Intellectual disability, and Arthritis

Diseases related with Intellectual disability and Arthritis

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

Top matches:

Chondrocalcinosis, or cartilage calcification, is a common condition that usually results from deposition of crystals of calcium pyrophosphate dihydrate (CPPD) in articular hyaline and fibro-cartilage. CPPD crystal deposition may be asymptomatic or associated with characteristic acute attacks ('pseudogout') or chronic arthritis. It can be detected radiographically. Chondrocalcinosis occurs in 3 forms: a primary hereditary form (e.g., CCAL2); a form associated with metabolic disorders (e.g., hyperparathyroidism, hemochromatosis, and hypomagnesemia), and a sporadic form, which may in some cases represent the hereditary form (summary by Hughes et al., 1995 and Richette et al., 2009). Genetic Heterogeneity of ChondrocalcinosisAnother form of chondrocalcinosis (CCAL1 ) has been mapped to chromosome 8q.

CHONDROCALCINOSIS 2; CCAL2 Is also known as calcium pyrophosphate dihydrate deposition disease|cppdd|calcium gout|chondrocalcinosis, familial articular|calcium pyrophosphate arthropathy

Related symptoms:

  • Intellectual disability
  • Seizures
  • Pain
  • Arthralgia
  • Arthritis


SOURCES: MESH OMIM MENDELIAN

More info about CHONDROCALCINOSIS 2; CCAL2

Lesch-Nyhan syndrome (LNS) is the most severe form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency (see this term), a hereditary disorder of purine metabolism, and is associated with uric acid overproduction (UAO), neurological troubles, and behavioral problems.

LESCH-NYHAN SYNDROME Is also known as hypoxanthine guanine phosphoribosyltransferase deficiency, grade iv|hypoxanthine guanine phosphoribosyltransferase complete deficiency|hprt complete deficiency|hprt deficiency grade iv

Related symptoms:

  • Spasticity
  • Anemia
  • Behavioral abnormality
  • Intellectual disability, mild
  • Renal insufficiency


SOURCES: ORPHANET MENDELIAN

More info about LESCH-NYHAN SYNDROME

Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis is a type 2 collagen-related bone disorder characterized by precocious, generalized osteoarthritis (with onset as early as childhood) and mild, dysplastic spinal changes (flattening of vertebrae, irregular endplates and wedge-shaped deformities) resulting in a mildly short trunk.

MILD SPONDYLOEPIPHYSEAL DYSPLASIA DUE TO COL2A1 MUTATION WITH EARLY-ONSET OSTEOARTHRITIS Is also known as namaqualand hip dysplasia|nhd

Related symptoms:

  • Intellectual disability
  • Short stature
  • Pain
  • Congestive heart failure
  • Pneumonia


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about MILD SPONDYLOEPIPHYSEAL DYSPLASIA DUE TO COL2A1 MUTATION WITH EARLY-ONSET OSTEOARTHRITIS

Other less relevant matches:

Hypochondroplasia is characterized by disproportionate short stature, mild lumbar lordosis and limited extension of the elbow joints.

Related symptoms:

  • Intellectual disability
  • Scoliosis
  • Brachydactyly
  • Macrocephaly
  • Skeletal dysplasia


SOURCES: ORPHANET MENDELIAN

More info about HYPOCHONDROPLASIA

Nephronophthisis is an autosomal recessive cystic kidney disease characterized by onset of end-stage renal failure in the first 3 decades of life. The disorder is often associated with extrarenal manifestations, including liver fibrosis, retinal degeneration, and central nervous system abnormalities (summary by O'Toole et al., 2010).For a general phenotypic description and a discussion of genetic heterogeneity of nephronophthisis, see NPHP1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NEPHRONOPHTHISIS-LIKE NEPHROPATHY 1; NPHPL1

Dysspondyloenchondromatosis is a rare skeletal dysplasia characterized by anisospondyly and multiple enchondromas in vertebrae and the metaphyseal and diaphyseal parts of long tubular bones, leading to kyphoscoliosis and lower limb asymmetry.

Related symptoms:

  • Intellectual disability
  • Short stature
  • Scoliosis
  • Delayed skeletal maturation
  • Kyphoscoliosis


SOURCES: ORPHANET MENDELIAN

More info about DYSSPONDYLOENCHONDROMATOSIS

Related symptoms:

  • Intellectual disability
  • Sensorineural hearing impairment
  • Cleft palate
  • Cataract
  • Myopia


SOURCES: ORPHANET MENDELIAN

More info about STICKLER SYNDROME TYPE 1

NLRP12-associated hereditary periodic fever syndrome is a rare autoinflammatory syndrome characterized by episodic and recurrent periods of fever combined with various systemic manifestations such as myalgia, arthralgia, joint swelling, urticaria, headache and skin rash. Common trigger of these episodes is cold.

NLRP12-ASSOCIATED HEREDITARY PERIODIC FEVER SYNDROME Is also known as familial cold autoinflammatory syndrome type 2|naps12|fcas2

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Sensorineural hearing impairment
  • Pain
  • Fever


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about NLRP12-ASSOCIATED HEREDITARY PERIODIC FEVER SYNDROME

Hypermethioninemia due to methionine adenosyltransferase deficiency is a very rare metabolic disorder resulting in isolated hepatic hypermethioninemia that is usually benign due to partial inactivation of enzyme activity. Rarely patients have been found to have an odd odor or neurological disorders such as brain demyelination.

BRAIN DEMYELINATION DUE TO METHIONINE ADENOSYLTRANSFERASE DEFICIENCY Is also known as mat deficiency|mat i/iii deficiency|hypermethioninemia, isolated persistent|methionine adenosyltransferase deficiency

Related symptoms:

  • Intellectual disability
  • Growth delay
  • Nystagmus
  • Cognitive impairment
  • Hyperreflexia


SOURCES: OMIM ORPHANET MENDELIAN

More info about BRAIN DEMYELINATION DUE TO METHIONINE ADENOSYLTRANSFERASE DEFICIENCY

Low match LARON SYNDROME

Laron syndrome is a congenital disorder characterized by marked short stature associated with normal or high serum growth hormone (GH) and low serum insulin-like growth factor-1 (IGF-I) levels which fail to rise after exogenous GH administration.

LARON SYNDROME Is also known as complete growth hormone insensitivity|primary growth hormone insensitivity|gh receptor deficiency|growth hormone receptor deficiency|laron-type dwarfism|short stature due to growth hormone resistance|pituitary dwarfism ii|primary growth hormone resistance

Related symptoms:

  • Intellectual disability
  • Micrognathia
  • Abnormal facial shape
  • Motor delay
  • Brachydactyly


SOURCES: ORPHANET MENDELIAN

More info about LARON SYNDROME

Top 5 symptoms//phenotypes associated to Intellectual disability and Arthritis

Symptoms // Phenotype % cases
Osteoarthritis Common - Between 50% and 80% cases
Pain Uncommon - Between 30% and 50% cases
Arthralgia Uncommon - Between 30% and 50% cases
Platyspondyly Uncommon - Between 30% and 50% cases
Gout Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Intellectual disability and Arthritis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Sensorineural hearing impairment

Rare Symptoms - Less than 30% cases

Exostoses Abnormality of the elbow Delayed skeletal maturation Short stature Headache Scoliosis Brachydactyly Renal insufficiency Fever Skeletal dysplasia Hearing impairment Short toe Seizures Arthropathy Tremor Joint hyperflexibility Malar rash Lower limb pain Neuritis Optic neuritis Lymphocytosis Limb pain Elevated C-reactive protein level Recurrent aphthous stomatitis Episodic fever Leukocytosis Myalgia Urticaria Abnormal vitreous humor morphology Long philtrum Visual loss Proptosis Retinal detachment Hypoplasia of the maxilla Mitral valve prolapse Abnormality of epiphysis morphology Abnormality of vertebral epiphysis morphology Bilateral sensorineural hearing impairment Fatigue Vomiting Splenomegaly Abdominal pain Erythema Skin rash Lymphadenopathy Chest pain Growth delay Abnormality of eye movement Nystagmus Hypohidrosis Hypoglycemia Delayed puberty Delayed eruption of teeth Microdontia Hypoplasia of penis Blue sclerae Depressed nasal ridge Hypercholesterolemia Severe short stature Reduced number of teeth High pitched voice Truncal obesity Prematurely aged appearance Underdeveloped supraorbital ridges Abnormality of the skull Abnormality of the endocrine system Aplasia/Hypoplasia involving the nose High forehead Motor delay Cognitive impairment Hepatitis Hyperreflexia Dystonia Abnormality of the nervous system Abnormality of the eye Abnormality of the liver Myopia Peripheral demyelination Anorexia Abnormal facial shape Aortic regurgitation Dysdiadochokinesis CNS demyelination Homocystinuria Hypertyrosinemia Hypermethioninemia Halitosis Micrognathia Short nose Enlarged joints Cataract Hip pain Joint hypermobility Hip dysplasia Pathologic fracture Irregular vertebral endplates Beaking of vertebral bodies Hip osteoarthritis Morphological abnormality of the central nervous system Pneumonia Knee osteoarthritis Heberden's node Schmorl's node Macrocephaly Hyperlordosis Micromelia Abnormality of the metaphysis Joint stiffness Congestive heart failure Bowing of the long bones Polyarticular chondrocalcinosis Back pain Hyperparathyroidism Ankylosis Hypomagnesemia Chondrocalcinosis Neck pain Spasticity Hyperuricemia Anemia Behavioral abnormality Intellectual disability, mild Intellectual disability, moderate Abnormality of movement Hematuria Hemiplegia/hemiparesis Abnormal form of the vertebral bodies Sleep apnea Cleft palate Lower limb asymmetry Kyphoscoliosis Genu valgum Cerebral calcification Joint dislocation Vertebral segmentation defect Generalized joint laxity Abnormality of fibula morphology Renal corticomedullary cysts Spondylometaphyseal dysplasia Skin erosion Multiple enchondromatosis Anisospondyly Pretibial blistering Abnormality of ulnar metaphysis Metaphyseal enchondromatosis Tubular basement membrane disintegration Chronic pancreatitis Abnormality of pelvic girdle bone morphology Dilated cardiomyopathy Genu varum Spinal canal stenosis Abnormality of femur morphology Childhood onset short-limb short stature Hypertension Cardiomyopathy Abnormality of the kidney Stage 5 chronic kidney disease Pancreatic cysts Retinal degeneration Renal cyst Pancreatitis Nephronophthisis Arachnoid cyst Tubular atrophy Kinetic tremor Hypoplastic nasal bridge


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Myopia and Pancreatitis, related diseases and genetic alterations Delayed speech and language development and Retinal dystrophy, related diseases and genetic alterations Pain and Azoospermia, related diseases and genetic alterations Breast carcinoma and Intellectual disability, profound, related diseases and genetic alterations Cleft palate and Alzheimer disease, related diseases and genetic alterations Seizures and Micromelia, related diseases and genetic alterations