macular OCT



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

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