Congestive heart failure, and Ichthyosis

Diseases related with Congestive heart failure and Ichthyosis

In the following list you will find some of the most common rare diseases related to Congestive heart failure and Ichthyosis that can help you solving undiagnosed cases.


Top matches:

Medium match CARVAJAL SYNDROME


Woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome is characterized by woolly hair, palmoplantar keratoderma and dilated cardiomyopathy principally affecting the left ventricle.

CARVAJAL SYNDROME Is also known as keratoderma with woolly hair type ii|palmoplantar keratoderma with left ventricular cardiomyopathy and woolly hair|woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome|wooly hair-palmoplantar hyperkeratosis-dilated cardiomyopathy syndrome|

Related symptoms:

  • Cardiomyopathy
  • Edema
  • Congestive heart failure
  • Hyperkeratosis
  • Dilated cardiomyopathy


SOURCES: OMIM ORPHANET MENDELIAN

More info about CARVAJAL SYNDROME

Medium match NEUTRAL LIPID STORAGE MYOPATHY


Neutral lipid storage disease with myopathy is an autosomal recessive muscle disorder characterized by adult onset of slowly progressive proximal muscle weakness affecting the upper and lower limbs and associated with increased serum creatine kinase; distal muscle weakness may also occur. About half of patients develop cardiomyopathy later in the disease course. Other variable features include diabetes mellitus, hepatic steatosis, hypertriglyceridemia, and possibly sensorineural hearing loss. Leukocytes and muscle cells show cytoplasmic accumulation of triglycerides (summary by Reilich et al., 2011).Neutral lipid storage disease with myopathy belongs to a group of disorders termed neutral lipid storage disorders (NLSDs). These disorders are characterized by the presence of triglyceride-containing cytoplasmic droplets in leukocytes and in other tissues, including bone marrow, skin, and muscle. Chanarin-Dorfman syndrome (CDS ) is defined as NLSD with ichthyosis (NLSDI). Patients with NLSDM present with myopathy but without ichthyosis (summary by Fischer et al., 2007).

NEUTRAL LIPID STORAGE MYOPATHY Is also known as neutral lipid storage disease with myopathy without ichthyosis|nlsdm|triglyceride deposit cardiomyovasculopathy|neutral lipid storage disease without ichthyosis

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Sensorineural hearing impairment
  • Muscle weakness


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEUTRAL LIPID STORAGE MYOPATHY

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Other less relevant matches:

Medium match PEROXISOME BIOGENESIS DISORDER 9B; PBD9B


While most patients of PBD complementation group 11 manifest rhizomelic chondrodysplasia punctata (RCDP1 ), a few have been reported with unusually mild phenotypes with longer survival, less neurologic involvement, normal or near-normal growth, and absence of rhizomelia (Braverman et al., 2002). In some cases this phenotype was indistinguishable from that of classic Refsum disease (OMIM ) and patients carried this diagnosis.Individuals with PBDs of complementation group 11 (CG11, equivalent to CGR) have mutations in the PEX7 gene. For information on the history of PBD complementation groups, see {214100}.

PEROXISOME BIOGENESIS DISORDER 9B; PBD9B Is also known as refsum disease, adult, 2|peroxisome biogenesis disorder, pex7-related, atypical

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 9B; PBD9B

Medium match REFSUM DISEASE, CLASSIC


Refsum disease is an autosomal recessive inborn error of lipid metabolism classically characterized by a tetrad of clinical abnormalities: retinitis pigmentosa, peripheral neuropathy, cerebellar ataxia, and elevated protein levels in the cerebrospinal fluid (CSF) without an increase in the number of cells. However, not all patients show all these features. All patients have accumulation of an unusual branched-chain fatty acid, phytanic acid, in blood and tissues. Other variable features include cardiac dysfunction, nerve deafness, ichthyosis, and multiple epiphyseal dysplasia (review by Skjeldal et al., 1987).Increased levels of phytanic acid can also be found in peroxisomal biogenesis disorders; see Zellweger syndrome (see {214100}) (Skjeldal et al., 1987).Infantile Refsum disease (see PBD1B, {601539}) is a distinct disorder with a different phenotype and genetic basis.A phenotype clinically indistinguishable from that of classic Refsum disease (PBD9B ), but with a different biochemical profile, can be caused by mutation in the gene encoding peroxin-7 (PEX7 ) on chromosome 6q.

REFSUM DISEASE, CLASSIC Is also known as heredopathia atactica polyneuritiformis|hmsn iv|phytanic acid oxidase deficiency|hereditary motor and sensory neuropathy iv|hmsn4|refsum disease, adult, 1

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about REFSUM DISEASE, CLASSIC

Medium match CEDNIK SYNDROME


CEDNIK syndrome is a neurocutaneaous syndrome characterized by severe developmental abnormalities of the nervous system and aberrant differentiation of the epidermis.

CEDNIK SYNDROME Is also known as cerebral dysgenesis-neuropathy-ichthyosis-palmoplantar keratoderma syndrome|cednik syndrome

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about CEDNIK SYNDROME

Medium match AUTOSOMAL DOMINANT EMERY-DREIFUSS MUSCULAR DYSTROPHY


EDMD is characterized by myopathic changes in certain skeletal muscles and early contractures at the neck, elbows, and Achilles tendons, as well as cardiac conduction defects. 'Classic' Emery-Dreifuss muscular dystrophy (EDMD1 ) is an X-linked disorder caused by mutation in the emerin gene (EMD ) on Xq28 (Emery, 1989).For a discussion of genetic heterogeneity of EDMD, see {310300}.

AUTOSOMAL DOMINANT EMERY-DREIFUSS MUSCULAR DYSTROPHY Is also known as scapuloilioperoneal atrophy with cardiopathy|emd2|muscular dystrophy, limb-girdle, type 1b, formerly|emery-dreifuss muscular dystrophy, autosomal dominant|edmd2|cardiomyopathy, dilated, with quadriceps myopathy|muscular dystrophy, proximal, type 1b, forme

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Muscular hypotonia


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT EMERY-DREIFUSS MUSCULAR DYSTROPHY

Low match DK1-CDG


DK1-CDG is characterised by muscular hypotonia and ichthyosis. It has been described in four children from two consanguineous families. All the affected children died during early infancy, two from dilated cardiomyopathy. The syndrome is caused by a deficiency in dolichol kinase 1 (DK1), an enzyme involved in the de novo biosynthesis of dolichol phosphate. The mutations identified in the DK1 gene led to a 96 to 98% reduction in DK activity.

DK1-CDG Is also known as cdg-im|cdg im|hypotonia and ichthyosis due to dolichol phosphate deficiency|cdg syndrome type im|congenital disorder of glycosylation type im|congenital disorder of glycosylation type 1m|cdgim|dk1 deficiency|cdg1m|carbohydrate deficient glycoprotein syndr

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Growth delay


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about DK1-CDG

Low match MEND SYNDROME


MEND syndrome is a rare, genetic, syndromic, sterol biosynthesis disorder affecting males characterized by skin manifestations, including collodion membrane, ichthyosis, and patchy hypopigmentary lesions, associated with severe neurological involvement (e.g. intellectual disability, delayed psychomotor development, seizures, hydrocephalus, cerebellar/corpus callosum hypoplasia, Dandy-Walker malformation, hypotonia) and craniofacial dysmorphism (large anterior fontanelle, telecanthus, hypertelorism, microphthalmia, prominent nasal bridge, low-set ears, micrognathia, cleft palate). 2,3 toe syndactyly, polydactyly, and kyphosis, as well as ophthalmic, cardiac and urogenital anomalies may also be associated.

MEND SYNDROME Is also known as male ebp disorder with neurologic defects|male ebp disorder with neurological defects

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MEND SYNDROME

Low match GAUCHER DISEASE TYPE 2


Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD; see this term). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2.

GAUCHER DISEASE TYPE 2 Is also known as infantile cerebral gaucher disease|acute neuronopathic gaucher disease

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about GAUCHER DISEASE TYPE 2

Top 5 symptoms//phenotypes associated to Congestive heart failure and Ichthyosis

Symptoms // Phenotype % cases
Cardiomyopathy Common - Between 50% and 80% cases
Arrhythmia Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Congestive heart failure and Ichthyosis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Ataxia Sensorineural hearing impairment Hearing impairment Short stature Failure to thrive Intellectual disability Dilated cardiomyopathy Elevated serum creatine phosphokinase Ventricular tachycardia Hepatomegaly Scoliosis Syncope Polyneuropathy Wide nasal bridge Muscular hypotonia Muscle weakness Elevated hepatic transaminase Pes cavus Peripheral neuropathy Flexion contracture Cataract Palmoplantar keratoderma Hyperkeratosis

Rare Symptoms - Less than 30% cases


Elevated levels of phytanic acid Abnormality of coagulation Sacral dimple Leukopenia Nystagmus Apnea Distal lower limb amyotrophy Anosmia Sensorimotor neuropathy Nyctalopia Skeletal dysplasia Rod-cone dystrophy Blindness Cognitive impairment Growth delay Ptosis Limb muscle weakness Neonatal hypotonia Cyanosis Cerebral cortical atrophy Splenomegaly Strabismus Hypertonia Polyhydramnios Edema Knee flexion contracture Abnormal bleeding Elbow flexion contracture Bradycardia Rigidity Dyspnea Midface retrusion Hypoglycemia Kyphosis High palate Progressive microcephaly Long face Abnormality of eye movement Prominent nasal bridge Agenesis of corpus callosum Progressive proximal muscle weakness Abnormal facial shape Aspiration Microcephaly Epiphyseal stippling Bilateral ptosis Hypoplasia of the corpus callosum Epileptic spasms Hypokinesia Myalgia Pain Palpitations Skeletal muscle atrophy Fatigue Abnormal atrioventricular conduction Myocardial fibrosis Obesity Woolly hair Areflexia Dilatation Difficulty walking Proximal muscle weakness Myopathy Fragile nails Hypertriglyceridemia Cardiomegaly Progressive muscle weakness Abnormal EKG Sudden cardiac death Waddling gait Reduced number of teeth Wide intermamillary distance Overlapping toe Overlapping fingers Narrow nose Long fingers Broad hallux Ectopic kidney Self-injurious behavior 2-3 toe syndactyly Dandy-Walker malformation Overfolded helix Microretrognathia Long neck Narrow palpebral fissure Aortic valve stenosis Narrow forehead Otosclerosis Recurrent respiratory infections Spotty hypopigmentation Fever Vomiting Respiratory distress Laryngeal stridor Orthopnea Diarrhea Dysphagia Intrauterine growth retardation Esotropia Hypoplastic aortic arch Motor delay Dystonia Thrombocytopenia Encephalopathy Delayed skeletal maturation Anemia Spasticity Olivopontocerebellar hypoplasia Limb hypertonia Abnormal cardiac septum morphology Hypopigmentation of the skin Aplasia of the fingers Abnormality of the skeletal system Brachydactyly Low-set ears Cardiac valve calcification Cryptorchidism Cleft palate Micrognathia Adactyly Ventricular septal defect Abnormal isoelectric focusing of serum transferrin Reduced antithrombin III activity Type I transferrin isoform profile Slowed horizontal saccades Aplasia/Hypoplasia of the nipples Congenital hepatic fibrosis Hypoketotic hypoglycemia Myocarditis Abnormal platelet aggregation Ventriculomegaly Single transverse palmar crease Aggressive behavior Thick vermilion border Wide nose Bulbous nose Smooth philtrum Toe syndactyly Myoclonus Low-set, posteriorly rotated ears Muscular hypotonia of the trunk Deeply set eye Hydrocephalus CSF pleocytosis Polydactyly Hyperactivity Posteriorly rotated ears Syndactyly Erlenmeyer flask deformity of the femurs Decreased beta-glucocerebrosidase protein and activity Hematological neoplasm Dementia Jaundice Abdominal pain Intracranial hemorrhage Congenital nonbullous ichthyosiform erythroderma Hyponatremia Multiple myeloma Ectropion Abnormality of the larynx Hypoxemia Abnormality of the thorax Portal hypertension Cholelithiasis Akinesia Poor suck Hyperammonemia Abnormality of the spleen Oculomotor apraxia Avascular necrosis of the capital femoral epiphysis Purpura Osteolysis Hyperbilirubinemia Clubbing Heart murmur Cardiac arrest Trismus Atrophy/Degeneration affecting the brainstem Hepatocellular carcinoma Poor eye contact Increased serum ferritin Aspiration pneumonia Fetal akinesia sequence Hypomagnesemia Bulbar signs Slow saccadic eye movements Athetosis Congenital ichthyosiform erythroderma Bulbar palsy Exertional dyspnea Interstitial pulmonary abnormality Nonimmune hydrops fetalis Petechiae Opisthotonus Menorrhagia Supranuclear gaze palsy Hypocalcemia Bone pain Giant cell hepatitis Irritability Cirrhosis Nausea Lymphadenopathy Ophthalmoplegia Lethargy Corneal opacity Cough Pallor Feeding difficulties in infancy Pulmonary hypoplasia Developmental regression Hepatosplenomegaly Protuberant abdomen Umbilical hernia Osteopenia Subcutaneous hemorrhage Spontaneous hematomas Gastroesophageal reflux Intestinal bleeding Hepatic failure Ascites Restrictive deficit on pulmonary function testing Progressive neurologic deterioration Microcytic anemia Generalized osteosclerosis Histiocytosis Anorexia Thickened skin Decreased body weight Abnormal pattern of respiration Cholestasis Eclabion Abducens palsy Pulmonary arterial hypertension Epistaxis Pancytopenia Decreased fetal movement Abnormality of the skin Hemophagocytosis Brain atrophy Generalized myoclonic seizures Axial dystonia Hydrops fetalis Supraventricular arrhythmia Lipoatrophy Hyporeflexia Increased CSF protein Epiphyseal dysplasia Progressive hearing impairment Leukodystrophy Pigmentary retinopathy Sensory impairment Renal cyst Retinal degeneration Delayed speech and language development Miosis Polyneuritis Calcific stippling Short 5th metacarpal Hammertoe Rhizomelia Progressive visual loss Congenital cataract Retinopathy Multiple epiphyseal dysplasia Abnormal renal physiology Autism Proteinuria Pachygyria Depressed nasal ridge Nephrotic syndrome Polymicrogyria Dolichocephaly Severe global developmental delay Stroke Abnormality of the eye Macrotia Short fourth metatarsal Hypogonadism Abnormality of the dentition Intellectual disability, severe Downslanted palpebral fissures Optic atrophy Depressed nasal bridge Hypertelorism Hyperoxaluria Autistic behavior Visual loss Intellectual disability, progressive Nail dystrophy Right bundle branch block Bundle branch block Loss of consciousness Absent eyebrow Oligodontia Chest pain Tachycardia Carious teeth Pruritus Agenesis of permanent teeth Erythema Mildly reduced ejection fraction Patchy palmoplantar keratoderma Cardiomyocyte hypertrophy Impaired myocardial contractility Congenital bullous ichthyosiform erythroderma Clubbing of fingers Skin vesicle Aplasia/Hypoplasia of the eyebrow Parakeratosis Increased muscle lipid content Insulin resistance Neck muscle weakness Difficulty running Gowers sign Psoriasiform dermatitis Easy fatigability Hyperlipidemia Exercise intolerance Fasciculations Hepatic steatosis Leukonychia Distal muscle weakness Diabetes mellitus Recurrent infections Agenesis of molar Gingival recession Reduced systolic function Selective tooth agenesis Right ventricular cardiomyopathy Short chin Poor head control Neurodevelopmental delay Proximal lower limb amyotrophy Type 1 muscle fiber atrophy Proximal upper limb amyotrophy Scapuloperoneal amyotrophy Ventricular escape rhythm Peroneal muscle weakness Left anterior fascicular block Limb-girdle muscle atrophy Proximal muscle weakness in upper limbs Peroneal muscle atrophy Decreased cervical spine flexion due to contractures of posterior cervical muscles Shoulder girdle muscle atrophy Atrial arrhythmia Increased LDL cholesterol concentration Proximal muscle weakness in lower limbs Distal lower limb muscle weakness Achilles tendon contracture Shoulder girdle muscle weakness Limb-girdle muscle weakness Proximal spinal muscular atrophy Restricted neck movement due to contractures Vocal cord paralysis Postnatal microcephaly Bilateral talipes equinovarus Hyperglycemia Ventricular fibrillation Erythroderma Severe muscular hypotonia Sparse eyelashes Recurrent pneumonia Sparse and thin eyebrow Thin skin Absent muscle fiber emerin Inflammatory abnormality of the skin Hypsarrhythmia Tetraplegia Neutropenia Dry skin Alopecia Absent speech Renal insufficiency Proximal amyotrophy Heart block Abnormality of vision Respiratory insufficiency Vertigo Lower limb muscle weakness Muscular dystrophy Joint stiffness Hyperlordosis Facial palsy Hypertrophic cardiomyopathy Pectus excavatum Gait disturbance Myocardial infarction Feeding difficulties Optic disc hypoplasia Diffuse palmoplantar keratoderma Perisylvian polymicrogyria Abnormal corpus callosum morphology Abnormality of peripheral nerve conduction Cortical dysplasia Palmoplantar hyperkeratosis Falls Atrial fibrillation Sprengel anomaly Congenital muscular dystrophy Ankle contracture Rimmed vacuoles Spinal rigidity Difficulty climbing stairs Mildly elevated creatine phosphokinase Calf muscle hypertrophy Toe walking Myotonia Spinal muscular atrophy Frequent falls Limb-girdle muscular dystrophy Lipodystrophy Back pain Atrioventricular block Ventricular arrhythmia EMG: myopathic abnormalities Reduced tendon reflexes Respiratory insufficiency due to muscle weakness Scapular winging EEG with temporal sharp waves



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