Cardiomyopathy, and Hypopigmentation of the skin

Diseases related with Cardiomyopathy and Hypopigmentation of the skin

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


Top matches:

Low match COL4A1-RELATED FAMILIAL VASCULAR LEUKOENCEPHALOPATHY


COL4A1-related familial vascular leukoencephalopathy is a rare, genetic, neurological disease characterized by the presence of fragile small-vessel intracerebral vasculature in various members of a single family, manifesting, clinically, with single or recurrent hemorrhagic and/or ischemic stroke and, frequently, ocular and renal involvement. Neuroimaging reveals diffuse, periventricular leukoencephalopathy associated with dilated perivascular spaces, lacunar infarction and microhemorrhages.

COL4A1-RELATED FAMILIAL VASCULAR LEUKOENCEPHALOPATHY Is also known as col4a1-related brain small vessel disease with hemorrhage|leukoencephalopathy with axenfeld-rieger anomaly|brain small vessel disease with axenfeld-rieger anomaly|brain small vessel disease with hemorrhage|infantile hemiparesis|retinal arteriolar tortuosi

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about COL4A1-RELATED FAMILIAL VASCULAR LEUKOENCEPHALOPATHY

Low match HERMANSKY-PUDLAK SYNDROME 1; HPS1


Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder in which oculocutaneous albinism, bleeding, and lysosomal ceroid storage result from defects of multiple cytoplasmic organelles: melanosomes, platelet-dense granules, and lysosomes (Oh et al., 1998). Genetic Heterogeneity of Hermansky-Pudlak SyndromeHPS2 (OMIM ) is caused by mutation in the AP3B1 gene (OMIM ) on chromosome 5q14. HPS3 (OMIM ) is caused by mutation in the HSP3 gene (OMIM ) on chromosome 3q24. HPS4 (OMIM ) is caused by mutation in the HSP4 gene (OMIM ) on chromosome 22q12. HPS5 (OMIM ) is caused by mutation in the HPS5 gene (OMIM ) on chromosome 11p14. HPS6 (OMIM ) is caused by mutation in the HPS6 gene (OMIM ) on chromosome 10q24. HPS7 (OMIM ) is caused by mutation in the DTNBP1 gene (OMIM ) on chromosome 6p22. HPS8 (OMIM ) is caused by mutation in the BLOC1S3 gene (OMIM ) on chromosome 19q13. HPS9 (OMIM ) is caused by mutation in the PLDN gene (OMIM ) on chromosome 15q21. HPS10 (OMIM ) is caused by mutation in the AP3D1 gene (OMIM ) on chromosome 19p13.

HERMANSKY-PUDLAK SYNDROME 1; HPS1 Is also known as delta storage pool disease|albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells

Related symptoms:

  • Nystagmus
  • Strabismus
  • Cataract
  • Visual impairment
  • Myopia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about HERMANSKY-PUDLAK SYNDROME 1; HPS1

Low match LONG CHAIN 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY


Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) is a mitochondrial disorder of long chain fatty acid oxidation characterized in most patients by onset in infancy/ early childhood with hypoketotic hypoglycemia, metabolic acidosis, liver disease, hypotonia and frequently cardiac involvement with arrhythmias and/or cardiomyopathy.

LONG CHAIN 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY Is also known as lchad deficiency|long-chain 3-hydroxyacyl-coenzyme a dehydrogenase deficiency|lchadd

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about LONG CHAIN 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY

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Other less relevant matches:

Low match BLOOM SYNDROME


Bloom syndrome (BSyn) is a rare chromosomal breakage syndrome characterized by a marked genetic instability associated with pre- and postnatal growth retardation, facial sun-sensitive telangiectatic erythema, increased susceptibility to infections, and predisposition to cancer.

BLOOM SYNDROME Is also known as bls|microcephaly, growth restriction, and increased sister chromatid exchange 1|bs|bsyn|mgrisce1

Related symptoms:

  • Short stature
  • Microcephaly
  • Growth delay
  • Neoplasm
  • Failure to thrive


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about BLOOM SYNDROME

Low match MICROPHTHALMIA WITH LINEAR SKIN DEFECTS SYNDROME


MIDAS syndrome (Microphthalmia, Dermal Aplasia, and Sclerocornea), also called microphthalmia with linear skin defects syndrome, is characterized by ocular defects (microphthalmia, orbital cysts, corneal opacities) and linear skin dysplasia of the neck, head, and chin. It has been reported in less than 50 patients. Additional findings may include agenesis of corpus callosum, sclerocornea, chorioretinal abnormalities, hydrocephalus, seizures, intellectual deficit, and nail dystrophy. It is transmitted as an X-linked dominant trait with male lethality.

MICROPHTHALMIA WITH LINEAR SKIN DEFECTS SYNDROME Is also known as mls|midas syndrome|microphthalmia, dermal aplasia, and sclerocornea|microphthalmia-dermal aplasia-sclerocornea syndrome|mcops7|microphthalmia with linear skin defects|syndromic microphthalmia type 7|mls syndrome|microphthalmia, syndromic 7

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about MICROPHTHALMIA WITH LINEAR SKIN DEFECTS SYNDROME

Low match VICI SYNDROME


Vici syndrome is a very rare and severe congenital multisystem disorder characterized by the principal features of agenesis of the corpus callosum, cataracts, oculocutaneous hypopigmentation, cardiomyopathy and combined immunodeficiency.

VICI SYNDROME Is also known as immunodeficiency with cleft lip/palate, cataract, hypopigmentation, and absent corpus callosum|corpus callosum agenesis-cataract-immunodeficiency syndrome|dionisi-vici-sabetta-gambarara syndrome

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about VICI SYNDROME

Low match HEMOCHROMATOSIS TYPE 3


Type 3 hemochromatosis is a form of rare hereditary hemochromatosis (HH) (see this term), a group of diseases characterized by excessive tissue iron deposition of genetic origin.

HEMOCHROMATOSIS TYPE 3 Is also known as tfr2-related hemochromatosis|hemochromatosis due to defect in transferrin receptor 2

Related symptoms:

  • Pain
  • Anemia
  • Fatigue
  • Cardiomyopathy
  • Abdominal pain


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about HEMOCHROMATOSIS TYPE 3

Low match LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3; LSDMCA3


LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3; LSDMCA3 Is also known as linear skin defects with cardiomyopathy and other congenital anomalies

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3; LSDMCA3

Low match YUNIS-VARON SYNDROME


Yunis-Varon syndrome is a severe autosomal recessive disorder characterized by skeletal defects, including cleidocranial dysplasia and digital anomalies, and severe neurologic involvement with neuronal loss. Enlarged cytoplasmic vacuoles are found in neurons, muscle, and cartilage. The disorder is usually lethal in infancy (summary by Campeau et al., 2013).

YUNIS-VARON SYNDROME Is also known as cleidocranial dysplasia with micrognathia, absent thumbs, and distal aphalangia|cleidocranial dysplasia-micrognathia-absent thumbs syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about YUNIS-VARON SYNDROME

Low match GLUCOCORTICOID DEFICIENCY 4 WITH OR WITHOUT MINERALOCORTICOID DEFICIENCY; GCCD4


Familial glucocorticoid deficiency is a rare autosomal recessive disorder characterized by an inability of the adrenal cortex to produce cortisol in response to stimulation by adrenocorticotropic hormone (ACTH). Affected individuals typically present within the first few months of life with symptoms related to cortisol deficiency, including failure to thrive, recurrent illnesses or infections, hypoglycemia, convulsions, and shock. The disease is life-threatening if untreated (summary by Meimaridou et al., 2012).For a discussion of genetic heterogeneity of familial glucocorticoid deficiency, see GCCD1 (OMIM ).

Related symptoms:

  • Seizures
  • Neoplasm
  • Failure to thrive
  • Cryptorchidism
  • Cardiomyopathy


SOURCES: OMIM MENDELIAN

More info about GLUCOCORTICOID DEFICIENCY 4 WITH OR WITHOUT MINERALOCORTICOID DEFICIENCY; GCCD4

Top 5 symptoms//phenotypes associated to Cardiomyopathy and Hypopigmentation of the skin

Symptoms // Phenotype % cases
Failure to thrive Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Hypertrophic cardiomyopathy Uncommon - Between 30% and 50% cases
Growth delay Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Microcephaly Cataract Agenesis of corpus callosum Hearing impairment Short stature Dilated cardiomyopathy Feeding difficulties Microphthalmia Muscular hypotonia Nystagmus Myopia Generalized hypotonia Intellectual disability Micrognathia Abnormal facial shape Intrauterine growth retardation Amblyopia Postnatal growth retardation Syndactyly Ocular albinism Cryptorchidism Abnormality of retinal pigmentation Immunodeficiency Respiratory distress Abdominal pain Neutropenia Recurrent infections Albinism Hyperpigmentation of the skin Hypospadias Strabismus Sclerocornea Tachycardia Cerebellar hypoplasia

Rare Symptoms - Less than 30% cases


Abnormality of metabolism/homeostasis High, narrow palate Vomiting Congestive heart failure Severe failure to thrive Visual loss Hypoglycemia Elevated hepatic transaminase Abnormality of the liver Cerebellar vermis hypoplasia Severe global developmental delay Macrocephaly Muscular hypotonia of the trunk Myopathy Coma Hepatomegaly Peripheral neuropathy Hypertension Anteverted nares Pain Histiocytoid cardiomyopathy Ventriculomegaly Depressed nasal bridge Hypertelorism Hypopigmentation of hair Pulmonary fibrosis Retinal dystrophy Decreased liver function Pigmentary retinopathy Skin rash Hydrocephalus Ventricular septal defect Abnormal heart morphology Respiratory failure Sensorineural hearing impairment IgG deficiency Hypopigmented skin patches Sacral dimple Azoospermia Cafe-au-lait spot Specific learning disability Decreased antibody level in blood Abnormality of dental enamel Erythema Lymphopenia Protruding ear Severe short stature Recurrent respiratory infections Pneumonia Micropenis Abnormal cardiac septum morphology Anemia Wide nose Neoplasm Clitoral hypertrophy Ventricular fibrillation Low-set ears Atrial septal defect Dolichocephaly High palate Dyspnea Dilatation Blindness Hypopigmentation of the fundus Congenital cataract Photophobia Glaucoma Supraventricular tachycardia Retinopathy Elevated serum creatine phosphokinase Posterior embryotoxon Congenital glaucoma Corneal opacity Fatigue Visual impairment Anorexia Astigmatism Intellectual disability, mild Cerebellar atrophy Aspiration pneumonia Narrow nasal base Abnormality of immune system physiology Abnormal cortical gyration Chronic mucocutaneous candidiasis Optic neuropathy Hypoplasia of the pons Precocious puberty Aplasia/Hypoplasia of the scapulae Severe sensorineural hearing impairment Fair hair Hypotension Aplasia/Hypoplasia of the proximal phalanx of the hallux Aplasia of the distal phalanges of the hand Aplasia/hypoplasia of the 1st metatarsal Aplasia of the distal phalanx of the hallux Recurrent viral infections Depressed nasal tip Shock Dehydration Hypothyroidism Renal tubular dysfunction Inverted nipples Hypoplasia of the thymus Schizencephaly Penile hypospadias Immunoglobulin IgG2 deficiency Tapered toe Abnormal parietal bone morphology Abnormality of the occipital bone Ureteral atresia Aplasia/Hypoplasia of the macula Decreased T cell activation Cutaneous anergy Abnormal immunoglobulin level Frontoparietal polymicrogyria Abnormal macular morphology Cellular immunodeficiency Muscle flaccidity Abnormality of dental structure Abnormality of the cerebellar vermis Abnormality of the thymus Abnormality of the optic disc Recurrent aspiration pneumonia Decreased proportion of CD4-positive T cells Abnormality of the mandible Pontocerebellar atrophy Granulocytopenia Abnormal posturing Recurrent fungal infections Renal tubular acidosis Congenital sensorineural hearing impairment Centrally nucleated skeletal muscle fibers EEG abnormality Sleep disturbance Primary adrenal insufficiency Thick vermilion border Pulmonary hypoplasia Polymicrogyria Cleft upper lip Joint stiffness Respiratory tract infection Feeding difficulties in infancy Cleft lip Renal salt wasting Coarse facial features Sepsis Acidosis Cerebral cortical atrophy Rod-cone dystrophy Long philtrum Hypertonia Increased circulating renin level Optic atrophy Hyperreflexia Epicanthus Hypoglycemic coma Motor delay Triangular face Delayed myelination Bronchitis Recurrent bacterial infections Macular atrophy Hyponatremia Neurodevelopmental delay Combined immunodeficiency Severe T-cell immunodeficiency Poor suck Adducted thumb Infantile muscular hypotonia Apathy Aplasia/Hypoplasia of the corpus callosum Leukopenia Increased body weight Narrow forehead Adrenal insufficiency Aspiration Hyperkalemia Progressive microcephaly Decreased body weight Left ventricular hypertrophy Heterotopia Open mouth Progressive neurologic deterioration Congenital hypothyroidism Ventricular hypertrophy Hypotelorism Abnormal pelvis bone morphology Cirrhosis White matter neuronal heterotopia Generalized neonatal hypotonia Premature loss of primary teeth Bilateral microphthalmos Small earlobe Aplastic clavicle Congenital microcephaly Short chin Arrhinencephaly Wide cranial sutures Increased nuchal translucency Short upper lip Short ribs Short toe Aplasia/Hypoplasia of the nipples Sparse and thin eyebrow Short thumb Aplasia/Hypoplasia of the middle phalanges of the hand Hydrops fetalis Short phalanx of finger Large fontanelles Multiple skeletal anomalies Pachygyria Sparse scalp hair Hypoplasia of the frontal lobes Small nail Renovascular hypertension Absent nipple Redundant neck skin Pulmonary arterial hypertension Metatarsus adductus Aplasia/Hypoplasia of the thumb Abnormality of blood and blood-forming tissues Thin ribs Glossoptosis Severe hearing impairment Abnormality of digit Absent thumb Short finger Aplasia/Hypoplasia of the eyebrow Abnormality of finger Anonychia Flared metaphysis Short middle phalanx of finger Abnormality of the neck Hypoplastic labia majora Rocker bottom foot Absent eyebrow Abnormality of dental morphology Sparse eyebrow Pyloric stenosis Abnormality of the urinary system Abnormality of pelvic girdle bone morphology Tented upper lip vermilion Sparse eyelashes Hypoplastic scapulae Decreased skull ossification Renal artery stenosis Cardiomegaly Acute bronchitis Aplasia of the 1st metacarpal Abnormality of the skeletal system Hyperpigmented streaks Broad secondary alveolar ridge Lacrimal duct atresia Cavum septum pellucidum Absent sternal ossification Bilateral external ear deformity Dilation of lateral ventricles Pericardial effusion Ventricular tachycardia Aplasia/Hypoplasia of the hallux Slender long bones with narrow diaphyses Severe muscular hypotonia Edema Cardiac arrest Increased serum iron Increased serum ferritin Impotence Shortening of all distal phalanges of the toes Purpura Hypogonadotrophic hypogonadism Amenorrhea Short proximal phalanx of hallux Short clavicles Arthritis Arthralgia Hypoplasia of the corpus callosum Generalized hypotrichosis Tetralogy of Fallot Sparse hair Neuronal loss in central nervous system Dandy-Walker malformation Premature birth Hypodontia Tapered finger Single transverse palmar crease Aplasia/Hypoplasia of the distal phalanges of the hand Toe syndactyly Hypotrichosis Hip dislocation Microtia Short philtrum Abnormality of the pinna Abnormality of the scapula Irritability Thin upper lip vermilion Macrotia High forehead Polyhydramnios Proptosis Narrow mouth Upslanted palpebral fissure Aplasia/Hypoplasia of the nails Hypoplastic facial bones Aplasia/Hypoplasia of the clavicles Gingival recession Thin vermilion border Abnormality of the nail Ptosis Iris hypopigmentation Freckles in sun-exposed areas Menometrorrhagia Partial albinism Squamous cell carcinoma of the skin Impaired platelet aggregation Abnormal thrombocyte morphology Ulcerative colitis Abnormality of the optic nerve Hematochezia Abnormality of visual evoked potentials Gingival bleeding Severe vision loss Freckling Nyctalopia Colitis Prolonged bleeding time Restrictive ventilatory defect Basal cell carcinoma Inflammation of the large intestine Melanocytic nevus Melanoma Acanthosis nigricans Abnormality of the hair Long eyelashes Thickened skin Abnormal lung morphology Jaundice Peripheral axonal neuropathy Epidermal acanthosis Multiple lipomas Elevated plasma acylcarnitine levels Gastrointestinal inflammation Abnormal chorioretinal morphology Hepatic encephalopathy Abnormal left ventricle morphology Decreased plasma carnitine Reduced consciousness/confusion Cholestatic liver disease Hypoketotic hypoglycemia Recurrent hypoglycemia Preeclampsia Rhabdomyolysis Chorioretinal atrophy Nausea Loss of consciousness Abnormal electroretinogram Tachypnea Hypocalcemia Sensorimotor neuropathy Exotropia Peripheral demyelination Brain atrophy Polyneuropathy Metabolic acidosis Hepatic steatosis Hepatic failure Epistaxis Gastrointestinal hemorrhage Reye syndrome-like episodes Renal cyst Cerebral hemorrhage Hemiplegia Intracranial hemorrhage Dysphonia Leukoencephalopathy Spastic paraparesis Paraparesis Hemiparesis Spastic tetraplegia Migraine Tetraplegia Muscle cramps Microcornea Scotoma Retinal detachment Nephropathy Hematuria Hypermetropia Abnormality of the cerebral white matter Stroke Facial palsy Abnormality of the nervous system Dementia Depressivity Headache Dysarthria Blurred vision Infantile spasms Nevus Optic neuritis Abnormal bleeding Bruising susceptibility Malabsorption Weight loss Hyperkeratosis Renal insufficiency Thalamic hemorrhage Posterior leukoencephalopathy Retinal arterial tortuosity Right hemiplegia Peripapillary atrophy Retinal arteriolar tortuosity Diffuse leukoencephalopathy Hypoplasia of the iris Perivascular spaces Polycoria Rieger anomaly Arterial tortuosity Neuritis Retinal hemorrhage Migraine with aura Porencephalic cyst Anterior synechiae of the anterior chamber Anterior segment developmental abnormality Corneal neovascularization Ectopia pupillae Increased intraocular pressure Acute hepatic steatosis Posterior staphyloma Spasticity Anophthalmia Abnormal eyelash morphology Anencephaly Aplasia cutis congenita Anteriorly placed anus Absent septum pellucidum Aplasia/Hypoplasia of the skin Abnormality of the ear Hypoplasia of the uterus Dysphasia Aphasia Preauricular pit Tricuspid regurgitation Patent foramen ovale Abnormal eyelid morphology Dermal atrophy Mutism Intellectual disability, progressive Mitral regurgitation Status epilepticus Congenital diaphragmatic hernia Ambiguous genitalia Mitral valve prolapse Iris coloboma Abnormality of skin pigmentation Anal atresia Nail dystrophy Male pseudohermaphroditism Retinal dysplasia Blepharophimosis Functional motor deficit Cleft palate Muscle weakness Anal fistula Asymmetric, linear skin defects Cleft earlobe Abnormality of the rectum Vitritis Orbital cyst Chorioretinal dysplasia Abnormal vitreous humor morphology Abnormality of the fallopian tube Arteria lusoria Ovotestis Echolalia Abnormality of the penis Mandibular aplasia Overriding aorta Abnormality of the anus Tricuspid valve prolapse Abnormal nasolacrimal system morphology Epispadias Abnormality of earlobe Chordee Periventricular leukomalacia Colpocephaly Abnormality of the testis Coloboma Retrognathia Decreased activity of 3-hydroxyacyl-CoA dehydrogenase Infertility Sinusitis Telangiectasia Bronchiectasis Abnormality of the face Hypertrichosis Cutaneous photosensitivity Type II diabetes mellitus Otitis media Abnormality of the skin Prominent nose Lymphoma Ichthyosis Leukemia Reduced number of teeth Finger syndactyly Polydactyly Diabetes mellitus Hyperhidrosis Clinodactyly of the 5th finger Delayed skeletal maturation Malar flattening Short nose Abnormality of the dentition Diarrhea 3-hydroxydicarboxylic aciduria Abnormality of acid-base homeostasis Narrow face Hand polydactyly Hypogonadism Abnormality of chromosome stability Arrhythmia Hernia Midface retrusion Abnormality of cardiovascular system morphology Wide nasal bridge Facial telangiectasia in butterfly midface distribution Agenesis of maxillary lateral incisor Neoplasm of the gastrointestinal tract Spotty hyperpigmentation Spotty hypopigmentation Female infertility Decreased fertility in females IgM deficiency Squamous cell carcinoma Abnormality of the nose Chronic obstructive pulmonary disease Chronic lung disease Hypoplastic pelvis Chromosome breakage Hypoplasia of the zygomatic bone Acute leukemia Hodgkin lymphoma IgA deficiency Acute myeloid leukemia Myeloid leukemia Telangiectasia of the skin High pitched voice Hypernatriuria



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