Cardiomyopathy, and Aganglionic megacolon

Diseases related with Cardiomyopathy and Aganglionic megacolon

In the following list you will find some of the most common rare diseases related to Cardiomyopathy and Aganglionic megacolon that can help you solving undiagnosed cases.


Top matches:

Low match NEUROFIBROMATOSIS TYPE 1 DUE TO NF1 MUTATION OR INTRAGENIC DELETION


Neurofibromatosis type I is an autosomal dominant disorder characterized by cafe-au-lait spots, Lisch nodules in the eye, and fibromatous tumors of the skin. Individuals with the disorder have increased susceptibility to the development of benign and malignant tumors. NF1 is sometimes referred to as 'peripheral neurofibromatosis.' The worldwide incidence of NF1 is 1 in 2,500 to 1 in 3,000 individuals (reviews by Shen et al., 1996 and Williams et al., 2009).Type II neurofibromatosis (NF2 ) is a genetically distinct disorder caused by mutation in the gene encoding merlin (NF2 ) on chromosome 22q12. NF2, sometimes known as 'central neurofibromatosis,' is characterized by bilateral acoustic neuroma and meningioma, but few skin lesions or neurofibromas (Rouleau et al., 1993).Some patients with homozygous or compound heterozygous mutations in mismatch repair genes (see, e.g., MLH1; {120436} and MSH2; {609309}) have a phenotype characterized by early onset malignancies and mild features of NF1, especially cafe-au-lait spots; this is known as the mismatch repair cancer syndrome (OMIM ), sometimes referred to as brain tumor-polyposis syndrome-1 or Turcot syndrome. These patients typically do not have germline mutations in the NF1 gene, although a study by Wang et al. (2003) suggested that biallelic mutations in mismatch repair genes may cause somatic mutations in the NF1 gene, perhaps resulting in isolated features resembling NF1.See also Legius syndrome (OMIM ), a genetically distinct disorder with a similar phenotype to NF1.

NEUROFIBROMATOSIS TYPE 1 DUE TO NF1 MUTATION OR INTRAGENIC DELETION Is also known as von recklinghausen disease due to nf1 mutation or intragenic deletion|neurofibromatosis, peripheral type|von recklinghausen disease

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Scoliosis
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEUROFIBROMATOSIS TYPE 1 DUE TO NF1 MUTATION OR INTRAGENIC DELETION

Low match CARTILAGE-HAIR HYPOPLASIA


Cartilage-hair hypoplasia is a disease affecting the bone metaphyses causing small stature from birth.

CARTILAGE-HAIR HYPOPLASIA Is also known as autosomal recessive metaphyseal chondrodysplasia|metaphyseal chondrodysplasia, mckusick type

Related symptoms:

  • Intellectual disability
  • Short stature
  • Scoliosis
  • Growth delay
  • Neoplasm


SOURCES: OMIM ORPHANET MENDELIAN

More info about CARTILAGE-HAIR HYPOPLASIA

Low match FANCONI ANEMIA


Fanconi anemia (FA) is a hereditary DNA repair disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors.

FANCONI ANEMIA Is also known as fanconi pancytopenia|fanconi anemia|fa

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about FANCONI ANEMIA

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Other less relevant matches:

Low match ATTRV122I AMYLOIDOSIS


Transthyretin (TTR)-related familial amyloidotic cardiomyopathy is a hereditary TTR-related systemic amyloidosis (ATTR) with predominant cardiac involvement resulting from myocardial infiltration of abnormal amyloid protein.

ATTRV122I AMYLOIDOSIS Is also known as attr cardiomyopathy|attrv122i-related amyloidosis|transthyretin-related familial amyloid cardiomyopathy|transthyretin amyloid cardiopathy|ttr-related amyloid cardiomyopathy|ttr-related cardiac amyloidosis

Related symptoms:

  • Muscle weakness
  • Cardiomyopathy
  • Diarrhea
  • Congestive heart failure
  • Arrhythmia


SOURCES: ORPHANET MENDELIAN

More info about ATTRV122I AMYLOIDOSIS

Low match AGEL AMYLOIDOSIS


AGel amyloidosis is a rare, systemic amyloidosis characterized by a triad of ophthalmologic, neurologic and dermatologic findings due to the deposition of gelsolin amyloid fibrils in these tissues. Clinical manifestations include corneal lattice dystrophy, cranial neuropathy, especially affecting the facial nerve, bulbar signs, cutis laxa, increased skin fragility, and less commonly peripheral neuropathy and renal failure.

AGEL AMYLOIDOSIS Is also known as amyloid cranial neuropathy with lattice corneal dystrophy|amyloidosis, meretoja type|amyloidosis due to mutant gelsolin|amyloidosis v|familial amyloidosis, finnish type|gelsolin amyloidosis|familial amyloid polyneuropathy type iv|hereditary amyloidosis, f

Related symptoms:

  • Cataract
  • Ptosis
  • Peripheral neuropathy
  • Cardiomyopathy
  • Renal insufficiency


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about AGEL AMYLOIDOSIS

Low match CYCLIC VOMITING SYNDROME; CVS


Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about CYCLIC VOMITING SYNDROME; CVS

Low match ADULT POLYGLUCOSAN BODY DISEASE


Adult polyglucosan body disease (APBD) is a glycogen storage disease of adults characterized by progressive upper and lower motor neuron dysfunction, progressive neurogenic bladder and cognitive difficulties that can lead to dementia.

ADULT POLYGLUCOSAN BODY DISEASE Is also known as apbd|polyglucosan body disease, adult form

Related symptoms:

  • Intellectual disability
  • Ataxia
  • Muscle weakness
  • Spasticity
  • Cognitive impairment


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about ADULT POLYGLUCOSAN BODY DISEASE

Low match WOLFRAM SYNDROME


Wolfram syndrome (WS) also known as DIDMOAD, is a neurodegenerative disorder characterized by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs. Other related problems are urinary tract atony, ataxia, peripheral neuropathy, psychiatric disorders and/or seizures. 2 types of WS may be distinguished: type 1 and type 2 (WS1 and WS2).

WOLFRAM SYNDROME Is also known as didmoad syndrome|diabetes insipidus-diabetes mellitus-optic atrophy-deafness syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about WOLFRAM SYNDROME

Low match ATTRV30M AMYLOIDOSIS


Familial amyloid polyneuropathy (FAP) or transthyretin (TTR) amyloid polyneuropathy is a progressive sensorimotor and autonomic neuropathy of adulthood onset. Weight loss and cardiac involvement are frequent; ocular or renal complications may also occur.

ATTRV30M AMYLOIDOSIS Is also known as familial amyloid polyneuropathy type i|ttr amyloid neuropathy|attrv30m-related amyloidosis|hereditary amyloidosis, transthyretin-related|transthyretin amyloid polyneuropathy|familial amyloid polyneuropathy, portuguese-swedish-japanese type|fap|amyloid pol

Related symptoms:

  • Seizures
  • Hearing impairment
  • Ataxia
  • Nystagmus
  • Sensorineural hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about ATTRV30M AMYLOIDOSIS

Low match ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA; AIMAH1


ACTH-independent macronodular adrenal hyperplasia (AIMAH) is an endogenous form of adrenal Cushing syndrome characterized by multiple bilateral adrenocortical nodules that cause a striking enlargement of the adrenal glands. Although some familial cases have been reported, the vast majority of AIMAH cases are sporadic. Patients typically present in the fifth and sixth decades of life, approximately 10 years later than most patients with other causes of Cushing syndrome (Swain et al., 1998; Christopoulos et al., 2005).Approximately 10 to 15% of adrenal Cushing syndrome is due to primary bilateral ACTH-independent adrenocortical pathology. The 2 main subtypes are AIMAH and primary pigmented nodular adrenocortical disease (PPNAD, see {610489}), which is often a component of the Carney complex (OMIM ) and associated with mutations in the PRKAR1A gene (OMIM ) on chromosome 17q23-q24. AIMAH is rare, representing less than 1% of endogenous causes of Cushing syndrome (Swain et al., 1998; Christopoulos et al., 2005).See also ACTH-independent Cushing syndrome (OMIM ) due to somatic mutation in the PRKACA gene (OMIM ).Cushing 'disease' (OMIM ) is an ACTH-dependent disorder caused in most cases by pituitary adenomas that secrete excessive ACTH. Genetic Heterogeneity of ACTH-Independent Macronodular Adrenal HyperplasiaAIMAH2 (OMIM ) is caused by germline mutation of 1 allele of the ARMC5 gene (OMIM ) coupled with a somatic mutation in the other allele.

ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA; AIMAH1 Is also known as acth-independent macronodular adrenocortical hyperplasia|cushing syndrome, adrenal, due to aimah|corticotropin-independent macronodular adrenal hyperplasia|adrenocorticotropic hormone-independent macronodular adrenal hyperplasia

Related symptoms:

  • Neoplasm
  • Failure to thrive
  • Muscle weakness
  • Cataract
  • Visual impairment


SOURCES: OMIM MESH MENDELIAN

More info about ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA; AIMAH1

Top 5 symptoms//phenotypes associated to Cardiomyopathy and Aganglionic megacolon

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Peripheral neuropathy Uncommon - Between 30% and 50% cases
Visual impairment Uncommon - Between 30% and 50% cases
Ataxia Uncommon - Between 30% and 50% cases
Headache Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Cardiomyopathy and Aganglionic megacolon. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Orthostatic hypotension Muscle weakness Behavioral abnormality Seizures Diarrhea Constipation Malabsorption Anemia Cognitive impairment Peripheral axonal neuropathy Paresthesia Hypotension Neoplasm Abnormal autonomic nervous system physiology Lymphoma Gastrointestinal hemorrhage Diabetes mellitus Congestive heart failure Fatigue Fever Dementia Cataract Nystagmus Hearing impairment Myopathy Leukemia Growth delay Failure to thrive Strabismus Cardiac amyloidosis Polyneuropathy Abnormal cardiac septum morphology Impotence Renal insufficiency Hypertension Hydrocephalus Abnormality of the skeletal system Pain Scoliosis Ptosis Respiratory insufficiency Short stature Dysarthria Weight loss Glaucoma

Rare Symptoms - Less than 30% cases


Sleep disturbance Nephropathy Epicanthus Hallucinations Muscular hypotonia Hepatomegaly Attention deficit hyperactivity disorder Abnormality of the urinary system Exercise intolerance Immunodeficiency Arrhythmia Global developmental delay Microcephaly Dilatation Abnormality of cardiovascular system morphology Depressivity Visual loss Abnormal heart morphology Osteoporosis Paralysis Hypoplastic anemia Thrombocytopenia Hemiparesis Migraine Lethargy Reduced tendon reflexes Cerebral cortical atrophy Mental deterioration Abdominal pain Vomiting Paraplegia Urinary incontinence Heart block B-cell lymphoma Squamous cell carcinoma Aplastic anemia Hypopigmentation of the skin Neutropenia Amyloidosis Abnormality of chromosome stability Hypertelorism Abnormal facial shape Psychomotor deterioration Carcinoma Severe short stature Sensorineural hearing impairment Ventriculomegaly Spasticity Reduced bone mineral density Abnormality of skin pigmentation Spina bifida Recurrent urinary tract infections Cafe-au-lait spot Autism Bruising susceptibility Vertigo Tibial bowing Multiple cafe-au-lait spots Tetralogy of Fallot Overweight Neoplasm of the endocrine system Osteopenia Recurrent fractures Venous thrombosis Facial asymmetry Hypogonadism Hypertrophic cardiomyopathy Abnormality of the upper limb Bulbar palsy Nausea and vomiting Corneal dystrophy Cutis laxa Nausea Aplasia/Hypoplasia of the radius Hyperhidrosis Palpitations Irregular hyperpigmentation Nephrotic syndrome Anorexia Abnormality of the uterus Abnormality of mitochondrial metabolism Abnormality of the testis Everted lower lip vermilion Poor speech Arteriovenous malformation Abnormality of abdomen morphology Abnormality of the ulna Hearing abnormality Photophobia Acute myeloid leukemia Pallor Motor delay Generalized hypotonia Generalized amyloid deposition Bilateral facial palsy Corneal opacity Abnormality of blood and blood-forming tissues Lattice corneal dystrophy Mild proteinuria Facial paralysis External ear malformation Abnormal eyelid morphology Bulbar signs Absent radius Chromosome breakage Absent testis Proteinuria Aplasia/Hypoplasia of fingers Duodenal stenosis Duplicated collecting system Meckel diverticulum Absent thumb Low-grade fever Aplasia/Hypoplasia of the iris Complete duplication of thumb phalanx Abnormality of the preputium Partial duplication of thumb phalanx Pyridoxine-responsive sideroblastic anemia Aplasia/Hypoplasia of the uvula Primary hypothyroidism Clubbing of toes Neoplasm of head and neck Decreased fertility in males Deficient excision of UV-induced pyrimidine dimers in DNA Chromosomal breakage induced by crosslinking agents Anemic pallor Prolonged G2 phase of cell cycle Myeloid leukemia Abnormal carotid artery morphology Almond-shaped palpebral fissure EMG: myopathic abnormalities Pericardial effusion Orthostatic syncope Atrial arrhythmia Abnormal ventricular filling Ectopic kidney Compensated hypothyroidism Abnormality of the thumb Bicornuate uterus Abnormality of femur morphology Peripheral edema Acute monocytic leukemia Biventricular hypertrophy Abnormality of the hypothalamus-pituitary axis Abnormal echocardiogram Abnormality of nervous system morphology Reduced ejection fraction Abnormal aortic valve morphology Abnormal renal morphology Abnormal localization of kidney Reticulocytopenia Hydroureter Abnormal aortic morphology Right ventricular hypertrophy Edema of the lower limbs Exertional dyspnea Atrial fibrillation Hypomimic face Gastrointestinal dysmotility Constrictive median neuropathy Infertility Anxiety Obesity Kyphosis Edema Skeletal muscle atrophy Amyloid deposition in the vitreous humor Vitreous floaters Orthostatic hypotension due to autonomic dysfunction Urinary retention Sensory ataxia Abnormal renal physiology Myelopathy Stroke-like episode Round face Multiple myeloma Restrictive cardiomyopathy Increased CSF protein Syringomyelia Decreased number of peripheral myelinated nerve fibers Axonal degeneration Aphasia Malnutrition Cerebral hemorrhage Rheumatoid arthritis Cachexia Atrioventricular block Spastic paraparesis Hirsutism Memory impairment Vasculitis Aseptic necrosis Macronodular adrenal hyperplasia Dorsocervical fat pad Moon facies Metrorrhagia Onychomycosis Mood changes Decreased circulating ACTH level Abdominal obesity Pituitary adenoma Adrenal hyperplasia Increased circulating cortisol level Bipolar affective disorder Subarachnoid hemorrhage Generalized hyperpigmentation Psychosis Striae distensae Telangiectasia of the skin Truncal obesity Menorrhagia Agitation Acne Premature ovarian insufficiency Lipodystrophy Hypokalemia Recurrent skin infections Generalized hirsutism Increased body weight Nephrolithiasis Thin skin Paraparesis Cardiomegaly Gait disturbance Tetraparesis Corpus callosum atrophy Glucose intolerance Slow saccadic eye movements Urinary bladder sphincter dysfunction Abnormality of the periventricular white matter Urinary urgency Amyotrophic lateral sclerosis EMG abnormality Foot dorsiflexor weakness Skin ulcer Decreased liver function Progressive muscle weakness Lower limb spasticity Abnormality of extrapyramidal motor function CNS demyelination Bradykinesia Sensory impairment Limitation of joint mobility Distal sensory impairment Abnormality of the cerebral white matter Spastic paraplegia Abnormal pyramidal sign Difficulty walking Gait ataxia Babinski sign Abnormality of metabolism/homeostasis Hypertonia Cerebellar atrophy Hypoplasia of the corpus callosum Neurogenic bladder Motor polyneuropathy Bilateral sensorineural hearing impairment Dysuria Peripheral demyelination Neuronal loss in central nervous system Gliosis Coma Facial palsy Arthritis Hyporeflexia Areflexia Tremor Abnormality of mesentery morphology Gastric ulcer Central apnea Male hypogonadism Diabetes insipidus Progressive spastic paraparesis Polydipsia Delayed puberty Ophthalmoplegia Joint stiffness Feeding difficulties in infancy Developmental regression Optic atrophy Cervical spinal cord atrophy Lafora bodies Decreased/absent ankle reflexes Abnormality of central motor function Decreased urine output Erectile abnormalities Abnormal upper motor neuron morphology Hypoplasia of the ulna Proptosis Tracheoesophageal fistula Arterial fibromuscular dysplasia Alopecia Delayed skeletal maturation Recurrent infections Splenomegaly Short neck Anteverted nares Myopia Wide nasal bridge Depressed nasal bridge Brow ptosis Tibial pseudoarthrosis Cerebral artery stenosis Spinal neurofibromas Prominent forehead Inguinal freckling Plexiform neurofibroma Acute promyelocytic leukemia Subcutaneous neurofibromas Optic nerve glioma Neurofibrosarcoma Neuroma Vestibular Schwannoma Embryonal rhabdomyosarcoma Axillary freckling Renovascular hypertension Renal artery stenosis Single ventricle Pneumonia Brachycephaly Soft tissue sarcoma Small hand Bronchiectasis Bowing of the long bones Abnormal form of the vertebral bodies Abnormality of the metaphysis Depressed nasal ridge Fine hair Blue sclerae Lumbar hyperlordosis Abnormality of the ribs Convex nasal ridge Decreased antibody level in blood Postural instability Short palm Macrotia Joint hypermobility Micromelia Joint hyperflexibility Narrow chest Hypotrichosis Arthrogryposis multiplex congenita Pectus carinatum Sparse hair Hyperlordosis Low-set, posteriorly rotated ears Joint laxity EEG abnormality Skeletal dysplasia Pseudoarthrosis Epigastric pain Rhizomelia Mitral valve prolapse Sensory axonal neuropathy Clitoral hypertrophy Precocious puberty Back pain Sarcoma Incoordination Breast carcinoma Atherosclerosis Sensorimotor neuropathy Bone pain Hypsarrhythmia Coarctation of aorta Abnormality of the cardiovascular system Pulmonary fibrosis Overgrowth Specific learning disability Genu valgum Pulmonic stenosis Pruritus Autistic behavior Hypoglycemia Kyphoscoliosis Hyperactivity Intellectual disability, mild Blindness Macrocephaly Delayed speech and language development Hypophosphatemia Neurofibromas Dural ectasia Night sweats Leiomyosarcoma Fibular bowing Gastrointestinal stroma tumor Neoplasm of the central nervous system Lisch nodules Chronic myelogenous leukemia Renal phosphate wasting Schwannoma Glioma Nasolacrimal duct obstruction Rhabdomyosarcoma Carcinoid tumor Paraganglioma Anomalous pulmonary venous return Freckling Complete atrioventricular canal defect Pheochromocytoma Parathyroid adenoma Aqueductal stenosis Astrocytoma Brain neoplasm Myocardial fibrosis Meningioma Gangrene Increased reactive oxygen species production Severe vision loss Renal cell carcinoma Osteomalacia Abnormality of epiphysis morphology Abnormality of retinal pigmentation Triphalangeal thumb Microphthalmia Abnormality of the liver Postnatal growth retardation Irritability Abnormality of the kidney Abnormality of the eye Pes planus Umbilical hernia Hypothyroidism Upslanted palpebral fissure Clinodactyly of the 5th finger Patent ductus arteriosus Hypospadias Atrial septal defect Finger syndactyly Respiratory distress Frontal bossing Intrauterine growth retardation Hyperreflexia High palate Cryptorchidism Cleft palate Micrognathia Pulmonary lymphoma Susceptibility to chickenpox Flaring of lower rib cage Absent pubertal growth spurt Abnormality of humoral immunity Small for gestational age Hip dislocation Severe T-cell immunodeficiency Abnormal vertebral morphology Myelodysplasia Hyperinsulinemia Abnormality of vision Hypopigmented skin patches Renal hypoplasia/aplasia Cranial nerve paralysis Azoospermia Leukopenia Type I diabetes mellitus Horseshoe kidney Bone marrow hypocellularity Hypergonadotropic hypogonadism Insulin resistance Dolichocephaly Short thumb Telangiectasia Abnormality of the genital system Choanal atresia Short palpebral fissure Pancytopenia Oligohydramnios Sloping forehead Renal agenesis Astigmatism Anal atresia Abnormality of the foot Toe syndactyly Biconvex vertebral bodies Sparse facial hair Gingival overgrowth Cone-shaped epiphysis Hypoplasia of the odontoid process Anal stenosis Hodgkin lymphoma Macrocytic anemia Metaphyseal dysplasia High hypermetropia Abnormality of the hip bone Basal cell carcinoma Limited elbow extension Femoral bowing Mesomelia Short thorax Metaphyseal widening Distal arthrogryposis Portal hypertension Genu varum Abnormality of pelvic girdle bone morphology Disproportionate short-limb short stature Sacral dimple Abnormal palate morphology Neoplasm of the skin Accelerated skeletal maturation Sparse eyelashes Hypocalcemia Short ribs Lymphopenia Sparse and thin eyebrow Esophageal atresia Exocrine pancreatic insufficiency Impaired lymphocyte transformation with phytohemagglutinin Normocytic anemia Metaphyseal dysostosis Non-Hodgkin lymphoma Long fibula Narrow vertebral interpedicular distance Abnormality of the distal phalanx of finger Abnormal T cell morphology Abnormally ossified vertebrae Abnormal bone ossification Neonatal short-limb short stature Congenital hypoplastic anemia Spinal dysraphism Large face Hypersplenism Mucopolysacchariduria Thrombocytosis Abnormal diaphysis morphology Diaphyseal thickening Bronchiolitis Metaphyseal cupping Cellular immunodeficiency Metaphyseal chondrodysplasia Aplasia/Hypoplasia affecting the eye Aplasia/Hypoplasia of the abdominal wall musculature Abnormality of the pancreas Generalized joint laxity Tracheal stenosis Fair hair Upper limb undergrowth Primary hypercortisolism



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