Congestive heart failure, and Umbilical hernia

Diseases related with Congestive heart failure and Umbilical hernia

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


Top matches:

High match JUVENILE POLYPOSIS SYNDROME; JPS


Juvenile polyposis syndrome is an autosomal dominant condition that predisposes gene carriers to various types of tumors. The diagnosis is based on the occurrence of hamartomatous gastrointestinal polyps that turn into malignant lesions in approximately 20% of cases (Handra-Luca et al., 2005).It had been suggested that juvenile polyposis can be caused by mutations in the PTEN gene (OMIM ), the same gene that is mutant in Cowden syndrome-1 (OMIM ). In a comprehensive review of PTEN, Waite and Eng (2002) concluded that juvenile intestinal polyposis is not a so-called PTEN hamartoma-tumor syndrome (PHTS). They suggested that the discovery of the germline PTEN mutation in an individual considered to have JPS should raise a suspicion that the clinical diagnosis is incorrect and that such an individual should be managed medically in the same manner as all patients with PHTS.

JUVENILE POLYPOSIS SYNDROME; JPS Is also known as polyposis, juvenile intestinal|pji|jip|juvenile intestinal polyposis|polyposis, familial, of entire gastrointestinal tract

Related symptoms:

  • Seizures
  • Neoplasm
  • Failure to thrive
  • Pain
  • Cryptorchidism


SOURCES: OMIM MENDELIAN

More info about JUVENILE POLYPOSIS SYNDROME; JPS

High match ADAMS-OLIVER SYNDROME 5; AOS5


Adams-Oliver syndrome (AOS) is a rare developmental disorder defined by the combination of aplasia cutis congenita of the scalp vertex and terminal transverse limb defects (e.g., amputations, syndactyly, brachydactyly, or oligodactyly). In addition, vascular anomalies such as cutis marmorata telangiectatica congenita, pulmonary hypertension, portal hypertension, and retinal hypervascularization are recurrently seen. Congenital heart defects have been estimated to be present in 20% of AOS patients; reported malformations include ventricular septal defects, anomalies of the great arteries and their valves, and tetralogy of Fallot (summary by Stittrich et al., 2014).For a discussion of genetic heterogeneity of Adams-Oliver syndrome, see AOS1 (OMIM ).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Muscle weakness
  • Motor delay


SOURCES: OMIM MENDELIAN

More info about ADAMS-OLIVER SYNDROME 5; AOS5

High match LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1; CGL1


Congenital generalized lipodystrophy (CGL), or Berardinelli-Seip syndrome, is a rare autosomal recessive disease characterized by a near absence of adipose tissue from birth or early infancy and severe insulin resistance. Other clinical and biologic features include acanthosis nigricans, muscular hypertrophy, hepatomegaly, altered glucose tolerance or diabetes mellitus, and hypertriglyceridemia (Garg, 2004). Genetic Heterogeneity of Congenital Generalized LipodystrophyCongenital generalized lipodystrophy type 2 (OMIM ) is caused by mutation in the BSCL2 gene (OMIM ). Congenital generalized lipodystrophy type 3 (OMIM ) is caused by mutation in the CAV1 gene (OMIM ). Congenital generalized lipodystrophy type 4 (OMIM ) is caused by mutation in the PTRF gene (OMIM ).

LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1; CGL1 Is also known as berardinelli-seip congenital lipodystrophy, type 1|lipodystrophy, berardinelli-seip congenital, type 1|brunzell syndrome, agpat2-related|bscl1

Related symptoms:

  • Intellectual disability
  • Cognitive impairment
  • Hypertension
  • Peripheral neuropathy
  • Hepatomegaly


SOURCES: OMIM MENDELIAN

More info about LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1; CGL1

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Other less relevant matches:

High match AUTOSOMAL RECESSIVE SPONDYLOCOSTAL DYSOSTOSIS


Autosomal recessive spondylocostal dysostosis (ARSD) is a rare condition of variable severity associated with vertebral and rib segmentation defects and characterised by a short neck with limited mobility, winged scapulae, a short trunk, and short stature with multiple vertebral anomalies at all levels of the spine.

AUTOSOMAL RECESSIVE SPONDYLOCOSTAL DYSOSTOSIS Is also known as vertebral anomalies|jarcho-levin syndrome|spondylothoracic dysplasia|spondylothoracic dysostosis|costovertebral dysplasia

Related symptoms:

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Scoliosis
  • Cleft palate


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE SPONDYLOCOSTAL DYSOSTOSIS

High match AARSKOG-SCOTT SYNDROME


Aarskog-Scott syndrome (AAS) is a rare developmental disorder characterized by facial, limbs and genital features, and a disproportionate acromelic short stature.

AARSKOG-SCOTT SYNDROME Is also known as aarskog syndrome|faciodigitogenital syndrome|faciogenital dysplasia

Related symptoms:

  • Short stature
  • Hypertelorism
  • Strabismus
  • Cleft palate
  • Cryptorchidism


SOURCES: ORPHANET MENDELIAN

More info about AARSKOG-SCOTT SYNDROME

High match AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 1


Autosomal recessive cutis laxa, type 1 (ARCL1) is a generalized connective tissue disorder characterized by the association of wrinkled, redundant and sagging inelastic skin with severe systemic manifestations (lung atelectesias and emphysema, vascular anomalies, and gastrointestinal and genitourinary tract diverticuli).

AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 1 Is also known as arcl1|autosomal recessive cutis laxa with severe systemic involvement|cutis laxa, autosomal recessive|autosomal recessive cutis laxa, pulmonary emphysema type

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Sensorineural hearing impairment


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 1

High match 3MC SYNDROME 3; 3MC3


The term '3MC syndrome' encompasses 4 rare autosomal recessive disorders that were previously designated the Carnevale, Mingarelli, Malpuech, and Michels syndromes, respectively. The main features of these syndromes are facial dysmorphism that includes hypertelorism, blepharophimosis, blepharoptosis, and highly arched eyebrows, which are present in 70 to 95% of cases. Cleft lip and palate, postnatal growth deficiency, cognitive impairment, and hearing loss are also consistent findings, occurring in 40 to 68% of cases. Craniosynostosis, radioulnar synostosis, and genital and vesicorenal anomalies occur in 20 to 30% of cases. Rare features include anterior chamber defects, cardiac anomalies, caudal appendage, umbilical hernia (omphalocele), and diastasis recti (summary by Rooryck et al., 2011).For a discussion of genetic heterogeneity of 3MC syndrome, see 3MC1 (OMIM ).

3MC SYNDROME 3; 3MC3 Is also known as malpuech facial clefting syndrome, formerly|facial clefting syndrome, gypsy type

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about 3MC SYNDROME 3; 3MC3

High match MULTIPLE BENIGN CIRCUMFERENTIAL SKIN CREASES ON LIMBS


Congenital symmetric circumferential skin creases is characterized by the folding of excess skin, which leads to ringed creases, primarily of the limbs. Affected individuals also exhibit intellectual disability, cleft palate, and dysmorphic features (summary by Isrie et al., 2015). Genetic Heterogeneity of Congenital Symmetric Circumferential Skin CreasesCSCSC2 (OMIM ) is caused by mutation in the MAPRE2 gene (OMIM ) on chromosome 18q12.

MULTIPLE BENIGN CIRCUMFERENTIAL SKIN CREASES ON LIMBS Is also known as congenital circumferential skin folds|skin creases, multiple benign ring-shaped, of limbs|kunze-riehm syndrome|ccsf|circumferential skin creases, kunze type|michelin tire baby syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MULTIPLE BENIGN CIRCUMFERENTIAL SKIN CREASES ON LIMBS

High match MUCOPOLYSACCHARIDOSIS TYPE 2, ATTENUATED FORM


Mucopolysaccharidosis type 2, attenuated form (MPS2att), the less severe form of MPS2 (see this term), leads to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive facies, short stature, cardiorespiratory and skeletal findings. It is differentiated from mucopolysaccharidosis type 2, severe form (see this term) by the absence of cognitive decline.

MUCOPOLYSACCHARIDOSIS TYPE 2, ATTENUATED FORM Is also known as iduronate 2-sulfatase deficiency type b|mucopolysaccharidosis type ii, attenuated form|mucopolysaccharidosis type iib|mps2b|mpsiib|hunter syndrome type b|mucopolysaccharidosis type 2b

Related symptoms:

  • Short stature
  • Sensorineural hearing impairment
  • Hepatomegaly
  • Wide nasal bridge
  • Macrocephaly


SOURCES: ORPHANET MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS TYPE 2, ATTENUATED FORM

High match TMEM70-RELATED MITOCHONDRIAL ENCEPHALO-CARDIO-MYOPATHY


Mitochondrial encephalo-cardio-myopathy due to TMEM70 mutation is characterized by early neonatal onset of hypotonia, hypetrophic cardiomyopathy and apneic spells within hours after birth accompanied by lactic acidosis, hyperammonemia and 3-methylglutaconic aciduria.

TMEM70-RELATED MITOCHONDRIAL ENCEPHALO-CARDIO-MYOPATHY Is also known as encephalocardiomyopathy, mitochondrial, neonatal, due to atp synthase deficiency|mitochondrial encephalo-cardio-myopathy due to f1fo atpase deficiency|mitochondrial encephalo-cardio-myopathy due to isolated mitochondrial respiratory chain complex v defici

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about TMEM70-RELATED MITOCHONDRIAL ENCEPHALO-CARDIO-MYOPATHY

Top 5 symptoms//phenotypes associated to Congestive heart failure and Umbilical hernia

Symptoms // Phenotype % cases
Inguinal hernia Common - Between 50% and 80% cases
Hernia Common - Between 50% and 80% cases
Cryptorchidism Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Hypertension Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Hypospadias Intellectual disability Global developmental delay Microcephaly Wide nasal bridge Abnormal facial shape Seizures Cleft palate Short neck Long philtrum Scoliosis Hypertelorism Pectus excavatum Abnormal heart morphology Full cheeks Epicanthus Ptosis Congenital diaphragmatic hernia Low-set ears Low-set, posteriorly rotated ears Cognitive impairment Anteverted nares Intellectual disability, mild Camptodactyly of finger Abnormality of cardiovascular system morphology Hepatomegaly Generalized hypotonia Macrocephaly Hearing impairment Shawl scrotum

Rare Symptoms - Less than 30% cases


Abnormality of the pinna Conductive hearing impairment Hypertrichosis Intellectual disability, moderate Wormian bones Telecanthus Thickened skin Abnormality of the face Edema Respiratory distress Micrognathia Hyperammonemia Growth delay Abnormality of the kidney Recurrent respiratory infections Preaxial polydactyly Stroke Mandibular prognathia Broad forehead Finger syndactyly Dilatation Arrhythmia Cardiomyopathy Scrotal hypoplasia Respiratory insufficiency Sensorineural hearing impairment Cutis laxa Hirsutism Respiratory failure Blepharophimosis Postnatal growth retardation Hypertrophic cardiomyopathy Pulmonary arterial hypertension Hepatosplenomegaly Splenomegaly Clubbing of fingers Small hand Oral cleft Cleft upper lip Talipes Joint hyperflexibility Hamartoma Failure to thrive Epiphyseal dysplasia Motor delay Ventricular septal defect Anemia Oligohydramnios Depressed nasal bridge External ear malformation Abnormality of the skin Pulmonic stenosis Severe global developmental delay Encephalopathy Broad foot Attention deficit hyperactivity disorder Portal hypertension Intrauterine growth retardation Flat face Supernumerary nipple Bilateral cleft lip and palate Radioulnar synostosis Epicanthus inversus Skin dimples Bilateral conductive hearing impairment Irregular vertebral endplates Diastasis recti Bifid scrotum Short 5th finger Recurrent urinary tract infections Facial cleft Elbow dislocation Bilateral cleft lip Bilateral sensorineural hearing impairment Prematurely aged appearance Abnormality of the genitourinary system Progressive sensorineural hearing impairment Emphysema Supravalvular aortic stenosis Delayed cranial suture closure Congenital hemolytic anemia Vascular tortuosity Dermal translucency Ascending tubular aorta aneurysm Bowel diverticulosis Arterial stenosis Ileus Bladder diverticulum Cor pulmonale Atelectasis Premature skin wrinkling Arterial fibromuscular dysplasia Renal diverticulum Shock Pulmonary artery stenosis Redundant skin Spontaneous abortion Omphalocele Renal agenesis Highly arched eyebrow Craniosynostosis Cleft lip Caudal appendage Muscular hypotonia of the trunk Micropenis Patent ductus arteriosus Clinodactyly Depressivity Aortic aneurysm Penoscrotal hypospadias Short palpebral fissure Urethral valve Abnormality of mucopolysaccharide metabolism Muscular hypotonia Ataxia Ridged cranial sutures Abnormality of the Eustachian tube Abnormality of nasopharyngeal adenoids Restricted chest movement Incisional hernia Recurrent upper and lower respiratory tract infections Tonsillitis Dermatan sulfate excretion in urine Functional motor deficit Flexion contracture Heparan sulfate excretion in urine Obstructive lung disease Thenar muscle atrophy Expressive language delay Flared nostrils Mucopolysacchariduria Wrist flexion contracture Thoracolumbar kyphosis Abnormality of the skull Papilledema Cataract Tremor Rhinitis Intention tremor Gastroparesis Hyperalaninemia 3-Methylglutaconic aciduria Moderate global developmental delay Abnormal aortic valve morphology Flat occiput Encephalitis Aplasia/Hypoplasia of the corpus callosum Leukoencephalopathy Microretrognathia Interphalangeal joint contracture of finger Cerebellar atrophy Aciduria Increased serum lactate Premature birth Lactic acidosis Small for gestational age Short philtrum Wide mouth Neonatal hypotonia Retrognathia Acidosis Cerebral cortical atrophy Protuberant abdomen Abnormal heart valve morphology Prominent coccyx Nevus Long fingers Overlapping toe Tricuspid regurgitation Overfolded helix Optic nerve hypoplasia Generalized hirsutism Hypoplasia of dental enamel Dandy-Walker malformation Febrile seizures Wide intermamillary distance Microcornea Cerebellar vermis atrophy Microtia Retinopathy High forehead Narrow mouth Brachycephaly Upslanted palpebral fissure Posteriorly rotated ears Microphthalmia Hypoplasia of the corpus callosum Delayed speech and language development High palate Abnormality of the musculature Neuroblastoma Short finger Pectus carinatum Bowel incontinence Multiple joint contractures Prominent supraorbital ridges Widely spaced teeth Hoarse voice Osteoarthritis Abnormality of the cardiovascular system Otitis media Prominent nose Urinary incontinence Coarse facial features Hypoplastic nipples Frontal bossing Gait disturbance Localized neuroblastoma Increased number of skin folds Abnormality of the scrotum Upper limb asymmetry Median cleft palate Broad eyebrow Periorbital fullness Lower limb asymmetry Irregular hyperpigmentation Overgrowth Clinodactyly of the 5th finger Vesicoureteral reflux Progressive proximal muscle weakness Cavernous hemangioma Aplasia cutis congenita of scalp Right ventricular failure Esophageal varix Prominent superficial veins Calcinosis Dystrophic toenail Right ventricular hypertrophy Oligodactyly Portal vein thrombosis Aplasia cutis congenita Spastic diplegia Abnormality of the coagulation cascade Cutis marmorata Patent foramen ovale Ischemic stroke Small nail Ventricular hypertrophy Hypersplenism Prominent scalp veins Hip dysplasia Hepatic steatosis Insulin resistance Nephrolithiasis Tall stature Abnormality of the genital system Hypertriglyceridemia Epidermal acanthosis Triangular face Nephropathy Cirrhosis Cutis marmorata telangiectatica congenita Autoimmunity Elevated hepatic transaminase Macrotia Diabetes mellitus Hyperhidrosis Peripheral neuropathy Right atrial enlargement Calcinosis cutis Chronic hepatic failure Coarctation of aorta Ascites Acanthosis nigricans Chest pain Clubbing Hypoalbuminemia Hypokalemia Diplopia Telangiectasia Epistaxis Cyanosis Gastrointestinal hemorrhage Vertigo Polycythemia Cough Carcinoma Jaundice Dyspnea Abdominal pain Headache Diarrhea Fatigue Pain Colon cancer Hemoptysis Hepatic failure Hepatic vascular malformations Abnormality of the cerebral white matter Abnormal cardiac septum morphology Proximal muscle weakness Hyperactivity Syndactyly Myopathy Brachydactyly Muscle weakness Adenocarcinoma of the colon Hematochezia Duodenal adenocarcinoma Multiple gastric polyps Intussusception Melena Hematemesis Hamartomatous polyposis Stomach cancer Rectal prolapse Intestinal polyposis Accelerated skeletal maturation Hyperlipidemia Recurrent fractures Abnormality of the intervertebral disk Behavioral abnormality Abnormality of the dentition Downslanted palpebral fissures Strabismus Rib segmentation abnormalities Abnormality of the odontoid process Block vertebrae Cervical C2/C3 vertebral fusion Urogenital fistula Pes planus Abnormality of female internal genitalia Anomalous pulmonary venous return Rib fusion Disproportionate short-trunk short stature Meningocele Double outlet right ventricle Abnormality of the ureter Abnormality of immune system physiology Neoplasm Short palm Prominent occiput Abnormality of the cervical spine Hemolytic anemia Arachnodactyly Hip dislocation Joint laxity Arthralgia Hypothyroidism Osteoporosis Abnormal vertebral segmentation and fusion High anterior hairline Everted lower lip vermilion Genu recurvatum Megalocornea Broad palm Hyperextensible skin Round face Hypoplasia of the maxilla Delayed eruption of teeth Single transverse palmar crease Short foot Vertebral segmentation defect Short thorax Polycystic ovaries Oligomenorrhea Decreased fertility in females Generalized lipodystrophy Acute pancreatitis Glioma Bone cyst Abnormality of the ovary Angina pectoris Long foot Abnormality of lipid metabolism Decreased serum leptin Insulin-resistant diabetes mellitus Lipoatrophy Polyphagia High pitched voice Skeletal muscle hypertrophy Large hands Clitoral hypertrophy Lipodystrophy Hyperinsulinemia Congenital generalized lipodystrophy Prominent umbilicus Abnormality of the urinary system Respiratory tract infection Spina bifida occulta Scapular winging Hemivertebrae Spina bifida Abnormal vertebral morphology Abnormal form of the vertebral bodies Abnormality of the ribs Confusion Hyperlordosis Insulin-resistant diabetes mellitus at puberty Kyphoscoliosis Polydactyly Severe short stature Kyphosis Atrial septal defect Generalized muscular appearance from birth Labial hypertrophy Cystic angiomatosis of bone Reduced intrathoracic adipose tissue Abnormal pulmonary valve morphology



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