Cardiomyopathy, and Hypospadias

Diseases related with Cardiomyopathy and Hypospadias

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


Top matches:

Low match CONGENITAL DYSERYTHROPOIETIC ANEMIA TYPE IV


Congenital dyserythropoietic anemia type IV (CDA IV) is a newly discovered form of CDA (see this term) characterized by ineffective erythropoiesis and hemolysis that leads to severe anemia at birth.

CONGENITAL DYSERYTHROPOIETIC ANEMIA TYPE IV Is also known as cda, type iv|cda type 4|congenital dyserythropoietic anemia due to klf1 mutation|cda iv|cdan4|congenital dyserythropoietic anemia type 4|cda type iv|cda due to klf1 mutation

Related symptoms:

  • Short stature
  • Hypertelorism
  • Anemia
  • Hepatomegaly
  • Cardiomyopathy


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL DYSERYTHROPOIETIC ANEMIA TYPE IV

Low match DILATED CARDIOMYOPATHY WITH ATAXIA


Dilated cardiomyopathy with ataxia (DCMA) is characterized by severe early onset (before the age of three years) dilated cardiomyopathy (DCM) with conduction defects (long QT syndrome), non-progressive cerebellar ataxia, testicular dysgenesis, and 3-methylglutaconic aciduria.

DILATED CARDIOMYOPATHY WITH ATAXIA Is also known as mga5|dcma|3-methylglutaconic aciduria type 5|cardiomyopathy, dilated, with ataxia|mga, type v|dcma syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Ataxia
  • Growth delay
  • Failure to thrive


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about DILATED CARDIOMYOPATHY WITH ATAXIA

Low match WAGR SYNDROME


WAGR syndrome (Wilms tumor - aniridia - genitourinary anomalies - intellectual disability mental retardation) is a rare genetic disorder characterized by an unusual complex of congenital developmental abnormalities with intellectual disability, and an increased risk of developing Wilms tumor.

WAGR SYNDROME Is also known as del(11)(p13)|chromosome 11p13 deletion syndrome|wilms tumor-aniridia-genitourinary anomalies-intellectual disability syndrome|monosomy 11p13|deletion 11p13|wagr syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Scoliosis
  • Nystagmus


SOURCES: OMIM ORPHANET MENDELIAN

More info about WAGR SYNDROME

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Other less relevant matches:

Low match PENOSCROTAL TRANSPOSITION


Penoscrotal transposition (PST) is a rare congenital genital anomaly in which the scrotum is positioned superior and anterior to the penis. PST may present with a broad spectrum of anomalies ranging from simple shawl scrotum (doughnut scrotum) to very complex extreme transposition with craniofacial, central nervous system, cardiac, gastrointestinal, urological, and other genital (undescended testicles, hypospadias, chordee) malformations. Growth deficiency and intellectual disability may also be noticed (60% of cases).

PENOSCROTAL TRANSPOSITION Is also known as dihydrotestosterone receptor deficiency|testicular feminization syndrome|androgen receptor deficiency|dhtr deficiency|ar deficiency|tfm

Related symptoms:

  • Intellectual disability
  • Neoplasm
  • Micrognathia
  • Cryptorchidism
  • Epicanthus


SOURCES: OMIM ORPHANET MENDELIAN

More info about PENOSCROTAL TRANSPOSITION

Low match CONGENITAL LACTIC ACIDOSIS, SAGUENAY-LAC-SAINT-JEAN TYPE


Saguenay-Lac-St. Jean (SLSJ) type congenital lactic acidosis, a French Canadian form of Leigh syndrome (see this term), is a mitochondrial disease characterized by chronic metabolic acidosis, hypotonia, facial dysmorphism and delayed development.

CONGENITAL LACTIC ACIDOSIS, SAGUENAY-LAC-SAINT-JEAN TYPE Is also known as cytochrome oxidase deficiency, saguenay-lac-saint-jean type|cytochrome c oxidase deficiency, french canadian type|cytochrome c oxidase deficiency, french-canadian type|cox deficiency, french canadian type|leigh syndrome, french-canadian type|slsj-cox defi

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about CONGENITAL LACTIC ACIDOSIS, SAGUENAY-LAC-SAINT-JEAN TYPE

Low match MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1; MC5DN1


A distinct group of inborn defects of complex V (ATP synthase) is represented by the enzyme deficiency due to nuclear genome mutations characterized by a selective inhibition of ATP synthase biogenesis. Biochemically, the patients show a generalized decrease in the content of ATP synthase complex which is less than 30% of normal. Most cases present with neonatal-onset hypotonia, lactic acidosis, hyperammonemia, hypertrophic cardiomyopathy, and 3-methylglutaconic aciduria. Many patients die within a few months or years (summary by Mayr et al., 2010). Genetic Heterogeneity of Mitochondrial Complex V DeficiencyOther nuclear types of mitochondrial complex V deficiency include MC5DN2 (OMIM ), caused by mutation in the TMEM70 gene (OMIM ) on chromosome 8q21; MC5DN3 (OMIM ), caused by mutation in the ATP5E gene (ATP5F1E ) on chromosome 20q13; MC5DN4 (OMIM ), caused by mutation in the ATP5A1 gene (ATP5FA1 ) on chromosome 18q; and MC5DN5 (OMIM ), caused by mutation in the ATP5D gene (ATP5F1D ) on chromosome 19p13.Mutations in the mitochondrial-encoded MTATP6 (OMIM ) and MTATP8 (OMIM ) genes can also cause mitochondrial complex V deficiency (see, e.g., {551500} and {500003}).

MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1; MC5DN1 Is also known as mitochondrial complex v (atp synthase) deficiency, atpaf2 type

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1; MC5DN1

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 8P23.1 MICRODELETION SYNDROME


8p23.1 deletion involves a partial deletion of the short arm of chromosome 8 characterized by low birth weight, postnatal growth deficiency, mild intellectual deficit, hyperactivity, craniofacial abnormalities, and congenital heart defects.

8P23.1 MICRODELETION SYNDROME Is also known as del(8)(p23.1)|monosomy 8p23.1

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Growth delay


SOURCES: ORPHANET MESH MENDELIAN

More info about 8P23.1 MICRODELETION SYNDROME

Low match COMPLEX LETHAL OSTEOCHONDRODYSPLASIA


Complex lethal osteochondrodysplasia of the Symoens-Barnes-Gistelinck type is characterized by severe skeletal osteopenia, microcephaly, multiple fractures, and congenital anomalies including ascites, pleural effusion, and intracranial ventriculomegaly (Symoens et al., 2015).

COMPLEX LETHAL OSTEOCHONDRODYSPLASIA Is also known as complex lethal osteochondrodysplasia, symoens-barnes-gistelinck type

Related symptoms:

  • Microcephaly
  • Growth delay
  • Hypertelorism
  • Micrognathia
  • Cleft palate


SOURCES: ORPHANET OMIM MENDELIAN

More info about COMPLEX LETHAL OSTEOCHONDRODYSPLASIA

Low 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 Cardiomyopathy and Hypospadias

Symptoms // Phenotype % cases
Hypertrophic cardiomyopathy Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
Cryptorchidism Common - Between 50% and 80% cases
Micrognathia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Seizures Failure to thrive Wide nasal bridge Growth delay Short stature Intellectual disability Generalized hypotonia Abnormality of the genital system Muscular hypotonia Intrauterine growth retardation Ataxia Low-set ears Micropenis Flexion contracture Anteverted nares Hepatomegaly Abnormal facial shape Aciduria Acidosis Lactic acidosis Short philtrum Obesity Increased serum lactate Congestive heart failure Hypertelorism 3-Methylglutaconic aciduria

Rare Symptoms - Less than 30% cases


Short femur Epicanthus Short neck Small for gestational age Inguinal hernia Strabismus Cerebral cortical atrophy Wide intermamillary distance Flat face Short nose Metabolic acidosis Tremor Hyperammonemia Oligohydramnios Prominent nasal bridge Wide mouth Retrognathia Abnormality of cardiovascular system morphology Respiratory insufficiency Hypertension Intellectual disability, mild Feeding difficulties Leukoencephalopathy Intention tremor Limb undergrowth Prominent forehead Cerebellar hypoplasia Midface retrusion Ambiguous genitalia Cardiomegaly Neoplasm Anemia Microvesicular hepatic steatosis Edema Hydrops fetalis Perineal hypospadias Arrhythmia Hepatic steatosis Hypoglycemia Cataract Adducted thumb Progressive microcephaly Intellectual disability, moderate Sepsis Rhizomelia Abnormality of the kidney Decreased antibody level in blood Severe global developmental delay Hypocalcemia Sandal gap Neonatal hypotonia Umbilical hernia Premature birth Respiratory failure Scrotal hypoplasia Encephalopathy Hypoplasia of the radius Epiphyseal dysplasia Long philtrum Short humerus Cerebellar atrophy Abnormality of immune system physiology Camptodactyly of finger Skeletal dysplasia Respiratory tract infection Pulmonary arterial hypertension Cardiac arrest Gastroparesis Spontaneous abortion Hyperalaninemia Severe muscular hypotonia Moderate global developmental delay Abnormal aortic valve morphology Flat occiput Encephalitis Aplasia/Hypoplasia of the corpus callosum Microretrognathia Rocker bottom foot Abnormality of the pinna Severe failure to thrive Severe lactic acidosis Hearing impairment Sensorineural hearing impairment Cognitive impairment Talipes equinovarus Hydrocephalus Blindness Immunodeficiency Interphalangeal joint contracture of finger Recurrent respiratory infections Fractured radius Decreased fibular diameter Beaded ribs Multiple rib fractures Polyhydramnios Aortic valve stenosis Decreased skull ossification Pulmonary artery stenosis Single umbilical artery Broad hallux phalanx Abnormal aortic morphology Enlarged thorax Cleft palate Ventricular septal defect Ventriculomegaly Posteriorly rotated ears Brachycephaly Osteopenia Transposition of the great arteries Hydronephrosis Telecanthus Cleft lip Thoracic hypoplasia Platyspondyly Flared metaphysis Pulmonary hypoplasia Pleural effusion Recurrent fractures Ascites Webbed neck Short ribs Wormian bones Biparietal narrowing Atrioventricular canal defect Disproportionate short-limb short stature Upslanted palpebral fissure IgG deficiency Short tibia Large fleshy ears Prolonged partial thromboplastin time Generalized edema Butterfly vertebrae High palate Downslanted palpebral fissures Multiple prenatal fractures Behavioral abnormality Unilateral cleft lip Patent ductus arteriosus Weight loss Hypoplastic left heart High forehead Pes planus Deeply set eye Abnormal cardiac septum morphology Attention deficit hyperactivity disorder Poor speech Thin vermilion border Tapered finger Full cheeks Tetralogy of Fallot Congenital diaphragmatic hernia Broad thumb Proximal placement of thumb External ear malformation Broad-based gait Renal hypoplasia Hearing abnormality Renal insufficiency Microphthalmia Glaucoma Corneal opacity Leukemia Nephropathy Everted lower lip vermilion Microcornea Abnormality of the genitourinary system Nephroblastoma Aniridia Acute lymphoblastic leukemia Renal neoplasm Ptosis Hemihypertrophy Abnormality of the uterus Gonadoblastoma Peters anomaly Abnormal vagina morphology Aplasia/Hypoplasia of the iris Streak ovary Displacement of the external urethral meatus Dysfunction of lateral corticospinal tracts Hernia Clinodactyly of the 5th finger Pectus carinatum Visual impairment Nystagmus Primary amenorrhea Postnatal growth retardation Splenomegaly Wide anterior fontanel Hyperbilirubinemia Reticulocytosis Anemia of inadequate production Fetal distress Normochromic anemia Congenital hypoplastic anemia Erythroid hyperplasia Muscle weakness Motor delay Optic atrophy Dilated cardiomyopathy Scoliosis Sudden cardiac death Decreased testicular size Mitral regurgitation Prolonged QT interval Hypokinesia Microcytic anemia Nonprogressive cerebellar ataxia Glutaric aciduria Testicular dysgenesis Noncompaction cardiomyopathy 3-Methylglutaric aciduria Penile hypospadias Normochromic microcytic anemia Renal agenesis Renal dysplasia Pulmonic stenosis Truncal ataxia Dystonia Malar flattening Absent speech Developmental regression Stroke Hirsutism Highly arched eyebrow Coma Gliosis Peripheral demyelination Decreased liver function Low anterior hairline Shock Dysphagia Tachypnea Poor suck Hyperglycemia Anteriorly placed anus Increased CSF lactate Stroke-like episode Breathing dysregulation CNS demyelination Congenital lactic acidosis Increased hepatocellular lipid droplets Frontal bossing Abnormal heart morphology Camptodactyly Respiratory distress Delayed speech and language development Gynecomastia Patellar aplasia Bilateral single transverse palmar creases Growth abnormality Bifid scrotum Diabetes insipidus Prominent occiput Abnormality of the ureter Shawl scrotum Male pseudohermaphroditism Sparse axillary hair Sparse pubic hair Labial hypoplasia Elevated circulating follicle stimulating hormone level Menstrual irregularities Scrotal hypospadias Aplasia of the uterus Elevated circulating luteinizing hormone level Pseudohypoparathyroidism Dimple chin Nephrogenic diabetes insipidus Abnormality of the urethra Penoscrotal hypospadias Abnormal external genitalia Female external genitalia in individual with 46,XY karyotype Absent facial hair Blind vagina Penoscrotal transposition Incomplete male pseudohermaphroditism Abnormal pulmonary valve morphology



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Feeding difficulties and Rigidity, related diseases and genetic alterations Autoimmunity and Joint laxity, related diseases and genetic alterations Hyperreflexia and Autoimmunity, related diseases and genetic alterations Hydrocephalus and Wide nasal bridge, related diseases and genetic alterations

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