Arthritis, and Delayed puberty

Diseases related with Arthritis and Delayed puberty

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


Top matches:

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

Low match GLYCOGEN STORAGE DISEASE IC; GSD1C


GLYCOGEN STORAGE DISEASE IC; GSD1C Is also known as gsd ic

Related symptoms:

  • Hypertension
  • Hepatomegaly
  • Renal insufficiency
  • Hypoglycemia
  • Proteinuria


SOURCES: ORPHANET OMIM MENDELIAN

More info about GLYCOGEN STORAGE DISEASE IC; GSD1C

Low match HEMOCHROMATOSIS TYPE 2


Hemochromatosis type 2 (juvenile) is the early-onset and most severe form of rare hereditary hemochromatosis (HH; see this term), a group of diseases characterized by excessive tissue iron deposition of genetic origin.

HEMOCHROMATOSIS TYPE 2 Is also known as juvenile hemochromatosis

Related symptoms:

  • Muscle weakness
  • Pain
  • Hypertension
  • Hepatomegaly
  • Cardiomyopathy


SOURCES: OMIM ORPHANET MENDELIAN

More info about HEMOCHROMATOSIS TYPE 2

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Other less relevant matches:

Low match STAT3-RELATED EARLY-ONSET MULTISYSTEM AUTOIMMUNE DISEASE


Infantile-onset multisystem autoimmune disease-1 is characterized by early childhood onset of a spectrum of autoimmune disorders affecting multiple organs. Common manifestations include insulin-dependent diabetes mellitus and autoimmune enteropathy, or celiac disease, and autoimmune hematologic disorders. Other features include short stature and nonspecific dermatitis. More variable features include hypothyroidism, autoimmune arthritis, and delayed puberty. Some patients may show recurrent infections. The disorder results from an inborn error of cytokine signaling (summary by Flanagan et al., 2014 and Milner et al., 2015). Genetic Heterogeneity of Infantile-Onset Multisystem Autoimmune DiseaseSee also ADMIO2 (OMIM ), caused by mutation in the ZAP70 gene (OMIM ) on chromosome 2q12.

Related symptoms:

  • Short stature
  • Pain
  • Anemia
  • Abnormality of the dentition
  • Immunodeficiency


SOURCES: OMIM ORPHANET MENDELIAN

More info about STAT3-RELATED EARLY-ONSET MULTISYSTEM AUTOIMMUNE DISEASE

Low match GLYCOGEN STORAGE DISEASE DUE TO GLUCOSE-6-PHOSPHATASE DEFICIENCY TYPE IB


Glycogenosis due to glucose-6-phosphatase deficiency (G6P) type b, or glycogen storage disease (GSD) type 1b, is a type of glycogenosis due to G6P deficiency (see this term).

GLYCOGEN STORAGE DISEASE DUE TO GLUCOSE-6-PHOSPHATASE DEFICIENCY TYPE IB Is also known as glycogenosis due to glucose-6-phosphatase transport defect type ib|gsd type ib|glycogenosis due to glucose-6-phosphatase deficiency type 1b|glycogen storage disease type ib|gsd due to g6p deficiency type ib|glycogen storage disease due to g6p deficiency t

Related symptoms:

  • Seizures
  • Short stature
  • Growth delay
  • Hypertension
  • Hepatomegaly


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about GLYCOGEN STORAGE DISEASE DUE TO GLUCOSE-6-PHOSPHATASE DEFICIENCY TYPE IB

Low match MUCKLE-WELLS SYNDROME


Muckle-Wells syndrome (MWS) is an intermediate form of cryopyrin-associated periodic syndrome (CAPS; see this term) and is characterized by recurrent fever (with malaise and chills), recurrent urticaria-like skin rash, sensorineural deafness, general signs of inflammation (eye redness, headaches, arthralgia/myalgia) and potentially life-threatening secondary amyloidosis (AA type).

MUCKLE-WELLS SYNDROME Is also known as neutrophilic urticaria

Related symptoms:

  • Short stature
  • Anemia
  • Hepatomegaly
  • Fever
  • Optic atrophy


SOURCES: ORPHANET MENDELIAN

More info about MUCKLE-WELLS SYNDROME

Low match GROWTH HORMONE INSENSITIVITY WITH IMMUNODEFICIENCY


GROWTH HORMONE INSENSITIVITY WITH IMMUNODEFICIENCY Is also known as growth hormone insensitivity due to postreceptor defect|laron syndrome due to postreceptor defect

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Hearing impairment
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about GROWTH HORMONE INSENSITIVITY WITH IMMUNODEFICIENCY

Low match GLYCOGEN STORAGE DISEASE IA; GSD1A


Glycogen storage disease type I, also known as von Gierke disease, typically manifests during the first year of life with severe hypoglycemia and hepatomegaly caused by the accumulation of glycogen. Affected individuals exhibit growth retardation, delayed puberty, lactic acidemia, hyperlipidemia, hyperuricemia, and in adults a high incidence of hepatic adenomas (summary by Lei et al., 1993).

GLYCOGEN STORAGE DISEASE IA; GSD1A Is also known as gsd1|hepatorenal form of glycogen storage disease|hepatorenal glycogenosis|glucose-6-phosphatase deficiency|gsd ia|von gierke disease|glycogen storage disease i

Related symptoms:

  • Seizures
  • Short stature
  • Growth delay
  • Neoplasm
  • Muscular hypotonia


SOURCES: ORPHANET OMIM MENDELIAN

More info about GLYCOGEN STORAGE DISEASE IA; GSD1A

Low match NEUROECTODERMAL-ENDOCRINE SYNDROME


Neuroectodermal-endocrine syndrome is characterised by a combination of endocrine and neuroectodermal abnormalities, including low growth hormone levels, delayed puberty, type II diabetes mellitus, mild intellectual deficit, sensorineural deafness, characteristic facial appearance and alopecia. It has been described in four sibs from Myanmar.

NEUROECTODERMAL-ENDOCRINE SYNDROME Is also known as pseudoachondroplastic dysplasia|oerter-friedman-anderson syndrome|spondyloepiphyseal dysplasia, pseudoachondroplastic

Related symptoms:

  • Short stature
  • Scoliosis
  • Growth delay
  • Pain
  • Brachydactyly


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about NEUROECTODERMAL-ENDOCRINE SYNDROME

Low match GAUCHER DISEASE TYPE 1


Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD; see this term) characterized by organomegaly, bone involvement and cytopenia.

GAUCHER DISEASE TYPE 1 Is also known as gaucher disease, juvenile and adult, cerebral|gd iii|gaucher disease, chronic neuronopathic type|non-cerebral juvenile gaucher disease|gaucher disease, subacute neuronopathic type

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Scoliosis
  • Ataxia


SOURCES: ORPHANET OMIM MENDELIAN

More info about GAUCHER DISEASE TYPE 1

Top 5 symptoms//phenotypes associated to Arthritis and Delayed puberty

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Hepatomegaly Common - Between 50% and 80% cases
Growth delay Uncommon - Between 30% and 50% cases
Hypoglycemia Uncommon - Between 30% and 50% cases
Osteoarthritis Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Arthritis and Delayed puberty. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Anemia Recurrent infections Osteoporosis Hepatocellular carcinoma Seizures Hypertension Proteinuria Delayed skeletal maturation Portal hypertension Severe short stature Decreased glomerular filtration rate Xanthelasma Xanthomatosis Gout Pain Focal segmental glomerulosclerosis Hyperlipidemia Arthralgia Hematuria Lactic acidosis Splenomegaly Recurrent respiratory infections Osteopenia Abnormal bleeding Abdominal pain Protuberant abdomen Elevated hepatic transaminase Brachydactyly Motor delay Cognitive impairment Diarrhea

Rare Symptoms - Less than 30% cases


Neutropenia Pneumonia Thrombocytopenia Hepatosplenomegaly Kyphosis Increased serum ferritin Lymphadenopathy Growth hormone deficiency Eczema Pancreatitis Failure to thrive Neoplasm Nephropathy Doll-like facies Lipemia retinalis Enlarged kidney Hyperuricemia Nephrolithiasis Abnormal lung morphology Micrognathia Acidosis Hypogonadotrophic hypogonadism Epistaxis Interstitial pulmonary abnormality Short long bone Lymphopenia Scoliosis Intellectual disability Reduced number of teeth Truncal obesity High forehead Congestive heart failure Renal insufficiency Hypoplasia of penis Chronic pancreatitis Hepatoblastoma Prematurely aged appearance High pitched voice Pulmonary arterial hypertension Underdeveloped supraorbital ridges Abnormality of the elbow Microdontia Delayed eruption of teeth Aplasia/Hypoplasia involving the nose Hypoplastic nasal bridge Arrhythmia Metabolic acidosis Diabetes mellitus Depressed nasal ridge Hypercholesterolemia Abnormal facial shape Blue sclerae Cirrhosis Short toe Hypohidrosis Decreased testosterone in males Atlantoaxial dislocation Spasticity Strabismus Ulnar deviation of the wrist Ataxia Global developmental delay Small epiphyses of the phalanges of the hand Spatulate ribs Fragmented epiphyses Cervical myelopathy Premature osteoarthritis Fragmented, irregular epiphyses Cervical instability Cervical cord compression Flared femoral metaphysis Irregular carpal bones Limited hip extension Childhood onset short-limb short stature Ulnar metaphyseal irregularity Radial metaphyseal irregularity Lumbar spinal canal stenosis Spontaneous hematomas Hamartomatous polyposis Metaphyseal widening Limited elbow extension Flared metaphysis Bowing of the legs Spondyloepiphyseal dysplasia Metaphyseal irregularity Rickets Scaling skin Epiphyseal dysplasia Disproportionate short stature Hyperinsulinemia Genu varum Disproportionate short-limb short stature Abnormal vertebral morphology Rhizomelia Abnormality of epiphysis morphology Abnormality of the metaphysis Abnormality of the hip bone Metaphyseal dysplasia Carpal bone hypoplasia Enlarged joints Myelopathy Ulnar deviation of the hand Myopia Small epiphyses Irregular epiphyses Decreased serum testosterone level Intestinal polyposis Multiple epiphyseal dysplasia Abnormal joint morphology Beaking of vertebral bodies Delayed epiphyseal ossification Genu recurvatum Upper limb undergrowth Insulin-resistant diabetes mellitus Hypoplasia of the odontoid process Spinal canal stenosis Decreased serum estradiol Neurological speech impairment Fatigue Pericardial effusion Gingival bleeding Aseptic necrosis Exertional dyspnea Biliary tract obstruction Pathologic fracture Puberty and gonadal disorders Decreased beta-glucocerebrosidase protein and activity Bipolar affective disorder Petechiae Abnormality of coagulation Increased antibody level in blood Osteomyelitis Menorrhagia Leukocytosis Vascular calcification Erlenmeyer flask deformity of the femurs Abnormality of the thorax Abnormality of the spleen Fractures of the long bones Hypersplenism Esodeviation Periorbital edema Flank pain Generalized osteosclerosis Avascular necrosis of the capital femoral epiphysis Orthopnea Abnormal myocardium morphology Multiple myeloma Supranuclear gaze palsy Arthralgia of the hip Abnormal platelet function Vertebral compression fractures Edema of the lower limbs Clubbing Cholelithiasis Depressivity Abnormality of skin pigmentation Syncope Parkinsonism Generalized myoclonic seizures Abdominal distention Ascites Bruising susceptibility Abnormality of eye movement Abnormality of the cardiovascular system Abnormality of bone marrow cell morphology Corneal opacity Abnormality of the eye EEG abnormality Dyspnea Myoclonus Dementia Cyanosis Apraxia Increased susceptibility to fractures Cardiac valve calcification Reduced bone mineral density Leukopenia Lumbar hyperlordosis Oculomotor apraxia Hematological neoplasm Osteolysis Spastic paraparesis Pancytopenia Meningitis Increased bone mineral density Bone pain Hepatic fibrosis Anorexia Decreased body weight Progressive neurologic deterioration Type II diabetes mellitus Hepatitis Bilateral sensorineural hearing impairment Abnormality of metabolism/homeostasis Celiac disease Scleroderma Autoimmune hemolytic anemia Autoimmune thrombocytopenia Atopic dermatitis Recurrent ear infections Primary hypothyroidism Interstitial pneumonitis Recurrent bacterial infections Inflammation of the large intestine Oral ulcer Fever Optic atrophy Macrocephaly Pes cavus Abnormal intestine morphology Conjunctivitis Elevated erythrocyte sedimentation rate Restrictive ventilatory defect Abnormality of the voice Urticaria Abnormal palate morphology Cranial nerve paralysis Vasculitis Glaucoma Abnormality of the genital system Nephrotic syndrome Ichthyosis Skin rash Camptodactyly of finger Myalgia Colitis Type I diabetes mellitus Uveitis Impotence Abnormality of the skull Abnormality of the endocrine system Spider hemangioma Ketonemia Muscle weakness Cardiomyopathy Hypogonadism Abnormality of the liver Dilated cardiomyopathy Lethargy Infertility Amenorrhea Hyperpigmentation of the skin Azoospermia Arthropathy Inflammatory abnormality of the skin Immunodeficiency Decreased antibody level in blood Hemolytic anemia Leukemia Autoimmunity Respiratory tract infection Hypothyroidism Abnormality of the dentition Generalized hyperpigmentation Abnormality of endocrine pancreas physiology Elevated transferrin saturation Abnormality of the anterior pituitary Abnormality of iron homeostasis Increased serum iron Congenital hepatic fibrosis Progressive sensorineural hearing impairment Broad foot Limb undergrowth Gait disturbance Renal tubular acidosis Neoplasm of the liver Breathing dysregulation Fasting hypoglycemia Skeletal myopathy Enterocolitis Pyelonephritis Hypoglycemic seizures Microalbuminuria Intermittent diarrhea Chronic hepatitis Distal renal tubular acidosis Hepatocellular adenoma Hypocitraturia Abnormality of the skeletal system Decreased muscle mass Micromelia Waddling gait Short metacarpal Short foot Sensory neuropathy Short distal phalanx of finger Short palm Joint hyperflexibility Intellectual disability, mild Genu valgum Platyspondyly Hyperlordosis Joint laxity Skeletal dysplasia Alopecia Prolonged bleeding time Glomerulosclerosis Abnormality of the nose External genital hypoplasia Recurrent aphthous stomatitis Episcleritis Hernia of the abdominal wall Renal amyloidosis Hearing impairment Intrauterine growth retardation Respiratory distress Obesity Prominent forehead Deeply set eye Progressive visual loss Chronic diarrhea Increased body weight Keratitis Proportionate short stature Elevated alkaline phosphatase Full cheeks Hypercalciuria Chronic kidney disease Venous thrombosis Atherosclerosis Nephrocalcinosis Hypertriglyceridemia Hepatic failure Concave nasal ridge Carcinoma Myopathy Muscular hypotonia Lymphoid interstitial pneumonia Delayed menarche Immune dysregulation Horizontal supranuclear gaze palsy



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