Muscle weakness, and Ulcerative colitis

Diseases related with Muscle weakness and Ulcerative colitis

In the following list you will find some of the most common rare diseases related to Muscle weakness and Ulcerative colitis that can help you solving undiagnosed cases.

Top matches:

BASAL CELL NEVUS SYNDROME; BCNS Is also known as nevoid basal cell carcinoma syndrome|gorlin-goltz syndrome|gorlin syndrome|nbccs|multiple basal cell nevi, odontogenic keratocysts, and skeletal anomalies

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Microcephaly
  • Scoliosis
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about BASAL CELL NEVUS SYNDROME; BCNS

Autosomal recessive cerebellar ataxia due to STUB1 deficiency is a rare hereditary ataxia characterized by progressive truncal and limb ataxia resulting in gait instability. Dysarthria, dysphagia, nystagmus, spasticity of the lower limbs, mild peripheral sensory neuropathy, cognitive impairment and accelerated ageing have also been associated.

AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA DUE TO STUB1 DEFICIENCY Is also known as scar16|spinocerebellar ataxia autosomal recessive type 16

Related symptoms:

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Ataxia
  • Nystagmus


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA DUE TO STUB1 DEFICIENCY

ACETYL-COA ACETYLTRANSFERASE-2 DEFICIENCY; ACAT2D Is also known as acat2 deficiency

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Fever
  • Chorea
  • Increased serum lactate


SOURCES: OMIM MENDELIAN

More info about ACETYL-COA ACETYLTRANSFERASE-2 DEFICIENCY; ACAT2D

Other less relevant matches:

HERMANSKY-PUDLAK SYNDROME TYPE 7 Is also known as hps7

Related symptoms:

  • Ataxia
  • Nystagmus
  • Muscle weakness
  • Respiratory distress
  • Reduced visual acuity


SOURCES: ORPHANET OMIM MENDELIAN

More info about HERMANSKY-PUDLAK SYNDROME TYPE 7

Common variable immunodeficiency-8 with autoimmunity is an autosomal recessive disorder of immune dysregulation. Affected individuals have early childhood onset of recurrent infections, particularly respiratory infections, and also develop variable autoimmune disorders, including idiopathic thrombocytopenic purpura, autoimmune hemolytic anemia, and inflammatory bowel disease. The presentation and phenotype are highly variable, even within families (summary by Lopez-Herrera et al., 2012 and Alangari et al., 2012). Immunologic findings are also variable and may include decreased B cells, hypogammaglobulinemia, and deficiency of CD4+ T regulatory (Treg) cells (Charbonnier et al., 2015).For a general description and a discussion of genetic heterogeneity of common variable immunodeficiency, see CVID1 (OMIM ).

COMBINED IMMUNODEFICIENCY DUE TO LRBA DEFICIENCY Is also known as cid due to lrba deficiency

Related symptoms:

  • Growth delay
  • Neoplasm
  • Failure to thrive
  • Anemia
  • Diarrhea


SOURCES: OMIM ORPHANET MENDELIAN

More info about COMBINED IMMUNODEFICIENCY DUE TO LRBA DEFICIENCY

Inflammatory bowel disease is a chronic inflammatory condition of the gastrointestinal tract (summary by Mohanan et al., 2018).For a general description and a discussion of genetic heterogeneity of inflammatory bowel disease, including Crohn disease (CD) and ulcerative colitis (UC), see IBD1 (OMIM ).

Related symptoms:

  • Inflammation of the large intestine
  • Colitis
  • Ulcerative colitis


SOURCES: OMIM MENDELIAN

More info about INFLAMMATORY BOWEL DISEASE 29; IBD29

Related symptoms:

  • Arthritis
  • Systemic lupus erythematosus
  • Rheumatoid arthritis
  • Colitis
  • Ulcerative colitis


SOURCES: OMIM MENDELIAN

More info about AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 6; AIS6

Related symptoms:

  • Inflammation of the large intestine


SOURCES: OMIM MESH MENDELIAN

More info about INFLAMMATORY BOWEL DISEASE 13; IBD13

Individuals with Lan(-) blood group lack the Lan antigen on their red blood cells. These individuals may have anti-Lan antibodies in their serum, which can cause transfusion reactions or hemolytic disease of the fetus or newborn. The Lan(-) blood group is only clinically significant in transfusion settings or during pregnancy; otherwise Lan(-) individuals have no clinical features (summary by Helias et al., 2012).

Related symptoms:

  • Anemia
  • Jaundice
  • Hemolytic anemia
  • Colitis
  • Ulcerative colitis


SOURCES: OMIM MENDELIAN

More info about BLOOD GROUP, LANGEREIS SYSTEM; LAN

Top 5 symptoms//phenotypes associated to Muscle weakness and Ulcerative colitis

Symptoms // Phenotype % cases
Colitis Common - Between 50% and 80% cases
Inflammation of the large intestine Uncommon - Between 30% and 50% cases
Ataxia Uncommon - Between 30% and 50% cases
Diabetes mellitus Rare - less than 30% cases
Dysarthria Rare - less than 30% cases

Other less frequent symptoms

Patients with Muscle weakness and Ulcerative colitis. may also develop some of the following symptoms:

Rare Symptoms - Less than 30% cases

Arthritis Arachnodactyly Glaucoma Brain neoplasm Type I diabetes mellitus Anemia Global developmental delay Hemolytic anemia Nystagmus Hearing impairment Hypothyroidism Abnormal lung morphology Spasticity Interstitial pulmonary abnormality Neoplasm Impaired proprioception Speech apraxia Reduced visual acuity Saccadic smooth pursuit Delayed menarche Iridocyclitis Abnormal involuntary eye movements Old-aged sensorineural hearing impairment Ketosis Parietal cortical atrophy Increased serum pyruvate Abnormality of the sella turcica Respiratory distress Abnormal motor evoked potentials Generalized hypotonia Fever Chorea Increased serum lactate Poor head control Corpus callosum atrophy Retinal atrophy Head tremor Limb ataxia Difficulty walking Rigidity Neurological speech impairment Ophthalmoplegia Infertility Unsteady gait Peripheral axonal neuropathy Distal amyotrophy Sensory neuropathy Postural instability Progressive cerebellar ataxia Memory impairment Type II diabetes mellitus Lower limb spasticity Truncal ataxia Hypoplasia of the pons Ankle clonus Progeroid facial appearance Oligomenorrhea Hand tremor Bruising susceptibility Uveitis Hyperactive deep tendon reflexes Gaze-evoked nystagmus Horizontal nystagmus Sensory axonal neuropathy Postural tremor Adducted thumb External ophthalmoplegia Pancreatitis Oculomotor apraxia Astigmatism Intellectual disability Hypopigmentation of the skin Chronic lung disease Chronic diarrhea Conjunctivitis Purpura Abnormal intestine morphology Recurrent upper respiratory tract infections Clubbing Combined immunodeficiency Autoimmune hemolytic anemia Recurrent sinusitis IgA deficiency Fatigable weakness Autoimmune thrombocytopenia Exocrine pancreatic insufficiency Clubbing of fingers Recurrent otitis media Villous atrophy Verrucae Cor pulmonale Immune dysregulation IgM deficiency Gastritis Interstitial pneumonitis Generalized lymphadenopathy Follicular hyperplasia Burkitt lymphoma Systemic lupus erythematosus Rheumatoid arthritis Juvenile rheumatoid arthritis Bronchiectasis Inflammatory abnormality of the skin Abnormal bleeding Splenomegaly Epistaxis Optic nerve hypoplasia Albinism Menorrhagia Hypoplasia of the fovea Ocular albinism Impaired platelet aggregation Hypopigmentation of the fundus Hyperopic astigmatism Growth delay Failure to thrive Diarrhea Congestive heart failure Immunodeficiency Pancytopenia Recurrent infections Thrombocytopenia Pneumonia Recurrent respiratory infections Respiratory failure Hepatosplenomegaly Respiratory tract infection Autoimmunity Lymphadenopathy Neutropenia Asthma Lymphoma Decreased antibody level in blood Otitis media Intracranial hemorrhage Hypertonia Gait ataxia Postaxial polydactyly Carcinoma Proteinuria Telecanthus Cleft lip Facial palsy Sparse hair Coloboma Papule Hypotrichosis Carious teeth Cleft upper lip Oral cleft Iris coloboma Palmoplantar keratoderma Coarse facial features Nevus Hypotension Cerebral calcification Abnormality of the ribs Hemiparesis Exotropia Hyperpigmentation of the skin Bradycardia Spina bifida Short ribs Muscle stiffness Hypogonadotrophic hypogonadism Hemivertebrae EEG abnormality Retrognathia Neoplasm of the skin Macrocephaly Microcephaly Scoliosis Hypertelorism Micrognathia Strabismus Cleft palate Pain Cataract Cryptorchidism Motor delay Epicanthus Brachydactyly Wide nasal bridge Downslanted palpebral fissures Kyphoscoliosis Frontal bossing Abnormality of the skeletal system Hydrocephalus Abnormality of the dentition Syndactyly Microphthalmia Pectus excavatum Visual loss Brachycephaly Abdominal pain Polydactyly Proptosis Mandibular prognathia Spina bifida occulta Relative macrocephaly Hypogonadism Hamartomatous stomach polyps Palmar pits Orbital cyst Calcification of falx cerebri Histiocytoma Curved fingers Bifid ribs Cardiac rhabdomyoma Odontogenic keratocysts of the jaw Ovarian fibroma Plantar pits Bridged sella turcica Cardiac fibroma Irregular ossification of hand bones Seizures Severe hydrocephalus Abnormal facial shape Cognitive impairment Peripheral neuropathy Hyperreflexia Tremor Gait disturbance Dysphagia Hypoplasia of the corpus callosum Cerebellar atrophy Babinski sign Alopecia Cerebellar hypoplasia Myoclonus Short distal phalanx of the thumb Multiple impacted teeth Glomerulonephritis Down-sloping shoulders Nephritis Melanocytic nevus Disproportionate tall stature Milia Basal cell carcinoma Long fingers Agenesis of permanent teeth Vertebral fusion Abnormality of the sternum Thoracic scoliosis Sprengel anomaly Narrow nose Fragile nails Skin tags Ovarian carcinoma Short 4th metacarpal Abnormality of the neck Neoplasm of the endocrine system Broad face Astrocytoma Medulloblastoma Ectopic calcification Supernumerary ribs Cervical ribs Hamartomatous polyposis Fibroma Abnormality of the sense of smell Vertebral wedging Parietal bossing Jaundice


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