Cardiomyopathy, and Nephrolithiasis

Diseases related with Cardiomyopathy and Nephrolithiasis

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


Top matches:

Low match LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2; CGL2


Congenital generalized lipodystrophy (CGL), also known as Berardinelli-Seip syndrome, is an autosomal recessive disorder characterized by marked paucity of adipose tissue, extreme insulin resistance, hypertriglyceridemia, hepatic steatosis and early onset of diabetes (Garg, 2004).For a general description and a discussion of genetic heterogeneity of congenital generalized lipodystrophy, see CGL1 (OMIM ).

LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2; CGL2 Is also known as berardinelli-seip congenital lipodystrophy, type 2|brunzell syndrome, bscl2-related|lipoatrophic diabetes, congenital|seip syndrome|lipodystrophy, total, and acromegaloid gigantism|lipodystrophy, berardinelli-seip congenital, type 2|berardinelli syndrome

Related symptoms:

  • Intellectual disability
  • Cognitive impairment
  • Hypertension
  • Hepatomegaly
  • Cardiomyopathy


SOURCES: OMIM MENDELIAN

More info about LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2; CGL2

Low match PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY


Phosphoribosylpyrophosphate synthetase I superactivity is an X-linked inborn error of metabolism in which increased enzyme activity is associated with hyperuricemia and gout. Some affected individuals have neurodevelopmental abnormalities, particularly sensorineural deafness (Becker et al., 1988; Roessler et al., 1993).Although different kinetic defects affecting the PRPS1 enzyme have been identified in this disorder, the common pathway involves increased synthesis of phosphoribosylpyrophosphate (PRPP), which leads to increased uric acid and purine production (Becker, 2001).

PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY Is also known as prps1 superactivity

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY

Low match PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA-MYOPATHY-EMACIATION SYNDROME


Progressive external ophthalmoplegia-myopathy-emaciation syndrome is a rare mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies characterized by progressive external ophthalmoplegia without diplopia, cerebellar atrophy, proximal skeletal muscle weakness with generalized muscle wasting, profound emaciation, respiratory failure, spinal deformity and facial muscle weakness (manifesting with ptosis, dysphonia, dysphagia and nasal speech). Intellectual disability, gastrointestinal symptoms (e.g. nausea, abdominal fullness, and loss of appetite), dilated cardiomyopathy and renal colic have also been reported.

PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA-MYOPATHY-EMACIATION SYNDROME Is also known as mitochondrial dna maintenance syndrome due to mgme1 deficiency|peo-myopathy-emaciation syndrome|mtdna maintenance syndrome due to mgme1 deficiency

Related symptoms:

  • Intellectual disability
  • Microcephaly
  • Muscle weakness
  • Ptosis
  • Skeletal muscle atrophy


SOURCES: ORPHANET OMIM MENDELIAN

More info about PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA-MYOPATHY-EMACIATION SYNDROME

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Low match CUSHING DISEASE


Cushing disease (CD) is the most common cause of endogenous Cushing syndrome (CS; see this term) and is due to pituitary chronic over-secretion of ACTH by a pituitary corticotroph adenoma.

CUSHING DISEASE Is also known as corticotroph pituitary adenoma|pituitary-dependent cushing syndrome|pituitary corticotroph micro-adenoma

Related symptoms:

  • Failure to thrive
  • Cataract
  • Visual impairment
  • Hypertension
  • Fatigue


SOURCES: ORPHANET MENDELIAN

More info about CUSHING DISEASE

Low 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

Low match ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA; AIMAH1


ACTH-independent macronodular adrenal hyperplasia (AIMAH) is an endogenous form of adrenal Cushing syndrome characterized by multiple bilateral adrenocortical nodules that cause a striking enlargement of the adrenal glands. Although some familial cases have been reported, the vast majority of AIMAH cases are sporadic. Patients typically present in the fifth and sixth decades of life, approximately 10 years later than most patients with other causes of Cushing syndrome (Swain et al., 1998; Christopoulos et al., 2005).Approximately 10 to 15% of adrenal Cushing syndrome is due to primary bilateral ACTH-independent adrenocortical pathology. The 2 main subtypes are AIMAH and primary pigmented nodular adrenocortical disease (PPNAD, see {610489}), which is often a component of the Carney complex (OMIM ) and associated with mutations in the PRKAR1A gene (OMIM ) on chromosome 17q23-q24. AIMAH is rare, representing less than 1% of endogenous causes of Cushing syndrome (Swain et al., 1998; Christopoulos et al., 2005).See also ACTH-independent Cushing syndrome (OMIM ) due to somatic mutation in the PRKACA gene (OMIM ).Cushing 'disease' (OMIM ) is an ACTH-dependent disorder caused in most cases by pituitary adenomas that secrete excessive ACTH. Genetic Heterogeneity of ACTH-Independent Macronodular Adrenal HyperplasiaAIMAH2 (OMIM ) is caused by germline mutation of 1 allele of the ARMC5 gene (OMIM ) coupled with a somatic mutation in the other allele.

ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA; AIMAH1 Is also known as acth-independent macronodular adrenocortical hyperplasia|cushing syndrome, adrenal, due to aimah|corticotropin-independent macronodular adrenal hyperplasia|adrenocorticotropic hormone-independent macronodular adrenal hyperplasia

Related symptoms:

  • Neoplasm
  • Failure to thrive
  • Muscle weakness
  • Cataract
  • Visual impairment


SOURCES: OMIM MESH MENDELIAN

More info about ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA; AIMAH1

Low match INFANTILE REFSUM DISEASE


Infantile Refsum disease (IRD) is the mildest variant of the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD- ZSS; see this term), characterized by hypotonia, retinitis pigmentosa, developmental delay, sensorineural hearing loss and liver dysfunction. Phenotypic overlap is seen between IRD and neonatal adrenoleukodystrophy (NALD) (see this term).

INFANTILE REFSUM DISEASE Is also known as adrenoleukodystrophy, autosomal neonatal|infantile phytanic acid storage disease|peroxisome biogenesis disorder (nald/ird)|ird|refsum disease, infantile|peroxisome biogenesis disorder (neonatal adrenoleukodystrophy/infantile refsum disease)

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about INFANTILE REFSUM DISEASE

Low match SOTOS SYNDROME 3; SOTOS3


Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Neoplasm
  • Cleft palate


SOURCES: ORPHANET OMIM MENDELIAN

More info about SOTOS SYNDROME 3; SOTOS3

Low match ZIMMERMANN-LABAND SYNDROME


Zimmermann-Laband syndrome (ZLS) is a rare disorder characterized by gingival fibromatosis, coarse facial appearance, and absence or hypoplasia of nails or terminal phalanges of hands and feet.

ZIMMERMANN-LABAND SYNDROME Is also known as laband syndrome|gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome|fibromatosis, gingival, with abnormal fingers, fingernails, nose, and ears, and splenomegaly

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ZIMMERMANN-LABAND SYNDROME

Low match BECKWITH-WIEDEMANN SYNDROME; BWS


Beckwith-Wiedemann syndrome is a pediatric overgrowth disorder involving a predisposition to tumor development. The clinical presentation is highly variable; some cases lack the hallmark features of exomphalos, macroglossia, and gigantism as originally described by Beckwith (1969) and Wiedemann (1969) (summary by Weksberg et al., 2010).Mussa et al. (2016) provided a review of Beckwith-Wiedemann syndrome, including the wide spectrum of phenotypic manifestations, delineation of the frequencies of manifestations according to genotype, and discussion of the molecular and epigenetic defects that underlie the disorder.

BECKWITH-WIEDEMANN SYNDROME; BWS Is also known as emg syndrome|exomphalos-macroglossia-gigantism syndrome|wiedemann-beckwith syndrome|wbs

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about BECKWITH-WIEDEMANN SYNDROME; BWS

Top 5 symptoms//phenotypes associated to Cardiomyopathy and Nephrolithiasis

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Hypertension Common - Between 50% and 80% cases
Hepatomegaly Common - Between 50% and 80% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Umbilical hernia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Accelerated skeletal maturation Wide mouth Diabetes mellitus Hearing impairment Global developmental delay Lipodystrophy Cataract Hirsutism Mandibular prognathia Hernia Splenomegaly Arrhythmia Macrocephaly Large fontanelles Macrotia Failure to thrive Muscular hypotonia Midface retrusion Seizures Coarse facial features Hyperactivity Neoplasm Intellectual disability, mild Generalized hirsutism Skeletal muscle atrophy Congestive heart failure Osteoporosis Visual impairment Polyhydramnios Abnormal facial shape Sensorineural hearing impairment Large for gestational age Macroglossia Cirrhosis Tall stature Hypertrophic cardiomyopathy Large hands Hypertrichosis Triangular face

Rare Symptoms - Less than 30% cases


Prominent metopic ridge Recurrent skin infections Bipolar affective disorder Fatigue Myopathy Aseptic necrosis Generalized hyperpigmentation Immunodeficiency Telangiectasia of the skin Truncal obesity Menorrhagia Acne Premature ovarian insufficiency Hypokalemia Venous thrombosis Prominent occiput Nevus flammeus Thin skin Psychosis Pituitary adenoma Round face Recurrent fractures Sleep disturbance Bruising susceptibility Headache Depressivity Infertility Lethargy Anxiety Abdominal pain Adrenal hyperplasia Hypoglycemia Onychomycosis Adrenocortical carcinoma Visceromegaly Omphalocele Renal cyst Cardiomegaly Adrenocortical cytomegaly Posterior helix pit Cleft palate Polydactyly Cryptorchidism Rhabdomyosarcoma Hepatoblastoma Proptosis Hypothyroidism Vesicoureteral reflux Congenital cataract Joint hypermobility Metrorrhagia Hypercalciuria Dilatation Nephropathy Edema Nephroblastoma Obesity Growth abnormality Diastasis recti Gonadoblastoma Neonatal hypoglycemia Overgrowth High palate Wide nasal bridge Cognitive impairment Hemihypertrophy Neuroblastoma Hepatosplenomegaly Visual loss Enlarged kidney Congenital generalized lipodystrophy Long foot Bone cyst Generalized muscular appearance from birth Kyphosis Acute pancreatitis Generalized lipodystrophy Respiratory insufficiency Muscle weakness Decreased fertility in females Decreased serum leptin Dyspnea Prominent umbilicus Strabismus Insulin-resistant diabetes mellitus at puberty Growth delay Labial hypertrophy Convex nasal ridge Reduced intrathoracic adipose tissue Ataxia Neurological speech impairment Respiratory failure Cystic angiomatosis of bone Epicanthus Hyperinsulinemia Elevated hepatic transaminase Hepatic steatosis Epidermal acanthosis Hypertriglyceridemia Abnormality of the genital system Insulin resistance Recurrent infections Facial palsy Renal insufficiency Polycystic ovaries Acanthosis nigricans Clitoral hypertrophy High pitched voice Peripheral neuropathy Lipoatrophy Polyphagia Skeletal muscle hypertrophy Patent ductus arteriosus Short distal phalanx of finger Myopia Downslanted palpebral fissures Abnormality of the skeletal system Intellectual disability, severe Vitreomacular adhesion Thick vermilion border Posteriorly rotated ears Delayed eruption of teeth Protruding ear Broad forehead Synophrys Overgrowth of external genitalia Bulbous nose Thick eyebrow Urogenital fistula Brachydactyly Anterior creases of earlobe Multiple renal cysts Pancreatoblastoma Ureteral duplication Otosclerosis Fibrous hamartoma Pseudohypoparathyroidism Abnormality of earlobe Asymmetric growth Pancreatic hyperplasia Choroideremia Elevated alpha-fetoprotein Scoliosis Leiomyosarcoma Intellectual disability, profound Facial hemangioma Infra-orbital crease Branchial cyst Large placenta Congenital megaureter Abnormality of pancreas morphology Abnormality of the shape of the midface Large intestinal polyposis Subchorionic septal cyst Bilateral sensorineural hearing impairment Pulmonary hypoplasia Nephroblastomatosis Tibial bowing Recurrent urinary tract infections Nephrocalcinosis Abnormality of the outer ear Polycystic kidney dysplasia Prominent supraorbital ridges Abnormality of the ear Broad palm Nevus Hamartoma Congenital hypothyroidism Aniridia Protuberant abdomen Foot polydactyly Ketosis Nonimmune hydrops fetalis Dandy-Walker malformation Abdominal distention Pancreatic cysts Short nose Abnormality of the kidney Intellectual disability, moderate Hydronephrosis Carcinoma Conductive hearing impairment Myoclonus Abnormal heart morphology Atrial septal defect Postural instability Respiratory distress Intrauterine growth retardation Pain Hypertelorism Mesiodens Short distal phalanx of toe Postaxial polydactyly Hypoplasia of the thymus Abnormality of the tongue Small nail Metaphyseal widening Thin bony cortex Dystrophic fingernails Broad ribs Protruding tongue Aortic root aneurysm Pericardial effusion Anonychia Thymus hyperplasia Abdominal mass Hemangioma Spina bifida occulta Intellectual disability, progressive Hemivertebrae Attention deficit hyperactivity disorder Thickened skin Thick lower lip vermilion Colpocephaly Opsoclonus Unilateral cryptorchidism Flank pain Diaphragmatic eventration Teratoma Abdominal wall defect Embryonal neoplasm Renal cortical cysts Prune belly Prominent eyelashes Aortic arch aneurysm Ganglioneuroma Everted upper lip vermilion Generalized hypertrichosis Biliary atresia Cavernous hemangioma Hyperextensibility of the finger joints Gingival fibromatosis Long penis Gingival overgrowth Optic atrophy Exocrine pancreatic insufficiency Easy fatigability Proximal muscle weakness Dilated cardiomyopathy Ophthalmoplegia Limb muscle weakness Stage 5 chronic kidney disease Nausea Generalized muscle weakness Amenorrhea Primary amenorrhea Hypergonadotropic hypogonadism Exercise intolerance External ophthalmoplegia Respiratory insufficiency due to muscle weakness Ragged-red muscle fibers Dysphonia Cerebellar hypoplasia Autoimmunity Abnormality of the ovary Angina pectoris Oligomenorrhea Abnormality of lipid metabolism Insulin-resistant diabetes mellitus Hyperlipidemia Hyperhidrosis Chronic kidney disease Spinal deformities Proximal amyotrophy Progressive external ophthalmoplegia Spinal rigidity Generalized amyotrophy Nasal speech Hypogonadism Elevated serum creatine phosphokinase Osteopenia Polyneuropathy Pancreatitis Decreased fertility Thick hair Motor delay Hypertonia Areflexia Pneumonia Prominent forehead Arthritis Abnormality of the nervous system Hypermetropia Abnormality of eye movement Dysmetria Peripheral axonal neuropathy Hypotelorism Hyporeflexia Abnormality of skeletal muscles Diarrhea Cerebellar atrophy Dysphagia Ptosis Microcephaly Uric acid nephrolithiasis Excessive purine production Hyperuricemia Increased urinary hypoxanthine Hyperuricosuria Abnormal aortic morphology High-frequency hearing impairment Gout Arnold-Chiari type I malformation Glioma Mental deterioration Polycythemia Elevated levels of phytanic acid Abnormality of epiphysis morphology Rhizomelia Progressive muscle weakness Hepatic fibrosis Leukodystrophy Spinal muscular atrophy Impulsivity Constriction of peripheral visual field Severe hearing impairment Epiphyseal stippling Hypocholesterolemia Hyperoxaluria Progressive spinal muscular atrophy Very long chain fatty acid accumulation Abnormality of cardiovascular system morphology Esotropia Wide anterior fontanel Neurodevelopmental delay Melanocytic nevus Redundant skin Relative macrocephaly Arnold-Chiari malformation Sleep apnea Congenital diaphragmatic hernia Inguinal hernia Prominent nose Premature birth Long face Poor speech Feeding difficulties in infancy Autism Abnormality of the face Ichthyosis Hypotension Neoplasm of the endocrine system Macronodular adrenal hyperplasia Dorsocervical fat pad Moon facies Mood changes Decreased circulating ACTH level Abdominal obesity Increased circulating cortisol level Short stature Subarachnoid hemorrhage Striae distensae Orthostatic hypotension Agitation Increased body weight Memory impairment Primary hypercortisolism Nystagmus Dolichocephaly High forehead Nyctalopia Retinopathy Respiratory tract infection Postnatal growth retardation Neonatal hypotonia Jaundice Acidosis Spasticity Rod-cone dystrophy Absent speech Behavioral abnormality Anteverted nares Delayed speech and language development Low-set ears Congenital mesoblastic nephroma



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