Congestive heart failure, and Cutaneous photosensitivity

Diseases related with Congestive heart failure and Cutaneous photosensitivity

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


Top matches:

Medium match SINGLETON-MERTEN DYSPLASIA


Singleton-Merten dysplasia is characterized by dental dysplasia, progressive calcification of the thoracic aorta with stenosis, osteoporosis and expansion of the marrow cavities in hand bones. Additional features included generalized muscle weakness and atrophy, and chronic psoriasiform skin eruptions. It has been reported in four unrelated patients (male and female) and in a family with multiple affected members (male).

SINGLETON-MERTEN DYSPLASIA Is also known as singleton-merten syndrome

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Growth delay
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about SINGLETON-MERTEN DYSPLASIA

Medium match PRADER-WILLI SYNDROME; PWS


Prader-Willi syndrome is characterized by diminished fetal activity, obesity, muscular hypotonia, mental retardation, short stature, hypogonadotropic hypogonadism, and small hands and feet. It can be considered to be an autosomal dominant disorder and is caused by deletion or disruption of a gene or several genes on the proximal long arm of the paternal chromosome 15 or maternal uniparental disomy 15, because the gene(s) on the maternal chromosome(s) 15 are virtually inactive through imprinting. Horsthemke and Wagstaff (2008) provided a detailed review of the mechanisms of imprinting of the Prader-Willi/Angelman syndrome (OMIM ) region.See also the chromosome 15q11-q13 duplication syndrome (OMIM ), which shows overlapping clinical features.

PRADER-WILLI SYNDROME; PWS Is also known as prader-labhart-willi syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about PRADER-WILLI SYNDROME; PWS

Low match EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 10; EJM10


Juvenile myoclonic epilepsy-10 is an autosomal dominant seizure disorder with variable manifestations, even within families. Affected individuals have febrile, myoclonic, tonic-clonic, or absence seizures, although several seizure types can occur in the same individual. The age of onset also shows great variability: some patients present in the first years of life, whereas other have onset of seizures in teenage years. EEG typically shows 3.5 to 5 Hz polyspike wave discharges. There is evidence of incomplete penetrance (summary by Bailey et al., 2018).For a general phenotypic description and a discussion of genetic heterogeneity of juvenile myoclonic epilepsy, see {254770}.

Related symptoms:

  • Seizures
  • Generalized myoclonic seizures
  • Febrile seizures
  • Cutaneous photosensitivity
  • Absence seizures


SOURCES: OMIM MENDELIAN

More info about EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 10; EJM10

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Other less relevant matches:

Low match EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13; EIG13


Childhood absence epilepsy and juvenile myoclonic epilepsy are both subtypes of what has classically been called idiopathic generalized epilepsy (IGE, EIG; see {600669}).For a phenotypic description and a discussion of genetic heterogeneity of idiopathic generalized epilepsy, see {600669}.For a phenotypic description and a discussion of genetic heterogeneity of juvenile myoclonic epilepsy and childhood absence epilepsy, see ECA1 (OMIM ) and JME (OMIM ), respectively.

Related symptoms:

  • Seizures
  • Generalized tonic-clonic seizures
  • Febrile seizures
  • Cutaneous photosensitivity
  • Absence seizures


SOURCES: OMIM MESH MENDELIAN

More info about EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13; EIG13

Low match AUTOSOMAL ERYTHROPOIETIC PROTOPORPHYRIA


Erythropoietic protoporphyria (EPP) is an inherited disorder of the heme metabolic pathway characterized by accumulation of protoporphyrin in blood, erythrocytes and tissues, and cutaneous manifestations of photosensitivity.

AUTOSOMAL ERYTHROPOIETIC PROTOPORPHYRIA Is also known as epp

Related symptoms:

  • Edema
  • Erythema
  • Pruritus
  • Cirrhosis
  • Eczema


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL ERYTHROPOIETIC PROTOPORPHYRIA

Low match VEIN OF GALEN ANEURYSMAL MALFORMATION


Vein of Galen aneurysmal malformation (VGAM) is a congenital vascular malformation characterized by dilation of the embryonic precursor of the vein of Galen. It is a sporadic lesion that occurs during embryogenesis.

VEIN OF GALEN ANEURYSMAL MALFORMATION Is also known as vein of galen arteriovenous malformations

Related symptoms:

  • Congestive heart failure
  • Headache
  • Dilatation
  • Abnormality of the cerebral vasculature
  • Prominent superficial veins


SOURCES: MESH ORPHANET MENDELIAN

More info about VEIN OF GALEN ANEURYSMAL MALFORMATION

Low match ATRIOVENTRICULAR SEPTAL DEFECT 3; AVSD3


Related symptoms:

  • Hypertension
  • Congestive heart failure
  • Cyanosis
  • Pulmonary arterial hypertension
  • First degree atrioventricular block


SOURCES: OMIM MENDELIAN

More info about ATRIOVENTRICULAR SEPTAL DEFECT 3; AVSD3

Low match PARKES WEBER SYNDROME


Related symptoms:

  • Congestive heart failure
  • Headache
  • Glaucoma
  • Abnormal bleeding
  • Hemiparesis


SOURCES: ORPHANET MENDELIAN

More info about PARKES WEBER SYNDROME

Low match CARDIOMYOPATHY-HYPOTONIA-LACTIC ACIDOSIS SYNDROME


Cardiomyopathy-hypotonia-lactic acidosis syndrome is characterised by hypertrophic cardiomyopathy, muscular hypotonia and the presence of lactic acidosis at birth. It has been described in two sisters (both of whom died within the first year of life) from a nonconsanguineous Turkish family. The syndrome is caused by a homozygous point mutation in the exon 3A of the SLC25A3 gene encoding a mitochondrial membrane transporter.

CARDIOMYOPATHY-HYPOTONIA-LACTIC ACIDOSIS SYNDROME Is also known as mpcd

Related symptoms:

  • Generalized hypotonia
  • Failure to thrive
  • Muscular hypotonia
  • Respiratory insufficiency
  • Respiratory distress


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about CARDIOMYOPATHY-HYPOTONIA-LACTIC ACIDOSIS SYNDROME

Low match CONGENITAL DYSERYTHROPOIETIC ANEMIA TYPE II


Congenital dyserythropoietic anemia type II (CDA II) is the most common form of CDA (see this term) characterized by anemia, jaundice and splenomegaly and often leading to liver iron overload and gallstones.

CONGENITAL DYSERYTHROPOIETIC ANEMIA TYPE II Is also known as dyserythropoietic anemia, congenital, type ii|cda ii|sec23b-cdg|hempas|hereditary erythroblastic multinuclearity with positive acidified-serum test|cda type ii|cda type 2|hereditary erythroblastic multinuclearity with a positive acidified-serum test (hemp

Related symptoms:

  • Anemia
  • Hepatomegaly
  • Congestive heart failure
  • Splenomegaly
  • Arrhythmia


SOURCES: ORPHANET OMIM MENDELIAN

More info about CONGENITAL DYSERYTHROPOIETIC ANEMIA TYPE II

Top 5 symptoms//phenotypes associated to Congestive heart failure and Cutaneous photosensitivity

Symptoms // Phenotype % cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Febrile seizures Uncommon - Between 30% and 50% cases
Muscular hypotonia Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Hypertension Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Rare Symptoms - Less than 30% cases


Global developmental delay Aortic valve stenosis Cyanosis Peripheral arteriovenous fistula Failure to thrive Headache Edema Cirrhosis Absence seizures Carious teeth Myopathy Dilatation Leukemia Pruritus Short stature Genu valgum Cholelithiasis Anemia Glaucoma Recurrent respiratory infections Arrhythmia Abnormality of the dentition Abnormal facial shape Talipes equinovarus Osteoporosis Growth delay Thin upper lip vermilion Myopia Osteopenia Frontal upsweep of hair Hypoplasia of the fovea Hypoventilation Iris hypopigmentation Temperature instability Abnormality of lipid metabolism Central hypotonia Overweight Oligomenorrhea Acrocyanosis Ocular albinism Chromosome breakage Erysipelas Hypothermia Generalized hypopigmentation Cor pulmonale Triangular mouth Abdominal obesity Poor fine motor coordination Disseminated intravascular coagulation Anteverted ears Clitoral hypoplasia Increased red cell osmotic fragility Anemia of inadequate production Hypopigmentation of hair Emotional lability Narrow palpebral fissure Bicuspid aortic valve Sleep apnea Scrotal hypoplasia Infantile muscular hypotonia Poor suck Nasal speech Failure to thrive in infancy Precocious puberty Hyperinsulinemia Radial deviation of finger Endopolyploidy on chromosome studies of bone marrow Large hands Pulmonary embolism Inflammation of the large intestine Glucose intolerance Albinism Skeletal muscle hypertrophy Adrenal insufficiency Decreased muscle mass Truncal obesity External genital hypoplasia Polyphagia Narrow nasal bridge Myeloid leukemia Impaired pain sensation Central adrenal insufficiency Striae distensae Almond-shaped palpebral fissure Hypoplastic labia minora Metabolic acidosis Nevus flammeus Varicose veins Vascular skin abnormality Hypertrophy of the lower limb Hypertrophy of the upper limb Respiratory insufficiency Respiratory distress Cardiomyopathy Acidosis Hypertrophic cardiomyopathy Lactic acidosis Increased serum lactate Hemiparesis Severe muscular hypotonia Abnormality of the mitochondrion Abnormal mitochondrial shape Low-output congestive heart failure Hepatomegaly Splenomegaly Jaundice Hepatosplenomegaly Abnormality of the liver Hyperbilirubinemia Prolonged neonatal jaundice Reticulocytosis Telangiectasia of the skin Abnormal bleeding Psychotic episodes Hypogonadotrophic hypogonadism Narrow palm Hypopnea Gout Poor gross motor coordination Increased hemoglobin Acromicria Generalized myoclonic seizures Generalized tonic-clonic seizures Erythema Eczema Decreased liver function Microcytic anemia Inlet ventricular septal defect Abnormality of the heme biosynthetic pathway Increased total bilirubin Abnormality of the cerebral vasculature Prominent superficial veins Congenital hypoplastic anemia Increased head circumference Vein of Galen aneurysmal malformation Chronic myelogenous leukemia Pulmonary arterial hypertension First degree atrioventricular block Primum atrial septal defect Midsystolic murmur Spontaneous abortion Growth hormone deficiency Increased body weight Scoliosis Mitral valve calcification Premature loss of permanent teeth Unerupted tooth Dentinogenesis imperfecta limited to primary teeth Tendon rupture Hypoplasia of the tooth germ Aortic arch calcification Expanded metatarsals with widened medullary cavities Hypoplastic distal radial epiphyses Expanded metacarpals with widened medullary cavities Expanded phalanges with widened medullary cavities Intellectual disability Nystagmus Aortic valve calcification Neoplasm Micrognathia Strabismus Pain Cryptorchidism Cognitive impairment High palate Feeding difficulties Delayed speech and language development Motor delay Depressed nasal bridge Epicanthus Hip subluxation Shallow acetabular fossae Intrauterine growth retardation Waddling gait Muscle weakness Ptosis Skeletal muscle atrophy Recurrent infections Visual loss Pes cavus Joint laxity Broad forehead Hip dislocation Smooth philtrum Hypoplasia of the maxilla Generalized muscle weakness Cardiomegaly Muscle fiber atrophy Decreased body weight Coxa valga Osteolysis Scaling skin Psoriasiform dermatitis Epiphora Heart block Periodontitis High anterior hairline Osteolytic defects of the phalanges of the hand Onycholysis Subvalvular aortic stenosis Fever Ventriculomegaly Bradycardia Gastrointestinal hemorrhage Infertility Arachnodactyly Polymicrogyria Short palm Downturned corners of mouth Small hand Short foot Tapered finger Sleep disturbance Hypopigmentation of the skin Sepsis Full cheeks Esotropia Hypermetropia Hip dysplasia Specific learning disability Amenorrhea Abnormality of the cardiovascular system Narrow forehead Oligohydramnios Decreased fetal movement Type II diabetes mellitus Psychosis Primary amenorrhea Clumsiness Insulin resistance Delayed puberty Dolichocephaly Intellectual disability, severe Diabetes mellitus Vomiting Behavioral abnormality Intellectual disability, mild Kyphosis Short nose Syndactyly Obesity Clinodactyly Hyporeflexia Prominent forehead Upslanted palpebral fissure Hypogonadism Hyperactivity Stroke Respiratory failure Micropenis Weight loss Autism Narrow mouth Photophobia Hypoglycemia Neonatal hypotonia Abnormality of the nervous system Apnea Abnormality of the pinna Respiratory tract infection Attention deficit hyperactivity disorder Reduced activity of N-acetylglucosaminyltransferase II



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