Generalized hypotonia, and Colon cancer

Diseases related with Generalized hypotonia and Colon cancer

In the following list you will find some of the most common rare diseases related to Generalized hypotonia and Colon cancer that can help you solving undiagnosed cases.

Top matches:

FAMILIAL ADENOMATOUS POLYPOSIS DUE TO 5Q22.2 MICRODELETION Is also known as familial adenomatous polyposis due to del(5)(q22.2)|colorectal adenomatous polyposis due to monosomy 5q22.2|familial polyposis coli due to monosomy 5q22.2|familial adenomatous polyposis due to monosomy 5q22.2|fap due to monosomy 5q22.2

Related symptoms:


SOURCES: ORPHANET MENDELIAN

More info about FAMILIAL ADENOMATOUS POLYPOSIS DUE TO 5Q22.2 MICRODELETION

Mosaic variegated aneuploidy (MVA) syndrome is a chromosomal anomaly characterized by multiple mosaic aneuploidies that leads to a variety of phenotypic abnormalities and cancer predisposition.

MOSAIC VARIEGATED ANEUPLOIDY SYNDROME Is also known as warburton-anyane-yeboa syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MOSAIC VARIEGATED ANEUPLOIDY SYNDROME

Medium match LYNCH SYNDROME

LYNCH SYNDROME Is also known as coca2|colon cancer, familial nonpolyposis, type 2|fcc2

Related symptoms:

  • Seizures
  • Neoplasm
  • Muscular hypotonia
  • Flexion contracture
  • Visual impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about LYNCH SYNDROME

Other less relevant matches:

Low match COWDEN SYNDROME

Cowden syndrome (CS) is a difficult to recognize, under-diagnosed genodermatosis characterized by the presence of multiple hamartomas in various tissues and an increased risk for malignancies of the breast, thyroid, endometrium, kidney and colorectum. When CS is accompanied by germline PTEN mutations, it belongs to the PTEN hamartoma tumor syndrome (PHTS; see this term) group.

COWDEN SYNDROME Is also known as bzs|cowden disease|bbrs|macrocephaly, multiple lipomas, and hemangiomata|pten hamartoma tumor syndrome with granular cell tumor|bannayan-zonana syndrome|macrocephaly, pseudopapilledema, and multiple hemangiomata|cs|cd|mham|pten hamartoma tumor syndrome|ri

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about COWDEN SYNDROME

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

Low match MPI-CDG

MPI-CDG is a form of congenital disorders of N-linked glycosylation, characterized by cyclic vomiting, profound hypoglycemia, failure to thrive, liver fibrosis, gastrointestinal complications (protein-losing enteropathy with hypoalbuminaemia, life-threatening intestinal bleeding of diffuse origin), and thrombotic events (protein C and S deficiency, low anti-thrombine III levels), whereas neurological development and cognitive capacity is usually normal. The clinical course is variable even within families. The disease is caused by loss of function of the gene MPI (15q24.1).

MPI-CDG Is also known as cdg-ib|cdg, gastrointestinal type|congenital disorder of glycosylation type ib|carbohydrate deficient glycoprotein syndrome type ib|saguenay-lac saint-jean syndrome|mpi deficiency|slsj syndrome|phosphomannose isomerase deficiency|cdg ib|cdgib|protein-losi

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Failure to thrive
  • Muscular hypotonia
  • Anemia


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about MPI-CDG

Leukocyte adhesion deficiency (LAD) is an autosomal recessive disorder of neutrophil function resulting from a deficiency of the beta-2 integrin subunit of the leukocyte cell adhesion molecule. The leukocyte cell adhesion molecule is present on the surface of peripheral blood mononuclear leukocytes and granulocytes and mediates cell-cell and cell-extracellular matrix adhesion. LAD is characterized by recurrent bacterial infections; impaired pus formation and wound healing; abnormalities of a wide variety of adhesion-dependent functions of granulocytes, monocytes, and lymphocytes; and a lack of beta-2/alpha-L, beta-2/alpha-M, and beta-2/alpha-X expression.

LEUKOCYTE ADHESION DEFICIENCY, TYPE I; LAD Is also known as lad1|lymphocyte function-associated antigen 1 immunodeficiency|lfa1 immunodeficiency

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Intellectual disability, severe
  • Immunodeficiency


SOURCES: OMIM MENDELIAN

More info about LEUKOCYTE ADHESION DEFICIENCY, TYPE I; LAD

Combined methylmalonic aciduria (MMA) and homocystinuria is a genetically heterogeneous disorder of cobalamin (cbl; vitamin B12) metabolism. The defect causes decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl), which results in decreased activity of the respective enzymes methylmalonyl-CoA mutase (MUT ) and methyltetrahydrofolate:homocysteine methyltransferase, also known as methionine synthase (MTR ). Different forms of the disorder have been classified according to complementation groups of cells in vitro: cblC (MAHCC ), cblD, cblF (MAHCF ), and cblJ (MAHCJ ).Isolated methylmalonic acidurias have also been classified by complementation groups: MMA 'mut' (OMIM ), caused by mutation in the MUT gene on chromosome 6p21; MMA cblA (OMIM ), caused by mutation in the MMAA gene (OMIM ) on 4q31; and MMA cblB (OMIM ), caused by mutation in the MMAB gene (OMIM ) on 12q24. Another form of isolated MMA (OMIM ) can be caused by defect in the transcobalamin receptor (CD320 ).

METHYLCOBALAMIN DEFICIENCY TYPE CBLDV1 Is also known as methylmalonic acidemia, cblh type, formerly|functional methionine synthase deficiency type cbldv1|methylmalonic aciduria, cblh type, formerly|methylmalonic acidemia and homocystinuria, cbld type

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about METHYLCOBALAMIN DEFICIENCY TYPE CBLDV1

Cutis laxa is a collection of disorders that are typified by loose and/or wrinkled skin that imparts a prematurely aged appearance. Face, hands, feet, joints, and torso may be differentially affected. The skin lacks elastic recoil, in marked contrast to the hyperelasticity apparent in classic Ehlers-Danlos syndrome (see {130000}). These properties are nearly always attributable to loss, fragmentation, or severe disorganization of dermal elastic fibers (summary by Davidson and Giro, 2002).Patients with autosomal recessive cutis laxa type IC exhibit generalized cutis laxa in association with impaired pulmonary, gastrointestinal, genitourinary, musculoskeletal, and dermal development (summary by Callewaert et al., 2013).For general phenotypic description and a discussion of genetic heterogeneity of autosomal recessive cutis laxa, see ARCL1A (OMIM ).

CUTIS LAXA WITH SEVERE PULMONARY, GASTROINTESTINAL AND URINARY ANOMALIES Is also known as urban-rifkin-davis syndrome|arcl1c|autosomal recessive cutis laxa type 1c|urds|cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities

Related symptoms:

  • Generalized hypotonia
  • Growth delay
  • Hypertelorism
  • Micrognathia
  • Depressed nasal bridge


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about CUTIS LAXA WITH SEVERE PULMONARY, GASTROINTESTINAL AND URINARY ANOMALIES

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). Genetic Heterogeneity of Classic Ehlers-Danlos SyndromeSee EDSCL2 (OMIM ), caused by mutation in the COL5A2 gene (OMIM ) on chromosome 2q32. Classification of Ehlers-Danlos SyndromeThe current OMIM classification of Ehlers-Danlos syndromes is based on a 2017 international classification described by Malfait et al. (2017), which recognizes 13 EDS subtypes: classic, classic-like ({606408}, {618000}), cardiac-valvular (OMIM ), vascular (OMIM ), hypermobile (OMIM ), arthrochalasia ({130060}, {617821}), dermatosparaxis (OMIM ), kyphoscoliotic ({225400}, {614557}), spondylodysplastic ({130070}, {615349}), musculocontractural ({601776}, {615539}), myopathic (OMIM ), periodontal ({130080}, {617174}), and brittle cornea syndrome ({229200}, {614170}). This classification is a revision of the 'Villefranche classification' reported by Beighton et al. (1998), which was widely used in the literature and in OMIM. For a description of the Villefranche classification, see HISTORY.In an early classification of EDS, the designations EDS I and EDS II were used for severe and mild forms of classic EDS, respectively. EDS I was characterized by marked skin involvement and generalized, gross joint laxity, with musculoskeletal deformity and diverse orthopedic complications. Prematurity occurred in approximately 50% of cases. Internal complications such as aortic and bowel rupture were occasionally present. EDS II had all the stigmata of EDS I, but to a minor degree (summary by Steinmann et al., 2002). Both were considered to be forms of classic EDS.

EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1; EDSCL1 Is also known as ehlers-danlos syndrome, gravis type, formerly|eds i, formerly|eds1, formerly|ehlers-danlos syndrome, type i, formerly|ehlers-danlos syndrome, severe classic type, formerly

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Motor delay
  • Hypertension
  • Epicanthus


SOURCES: OMIM MESH MENDELIAN

More info about EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1; EDSCL1

Top 5 symptoms//phenotypes associated to Generalized hypotonia and Colon cancer

Symptoms // Phenotype % cases
Intellectual disability Uncommon - Between 30% and 50% cases
Muscular hypotonia Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Generalized hypotonia and Colon cancer. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Intestinal polyposis Dilatation Failure to thrive Micrognathia Neoplasm

Rare Symptoms - Less than 30% cases

Gait disturbance Nausea and vomiting Malabsorption Carcinoma Hernia Behavioral abnormality Inguinal hernia Fatigue Joint laxity Umbilical hernia Increased intracranial pressure Cellulitis Recurrent urinary tract infections Multiple cafe-au-lait spots Bladder diverticulum Microretrognathia Rectal prolapse Gastrointestinal hemorrhage Ovarian neoplasm Hepatomegaly Anemia Intracranial hemorrhage Vomiting Abnormal bleeding Chronic diarrhea Enterocolitis Joint hypermobility Bruising susceptibility Immunodeficiency Respiratory distress Diarrhea Periodontitis Myopia Motor delay Sloping forehead Hypertelorism Ataxia Neoplasm of the thyroid gland Cafe-au-lait spot Breast carcinoma Intellectual disability, mild Frontal bossing Apnea Cognitive impairment Cataract Hypothyroidism Growth delay Depressed nasal bridge Epicanthus Low-set ears Downslanted palpebral fissures Hearing impairment Atrial septal defect Recurrent bacterial infections Villous atrophy Protein-losing enteropathy Congenital hepatic fibrosis Generalized edema Irregularly spaced teeth Arterial rupture Peritonitis Hypoproteinemia Gingivitis Hyperinsulinemic hypoglycemia Abnormality of the coagulation cascade Juvenile rheumatoid arthritis Hypoalbuminemia Abnormal intestine morphology Abnormal thrombosis Type I transferrin isoform profile Bowel diverticulosis Pneumonia Epistaxis Recurrent skin infections Otitis media Hyperextensibility at elbow Confusion Arthritis Intellectual disability, severe Microvesicular hepatic steatosis Lymphangiectasis Reduced factor XI activity Rheumatoid arthritis Reduced antithrombin III activity Leukocytosis Secretory diarrhea Intestinal lymphangiectasia Hepatic fibrosis Hepatic steatosis Lymphedema Colorectal polyposis Enlarged cerebellum Cutis marmorata telangiectatica congenita Fibroadenoma of the breast Transitional cell carcinoma of the bladder Acrokeratosis Mucosal telangiectasiae Pseudopapilledema Progressive macrocephaly Endometrial carcinoma Dysplastic gangliocytoma of the cerebellum Follicular thyroid carcinoma Varicocele Thyroid adenoma Intestinal polyp Ovarian carcinoma Angioid streaks of the fundus Abnormality of the penis Subcutaneous lipoma Trichilemmoma Conjunctival hamartoma Coma Increased serum pyruvate Recurrent bacterial skin infections Hepatic failure Cirrhosis Abnormality of the liver Hypoglycemia Subcutaneous spheroids Edema Hyperextensibility of the knee Ketosis Ductal carcinoma in situ Colitis Poor head control Premature birth following premature rupture of fetal membranes Increased serum lactate Chorea Fever Lobular carcinoma in situ Multiple trichilemmomata Merkel cell skin cancer Abnormal thrombocyte morphology Inflammatory abnormality of the skin Rectal abscess Convex nasal ridge Pyloric stenosis Laryngomalacia Cutis laxa Sandal gap Large fontanelles Fragile skin Aortic root aneurysm Congenital diaphragmatic hernia Pulmonary hypoplasia Patent foramen ovale Sparse hair Soft skin Hydronephrosis Hiatus hernia Retrognathia Macrotia Gastroesophageal reflux Respiratory failure Aortic dissection Atrophic scars Aortic aneurysm Generalized joint laxity Hypertension Mitral valve prolapse Osteoarthritis Asthma Retinal detachment Abnormality of the foot Pes planus Kyphoscoliosis Joint dislocation Bronchomalacia Emphysema Infantile muscular hypotonia Hyperextensible skin Periorbital edema Ectopia lentis Peripheral pulmonary artery stenosis Premature skin wrinkling Pulmonary artery stenosis Tracheomalacia Prematurely aged appearance Varicose veins Spondylolisthesis Blue sclerae Premature rupture of membranes Aciduria Lethargy Pallor Abnormality of the nervous system Acidosis Cerebral cortical atrophy Dystonia Cerebellar atrophy Narrow maxilla Cigarette-paper scars Feeding difficulties Nystagmus Recurrent gram-negative bacterial infections Recurrent staphylococcal infections Abnormal granulocyte morphology Severe periodontitis Decreased platelet glycoprotein IIb-IIIa Molluscoid pseudotumors Myxomatous mitral valve degeneration Dehydration Anorexia Midface retrusion Poor wound healing Malar flattening Long philtrum Hyperextensibility of the finger joints Wide nasal bridge Hypomethioninemia Decreased methylmalonyl-CoA mutase activity Decreased adenosylcobalamin Decreased methionine synthase activity Megaloblastic bone marrow Decreased methylcobalamin Megaloblastic anemia Hyperhomocystinemia Methylmalonic acidemia Eczematoid dermatitis Homocystinuria Spastic ataxia Lop ear Adenoma sebaceum Methylmalonic aciduria Increased mean corpuscular volume Colonic diverticula Hashimoto thyroiditis Decreased proportion of CD4-positive T cells Rhabdomyosarcoma Visual impairment Flexion contracture Vaginal neoplasm Premature chromatid separation Epidermoid cyst Increased nuchal translucency Abnormal aortic morphology Stomach cancer Subvalvular aortic stenosis Hypertonia Abnormality of the upper limb Duodenal atresia Abnormality of the skull Acute lymphoblastic leukemia Abnormal lung lobation Abnormality of immune system physiology Atrioventricular canal defect Aplasia/Hypoplasia of the cerebellum Nephroblastoma Dysarthria Depressivity Abnormality of vision Migraine Pituitary adenoma Neoplasm of the pancreas Hepatocellular carcinoma Neuroblastoma Visual field defect Basal cell carcinoma Hemiplegia/hemiparesis Hallucinations Memory impairment Dyskinesia Constipation Paresthesia Neurological speech impairment Attention deficit hyperactivity disorder Abnormal pyramidal sign Irritability Developmental regression Anxiety Weight loss Abdominal pain Myelodysplasia Sleep apnea Dysgraphia Clinodactyly Abnormality of the eye Low-set, posteriorly rotated ears Deeply set eye High forehead Polyhydramnios Glaucoma Clinodactyly of the 5th finger Delayed skeletal maturation Abnormal heart morphology Abnormality of cardiovascular system morphology Blepharophimosis Microphthalmia Short nose Ventriculomegaly Ventricular septal defect Abnormality of the skeletal system Intrauterine growth retardation Cleft palate Abnormal facial shape Microcephaly Craniosynostosis Corneal opacity Aplasia/Hypoplasia of the corpus callosum Ambiguous genitalia Aortic regurgitation Holoprosencephaly Osteolysis Finger clinodactyly Multicystic kidney dysplasia Rhizomelia Depressed nasal ridge Short palpebral fissure Coarctation of aorta Dandy-Walker malformation Small for gestational age Growth hormone deficiency Triangular face Ascites Wide nose Bulbous nose Long face Abnormality of skin pigmentation Dolichocephaly Muscular dystrophy Prostate cancer Amaurosis fugax Neoplasm of the central nervous system Cutis marmorata Hodgkin lymphoma Thyroiditis Hyperthyroidism Hamartoma Acute myeloid leukemia Cystic hygroma Multiple lipomas Abnormality of the thyroid gland Macule Melanocytic nevus Scaphocephaly Hand polydactyly Dysdiadochokinesis Incoordination Palmoplantar hyperkeratosis Goiter Melanoma Hypopigmented skin patches Hemangioma Drooling Renal cell carcinoma Lipoma Neoplasm of the skin Ovarian cyst Generalized hyperkeratosis Fibroma Hamartomatous polyposis Papilloma Enlarged polycystic ovaries Cavernous hemangioma Long penis Cellular immunodeficiency Bone cyst Astrocytoma Abnormality of the vasculature Abnormality of the uterus Furrowed tongue Arteriovenous malformation Hydrocele testis Meningioma Megalencephaly Skin tags Prolactin excess Papilledema Cranial nerve paralysis Lymphopenia Leiomyosarcoma Muscle weakness Myopathy Hydrocephalus Tremor Macrocephaly Skeletal muscle atrophy Brachydactyly Delayed speech and language development High palate Pain Scoliosis Headache Urinary tract neoplasm Cardiac diverticulum Neoplasm of the rectum Abnormality of creatine metabolism Neoplasm of the skeletal system Benign neoplasm of the central nervous system Agnosia Glioblastoma multiforme Pancreatic adenocarcinoma Kyphosis Recurrent infections Gynecomastia Abnormal cerebellum morphology Exotropia Telangiectasia Subcutaneous nodule Broad thumb Intention tremor Overgrowth Decreased antibody level in blood Lymphoma Macroglossia Hypoplasia of the maxilla Pectus excavatum Palmoplantar keratoderma Polymicrogyria Papule Leukemia Abnormality of the kidney Intellectual disability, moderate Proximal muscle weakness Narrow mouth Autism Membranous ventricular septal aneurysm


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