Cardiomyopathy, and Hydrocephalus

Diseases related with Cardiomyopathy and Hydrocephalus

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


Top matches:

Low match HISTIOCYTOID CARDIOMYOPATHY


Histiocytoid cardiomyopathy is an arrhythmogenic disorder characterised by cardiomegaly, severe cardiac arrhythmias or sudden death, and the presence of histiocyte-like cells within the myocardium.

HISTIOCYTOID CARDIOMYOPATHY Is also known as foamy myocardial transformation of infancy|infantile cardiomyopathy with histiocytoid change|infantile xanthomatous cardiomyopathy|cardiomyopathy, oncocytic|cardiomyopathy, infantile xanthomatous|oncocytic cardiomyopathy|cardiomyopathy, focal lipid

Related symptoms:

  • Ventricular septal defect
  • Hydrocephalus
  • Cardiomyopathy
  • Atrial septal defect
  • Congestive heart failure


SOURCES: OMIM ORPHANET MENDELIAN

More info about HISTIOCYTOID CARDIOMYOPATHY

Low match AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2M


Autosomal recessive limb-girdle muscular dystrophy type 2M (LGMD2M) is a form of limb-girdle muscular dystrophy characterized by an infantile onset of hypotonia, axial and proximal lower limb weakness (with severe weakness noted after febrile illnesses), cardiomyopathy and normal or reduced intelligence. Hypertrophy of calves, thighs, and triceps have also been reported in some cases.

AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2M Is also known as muscular dystrophy, limb-girdle, autosomal recessive 13|lgmdr13|muscular dystrophy, limb-girdle, type 2m|lgmd2m

Related symptoms:

  • Generalized hypotonia
  • Growth delay
  • Muscle weakness
  • Muscular hypotonia
  • Flexion contracture


SOURCES: OMIM ORPHANET MESH MENDELIAN

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

Low match LIPOIC ACID SYNTHETASE DEFICIENCY


Lipoic acid synthetase deficiency is a rare neurometabolic disease characterized by a neonatal onset of seizures (often intractable), muscular hypotonia, feeding difficulties (poor sucking and/or swallowing) and mild to severe psychomotor delay, associated with nonketotic hyperglycinemia typically revealed by biochemical analysis. Respiratory problems (apnea, acute respiratory acidosis), lethargy, hearing loss, microcephaly and spasticity with pyramidal signs may also be associated.

LIPOIC ACID SYNTHETASE DEFICIENCY Is also known as pyruvate dehydrogenase lipoic acid synthetase deficiency|pdhld

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about LIPOIC ACID SYNTHETASE DEFICIENCY

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Other less relevant matches:

Low match LETHAL POLYMALFORMATIVE SYNDROME, BOISSEL TYPE


Lethal polymalformative syndrome, Boissel type is a rare, genetic, lethal, multiple congenital anomalies/dysmorphic syndrome characterized by failure to thrive, severe developmental delay, severe postanatal microcephaly, frequent congenital cardiac defects and characteristic facial dysmorphysm (including coarse face with anteverted nostrils, thin vermillion, prominent alveolar ridge and retro- or micrognatia). Additional common features include neurologic abnormalities (hyper-/hypotonia, sensorineural deafness, hydrocephalus, cerebral atrophy, seizures), as well as brachydactyly, cutis marmorata and genital anomalies.

Related symptoms:

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Growth delay


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about LETHAL POLYMALFORMATIVE SYNDROME, BOISSEL TYPE

Low match NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 1; NSLH1


Noonan syndrome-like disorder with loose anagen hair is characterized by facial features similar to those observed in Noonan syndrome (OMIM ), including hypertelorism, ptosis, downslanting palpebral fissures, low-set posteriorly angulated ears, and overfolded pinnae. In addition, patients display short stature, frequently with growth hormone (GH; see {139250}) deficiency; cognitive deficits; relative macrocephaly; small posterior fossa resulting in Chiari I malformation; hypernasal voice; cardiac defects, especially dysplasia of the mitral valve and septal defects; and ectodermal abnormalities, in which the most characteristic feature is the hair anomaly, including easily pluckable, sparse, thin, slow-growing hair (summary by Bertola et al., 2017). Genetic Heterogeneity of Noonan Syndrome-Like Disorder with Loose Anagen HairNSLH2 (OMIM ) is caused by mutation in the PPP1CB gene (OMIM ) on chromosome 2p23.

NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 1; NSLH1 Is also known as tosti syndrome|nslh

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 1; NSLH1

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 ALG12-CDG


ALG12-CDG is a form of congenital disorders of N-linked glycosylation characterized by facial dysmorphism (prominent forehead, large ears, thin upper lip), generalized hypotonia, feeding difficulties, moderate to severe developmental delay, progressive microcephaly, frequent upper respiratory tract infections due to impaired immunity with decreased immunoglobulin levels, and decreased coagulation factors. Additional features include hypogonadism with or without hypospadias in males, skeletal anomalies, seizures and cardiac anomalies in some cases. ALG12-CDG is caused by loss of function mutations of the gene ALG12 (22q13.33).

ALG12-CDG Is also known as cdg1g|mannosyltransferase 8 deficiency|congenital disorder of glycosylation type ig|cdgig|cdg ig|carbohydrate deficient glycoprotein syndrome type ig|cdg syndrome type ig|congenital disorder of glycosylation type 1g|cdg-ig

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about ALG12-CDG

Low match CONGENITAL MUSCULAR DYSTROPHY, FUKUYAMA TYPE


Fukuyama type muscular dystrophy (FCMD) is a congenital progressive muscular dystrophy characterized by brain malformation (cobblestone lissencephaly), dystrophic changes in skeletal muscle, severe intellectual deficit, epilepsy and motor impairment.

CONGENITAL MUSCULAR DYSTROPHY, FUKUYAMA TYPE Is also known as walker-warburg syndrome or muscle-eye-brain disease, fktn-related|fukuyama congenital muscular dystrophy|fcmd

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL MUSCULAR DYSTROPHY, FUKUYAMA TYPE

Low match TORIELLO-CAREY SYNDROME


Toriello Carey syndrome is a multiple congenital anomaly syndrome characterized by craniofacial dysmorphic features, cerebral anomalies, swallowing difficulties, cardiac defects and hypotonia.

TORIELLO-CAREY SYNDROME Is also known as toriello-carey syndrome|corpus callosum agenesis-blepharophimosis-robin sequence syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about TORIELLO-CAREY SYNDROME

Low match MUCOPOLYSACCHARIDOSIS, TYPE II; MPS2


Mucopolysaccharidosis II is a rare X-linked recessive disorder caused by deficiency of the lysosomal enzyme iduronate sulfatase, leading to progressive accumulation of glycosaminoglucans in nearly all cell types, tissues, and organs. Patients with MPS II excrete excessive amounts of chondroitin sulfate B (dermatan sulfate) and heparitin sulfate (heparan sulfate) in the urine (McKusick, 1972; Wraith et al., 2008).

MUCOPOLYSACCHARIDOSIS, TYPE II; MPS2 Is also known as hunter syndrome|sulfoiduronate sulfatase deficiency|sids deficiency|mps ii|ids deficiency|iduronate 2-sulfatase deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Ptosis


SOURCES: OMIM MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS, TYPE II; MPS2

Top 5 symptoms//phenotypes associated to Cardiomyopathy and Hydrocephalus

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Hearing impairment Uncommon - Between 30% and 50% cases
Ventricular septal defect Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Short neck Muscular hypotonia Flexion contracture Microcephaly Growth delay Intellectual disability Atrial septal defect Hypoplasia of the corpus callosum Macrocephaly Muscle weakness Pulmonic stenosis Motor delay Visual impairment Dilatation Failure to thrive Intrauterine growth retardation Feeding difficulties Apnea Severe global developmental delay Cognitive impairment Ptosis Abnormal facial shape Sensorineural hearing impairment Hypertrophic cardiomyopathy Congestive heart failure Abnormality of the pinna Dilated cardiomyopathy Agenesis of corpus callosum

Rare Symptoms - Less than 30% cases


Wolff-Parkinson-White syndrome Spastic tetraplegia Cerebellar vermis hypoplasia Diarrhea Vomiting Respiratory tract infection Coarse facial features Abnormality of the genital system Strabismus Edema Respiratory insufficiency Umbilical hernia Spasticity Corneal opacity Hypertelorism Spastic tetraparesis Tetraparesis Anteverted nares Retrognathia Patent ductus arteriosus Thin vermilion border Hernia Macroglossia Cardiomegaly Small nail Pachygyria Brachydactyly Cryptorchidism Cleft palate Hypoplastic left heart Delayed speech and language development Lissencephaly Areflexia Hypospadias Low-set ears Endocardial fibroelastosis Polyhydramnios Pes cavus Pectus excavatum Talipes equinovarus Muscular dystrophy Respiratory distress Downslanted palpebral fissures Myelopathy Attention deficit hyperactivity disorder Skeletal muscle atrophy Cerebellar hypoplasia Abnormal cardiac septum morphology Hyporeflexia Microphthalmia Elevated serum creatine phosphokinase Postural instability Arrhythmia Abnormal heart morphology Abnormality of the cerebral white matter Hypoglycosylation of alpha-dystroglycan Dolichocephaly Spinal rigidity Generalized amyotrophy Calf muscle hypertrophy Skeletal muscle hypertrophy Hypoplasia of the pyramidal tract Agyria Mask-like facies Cephalocele Increased variability in muscle fiber diameter Multiple joint contractures Cortical dysplasia Thoracic hemivertebrae Anencephaly Cerebellar cyst Transposition of the great arteries Weak cry Exaggerated startle response Type II lissencephaly Atrophy/Degeneration affecting the brainstem Ankle contracture Cerebellar dysplasia Buphthalmos Retinal dysplasia Myocardial fibrosis Myopia Hemivertebrae Hypoplasia of the brainstem Glaucoma Congenital cataract Hypermetropia Arthrogryposis multiplex congenita Hip dislocation Camptodactyly of finger Neonatal hypotonia Rigidity EEG abnormality Brachycephaly Short femur Myopathy Intellectual disability, severe Ventriculomegaly Gait disturbance Optic atrophy Generalized edema Butterfly vertebrae Scoliosis Cataract Prolonged partial thromboplastin time Short tibia Congenital muscular dystrophy EMG abnormality Aplasia/Hypoplasia of the corpus callosum Plagiocephaly Holoprosencephaly Hypoplasia of the radius Epiphyseal dysplasia Knee flexion contracture Short humerus Abnormality of immune system physiology Congenital hip dislocation Polymicrogyria Bradycardia Preauricular skin tag Encephalocele Brain atrophy IgG deficiency High palate Generalized muscle weakness Abnormal cerebellum morphology Retinal detachment Micrognathia Microretrognathia Depressed nasal bridge Pigmentary retinopathy Abnormality of retinal pigmentation Split hand Recurrent otitis media Progressive neurologic deterioration Hypertrichosis Thick lower lip vermilion Intellectual disability, profound Asthma Elbow flexion contracture Tetraplegia Delayed eruption of teeth Neurodegeneration Retinopathy Hepatosplenomegaly Osteopenia Rod-cone dystrophy Severe short stature Hoarse voice Exercise intolerance Kyphosis Obstructive sleep apnea Retinoschisis Tracheobronchomalacia Cervical cord compression Urinary glycosaminoglycan excretion Heparan sulfate excretion in urine Retinal fold Intestinal pseudo-obstruction Dysostosis multiplex Papilledema Intellectual disability, progressive Scaphocephaly Abnormal heart valve morphology Mild short stature Incoordination Sleep apnea Corneal dystrophy Widely spaced teeth Aortic regurgitation Inguinal hernia Splenomegaly Dysphagia Short palm Short palpebral fissure Oligohydramnios Intestinal malrotation Full cheeks Abdominal distention Downturned corners of mouth Hirsutism Narrow chest Wide anterior fontanel Blepharophimosis Postnatal growth retardation Telecanthus Respiratory failure Clinodactyly Abnormality of cardiovascular system morphology Syndactyly Short nose Large fontanelles Narrow palpebral fissure Hepatomegaly Tracheal stenosis Laryngeal hypoplasia Bronchomalacia Anotia Extramedullary hematopoiesis Entropion Redundant neck skin Abnormality of the larynx Cleft soft palate Pierre-Robin sequence Sparse eyelashes Double outlet right ventricle Tracheomalacia Anteriorly placed anus Bilateral cryptorchidism Neonatal respiratory distress Proximal placement of thumb Abnormality of the genitourinary system Sandal gap Scrotal hypoplasia Abnormal autonomic nervous system physiology Hypocalcemia Decreased activity of the pyruvate dehydrogenase complex Wide mouth Obesity Absent speech Long philtrum Hypertonia Wide nasal bridge Nonketotic hyperglycinemia Hyperglycinemia Delayed myelination Cerebral edema Profound global developmental delay Poor suck Leukodystrophy Increased serum lactate Sleep disturbance Lactic acidosis Bifid uvula Dandy-Walker malformation Myoclonus Posteriorly rotated ears Growth hormone deficiency Webbed neck Ichthyosis Joint laxity High forehead Hyperactivity Prominent forehead Short stature Ventricular hypertrophy Skull asymmetry Periorbital fullness Severe failure to thrive Protruding tongue Cutis marmorata Failure to thrive in infancy Short chin Left ventricular hypertrophy Acidosis Encephalopathy Sparse scalp hair Abnormal myocardium morphology Hypoplasia of the retina Increased mitochondrial number Histiocytoid cardiomyopathy Decreased activity of mitochondrial complex I Abnormal atrioventricular conduction Skeletal myopathy Peters anomaly Left ventricular noncompaction Proximal muscle weakness Supraventricular tachycardia Congenital glaucoma Ventricular fibrillation Ventricular tachycardia Cardiac arrest Sudden cardiac death Hepatic steatosis Acute tubular necrosis Myalgia Cerebral atrophy Gowers sign Reduced muscle fiber merosin Muscle fiber hypertrophy Moderately reduced ejection fraction Fatty replacement of skeletal muscle Abnormal glycosylation Neck flexor weakness Motor deterioration Limb-girdle muscular dystrophy Hyperlordosis Infantile muscular hypotonia Reduced tendon reflexes Scapular winging Frequent falls Lumbar hyperlordosis Waddling gait Tachycardia Falls Eczema Long eyelashes Progressive microcephaly Axonal degeneration Multiple myeloma Restrictive cardiomyopathy Increased CSF protein Syringomyelia Amyloidosis Decreased number of peripheral myelinated nerve fibers Orthostatic hypotension Aphasia Constrictive median neuropathy Malnutrition Impotence Cerebral hemorrhage Rheumatoid arthritis Cachexia Atrioventricular block Spastic paraparesis Stroke-like episode Abnormal renal physiology Vasculitis Recurrent respiratory infections Rhizomelia Limb undergrowth Decreased antibody level in blood Sepsis Short philtrum Skeletal dysplasia Micropenis Midface retrusion Sensory ataxia Immunodeficiency Blindness Amyloid deposition in the vitreous humor Cardiac amyloidosis Vitreous floaters Orthostatic hypotension due to autonomic dysfunction Psychomotor deterioration Urinary retention Paraparesis Hallucinations Hyperpigmentation of the skin Loose anagen hair Tremor Fever Dysarthria Peripheral neuropathy Pain Nystagmus Ataxia Small posterior fossa Headache Slow-growing hair Deep palmar crease Megalencephaly Arnold-Chiari type I malformation Redundant skin Nasal speech Relative macrocephaly Renal insufficiency Constipation Hemiparesis Coma Bilateral sensorineural hearing impairment Peripheral demyelination Neuronal loss in central nervous system Hypotension Migraine Urinary incontinence Gliosis Polyneuropathy Dementia Nephropathy Peripheral axonal neuropathy Paresthesia Paraplegia Malabsorption Facial palsy Arthritis Weight loss Dermatan sulfate excretion in urine



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