Intellectual disability, severe, and Osteoarthritis

Diseases related with Intellectual disability, severe and Osteoarthritis

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


Top matches:

Medium match LEUKOCYTE ADHESION DEFICIENCY, TYPE I; LAD


Leukocyte adhesion deficiency (LAD) is an autosomal recessive disorder of neutrophil function resulting from a deficiency of the beta-2 integrin subunit of the leukocyte cell adhesion molecule. The leukocyte cell adhesion molecule is present on the surface of peripheral blood mononuclear leukocytes and granulocytes and mediates cell-cell and cell-extracellular matrix adhesion. LAD is characterized by recurrent bacterial infections; impaired pus formation and wound healing; abnormalities of a wide variety of adhesion-dependent functions of granulocytes, monocytes, and lymphocytes; and a lack of beta-2/alpha-L, beta-2/alpha-M, and beta-2/alpha-X expression.

LEUKOCYTE ADHESION DEFICIENCY, TYPE I; LAD Is also known as lad1|lymphocyte function-associated antigen 1 immunodeficiency|lfa1 immunodeficiency

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Intellectual disability, severe
  • Immunodeficiency


SOURCES: OMIM MENDELIAN

More info about LEUKOCYTE ADHESION DEFICIENCY, TYPE I; LAD

Medium match METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE; MAHCC


Combined methylmalonic aciduria (MMA) and homocystinuria is a genetically heterogeneous disorder of cobalamin (cbl; vitamin B12) metabolism. The defect causes decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl), which results in decreased activity of the respective enzymes methylmalonyl-CoA mutase (MUT ) and methyltetrahydrofolate:homocysteine methyltransferase, also known as methionine synthase (MTR ). Different forms of the disorder have been classified according to complementation groups of cells in vitro: cblC, cblD (OMIM ), cblF (OMIM ), and cblJ (OMIM ).Isolated methylmalonic acidurias have also been classified by complementation groups: MMA 'mut' (OMIM ) is caused by mutation in the MUT gene on chromosome 6p21; MMA cblA (OMIM ) is caused by mutation in the MMAA gene (OMIM ) on 4q31; and MMA cblB (OMIM ) is caused by mutation in the MMAB gene (OMIM ) on 12q24.Methylmalonic aciduria and homocystinuria, cblC type, is the most common inborn error of vitamin B12 (cobalamin) metabolism, with about 250 known cases (Lerner-Ellis et al., 2006). Affected individuals may have developmental, hematologic, neurologic, metabolic, ophthalmologic, and dermatologic clinical findings. Although considered a disease of infancy or childhood, some individuals develop symptoms in adulthood (Rosenblatt et al., 1997).

METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE; MAHCC Is also known as vitamin b12 metabolic defect with combined deficiency of methylmalonyl-coa mutase and homocysteine:methyltetrahydrofolate methyltransferase|methylmalonic aciduria and homocystinuria, vitamin b12-responsive|methylmalonic acidemia and homocystinuria, cblc t

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE; MAHCC

Medium match VELOCARDIOFACIAL SYNDROME


VELOCARDIOFACIAL SYNDROME Is also known as chromosome 22q11.2 deletion syndrome|shprintzen vcf syndrome|vcf syndrome|vcfs

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about VELOCARDIOFACIAL SYNDROME

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Other less relevant matches:

Medium match MANNOSIDOSIS, ALPHA B, LYSOSOMAL; MANSA


Alpha-mannosidosis is an autosomal recessive lysosomal storage disease characterized by mental retardation, coarse facial features, skeletal abnormalities, hearing impairment, neurologic motor problems, and immune deficiency. Expression of the disease varies considerably, and there is a wide spectrum of clinical findings and severity. Affected children are often normal at birth and during early development. They present in early childhood with delayed psychomotor development, delayed speech, and hearing loss. Additional features include large head with prominent forehead, rounded eyebrows, flattened nasal bridge, macroglossia, widely spaced teeth, dysostosis multiplex, and motor impairment (summary by Malm and Nilssen, 2008). Classification SystemsTwo classification systems have been used to describe the clinical presentation of alpha-mannosidosis. The earlier system delineated a more severe 'type I,' which shows infantile onset, rapid mental deterioration, hypotonia, splenomegaly, severe dysostosis multiplex, and severe recurrent infections, often resulting in death by age 8 years. Individuals with the less severe 'type II' show normal early development with later childhood development of mental retardation, hearing loss, coarse facies, neurologic deterioration, and survival well into adulthood (summary by Desnick et al., 1976 and Gotoda et al., 1998). A later classification system delineated 3 clinical types. Type 1 is the mildest form, with onset after age 10 years, without skeletal abnormalities and very slow progression. Type 2 is a moderate form, with onset before age 10 years, presence of skeletal abnormalities, and slow progression with development of ataxia by age 20 to 30 years. Type 3 is the severe form, with onset in early infancy, skeletal abnormalities, and obvious progression leading to early death from primary central nervous system involvement or myopathy. Most patients belong to clinical type 2 (summary by Malm and Nilssen, 2008). Despite the clinical heterogeneity of the disorder, there are no apparent genotype/phenotype correlations (Berg et al., 1999; Riise Stensland et al., 2012).

MANNOSIDOSIS, ALPHA B, LYSOSOMAL; MANSA Is also known as alpha-mannosidosis|lysosomal alpha-d-mannosidase deficiency|alpha-mannosidase b deficiency

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about MANNOSIDOSIS, ALPHA B, LYSOSOMAL; MANSA

Medium match CHONDROCALCINOSIS 2; CCAL2


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

Medium match MILD SPONDYLOEPIPHYSEAL DYSPLASIA DUE TO COL2A1 MUTATION WITH EARLY-ONSET OSTEOARTHRITIS


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

Medium match HYPOCHONDROPLASIA


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

Medium match DYSSPONDYLOENCHONDROMATOSIS


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

Medium match STICKLER SYNDROME TYPE 1


Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about STICKLER SYNDROME TYPE 1

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, severe and Osteoarthritis

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Arthritis Uncommon - Between 30% and 50% cases
Cataract Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Intellectual disability, severe and Osteoarthritis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Scoliosis Hearing impairment Abnormal facial shape Muscular hypotonia Platyspondyly Seizures Hydrocephalus Psychosis Depressivity Mental deterioration Global developmental delay Skeletal dysplasia Confusion Pain Immunodeficiency Delayed skeletal maturation

Rare Symptoms - Less than 30% cases


Macrocephaly Arthralgia Sensorineural hearing impairment Arthropathy Exostoses Apathy Hip dysplasia Brachydactyly Myopia Pancytopenia Short toe Abnormality of the elbow Hemolytic anemia Joint hypermobility Retinal degeneration Joint hyperflexibility Kyphoscoliosis Depressed nasal ridge Hernia Bowing of the long bones Hallucinations Peripheral demyelination Dysmetria Anxiety Umbilical hernia Inguinal hernia Recurrent infections Cleft palate Genu valgum Delusions Abnormality of the endocrine system Behavioral abnormality Cerebellar atrophy Short neck Delayed speech and language development Cognitive impairment Congenital cataract Motor delay Microcephaly Congestive heart failure Ataxia Thrombocytopenia Dementia Anemia Recurrent bacterial infections Growth delay Rheumatoid arthritis Nystagmus Muscle weakness Gait ataxia Juvenile rheumatoid arthritis Macrotia Pneumonia High forehead Otitis media Hypohidrosis Limb ataxia Gliosis Delayed myelination Dental malocclusion Gingival overgrowth Decreased antibody level in blood Hypertrichosis Amblyopia Tall stature Hypercholesterolemia Optic disc pallor Type II diabetes mellitus Progressive neurologic deterioration Spastic gait Pretibial blistering Low anterior hairline Neurodevelopmental delay Severe sensorineural hearing impairment Aseptic necrosis Limb dystonia Bronchitis Thickened calvaria Abnormality of the sternum Hypoplasia of penis Femoral bowing Bowel incontinence Narrow palate Open bite Bowing of the legs Blue sclerae Flat occiput Heart murmur Chronic otitis media Prominent supraorbital ridges Increased intracranial pressure Widely spaced teeth Progressive cerebellar ataxia Reduced number of teeth Macroglossia Ventriculomegaly Midface retrusion Cerebral atrophy Malar flattening Kyphosis Splenomegaly Intellectual disability, mild Abnormality of the dentition Myopathy Talipes equinovarus Underdeveloped supraorbital ridges Abnormality of the skeletal system Frontal bossing Gait disturbance Optic atrophy Skeletal muscle atrophy Abnormality of the skull Aplasia/Hypoplasia involving the nose Dysarthria Areflexia Babinski sign Neurodegeneration Corneal opacity Highly arched eyebrow Thick eyebrow Impaired smooth pursuit Abnormality of the foot Hypermetropia Abnormality of the cerebral white matter High pitched voice Neurological speech impairment Broad forehead Recurrent respiratory infections Pectus carinatum Truncal obesity Respiratory tract infection Hepatosplenomegaly Coarse facial features Osteopenia Prematurely aged appearance Mandibular prognathia Prominent forehead Patellar dislocation Craniofacial hyperostosis Microdontia Proptosis Visual loss Hyperlordosis Schmorl's node Heberden's node Knee osteoarthritis Morphological abnormality of the central nervous system Hip pain Hip osteoarthritis Beaking of vertebral bodies Abnormality of the metaphysis Retinal detachment Irregular vertebral endplates Pathologic fracture Hypoplasia of the maxilla Joint stiffness Polyarticular chondrocalcinosis Neck pain Chondrocalcinosis Micromelia Abnormal form of the vertebral bodies Ankylosis Joint dislocation Multiple enchondromatosis Skin erosion Spondylometaphyseal dysplasia Abnormality of fibula morphology Enlarged joints Lower limb asymmetry Generalized joint laxity Vertebral segmentation defect Abnormality of ulnar metaphysis Long philtrum Cerebral calcification Childhood onset short-limb short stature Metaphyseal enchondromatosis Abnormality of femur morphology Short nose Spinal canal stenosis Genu varum Abnormality of pelvic girdle bone morphology Sleep apnea Hypomagnesemia Mitral valve prolapse Dysostosis multiplex Synovitis Severe short stature Long ear Abnormality of the gingiva Cranial hyperostosis Vacuolated lymphocytes Hypoglycemia Thoracolumbar kyphosis Abnormal echocardiogram Abnormal cornea morphology Cerebral dysmyelination Delayed puberty Abnormality of the rib cage Delayed eruption of teeth Anisospondyly Spondylolisthesis Abnormality of the helix Reduced ejection fraction Hydrocele testis Retinal thinning Micrognathia Hyperparathyroidism Abnormality of joint mobility Back pain Abnormality of epiphysis morphology Spinocerebellar tract disease in lower limbs Flattened moderately deformed vertebrae Synovial hypertrophy Progressive joint destruction Abnormality of dental structure Antineutrophil antibody positivity Abnormality of the ilium Synostosis of joints Hyperreflexia Decreased pulmonary function Generalized abnormality of skin Abnormal vitreous humor morphology Abnormality of vertebral epiphysis morphology Increased hepatic glycogen content Increased vertebral height Spondylolysis Oligosacchariduria Hypoplastic inferior ilia Perimembranous ventricular septal defect Hepatomegaly Hemiplegia Gastritis Myelopathy Homocystinuria Methylmalonic aciduria Cor pulmonale Megaloblastic anemia Thromboembolism Disproportionate tall stature Ectopia lentis Slurred speech Hemolytic-uremic syndrome Atherosclerosis Abnormality of retinal pigmentation Anorexia Recurrent urinary tract infections Broad-based gait Pulmonary arterial hypertension Abnormality of extrapyramidal motor function Pigmentary retinopathy Memory impairment Right ventricular failure Atrophy of the spinal cord Urinary incontinence Hypomethioninemia Atrial septal defect Hypoplasia of the corpus callosum Ventricular septal defect Fever High palate Thyroglossal cyst Cystathioninemia Diffuse hepatic steatosis Decreased methylmalonyl-CoA mutase activity Cystathioninuria Methylmalonic acidemia Vitamin B12 deficiency Decreased methionine synthase activity Decreased adenosylcobalamin Hyperhomocystinemia Decreased methylcobalamin Urogenital fistula Delirium Abnormality of macular pigmentation Chronic hemolytic anemia Aciduria Neutropenia Absent speech Recurrent bacterial skin infections Feeding difficulties Low-set ears Failure to thrive Recurrent gram-negative bacterial infections Recurrent staphylococcal infections Abnormal granulocyte morphology Severe periodontitis Decreased platelet glycoprotein IIb-IIIa Rectal abscess Abnormal thrombocyte morphology Hypertension Peritonitis Periodontitis Gingivitis Cellulitis Leukocytosis Recurrent skin infections Epistaxis Abnormal bleeding Bruising susceptibility Visual impairment Tremor Metabolic acidosis Malabsorption Hepatic steatosis Hematuria Nephropathy Long face Abnormality of skin pigmentation Paresthesia Unsteady gait Smooth philtrum Lower limb muscle weakness Lethargy Respiratory insufficiency Hip dislocation Retinopathy Feeding difficulties in infancy Proteinuria Difficulty walking Acidosis Reduced visual acuity Weight loss Cerebral cortical atrophy Renal insufficiency Abnormality of cardiovascular system morphology Obesity Epicanthus Pierre-Robin sequence Platybasia Interrupted aortic arch Graves disease Aplasia of the uterus Seborrheic dermatitis Pulmonary artery atresia Echolalia Myelomeningocele Truncus arteriosus Meningocele Right aortic arch Hearing abnormality Hypoparathyroidism Vitiligo Bipolar affective disorder Posterior embryotoxon Anal stenosis Autoimmune thrombocytopenia Submucous cleft hard palate Axonal loss Mood swings Impaired T cell function Basal ganglia calcification Perineal fistula Depressed nasal bridge Spasticity Strabismus Hypertelorism Unilateral primary pulmonary dysgenesis Unilateral lung agenesis Sacral meningocele Right aortic arch with mirror image branching Congenital conductive hearing impairment Vascular ring Duodenal stenosis Central nervous system degeneration Arteria lusoria Aplasia of the thymus Psychotic episodes Conotruncal defect Velopharyngeal insufficiency Giant platelets Retinal vascular tortuosity Paranoia Autoimmune hemolytic anemia Abnormality of the ear Hypospadias Autoimmunity Specific learning disability Renal agenesis Underdeveloped nasal alae Vesicoureteral reflux Chorea Bifid uvula Bulbous nose Anal atresia Pulmonic stenosis Blepharophimosis Tetralogy of Fallot Abnormality of the pinna Aggressive behavior Conductive hearing impairment Retrognathia Hypothyroidism Hyperactivity Posteriorly rotated ears Abnormal heart morphology Patent ductus arteriosus Amenorrhea Low posterior hairline Myopathic facies Abnormality of the hand Inflammation of the large intestine Hypoplasia of the brainstem Acne Unilateral renal agenesis Obsessive-compulsive behavior Psoriasiform dermatitis Dysdiadochokinesis Cholelithiasis Nasal speech Schizophrenia Primary amenorrhea Arnold-Chiari malformation Bicuspid aortic valve Holoprosencephaly Purpura Narrow palpebral fissure Multicystic kidney dysplasia Hypocalcemia Spina bifida Renal dysplasia Open mouth Hypoplastic nasal bridge



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

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