Autoimmunity, and Joint laxity

Diseases related with Autoimmunity and Joint laxity

In the following list you will find some of the most common rare diseases related to Autoimmunity and Joint laxity that can help you solving undiagnosed cases.


Top matches:

Medium match EHLERS-DANLOS SYNDROME, PERIODONTITIS TYPE


Ehlers-Danlos syndromes (EDS) form a heterogeneous group of hereditary connective tissue diseases characterized by joint hyperlaxity, cutaneous hyperelasticity and tissue fragility.

EHLERS-DANLOS SYNDROME, PERIODONTITIS TYPE Is also known as ehlers-danlos syndrome, periodontitis type|ehlers-danlos syndrome, periodontosis type|ehlers-danlos syndrome, type viii|ehlers-danlos syndrome type 8|eds viii|eds8

Related symptoms:

  • Short stature
  • Scoliosis
  • Neoplasm
  • Micrognathia
  • Pain


SOURCES: ORPHANET OMIM MENDELIAN

More info about EHLERS-DANLOS SYNDROME, PERIODONTITIS TYPE

Medium match PRESYNAPTIC CONGENITAL MYASTHENIC SYNDROMES


Myasthenia gravis is a disease that causes weakness in the muscles under your control. It happens because of a problem in communication between your nerves and muscles. Myasthenia gravis is an autoimmune disease. Your body's own immune system makes antibodies that block or change some of the nerve signals to your muscles. This makes your muscles weaker. Common symptoms are trouble with eye and eyelid movement, facial expression and swallowing. But it can also affect other muscles. The weakness gets worse with activity, and better with rest. There are medicines to help improve nerve-to-muscle messages and make muscles stronger. With treatment, the muscle weakness often gets much better. Other drugs keep your body from making so many abnormal antibodies. There are also treatments which filter abnormal antibodies from the blood or add healthy antibodies from donated blood. Sometimes surgery to take out the thymus gland helps. For some people, myasthenia gravis can go into remission and they do not need medicines. The remission can be temporary or permanent. If you have myasthenia gravis, it is important to follow your treatment plan. If you do, you can expect your life to be normal or close to it. NIH: National Institute of Neurological Disorders and Stroke

Related symptoms:

  • Intellectual disability
  • Seizures
  • Ataxia
  • Nystagmus
  • Sensorineural hearing impairment


SOURCES: ORPHANET MENDELIAN

More info about PRESYNAPTIC CONGENITAL MYASTHENIC SYNDROMES

Medium match KABUKI SYNDROME 1; KABUK1


Kabuki syndrome is a congenital mental retardation syndrome with additional features, including postnatal dwarfism, a peculiar facies characterized by long palpebral fissures with eversion of the lateral third of the lower eyelids (reminiscent of the make-up of actors of Kabuki, a Japanese traditional theatrical form), a broad and depressed nasal tip, large prominent earlobes, a cleft or high-arched palate, scoliosis, short fifth finger, persistence of fingerpads, radiographic abnormalities of the vertebrae, hands, and hip joints, and recurrent otitis media in infancy (Niikawa et al., 1981). Genetic HeterogeneityKabuki syndrome-2 (OMIM ) is caused by mutation in the KDM6A gene (OMIM ) on chromosome Xp11.3.

KABUKI SYNDROME 1; KABUK1 Is also known as kabuki syndrome|kabuki make-up syndrome|kms|niikawa-kuroki syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about KABUKI SYNDROME 1; KABUK1

Mendelian

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

Learn more

Other less relevant matches:

Low match METAPHYSEAL DYSPLASIA WITHOUT HYPOTRICHOSIS; MDWH


METAPHYSEAL DYSPLASIA WITHOUT HYPOTRICHOSIS; MDWH Is also known as cartilage-hair hypoplasia-like skeletal dysplasia without hypotrichosis or immunodeficiency|chhv|cartilage-hair hypoplasia variant, skeletal manifestations only

Related symptoms:

  • Immunodeficiency
  • Severe short stature
  • Joint laxity
  • Hypotrichosis
  • Micromelia


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about METAPHYSEAL DYSPLASIA WITHOUT HYPOTRICHOSIS; MDWH

Low match HYPERTRYPTOPHANEMIA


Familial hypertryptophanemia is characterized by intellectual deficit associated with behavioral problems: periodic mood swings, exaggerated affective responses and abnormal sexual behavior. Twelve cases have been reported so far. Congenital abnormalities in tryptophan metabolism appear to be responsible for the tryptophanemia and tryptophanuria.

HYPERTRYPTOPHANEMIA Is also known as hypertryptophanemia, familial

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hypertelorism
  • Strabismus
  • Sensorineural hearing impairment


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about HYPERTRYPTOPHANEMIA

Low match PEROXISOME BIOGENESIS DISORDER 5B; PBD5B


The overlapping phenotypes of neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD) represent the milder manifestations of the Zellweger syndrome spectrum (ZSS) of peroxisome biogenesis disorders. The clinical course of patients with the NALD and IRD presentation is variable and may include developmental delay, hypotonia, liver dysfunction, sensorineural hearing loss, retinal dystrophy, and visual impairment. Children with the NALD presentation may reach their teens, and those with the IRD presentation may reach adulthood (summary by Waterham and Ebberink, 2012).For a complete phenotypic description and a discussion of genetic heterogeneity of PBD(NALD/IRD), see {601539}.Individuals with mutations in the PEX2 gene have cells of complementation group 5 (CG5, equivalent to CG10 and CGF). For information on the history of PBD complementation groups, see {214100}.

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Ataxia
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 5B; PBD5B

Low match EHLERS-DANLOS SYNDROME TYPE 2


The Ehlers-Danlos syndromes (EDS) are a group of heritable connective tissue disorders that share the common features of skin hyperextensibility, articular hypermobility, and tissue fragility. The main features of classic Ehlers-Danlos syndrome are loose-jointedness and fragile, bruisable skin that heals with peculiar 'cigarette-paper' scars (Beighton, 1993). There are both severe and mild forms of classic EDS, previously designated EDS I and EDS II, respectively.For a general phenotypic description and a discussion of genetic heterogeneity of classic EDS, see {130000}.

EHLERS-DANLOS SYNDROME TYPE 2 Is also known as eds ii|eds2, formerly|eds ii, formerly|ehlers danlos syndrome, mitis type, formerly|ehlers danlos syndrome, mild classic type, formerly|ehlers-danlos syndrome, type ii, formerly

Related symptoms:

  • Hypertension
  • Hernia
  • Pectus excavatum
  • Inguinal hernia
  • Gastroesophageal reflux


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about EHLERS-DANLOS SYNDROME TYPE 2

Low match PROXIMAL SPINAL MUSCULAR ATROPHY TYPE 1


Proximal spinal muscular atrophy type 1 (SMA1) is a severe infantile form of proximal spinal muscular atrophy (see this term) characterized by severe and progressive muscle weakness and hypotonia resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei.

PROXIMAL SPINAL MUSCULAR ATROPHY TYPE 1 Is also known as muscular atrophy, infantile|sma type 1|sma-i|infantile spinal muscular atrophy|sma, infantile acute form|sma1|werdnig-hoffmann disease|sma i|sma type i

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Flexion contracture


SOURCES: OMIM ORPHANET MENDELIAN

More info about PROXIMAL SPINAL MUSCULAR ATROPHY TYPE 1

Low match MYASTHENIC SYNDROME, CONGENITAL, 19; CMS19


Congenital myasthenic syndrome-19 is an autosomal recessive disorder resulting from a defect in the neuromuscular junction, causing generalized muscle weakness, exercise intolerance, and respiratory insufficiency. Patients present with hypotonia, feeding difficulties, and respiratory problems soon after birth, but the severity of the weakness and disease course is variable (summary by Logan et al., 2015).For a discussion of genetic heterogeneity of CMS, see CMS1A (OMIM ).

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Micrognathia
  • Muscle weakness
  • Ptosis


SOURCES: OMIM MENDELIAN

More info about MYASTHENIC SYNDROME, CONGENITAL, 19; CMS19

Low match MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 4; MMDS4


MMDS4 is an autosomal recessive neurodegenerative disorder that usually results in death in early childhood. Affected individuals have normal development for the first months of life, but thereafter show progressive loss of motor and social skills with hypotonia, spasticity, and nystagmus. Patients regress to a vegetative state with lack of eye contact and speech, and poor feeding. Most patients have optic atrophy, and some may develop seizures. Brain imaging shows diffuse leukodystrophy in the subcortical region, brainstem, cerebellum, and spinal cord. Laboratory studies tend to show increased CSF glycine and decreased activity of mitochondrial complex II; there may be additional biochemical evidence of mitochondrial dysfunction (summary by Alaimo et al., 2018).For a general description and a discussion of genetic heterogeneity of multiple mitochondrial dysfunctions syndrome, see MMDS1 (OMIM ).

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Nystagmus
  • Spasticity
  • Feeding difficulties


SOURCES: OMIM ORPHANET MENDELIAN

More info about MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 4; MMDS4

Top 5 symptoms//phenotypes associated to Autoimmunity and Joint laxity

Symptoms // Phenotype % cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Hernia Uncommon - Between 30% and 50% cases
Flexion contracture Uncommon - Between 30% and 50% cases
Pes planus Uncommon - Between 30% and 50% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

Patients with Autoimmunity and Joint laxity. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Feeding difficulties Ptosis Pes cavus Areflexia High palate Seizures Sensorineural hearing impairment Pectus carinatum Nystagmus Visual impairment Intellectual disability Scoliosis Respiratory insufficiency Gastroesophageal reflux Generalized joint laxity Micrognathia Umbilical hernia Abnormality of the skeletal system

Rare Symptoms - Less than 30% cases


Depressivity Mitral stenosis Respiratory failure Hearing impairment Cigarette-paper scars Muscle weakness Abnormal cardiac septum morphology Myopia Ataxia Ventricular septal defect Atrial septal defect Immunodeficiency Low-set ears Severe short stature Poor suck Motor delay Abnormal heart morphology Hyporeflexia Recurrent respiratory infections Spinal rigidity Paralysis Bulbar palsy Proximal muscle weakness Pneumonia Muscular hypotonia of the trunk Intellectual disability, moderate Decreased fetal movement Congenital hip dislocation Poor head control Generalized muscle weakness Short stature Strabismus Abnormality of the dentition Recurrent lower respiratory tract infections Overweight Hyperextensible skin Dermal atrophy Inguinal hernia Congenital diaphragmatic hernia Recurrent infections Atrophic scars Arthralgia Dilatation Thin skin Blue sclerae Microdontia Joint hyperflexibility Soft skin Bruising susceptibility Joint hypermobility Congenital mitral stenosis Hypotrichosis Cerebellar vermis atrophy Anoperineal fistula Nocturnal lagophthalmos Transposition of the great arteries Autoimmune hemolytic anemia Congenital hypothyroidism Vertical orbital dystopia Short metacarpal Micromelia Abnormality of the immune system Right bundle branch block Celiac disease Long palpebral fissure Hypertelorism Metaphyseal cupping of metacarpals Cone-shaped epiphyses of the phalanges of the hand Abnormality of the vertebral column Severe hearing impairment Metaphyseal dysplasia Metaphyseal irregularity Genu varum Abnormality of pelvic girdle bone morphology Short long bone Abnormality of the hair Short nasal septum Pilonidal sinus Ureteropelvic junction obstruction Thyroiditis Bronchomalacia Short 5th finger Retinal coloboma Optic nerve coloboma Recurrent aspiration pneumonia Prominent fingertip pads Biliary atresia Cholangitis Short columella Small face Broad philtrum Trichorrhexis nodosa Diaphragmatic eventration Anterior plagiocephaly Recurrent ear infections Depressed nasal tip Patellar dislocation Eversion of lateral third of lower eyelids Common atrium Premature thelarche Prominent eyelashes Sclerosing cholangitis Single ventricle Crossed fused renal ectopia Anorectal anomaly IgA deficiency Vitiligo Autoimmune thrombocytopenia Vertebral clefting Epibulbar dermoid Anal stenosis Hashimoto thyroiditis Scaphocephaly Abnormality of the middle ear Liver abscess Retinal dystrophy Fever Recurrent pneumonia Degeneration of anterior horn cells Decreased number of large peripheral myelinated nerve fibers Tongue fasciculations Proximal amyotrophy EMG: neuropathic changes Axonal degeneration Spinal muscular atrophy Tetraparesis Dyspnea Respiratory distress Skeletal muscle atrophy Abnormal oral cavity morphology Femoral hernia Bladder diverticulum Peritonitis Varicose veins Aortic dissection Proximal muscle weakness in lower limbs Retrognathia Recurrent urinary tract infections Absent speech Short 4th metacarpal Abnormality of the periventricular white matter Abnormality of mitochondrial metabolism Leukodystrophy Toe syndactyly Abnormality of the cerebral white matter Developmental regression Syndactyly Rigidity Optic atrophy Hyperreflexia Spasticity Chronic lung disease Centrally nucleated skeletal muscle fibers Exercise intolerance Abnormal lung morphology Facial palsy Aortic aneurysm Retinal detachment Behavioral abnormality Stuttering Cerebellar atrophy Gait disturbance Tremor Dysarthria Head-banging Tryptophanuria Hypersexuality Mood swings Gait ataxia Limited elbow extension Emotional lability Adducted thumb Interphalangeal joint contracture of finger High myopia Skin rash Camptodactyly of finger Aggressive behavior Rod-cone dystrophy Neonatal hypotonia Pectus excavatum Oculomotor apraxia Hypertension Elevated levels of phytanic acid Very long chain fatty acid accumulation Bronchiolitis Slow saccadic eye movements Difficulty running Gaze-evoked nystagmus Decreased liver function Dysmetria Broad-based gait Apraxia Progressive cerebellar ataxia Abnormal cerebellum morphology Polyneuropathy Hydroureter Falls Unsteady gait Bundle branch block Wide nose Preauricular pit Long face Microretrognathia Diplopia Cyanosis Waddling gait Esotropia Distal amyotrophy Ophthalmoplegia Easy fatigability Arthrogryposis multiplex congenita Difficulty walking Kyphoscoliosis Polyhydramnios Dysphagia Alveolar bone loss around teeth Atrophy of alveolar ridges EMG: myopathic abnormalities Dysphonia Intestinal perforation Distal lower limb muscle weakness Staring gaze EEG with polyspike wave complexes Central sleep apnea Spinal deformities Respiratory arrest Muscle fiber atrophy Motor polyneuropathy Limb-girdle muscle weakness Nasal speech Obstructive sleep apnea Central hypotonia Neck muscle weakness Fatigable weakness Weak cry Toe walking Stridor Severe periodontitis Gingival recession Nasal regurgitation Arachnodactyly Vasculitis Hoarse voice Gingival overgrowth Tall stature Mitral regurgitation Osteoarthritis Fine hair Carious teeth Osteolysis Scarring Erythema Arthritis Osteoporosis Edema Pain Neoplasm Joint dislocation Cutis laxa Premature loss of permanent teeth Gingival bleeding Palmoplantar cutis laxa Poor wound healing Premature loss of primary teeth Chronic pain Periodontitis Gingivitis Subarachnoid hemorrhage Premature loss of teeth Urticaria Striae distensae Abnormal joint morphology Fragile skin Skin vesicle Long nose Agenesis of permanent teeth Hypermelanotic macule Sudden episodic apnea Apneic episodes precipitated by illness, fatigue, stress Bilateral cryptorchidism Single transverse palmar crease Growth hormone deficiency Decreased antibody level in blood Dental malocclusion Prominent nose Intestinal malrotation Hypodontia Highly arched eyebrow Coarctation of aorta Hemolytic anemia Hirsutism Polymicrogyria Astigmatism Anal atresia Malabsorption Coloboma Otitis media Small nail Respiratory tract infection Hyperbilirubinemia Cupped ear Precocious puberty Brittle hair Failure to thrive in infancy Abnormality of the urinary system Abnormal dermatoglyphics Purpura Horseshoe kidney Recurrent otitis media Increased body weight Sparse and thin eyebrow Abnormal vertebral morphology Cafe-au-lait spot Long eyelashes Renal dysplasia Heterotopia Protruding ear Abnormality of the pinna Choking episodes Failure to thrive Brachydactyly Epicanthus Anemia Cryptorchidism Cleft palate Muscular hypotonia Abnormal facial shape Growth delay Diarrhea Microcephaly Acetylcholine receptor antibody positivity EMG: impaired neuromuscular transmission Episodic respiratory distress Frontalis muscle weakness Intermittent episodes of respiratory insufficiency due to muscle weakness Narrow jaw Wide nasal bridge Intellectual disability, mild Postnatal growth retardation Hypothyroidism Feeding difficulties in infancy Abnormality of the kidney Anxiety Hydronephrosis Hypoglycemia Jaundice Macrotia Micropenis Kyphosis Posteriorly rotated ears Visual loss Patent ductus arteriosus Clinodactyly Hypospadias Obesity Renal insufficiency Vegetative state



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Rod-cone dystrophy and Microphthalmia, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more