Skeletal muscle atrophy, and Colitis

Diseases related with Skeletal muscle atrophy and Colitis

In the following list you will find some of the most common rare diseases related to Skeletal muscle atrophy and Colitis that can help you solving undiagnosed cases.

Top matches:

Primary sclerosing cholangitis (PSC) is a rare, slowly progressive liver disease characterized by inflammation and destruction of the intra- and/or extra-hepatic bile ducts that lead to cholestasis, liver fibrosis, liver cirrhosis and ultimately liver failure.

PRIMARY SCLEROSING CHOLANGITIS Is also known as psc

Related symptoms:

  • Pain
  • Hypertension
  • Hepatomegaly
  • Fever
  • Fatigue


SOURCES: ORPHANET OMIM MENDELIAN

More info about PRIMARY SCLEROSING CHOLANGITIS

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

D-bifunctional protein deficiency is a disorder of peroxisomal fatty acid beta-oxidation. See also peroxisomal acyl-CoA oxidase deficiency (OMIM ), caused by mutation in the ACOX1 gene (OMIM ) on chromosome 17q25. The clinical manifestations of these 2 deficiencies are similar to those of disorders of peroxisomal assembly, including X-linked adrenoleukodystrophy (ALD ), Zellweger cerebrohepatorenal syndrome (see {214100}) and neonatal adrenoleukodystrophy (NALD; see {601539}) (Watkins et al., 1995).DBP deficiency has been classified into 3 subtypes depending upon the deficient enzyme activity. Type I is a deficiency of both 2-enoyl-CoA hydratase and 3-hydroxyacyl-CoA dehydrogenase; type II is a deficiency of hydratase activity alone; and type III is a deficiency of dehydrogenase activity alone. Virtually all patients with types I, II, and III have a severe phenotype characterized by infantile-onset of hypotonia, seizures, and abnormal facial features, and most die before age 2 years. McMillan et al. (2012) proposed a type IV deficiency on the basis of less severe features; these patients have a phenotype reminiscent of Perrault syndrome (PRLTS1 ). Pierce et al. (2010) noted that Perrault syndrome and DBP deficiency overlap clinically and suggested that DBP deficiency may be underdiagnosed.

D-BIFUNCTIONAL PROTEIN DEFICIENCY Is also known as peroxisomal bifunctional enzyme deficiency|dbp deficiency|17-beta-hydroxysteroid dehydrogenase iv deficiency|pbfe deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about D-BIFUNCTIONAL PROTEIN DEFICIENCY

Other less relevant matches:

Low match SARCOIDOSIS

Sarcoidosis is a multisystemic disorder of unknown cause characterized by the formation of immune granulomas in involved organs.

SARCOIDOSIS Is also known as boeck sarcoid|besnier-boeck-schaumann disease|sarcoidosis|boeck's sarcoid

Related symptoms:

  • Seizures
  • Pain
  • Cataract
  • Anemia
  • Visual impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about SARCOIDOSIS

Related symptoms:

  • Inflammation of the large intestine


SOURCES: OMIM MESH MENDELIAN

More info about INFLAMMATORY BOWEL DISEASE 13; IBD13

Autosomal recessive limb-girdle muscular dystrophy type 2S (LGMD2S) is a form of limb-girdle muscular dystrophy characterized by childhood-onset of progressive proximal muscle weakness (leading to reduced ambulation) with myalgia and fatigue, in addition to infantile hyperkinetic movements, truncal ataxia, and intellectual disability. Additional manifestations include scoliosis, hip dysplasia, and less commonly, ocular features (e.g. myopia, cataract) and seizures.

AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2S Is also known as muscular dystrophy, limb-girdle, type 2s|lgmd2s

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2S

Occipital horn syndrome (OHS) is a mild form of Menkes disease (MD, see this term), a syndrome characterized by progressive neurodegeneration and connective tissue disorders due to a copper transport defect.

OCCIPITAL HORN SYNDROME Is also known as eds ix, formerly|eds ix|ehlers-danlos syndrome type ix|ehlers-danlos syndrome type 9|x-linked cutis laxa|ehlers-danlos syndrome, occipital horn type, formerly|eds9, formerly|cutis laxa, x-linked, formerly

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about OCCIPITAL HORN SYNDROME

Prader-Willi syndrome is characterized by diminished fetal activity, obesity, muscular hypotonia, mental retardation, short stature, hypogonadotropic hypogonadism, and small hands and feet. It can be considered to be an autosomal dominant disorder and is caused by deletion or disruption of a gene or several genes on the proximal long arm of the paternal chromosome 15 or maternal uniparental disomy 15, because the gene(s) on the maternal chromosome(s) 15 are virtually inactive through imprinting. Horsthemke and Wagstaff (2008) provided a detailed review of the mechanisms of imprinting of the Prader-Willi/Angelman syndrome (OMIM ) region.See also the chromosome 15q11-q13 duplication syndrome (OMIM ), which shows overlapping clinical features.

PRADER-WILLI SYNDROME; PWS Is also known as prader-labhart-willi syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about PRADER-WILLI SYNDROME; PWS

5-Oxoprolinase deficiency is clinically a very heterogeneous condition characterized by 5-oxoprolinuria.

5-OXOPROLINASE DEFICIENCY Is also known as oxoprolinuria due to oxoprolinase deficiency|oxoprolinuria due to 5-oxoprolinase deficiency

Related symptoms:

  • Seizures
  • Pain
  • Respiratory distress
  • Vomiting
  • Diarrhea


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about 5-OXOPROLINASE DEFICIENCY

Top 5 symptoms//phenotypes associated to Skeletal muscle atrophy and Colitis

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Pain Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Inflammation of the large intestine Uncommon - Between 30% and 50% cases
Osteopenia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Skeletal muscle atrophy and Colitis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Congestive heart failure Hepatomegaly Abnormal facial shape Generalized hypotonia Uveitis Scoliosis Nystagmus Cerebellar atrophy Intellectual disability Strabismus Cataract Cholestasis Talipes equinovarus Dilatation Dolichocephaly Hypothermia High palate Hip dysplasia Fatigue Abnormality of the liver Fever Elevated hepatic transaminase Osteoporosis Renal insufficiency Weight loss Scarring

Rare Symptoms - Less than 30% cases

Hypoglycemia Hepatic steatosis Depressivity Large fontanelles Neonatal hypotonia High forehead Upslanted palpebral fissure Decreased muscle mass Delayed cranial suture closure Vomiting Pectus excavatum Hepatitis Ventriculomegaly Long philtrum Respiratory distress Epicanthus Depressed nasal bridge Visual impairment Abdominal pain Jaundice Micrognathia Failure to thrive Iridocyclitis Speech apraxia Corpus callosum atrophy Oligomenorrhea Truncal ataxia Enterocolitis Photophobia Edema Growth delay Infantile muscular hypotonia Carious teeth Generalized tonic-clonic seizures Muscular dystrophy Attention deficit hyperactivity disorder Adrenal insufficiency Esophagitis Hyporeflexia Myopathy Intrauterine growth retardation Myopia Motor delay Delayed speech and language development Feeding difficulties Short stature Type II diabetes mellitus Short palm Proximal muscle weakness Hypopigmentation of the skin Osteolysis Poor suck Splenomegaly Specific learning disability Genu valgum Muscular hypotonia Abnormality of the pinna Hypertension Kyphosis Intellectual disability, mild Diarrhea Intellectual disability, severe Lower limb spasticity Polymicrogyria Unsteady gait Dysphagia Hypothyroidism Ulcerative colitis Glaucoma Diabetes mellitus Hypogonadism Alopecia Hypoplasia of the corpus callosum Gait disturbance Ascites Pruritus Tremor Dysarthria Peripheral neuropathy Hearing impairment Cognitive impairment Spasticity Difficulty walking Ataxia Portal hypertension Pancreatitis Infertility Type I diabetes mellitus Arachnodactyly Pleural effusion Recurrent urinary tract infections Blue sclerae Cerebral calcification Down-sloping shoulders Premature skin wrinkling Abnormality of the wrist Abdominal obesity Convex nasal ridge Bruising susceptibility High, narrow palate Chronic diarrhea Poor fine motor coordination Joint hypermobility Generalized joint laxity Long face Broad ribs Joint hyperflexibility Anteverted ears Narrow chest Prominent superficial veins Abnormality of the face Soft skin Dental crowding Generalized hypopigmentation Short clavicles Acute kidney injury Short humerus Dislocated radial head Osteomalacia Orthostatic hypotension Limited elbow extension Carpal synostosis Rickets Bilateral ptosis Redundant skin Hiatus hernia Exostoses Hyperextensible skin Platyspondyly Cutis laxa Coxa vara Wormian bones Abnormality of the skull Atypical scarring of skin Ocular albinism Coxa valga Cor pulmonale Narrow face Coarse hair Gastroesophageal reflux Hip dislocation Metabolic acidosis Alacrima Hypopnea Calcium oxalate nephrolithiasis Almond-shaped palpebral fissure Poor gross motor coordination Acromicria Acidosis Muscle fiber atrophy Recurrent ear infections Achalasia Progressive proximal muscle weakness Right ventricular dilatation Restrictive ventilatory defect Athetosis Impulsivity Gowers sign Limb-girdle muscular dystrophy Cyanosis Hypocalcemia CNS hypomyelination Scapular winging Apraxia Generalized-onset seizure Narrow palm Psychotic episodes Pectus carinatum Disseminated intravascular coagulation Clitoral hypoplasia Joint laxity Hydronephrosis Pes planus Umbilical hernia Frontal upsweep of hair Abnormality of fibula morphology Inguinal hernia Hernia Erysipelas Triangular mouth Hypoplastic labia minora Temperature instability Abnormality of the skeletal system Downslanted palpebral fissures Brachydactyly Flexion contracture Ptosis Central adrenal insufficiency Exophoria Cerebral white matter atrophy Abnormal levels of creatine kinase in blood Intellectual disability, borderline Avascular necrosis of the capital femoral epiphysis Absent tibia Bladder diverticulum Pulmonary embolism Oligohydramnios Narrow forehead Abnormality of the cardiovascular system Amenorrhea Hyperprolinemia Febrile seizures Myeloid leukemia Growth hormone deficiency Impaired pain sensation Striae distensae Hypopigmentation of hair Psychosis Esotropia Gastrointestinal hemorrhage Full cheeks Increased level of L-pyroglutamic acid in urine Sepsis Sleep disturbance Tapered finger Short foot Small hand Hypoventilation Downturned corners of mouth Decreased fetal movement Cutaneous photosensitivity Hypermetropia Scrotal hypoplasia Skeletal muscle hypertrophy Albinism Glucose intolerance Large hands Emotional lability Radial deviation of finger External genital hypoplasia Hyperinsulinemia Precocious puberty Failure to thrive in infancy Nasal speech Sleep apnea Primary amenorrhea Bicuspid aortic valve Narrow palpebral fissure Spontaneous abortion Hypogonadotrophic hypogonadism Increased body weight Aortic valve stenosis Polyphagia Bradycardia Insulin resistance Clumsiness Narrow nasal bridge Delayed puberty Leukemia Venous insufficiency Hypoplasia of the fovea Persistent open anterior fontanelle Limited knee extension Bladder carcinoma Central hypotonia Overweight Pelvic bone exostoses Rudimentary to absent tibiae Aplasia/hypoplasia of the humerus Capitate-hamate fusion Abnormality of the pubic bone Acrocyanosis Large iliac wings Abnormality of esophagus physiology Broad clavicles Long neck Synostosis of joints Truncal obesity Abnormality of the sense of smell Keloids Gastroparesis Chromosome breakage Aplastic clavicle Thick hair Femoral hernia Ureteral obstruction Aortic rupture Stroke Recurrent respiratory infections Focal-onset seizure Respiratory tract infection Apnea Abnormality of the nervous system Thin upper lip vermilion Narrow mouth Autism Micropenis Respiratory failure Hyperbilirubinemia Prominent forehead Clinodactyly Carotid artery tortuosity Prolinuria Obesity Syndactyly Short nose Behavioral abnormality Abnormality of the dentition Iris hypopigmentation Cryptorchidism Neoplasm Abnormality of lipid metabolism Humerus varus Hyperactivity Vitreous floaters Waddling gait Old-aged sensorineural hearing impairment Delayed skeletal maturation Visual loss Hypospadias Frontal bossing Optic atrophy Macrocephaly Low-set ears Hypertelorism Abnormal motor evoked potentials Abnormality of the sella turcica Parietal cortical atrophy Abnormal involuntary eye movements Polyhydramnios Delayed menarche Saccadic smooth pursuit Impaired proprioception Head tremor Hypoplasia of the pons Progeroid facial appearance Hand tremor Retinal atrophy Hyperactive deep tendon reflexes Ankle clonus Gaze-evoked nystagmus Pneumonia Retrognathia Postural tremor Decreased nerve conduction velocity Cerebral dysmyelination Bile duct proliferation Undetectable electroretinogram Aspiration pneumonia Adrenal hypoplasia Scaphocephaly Primary adrenal insufficiency Cortical dysplasia Thoracic hypoplasia Aplasia/Hypoplasia of the cerebellum Hammertoe Progressive hearing impairment Feeding difficulties in infancy Aspiration Pachygyria Heterotopia Split hand Peripheral demyelination Progressive visual loss Gliosis Abdominal distention Renal cyst Talipes Abnormality of the cerebral white matter Severe global developmental delay Sensory axonal neuropathy Adducted thumb Chylous ascites Acute hepatic failure Vitamin K deficiency Vitamin A deficiency Cholangiocarcinoma Vitamin E deficiency Sclerosing cholangitis Abnormal eosinophil morphology Vitamin D deficiency Histiocytosis Prolonged prothrombin time Cholangitis Cholestatic liver disease Hepatocellular carcinoma Abnormal biliary tract morphology Thyroiditis Amyloidosis Celiac disease Abnormality of the thyroid gland Generalized amyotrophy Cholelithiasis Hypoalbuminemia Hepatic fibrosis Cirrhosis Autoimmunity Hepatosplenomegaly Encephalopathy Chronic hepatic failure Palmar telangiectasia External ophthalmoplegia Rigidity Oculomotor apraxia Horizontal nystagmus Limb ataxia Memory impairment Progressive cerebellar ataxia Postural instability Sensory neuropathy Distal amyotrophy Peripheral axonal neuropathy Ophthalmoplegia Neurological speech impairment Gait ataxia Elevated alkaline phosphatase of hepatic origin Myoclonus Cerebellar hypoplasia Babinski sign Hypertonia Hyperreflexia Adenocarcinoma of the large intestine Dilated superficial abdominal veins Recurrent systemic pyogenic infections Neoplasm of the gallbladder Abnormal large intestine physiology Spider hemangioma Polyclonal elevation of IgM Cerebral hypoplasia Renal cortical microcysts Chorea Abnormality of the adrenal glands Abnormality of T cell physiology Enlargement of parotid gland Posterior vitreous detachment Abnormality of skin morphology Abnormal reproductive system morphology Vitritis Abnormal conjunctiva morphology Abnormal salivary gland morphology Anterior uveitis Dacryocystitis Chorioretinitis Abnormality of the lymph nodes Abnormal liver parenchyma morphology Skin plaque Generalized lymphadenopathy Erythema nodosum Abnormality of the cerebrospinal fluid Cystoid macular edema Chylothorax Vitreous hemorrhage Abnormality of the pleura Pneumothorax Anterior synechiae of the anterior chamber Night sweats Skin nodule Non-caseating epithelioid cell granulomatosis Parotitis Immune dysregulation Constipation Muscle cramps Inability to walk Abnormality of movement Poor speech Congenital cataract Hyperlordosis Myalgia EEG abnormality Hyperkeratosis Cerebral cortical atrophy Brachycephaly Elevated serum creatine phosphokinase Abnormal cardiac ventricular function Absent speech Cerebral atrophy Dystonia Muscle weakness Microcephaly Abnormal trabecular meshwork morphology Pulmonary granulomatosis Vitreous snowballs Enlarged lacrimal glands Maculopapular exanthema Abnormality of the nasal mucosa Increased T cell count Bone cyst Macular edema Fetal ascites Lymphadenopathy Bronchiectasis Nephrolithiasis Subcutaneous nodule Abnormal lung morphology Palpitations Pancytopenia Syncope Sudden cardiac death Chest pain Hemolytic anemia Hepatic failure Papule Hyperpigmentation of the skin Cough Erythema Facial palsy Arthritis Dyspnea Arrhythmia Thrombocytopenia Headache Blindness Anemia Generalized cerebral atrophy/hypoplasia Calcific stippling Anorexia Decreased liver function Upper airway obstruction Interstitial pulmonary abnormality Abnormality of the gastrointestinal tract Tubulointerstitial nephritis Increased CSF protein Heart block Joint swelling Optic neuropathy Hemoptysis Keratoconjunctivitis sicca Hyperuricemia Hyperthyroidism Abnormality of the musculature Elevated erythrocyte sedimentation rate Nephrocalcinosis Chorioretinal atrophy Increased antibody level in blood Blurred vision Pulmonary fibrosis Emphysema Diabetes insipidus Epiphora Hypercalcemia Hypercalciuria Eosinophilia Ventricular tachycardia Leukopenia 5-oxoprolinase deficiency


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