Arthritis, and Growth hormone deficiency

Diseases related with Arthritis and Growth hormone deficiency

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


Top matches:

Medium match ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III; IGHD3


ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III; IGHD3 Is also known as hypogammaglobulinemia and isolated growth hormone deficiency, x-linked|ighd iii|fleisher syndrome|agammaglobulinemia and isolated growth hormone deficiency, x-linked|growth hormone deficiency with hypogammaglobulinemia

Related symptoms:

  • Short stature
  • Hearing impairment
  • Diarrhea
  • Immunodeficiency
  • Delayed skeletal maturation


SOURCES: OMIM ORPHANET MENDELIAN

More info about ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III; IGHD3

Low match BARTTER SYNDROME, TYPE 3; BARTS3


Bartter syndrome refers to a group of disorders that are unified by autosomal recessive transmission of impaired salt reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis, and hypercalciuria. Clinical disease results from defective renal reabsorption of sodium chloride in the thick ascending limb (TAL) of the Henle loop, where 30% of filtered salt is normally reabsorbed (Simon et al., 1997).Patients with antenatal (or neonatal) forms of Bartter syndrome (e.g., BARTS1, {601678}) typically present with premature birth associated with polyhydramnios and low birth weight and may develop life-threatening dehydration in the neonatal period. Patients with classic Bartter syndrome present later in life and may be sporadically asymptomatic or mildly symptomatic (summary by Simon et al., 1996 and Fremont and Chan, 2012). Genetic Heterogeneity of Bartter SyndromeAntenatal Bartter syndrome type 1 (OMIM ) is caused by loss-of-function mutations in the butmetanide-sensitive Na-K-2Cl cotransporter NKCC2 (SLC12A1 ). Antenatal Bartter syndrome type 2 (OMIM ) is caused by loss-of-function mutations in the ATP-sensitive potassium channel ROMK (KCNJ1 ). One form of neonatal Bartter syndrome with sensorineural deafness, Bartter syndrome type 4A (OMIM ), is caused by mutation in the BSND gene (OMIM ). Another form of neonatal Bartter syndrome with sensorineural deafness, Bartter syndrome type 4B (OMIM ), is caused by simultaneous mutation in both the CLCNKA (602024) and CLCNKB (602023) genes.Also see autosomal dominant hypocalcemia-1 with Bartter syndrome (OMIM ), which is sometimes referred to as Bartter syndrome type 5 (Fremont and Chan, 2012), caused by mutation in the CASR gene (OMIM ).See Gitelman syndrome (GTLMN ), which is often referred to as a mild variant of Bartter syndrome, caused by mutation in the thiazide-sensitive sodium-chloride cotransporter SLC12A3 (OMIM ).

BARTTER SYNDROME, TYPE 3; BARTS3 Is also known as bartter syndrome, classic

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Growth delay
  • Sensorineural hearing impairment


SOURCES: OMIM MENDELIAN

More info about BARTTER SYNDROME, TYPE 3; BARTS3

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

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

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 MELNICK-NEEDLES SYNDROME


Melnick-Needles syndrome (MNS) belongs to the otopalatodigital syndrome spectrum disorder and is associated with a short stature, facial dysmorphism, osseous abnormalities involving the majority of the axial and appendicular skeleton resulting in impaired speech and masticatory problems.

MELNICK-NEEDLES SYNDROME Is also known as osteodysplasty of melnick and needles|melnick-needles osteodysplasty

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Failure to thrive


SOURCES: OMIM ORPHANET MENDELIAN

More info about MELNICK-NEEDLES SYNDROME

Low match HUTCHINSON-GILFORD PROGERIA SYNDROME


Hutchinson-Gilford progeria syndrome is a rare, fatal, autosomal dominant and premature aging disease, beginning in childhood and characterized by growth reduction, failure to thrive, a typical facial appearance (prominent forehead, protuberant eyes, thin nose with a beaked tip, thin lips, micrognathia and protruding ears) and distinct dermatologic features (generalized alopecia, aged-looking skin, sclerotic and dimpled skin over the abdomen and extremities, prominent cutaneous vasculature, dyspigmentation, nail hypoplasia and loss of subcutaneous fat).

HUTCHINSON-GILFORD PROGERIA SYNDROME Is also known as progeria|hgps

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about HUTCHINSON-GILFORD PROGERIA SYNDROME

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

Low match ACROMEGALY


Acromegaly is an acquired disorder related to excessive production of growth hormone (GH) and characterized by progressive somatic disfigurement (mainly involving the face and extremities) and systemic manifestations.

Related symptoms:

  • Neoplasm
  • Hypertension
  • Fatigue
  • Frontal bossing
  • Abnormality of the dentition


SOURCES: ORPHANET MENDELIAN

More info about ACROMEGALY

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

Low match HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 1; PHOAR1


Primary hypertrophic osteoarthropathy is a familial disorder characterized by digital clubbing and osteoarthropathy, with variable features of pachydermia, delayed closure of the fontanels, and congenital heart disease. Secondary hypertrophic osteoarthropathy, or pulmonary hypertrophic osteoarthropathy, is a different disorder characterized by digital clubbing secondary to acquired diseases, most commonly intrathoracic neoplasm (Uppal et al., 2008).Touraine et al. (1935) recognized pachydermoperiostosis as a familial disorder with 3 clinical presentations or forms: a complete form characterized by periostosis and pachydermia; an incomplete form with bone changes but without pachydermia; and a 'forme fruste' with pachydermia and minimal skeletal changes. Genetic HeterogeneityPHOAR2 (OMIM ) is caused by mutation in the SLCO2A1 gene (OMIM ) on chromosome 3q22.1-q22.2.Families with an autosomal dominant form of primary hypertrophic osteoarthropathy have also been reported (PHOAD ).

HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 1; PHOAR1 Is also known as pho, autosomal recessive|pachydermoperiostosis, autosomal recessive|pdp, autosomal recessive|touraine-solente-gole syndrome

Related symptoms:

  • Growth delay
  • Neoplasm
  • Cleft palate
  • Pain
  • Ptosis


SOURCES: OMIM MENDELIAN

More info about HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 1; PHOAR1

Top 5 symptoms//phenotypes associated to Arthritis and Growth hormone deficiency

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Growth delay Common - Between 50% and 80% cases
Hearing impairment Common - Between 50% and 80% cases
Pain Common - Between 50% and 80% cases
Delayed puberty Uncommon - Between 30% and 50% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

Patients with Arthritis and Growth hormone deficiency. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Hypertension Osteoarthritis Micrognathia Abnormality of the skeletal system Delayed skeletal maturation Intellectual disability Failure to thrive Neoplasm Scoliosis Kyphosis Macrotia Hypogonadotrophic hypogonadism Motor delay Osteoporosis Osteolytic defects of the phalanges of the hand Osteopenia Arthralgia Genu valgum Cardiomyopathy Abnormal facial shape Joint hyperflexibility Pneumonia Sensorineural hearing impairment Delayed eruption of teeth Pectus excavatum Prominent forehead Diabetes mellitus

Rare Symptoms - Less than 30% cases


Stroke Dilated cardiomyopathy Congestive heart failure Joint laxity Skeletal dysplasia Alopecia Respiratory tract infection Hypohidrosis Gait disturbance Hyperhidrosis Full cheeks Narrow chest Coarse facial features Malar flattening Hypogonadism Hypercholesterolemia Mandibular prognathia Short long bone Reduced number of teeth Thickened skin High pitched voice Hypertrophic cardiomyopathy Retrognathia Flexion contracture Abnormality of the dentition Hoarse voice Decreased testosterone in males Tapered finger Conductive hearing impairment Pes planus Disproportionate tall stature Coxa valga Mitral valve prolapse Aplasia/Hypoplasia of the earlobes Hypertelorism Strabismus Cleft palate Frontal bossing Tall stature Abnormal heart morphology Proptosis Decreased serum estradiol Short clavicles Macrocephaly Hyperinsulinemia Short distal phalanx of finger Kyphoscoliosis Short metacarpal Cataract Lumbar hyperlordosis Acne Hypoplastic facial bones Metaphyseal widening Enlarged joints Synophrys Flared metaphysis Limited elbow extension Abnormality of the hip bone Spinal canal stenosis Small face Misalignment of teeth Abnormality of the metaphysis Truncal obesity Hip dislocation Seizures Rickets Hyperphosphatemia Ptosis High palate Chest pain Edema Acanthosis nigricans Impotence Convex nasal ridge Limitation of joint mobility Small for gestational age Intracranial hemorrhage Arthropathy Infertility Hip pain Growth hormone excess High forehead Diarrhea Progressive visual loss Severe short stature Obesity Recurrent infections Generalized hyperpigmentation Respiratory distress Intrauterine growth retardation Brachydactyly Joint swelling Narrow nasal tip Microcornea Neutropenia Prominent scalp veins Single transverse palmar crease Retinal detachment Reticulated skin pigmentation Highly arched eyebrow Iris coloboma Craniofacial disproportion Small hand High, narrow palate Old-aged sensorineural hearing impairment Bilateral coxa valga Thick vermilion border Bird-like facies Retinal dystrophy Hypoplasia of the maxilla Open mouth Mitral valve calcification Premature coronary artery atherosclerosis Gingival overgrowth Thin bony cortex Prolonged prothrombin time Carcinoid tumor Arteriosclerosis Narrow nasal ridge Aplastic clavicle Exotropia Absence of subcutaneous fat Thin nail Long eyelashes Clumsiness Prominent nose Sinus tachycardia Corneal arcus Intermittent claudication Widely patent fontanelles and sutures Parietal bossing High myopia Decreased fetal movement Narrow forehead Pigmentary retinopathy Otitis media Aciduria Thick eyebrow Cerebellar hypoplasia Joint hypermobility Dilatation Visual impairment Depressed nasal bridge Myopia Optic atrophy Downslanted palpebral fissures Ventricular septal defect Blindness Behavioral abnormality Feeding difficulties in infancy Microphthalmia Thrombocytopenia Muscular hypotonia Hernia Intellectual disability, moderate Neonatal hypotonia Visual loss Thin upper lip vermilion Gastroesophageal reflux Hypothyroidism Reduced visual acuity Clinodactyly of the 5th finger Rod-cone dystrophy Cryptorchidism Postnatal growth retardation Abnormality of skin pigmentation Finger syndactyly Carotid artery stenosis Absence of pubertal development Retinal degeneration Arachnodactyly Astigmatism Insulin-resistant diabetes mellitus at puberty Smooth philtrum Severe global developmental delay Neurological speech impairment Regional abnormality of skin Prominent nasal bridge Nystagmus Arteriosclerosis of small cerebral arteries Tapering pointed ends of distal finger phalanges Short philtrum Nyctalopia Retinopathy Wide mouth Global developmental delay Paralysis Protruding ear Generalized hypotonia Microcephaly Abnormal trabecular bone morphology Gingivitis Abnormality of retinal pigmentation Long penis Arrhythmia Splenomegaly Hepatomegaly Muscle weakness Cortical diaphyseal thickening of the upper limbs Abnormality of reproductive system physiology Broad jaw Macrodactyly Dysmenorrhea Pituitary prolactin cell adenoma Deep plantar creases Galactorrhea Hypersomnia Paraganglioma Pheochromocytoma Elevated hepatic transaminase Anterior hypopituitarism Deep palmar crease Neoplasm of the endocrine system Dysuria Abnormality of the endocrine system Abnormal toenail morphology Broad foot Palpebral edema Large hands Growth abnormality Sleep apnea Cerebral palsy Widely spaced teeth Abnormality of the fingernails Abdominal pain Abnormality of the liver Mitral regurgitation Large fontanelles Periostosis Eczematoid dermatitis Wide cranial sutures Long clavicles Seborrheic dermatitis Clubbing of fingers Flushing Heart block Thickened calvaria Clubbing Patent foramen ovale Redundant skin Palmoplantar hyperkeratosis Wormian bones Skin rash Lethargy Erythema Patent ductus arteriosus Abnormality of endocrine pancreas physiology Elevated transferrin saturation Abnormality of the anterior pituitary Abnormality of iron homeostasis Increased serum iron Congenital hepatic fibrosis Increased serum ferritin Portal hypertension Azoospermia Hyperpigmentation of the skin Amenorrhea Cirrhosis Generalized hirsutism Thick lower lip vermilion Progressive microcephaly Abnormality of dental morphology Furrowed tongue Deep venous thrombosis Facial hypotonia Vocal cord paralysis Microglossia Posterior subcapsular cataract Hiatus hernia Peripheral visual field loss Thoracic scoliosis Subcapsular cataract Weak cry Celiac disease Narrow nasal bridge Cerebral hemorrhage Constriction of peripheral visual field Bone spicule pigmentation of the retina Cubitus valgus Rheumatoid arthritis Failure to thrive in infancy Radioulnar synostosis Precocious puberty Short metatarsal Laryngomalacia Recurrent skin infections Venous thrombosis Leukopenia Sandal gap Intellectual disability, progressive Low anterior hairline Preauricular skin tag Macular edema Abnormality of the larynx Migraine Thick corpus callosum Macroglossia Wide nose Long face Paresthesia Broad forehead Anxiety Depressivity Fatigue Slender toe Cat cry Hypoplastic philtrum Childhood-onset truncal obesity Macrodontia of permanent maxillary central incisor Prominent eyelashes High-pitched cry Recurrent aphthous stomatitis Congenital neutropenia Tapetoretinal degeneration Thick hair Iris atrophy Macrodontia Bull's eye maculopathy Granulocytopenia Hyperplasia of the maxilla Chorioretinal dysplasia Laryngeal stenosis Chorioretinal dystrophy Cutis gyrata of scalp Hemeralopia Narrow palm Narrow philtrum Precocious atherosclerosis Nail dysplasia Generalized osteoporosis Immune dysregulation Limb undergrowth Waddling gait Short foot Sensory neuropathy Short palm Micromelia Platyspondyly Hyperlordosis Intellectual disability, mild Lymphoid interstitial pneumonia Hypoplastic nasal bridge Aplasia/Hypoplasia involving the nose Delayed menarche Concave nasal ridge Type II diabetes mellitus Abnormality of the elbow Underdeveloped supraorbital ridges Proportionate short stature Prematurely aged appearance External genital hypoplasia Keratitis Increased body weight Lymphopenia Short toe Chronic diarrhea Abnormal lung morphology Depressed nasal ridge Blue sclerae Bilateral sensorineural hearing impairment Abnormality of epiphysis morphology Eczema Genu recurvatum Ulnar deviation of the wrist Atlantoaxial dislocation Hamartomatous polyposis Carpal bone hypoplasia Myelopathy Ulnar deviation of the hand Small epiphyses Irregular epiphyses Decreased serum testosterone level Intestinal polyposis Multiple epiphyseal dysplasia Beaking of vertebral bodies Delayed epiphyseal ossification Upper limb undergrowth Rhizomelia Insulin-resistant diabetes mellitus Hypoplasia of the odontoid process Abnormal joint morphology Metaphyseal dysplasia Disproportionate short stature Bowing of the legs Spondyloepiphyseal dysplasia Metaphyseal irregularity Scaling skin Epiphyseal dysplasia Genu varum Disproportionate short-limb short stature Abnormal vertebral morphology Hypoplasia of penis Microdontia Premature osteoarthritis Prostatitis Hypocalcemia Anorexia Dehydration Hypotension Premature birth Generalized muscle weakness Muscle cramps Tachycardia Polyhydramnios Vomiting Enteroviral hepatitis Recurrent enteroviral infections Enteroviral dermatomyositis syndrome Epididymitis Hypokalemia Septic arthritis Panhypogammaglobulinemia Pyoderma Recurrent sinopulmonary infections Chronic otitis media Encephalitis Conjunctivitis Recurrent bacterial infections Meningitis Sinusitis Recurrent urinary tract infections Decreased antibody level in blood Immunodeficiency Nephrocalcinosis Hypercalciuria Deeply set eye Hypokalemic metabolic alkalosis Hypoglycemia Cognitive impairment Abnormality of prostaglandin metabolism Impaired reabsorption of chloride Secondary hyperaldosteronism Abnormal sclera morphology Hyperchloriduria Hyperactive renin-angiotensin system Renal potassium wasting Increased urinary potassium Azotemia Abnormal choroid morphology Hypokalemic alkalosis Hypocalciuria Hypercalcemia Respiratory arrest Increased circulating renin level Metabolic alkalosis Abnormality of the retinal vasculature Chondrocalcinosis Alkalosis Renal salt wasting Hypomagnesemia Hyperaldosteronism Polycythemia Hyperkalemia Polyuria Glomerulonephritis Cervical myelopathy Cervical instability Lack of skin elasticity Abnormality of the cardiovascular system Increased bone mineral density Aspiration Aortic valve stenosis Sparse and thin eyebrow Insulin resistance Dental crowding Left ventricular hypertrophy Decreased body weight Broad-based gait Thin skin Hypertriglyceridemia Myocardial infarction Cardiomegaly Cyanosis Aminoaciduria Hypodontia Hepatic steatosis Thin vermilion border Carious teeth Hypotrichosis Hypermetropia Microtia Sparse hair Joint stiffness Carcinoma Dyspnea Narrow mouth Dementia Hypergonadotropic hypogonadism Osteolysis Short nose Thin ribs Angina pectoris Prominent superficial veins Ovoid vertebral bodies Down-sloping shoulders Fragile nails Transient ischemic attack Absent eyelashes Abnormal EKG Thrombocytosis Alopecia of scalp Renal cell carcinoma Hypoplastic nipples Keratoconjunctivitis sicca Scleroderma Atherosclerosis Lipoatrophy Exertional dyspnea Prolonged QT interval Premature graying of hair Multiple joint contractures Heart murmur Abnormality of the thorax Premature ovarian insufficiency Lipodystrophy Nasal speech Dermal atrophy Relative macrocephaly Hyperlipidemia Midface retrusion Skeletal muscle atrophy Cervical cord compression Recurrent respiratory infections Recurrent otitis media Renal hypoplasia Pulmonary arterial hypertension Abnormality of the ribs Oligohydramnios Tetralogy of Fallot Intestinal malrotation Vesicoureteral reflux Nevus Facial asymmetry Pulmonic stenosis Abnormal cardiac septum morphology Hydronephrosis Atrial septal defect Bowing of the long bones Respiratory insufficiency Talipes equinovarus Small epiphyses of the phalanges of the hand Spatulate ribs Fragmented, irregular epiphyses Ulnar metaphyseal irregularity Radial metaphyseal irregularity Fragmented epiphyses Lumbar spinal canal stenosis Childhood onset short-limb short stature Limited hip extension Irregular carpal bones Flared femoral metaphysis Omphalocele Wide anterior fontanel Anterior concavity of thoracic vertebrae Craniofacial hyperostosis Obtuse angle of mandible Ureteral obstruction Anisospondyly Abnormality of the pubic bone Frontal hirsutism Megacystis Urethral atresia Long neck Prune belly Ureteral stenosis Tricuspid valve prolapse Sclerosis of skull base Complete atrioventricular canal defect Abnormal cortical bone morphology Coarse hair Hypoplastic pelvis Hypoplastic scapulae Cone-shaped epiphyses of the phalanges of the hand Short humerus Atrioventricular canal defect Tibial bowing Long fingers Short thorax Delayed cranial suture closure Thoracic hypoplasia Ectopic kidney Melanocytic nevus Prominent supraorbital ridges Subperiosteal bone formation



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

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more