Cardiomyopathy, and Skeletal dysplasia

Diseases related with Cardiomyopathy and Skeletal dysplasia

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


Top matches:

Low 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

Low match HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6; CHNG6


Related symptoms:

  • Intellectual disability
  • Short stature
  • Growth delay
  • Hypertelorism
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6; CHNG6

Low match D-2-HYDROXYGLUTARIC ACIDURIA


D-2-hydroxyglutaric aciduria (D-2-HGA) is a rare clinically variable neurological form of 2-hydroxyglutaric aciduria (see this term) characterized biochemically by elevated D-2-hydroxyglutaric acid (D-2-HG) in the urine, plasma and cerebrospinal fluid.

D-2-HYDROXYGLUTARIC ACIDURIA Is also known as d-2-hga|d-2-hydroxyglutaric acidemia|d2hga

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about D-2-HYDROXYGLUTARIC ACIDURIA

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Other less relevant matches:

Low 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

Low match REFSUM DISEASE


Refsum disease (RD) is a very rare, clinically variable, multisystemic metabolic disease, characterized by anosmia, early-onset retinitis pigmentosa and possible neurological manifestations, including neuropathy, and cerebellar ataxia, deafness, ichthyosis, skeletal abnormalities, and cardiac arrhythmia. It is characterized biochemically by accumulation of phytanic acid in plasma and tissues.

REFSUM DISEASE Is also known as hmsn 4|phytanic-coa hydroxylase deficiency|heredopathia atactica polyneuritiformis|classic refsum disease|hereditary motor and sensory neuropathy type 4|adult refsum disease

Related symptoms:

  • Ataxia
  • Nystagmus
  • Sensorineural hearing impairment
  • Muscular hypotonia
  • Cataract


SOURCES: ORPHANET MENDELIAN

More info about REFSUM DISEASE

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 SCHINDLER DISEASE, TYPE I


Alpha-N-acetylgalactosaminidase (NAGA) deficiency is a very rare lysosomal storage disorder. It is clinically heterogeneous with 3 main phenotypes: type I is an infantile-onset neuroaxonal dystrophy; type II, also known as Kanzaki disease (OMIM ), is an adult-onset disorder characterized by angiokeratoma corporis diffusum and mild intellectual impairment; and type III is an intermediate disorder with mild to moderate neurologic manifestations (Desnick and Schindler, 2001).

SCHINDLER DISEASE, TYPE I Is also known as neuroaxonal dystrophy, schindler type|naga deficiency, type i|alpha-n-acetylgalactosaminidase deficiency, type i

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about SCHINDLER DISEASE, TYPE I

Low match NEURAMINIDASE DEFICIENCY


Sialidosis is an autosomal recessive disorder characterized by the progressive lysosomal storage of sialylated glycopeptides and oligosaccharides caused by a deficiency of the enzyme neuraminidase. Common to the sialidoses is the accumulation and/or excretion of sialic acid (N-acetylneuraminic acid) covalently linked ('bound') to a variety of oligosaccharides and/or glycoproteins (summary by Lowden and O'Brien, 1979). The sialidoses are distinct from the sialurias in which there is storage and excretion of 'free' sialic acid, rather than 'bound' sialic acid; neuraminidase activity in sialuria is normal or elevated. Salla disease (OMIM ) is a form of 'free' sialic acid disease. ClassificationLowden and O'Brien (1979) provided a logical nosology of neuraminidase deficiency into sialidosis type I and type II. Type I is the milder form, also known as the 'normosomatic' type or the cherry red spot-myoclonus syndrome. Sialidosis type II is the more severe form with an earlier onset, and is also known as the 'dysmorphic' type. Type II has been subdivided into juvenile and infantile forms. Other terms for sialidosis type II are mucolipidosis I and lipomucopolysaccharidosis.

NEURAMINIDASE DEFICIENCY Is also known as neug deficiency|neuraminidase 1 deficiency|glycoprotein neuraminidase deficiency|neu1 deficiency|mucolipidosis i|neu deficiency|lipomucopolysaccharidosis|sialidase deficiency|ml i|sialidosis, type ii

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NEURAMINIDASE DEFICIENCY

Low match MUCOPOLYSACCHARIDOSIS-LIKE SYNDROME WITH CONGENITAL HEART DEFECTS AND HEMATOPOIETIC DISORDERS


MPSPS is an autosomal recessive inborn error of metabolism resulting in a multisystem disorder with features of the mucopolysaccharidosis lysosomal storage diseases (see, e.g., {607016}). Patients present in infancy or early childhood with respiratory difficulties, cardiac problems, anemia, dysostosis multiplex, renal involvement, coarse facies, and delayed psychomotor development. Most patients die of cardiorespiratory failure in the first years of life (summary by Kondo et al., 2017).

MUCOPOLYSACCHARIDOSIS-LIKE SYNDROME WITH CONGENITAL HEART DEFECTS AND HEMATOPOIETIC DISORDERS Is also known as mucopolysaccharidosis-like plus disease

Related symptoms:

  • Global developmental delay
  • Abnormal facial shape
  • Spasticity
  • Anemia
  • Flexion contracture


SOURCES: OMIM ORPHANET MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS-LIKE SYNDROME WITH CONGENITAL HEART DEFECTS AND HEMATOPOIETIC DISORDERS

Low match BETA-THALASSEMIA MAJOR


Beta-thalassemia (BT) major is a severe early-onset form of BT (see this term) characterized by severe anemia requiring regular red blood cell transfusions.

BETA-THALASSEMIA MAJOR Is also known as cooley anemia|mediterranean anemia

Related symptoms:

  • Hearing impairment
  • Muscle weakness
  • Cataract
  • Anemia
  • Feeding difficulties


SOURCES: ORPHANET MENDELIAN

More info about BETA-THALASSEMIA MAJOR

Top 5 symptoms//phenotypes associated to Cardiomyopathy and Skeletal dysplasia

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Hearing impairment Common - Between 50% and 80% cases
Blindness Common - Between 50% and 80% cases
Cataract Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Peripheral neuropathy Muscular hypotonia Intellectual disability Sensorineural hearing impairment Abnormal facial shape Coarse facial features Cognitive impairment Nyctalopia Nystagmus Hepatomegaly Visual impairment Ataxia Generalized hypotonia Wide nasal bridge Myoclonus Anosmia Feeding difficulties Cardiomegaly Splenomegaly Anemia Muscle weakness Flexion contracture Progressive visual loss Ichthyosis Hyperreflexia Arrhythmia Pes cavus

Rare Symptoms - Less than 30% cases


Cerebral visual impairment Osteopenia Apnea Thick vermilion border Cerebral cortical atrophy Prominent forehead Failure to thrive Scoliosis Severe global developmental delay Respiratory distress Respiratory insufficiency Hypertrophic cardiomyopathy Spasticity Increased CSF protein Dysostosis multiplex Ptosis Developmental regression Hepatosplenomegaly Proteinuria Increased urinary O-linked sialopeptides Abnormality of the foot Pectus carinatum Abnormal pyramidal sign Recurrent respiratory infections Dyspnea Intellectual disability, severe Skeletal muscle atrophy Miosis Epiphyseal stippling Epiphyseal dysplasia Respiratory tract infection Barrel-shaped chest Microcephaly Optic atrophy Macroglossia Anteverted nares Rhizomelia Polyneuropathy Depressed nasal bridge Macrocephaly Dry skin Short stature Elevated levels of phytanic acid Talipes equinovarus Flat face Sensorimotor neuropathy Limb undergrowth Hypothyroidism Congenital cataract Constipation Hammertoe Hip dislocation Autism Rod-cone dystrophy Visual loss Congestive heart failure Growth delay Retinopathy Anxiety Cardiorespiratory arrest Mental deterioration Neoplasm of the liver Abnormality of the skull Corneal opacity Abnormality of movement Dysmetria Falls Abnormality of the nervous system Neurodegeneration Ascites Progressive cerebellar ataxia Waddling gait Increased serum ferritin Choreoathetosis Hydrops fetalis Laryngomalacia Abnormality of the hypothalamus-pituitary axis Kyphosis Abnormal hemoglobin Psychomotor deterioration Abnormality of the cerebral white matter Vertigo Monochromacy Tetraplegia Generalized myoclonic seizures Generalized-onset seizure Lymphedema Clonus Recurrent pneumonia Generalized amyotrophy Vegetative state Diffuse white matter abnormalities Hypersplenism Vascular skin abnormality Angiokeratoma Progressive psychomotor deterioration Angiokeratoma corporis diffusum Long-tract signs Oligosacchariduria Tremor Slurred speech Hernia Inguinal hernia Dementia Hypoparathyroidism Microcytic anemia Hyperactive deep tendon reflexes Skin ulcer Focal segmental glomerulosclerosis Tubular atrophy Beaking of vertebral bodies Cholelithiasis Large forehead Flared iliac wings Acetabular dysplasia Venous thrombosis Macrovesicular hepatic steatosis J-shaped sella turcica Obstructive lung disease Hypoplastic acetabulae Fever Pulmonary arterial hypertension Bone marrow hypocellularity Abnormality of the dentition Depressivity Neutropenia Cirrhosis Paresthesia Genu valgum Delayed puberty Osteoporosis Malabsorption Pallor Upslanted palpebral fissure Diabetes mellitus Arthralgia Jaundice Coarse hair Joint contracture of the hand Syringomyelia Atrial septal defect Hand tremor Thoracic kyphosis Elevated hepatic transaminase Foam cells Adrenal insufficiency Vacuolated lymphocytes Facial edema Cherry red spot of the macula Bone-marrow foam cells Urinary excretion of sialylated oligosaccharides Epicanthus Abnormality of the skeletal system Short neck Thrombocytopenia Thickened skin Pectus excavatum Patent ductus arteriosus Abnormal heart morphology Telecanthus Abnormality of the thorax Synophrys Hirsutism Wide nose Hepatic steatosis Brain atrophy Delayed myelination Cerebral calcification Abnormal lung morphology Long eyelashes Glomerulosclerosis Nail dysplasia Gastroesophageal reflux Broad nasal tip Vomiting Behavioral abnormality Malar flattening Cerebral atrophy Encephalopathy Brachycephaly Hyperactivity Mandibular prognathia Irritability Protruding ear Dolichocephaly Lethargy Aciduria Frontal bossing Focal-onset seizure Epileptic encephalopathy Hypsarrhythmia Involuntary movements Absence seizures Severe muscular hypotonia Aortic regurgitation Shock Focal impaired awareness seizure Stridor Turricephaly Dilation of lateral ventricles Delayed CNS myelination Ventriculomegaly Micrognathia Episodic vomiting Broad-based gait Autistic behavior Distal lower limb amyotrophy Short 5th metacarpal Calcific stippling Polyneuritis Hypertelorism Motor delay Dilatation Delayed skeletal maturation Elevated serum creatine phosphokinase Joint laxity Intellectual disability, moderate Delayed eruption of teeth Omphalocele Increased T3/T4 ratio Clumsiness Hoarse voice Increased body weight Congenital hip dislocation Wormian bones Coxa vara Hypercholesterolemia Relative macrocephaly Congenital hypothyroidism Drowsiness Long thorax Thyroid hormone receptor defect No permanent dentition Periventricular leukomalacia Generalized tonic seizures Cerebellar hypoplasia Abnormality of the genital system Hemiplegia/hemiparesis Heart block Hydrocephalus Edema Immunodeficiency Midface retrusion Hypospadias Micropenis Abnormality of the pinna Short philtrum Sepsis Decreased antibody level in blood Progressive microcephaly Abnormality of retinal pigmentation Hypocalcemia Sandal gap Scrotal hypoplasia Hypoplasia of the radius Short humerus Abnormality of immune system physiology IgG deficiency Short tibia Short femur Prolonged partial thromboplastin time Generalized edema Butterfly vertebrae Strabismus Abnormality of vision Abnormality of epiphysis morphology Inspiratory stridor Renal cyst Narrow naris Anteverted ears Infantile encephalopathy Glutaric aciduria Cardiogenic shock Subependymal cysts D-2-hydroxyglutaric aciduria Multifocal cerebral white matter abnormalities Delayed speech and language development Hyporeflexia Neonatal hypotonia Limb muscle weakness Retinal degeneration Sensory impairment Short metacarpal Pigmentary retinopathy Leukodystrophy Progressive hearing impairment Bilateral ptosis Multiple epiphyseal dysplasia Abnormal renal physiology Short fourth metatarsal Hyperoxaluria Renal insufficiency Microphthalmia Abnormality of metabolism/homeostasis Abnormality of the eye Abnormality of eye movement Malar prominence



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Tremor and Ichthyosis, related diseases and genetic alterations Edema and Squamous cell carcinoma, related diseases and genetic alterations High palate and Polydactyly, related diseases and genetic alterations Low-set ears and Kyphosis, related diseases and genetic alterations

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