Cardiomyopathy, and Coarse facial features

Diseases related with Cardiomyopathy and Coarse facial features

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


Top matches:

Medium match FAMILIAL ISOLATED PITUITARY ADENOMA


Mutations in the AIP gene have been found predominantly in growth hormone (GH)-secreting adenomas, but have also been found in adrenocorticotropic hormone (ACTH)-secreting, thyroid hormone (TSH)-secreting, and prolactin (PRL)-secreting pituitary tumors.Pituitary adenomas are benign monoclonal neoplasms of the anterior pituitary gland, accounting for approximately 15% of intracranial tumors. Growth hormone (OMIM )-secreting adenomas, also known as somatotropinomas, which clinically result in acromegaly, comprise about 20% of all pituitary tumors and are the second most common hormone-secreting pituitary tumor after prolactin (OMIM )-secreting tumors, which account for 40 to 45% of pituitary tumors. ACTH-secreting tumors, which result in Cushing disease, and thyrotropin (TSHB )-secreting tumors are much less common. Nonsecreting pituitary tumors, which account for about 33%, can cause symptoms due to local compressive effects of tumor growth (Vierimaa et al., 2006; Georgitsi et al., 2007; Horvath and Stratakis, 2008).Acromegaly is characterized by coarse facial features, protruding jaw, and enlarged extremities (Vierimaa et al., 2006). Familial isolated somatotropinoma (FIS) is defined as the occurrence of at least 2 cases of acromegaly or gigantism in a family that does not exhibit features of other endocrine syndromes. FIS patients tend to have onset about 4 to 10 years earlier than patients with sporadic disease (Gadelha et al., 1999; Horvath and Stratakis, 2008).Cushing disease is characterized by central obesity, moon facies, diabetes, 'buffalo hump,' hypertension, fatigue, easy bruising, depression, and reproductive disorders. Cushing disease is associated with increased morbidity and mortality, mainly due to cardiovascular or cerebrovascular disease and infections (summary by Perez-Rivas et al., 2015).Familial isolated pituitary adenoma (FIPA) and pituitary adenoma predisposition (PAP) are terms referring to families in which 2 or more individuals develop pituitary tumors. Within a family, tumor types can be heterogeneous, with members of the same family having GH-secreting, prolactin-secreting, ACTH-secreting, or nonsecreting adenomas; in contrast, some families are homogeneous with regard to tumor type. Familial isolated somatotropinoma refers specifically to GH-secreting tumors and is usually associated with an acromegaly phenotype. Thus, FIS is a subset of FIPA or PAP (Toledo et al., 2007).Schlechte (2003) discussed prolactinoma in general terms as a clinical, diagnostic, and therapeutic problem. Genetic Heterogeneity of Pituitary AdenomasAlso see pituitary adenoma-2 (PITA2 ), caused by mutation in the GPR101 gene (OMIM ); pituitary adenoma-3 (PITA3 ), caused by somatic activating mutations in the GNAS1 gene (OMIM ); pituitary adenoma-4 (PITA4 ), caused by somatic mutation in the USP8 gene (OMIM ); and pituitary adenoma-5 (PITA5 ), caused by mutation in the CDH23 gene (OMIM ).Patients with the chromosome Xq26.3 microduplication syndrome (OMIM ) have growth hormone-secreting adenomas.Familial acromegaly can also occur in association with multiple endocrine neoplasia type I (MEN1 ), Carney complex (CNC1 ), and the McCune-Albright syndrome (OMIM ).Rostomyan et al. (2015) performed a retrospective analysis of 208 patients with pituitary gigantism due to pituitary adenoma or hyperplasia. Most patients (78.4%) were male, and the median onset of rapid growth was 13 years of age for boys and 11 years for girls. Of the 143 patients who consented to genetic testing, 29% had AIP mutations, and microduplication at Xq26.3 (XLAG ) was present in 2 familial isolated pituitary adenoma kindreds and in 10 sporadic patients. Rostomyan et al. (2015) noted that no genetic etiology was identified in more than 50% of the cases, and that the genetically unexplained cases showed more aggressive disease in terms of invasion, hormone levels, and lower control rates.

FAMILIAL ISOLATED PITUITARY ADENOMA Is also known as somatotropinoma, familial isolated|pagh1|somatotrophinoma, familial|ifs|isolated familial somatotropinoma|fipa|acromegaly due to pituitary adenoma 1|fis

Related symptoms:

  • Neoplasm
  • Hypertension
  • Fatigue
  • Cardiomyopathy
  • Headache


SOURCES: OMIM ORPHANET MENDELIAN

More info about FAMILIAL ISOLATED PITUITARY ADENOMA

Medium match CARDIOFACIOCUTANEOUS SYNDROME 2; CFC2


Cardiofaciocutaneous (CFC) syndrome is a multiple congenital anomaly disorder characterized by a distinctive facial appearance, heart defects, and mental retardation (summary by Niihori et al., 2006). In a phenotypic comparison of BRAF (OMIM )-positive and KRAS-positive individuals with CFC, Niihori et al. (2006) observed that patients with KRAS mutations did not have the skin abnormalities, such as ichthyosis, hyperkeratosis, and hemangioma, that were present in patients with BRAF mutation.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Ptosis


SOURCES: OMIM MENDELIAN

More info about CARDIOFACIOCUTANEOUS SYNDROME 2; CFC2

Medium match URUGUAY FACIOCARDIOMUSCULOSKELETAL SYNDROME; FCMSU


URUGUAY FACIOCARDIOMUSCULOSKELETAL SYNDROME; FCMSU Is also known as faciocardiomusculoskeletal syndrome, uruguay type|fcms

Related symptoms:

  • Scoliosis
  • Low-set ears
  • Downslanted palpebral fissures
  • Cardiomyopathy
  • Congestive heart failure


SOURCES: OMIM MESH MENDELIAN

More info about URUGUAY FACIOCARDIOMUSCULOSKELETAL SYNDROME; FCMSU

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Other less relevant matches:

Medium 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

Medium match LETHAL POLYMALFORMATIVE SYNDROME, BOISSEL TYPE


Lethal polymalformative syndrome, Boissel type is a rare, genetic, lethal, multiple congenital anomalies/dysmorphic syndrome characterized by failure to thrive, severe developmental delay, severe postanatal microcephaly, frequent congenital cardiac defects and characteristic facial dysmorphysm (including coarse face with anteverted nostrils, thin vermillion, prominent alveolar ridge and retro- or micrognatia). Additional common features include neurologic abnormalities (hyper-/hypotonia, sensorineural deafness, hydrocephalus, cerebral atrophy, seizures), as well as brachydactyly, cutis marmorata and genital anomalies.

Related symptoms:

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Growth delay


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about LETHAL POLYMALFORMATIVE SYNDROME, BOISSEL TYPE

Medium match MUCOPOLYSACCHARIDOSIS, TYPE IIIA; MPS3A


The Sanfilippo syndrome, or mucopolysaccharidosis III, is an autosomal recessive lysosomal storage disease due to impaired degradation of heparan sulfate (Esposito et al., 2000). The disorder is characterized by severe central nervous system degeneration, but only mild somatic disease. Onset of clinical features usually occurs between 2 and 6 years; severe neurologic degeneration occurs in most patients between 6 and 10 years of age, and death occurs typically during the second or third decade of life. Type A has been reported (van de Kamp et al., 1981) to be the most severe, with earlier onset and rapid progression of symptoms and shorter survival. Genetic Heterogeneity of Mucopolysaccharidosis Type IIIMPS III includes 4 types, each due to the deficiency of a different enzyme: heparan N-sulfatase (type A); alpha-N-acetylglucosaminidase (type B; {252920}); acetyl CoA:alpha-glucosaminide acetyltransferase (type C; {252930}); and N-acetylglucosamine 6-sulfatase (type D; {252940}).

MUCOPOLYSACCHARIDOSIS, TYPE IIIA; MPS3A Is also known as mps iiia|sulfamidase deficiency|sanfilippo syndrome a|heparan sulfate sulfatase deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS, TYPE IIIA; MPS3A

Medium match MUCOPOLYSACCHARIDOSIS, TYPE IIID; MPS3D


The mucopolysaccharidoses are a family of lysosomal storage diseases caused by deficiencies of enzymes required for the catabolism of glycosaminoglycans. The defects result in accumulation of excessive intralysosomal glycosoaminoglycans (mucopolysaccharides) in various tissues, causing distended lysosomes to accumulate in the cell and interfere with cell function. Multiple types have been described (Mok et al., 2003).

MUCOPOLYSACCHARIDOSIS, TYPE IIID; MPS3D Is also known as sanfilippo syndrome d|mps iiid|n-acetylglucosamine-6-sulfatase deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Low-set ears


SOURCES: OMIM MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS, TYPE IIID; MPS3D

Medium match MUCOPOLYSACCHARIDOSIS, TYPE IIIB; MPS3B


Sanfilippo syndrome B is an autosomal recessive lysosomal storage disorder characterized by the accumulation of heparan sulfate. Clinically, patients have progressive neurodegeneration, behavioral problems, mild skeletal changes, and shortened life span. The clinical severity ranges from mild to severe (Chinen et al., 2005).For a phenotypic description and a discussion of genetic heterogeneity of Sanfilippo syndrome, or mucopolysaccharidosis III, see MPS IIIA (OMIM ).

MUCOPOLYSACCHARIDOSIS, TYPE IIIB; MPS3B Is also known as sanfilippo syndrome b|mps iiib|n-acetyl-alpha-d-glucosaminidase deficiency|naglu deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS, TYPE IIIB; MPS3B

Medium match MUCOPOLYSACCHARIDOSIS, TYPE IIIC; MPS3C


Sanfilippo syndrome comprises several forms of lysosomal storage diseases due to impaired degradation of heparan sulfate. The deficient enzyme in Sanfilippo syndrome C, or MPS IIIC, is an acetyltransferase that catalyzes the conversion of alpha-glucosaminide residues to N-acetylglucosaminide in the presence of acetyl-CoA.For a general phenotypic description and a discussion of genetic heterogeneity of Sanfilippo syndrome, see MPS IIIA (OMIM ).

MUCOPOLYSACCHARIDOSIS, TYPE IIIC; MPS3C Is also known as sanfilippo syndrome c|mps iiic|acetyl-coa:alpha-glucosaminide n-acetyltransferase deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS, TYPE IIIC; MPS3C

Medium 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

Top 5 symptoms//phenotypes associated to Cardiomyopathy and Coarse facial features

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Hearing impairment Common - Between 50% and 80% cases
Hepatomegaly Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Cardiomyopathy and Coarse facial features. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Hyperactivity Behavioral abnormality Synophrys Ovoid thoracolumbar vertebrae Low-set ears Hirsutism Anteverted nares Recurrent upper respiratory tract infections Joint stiffness Thickened ribs Heparan sulfate excretion in urine Asymmetric septal hypertrophy Dysostosis multiplex Coarse hair Diarrhea Splenomegaly Sleep disturbance Hypertrophic cardiomyopathy Short neck Peripheral neuropathy Cerebral cortical atrophy Dense calvaria Growth abnormality

Rare Symptoms - Less than 30% cases


Hypertrichosis Myoclonus Abnormal facial shape Cardiomegaly Restlessness Microcephaly Scoliosis Generalized hypotonia Wide nasal bridge Prominent forehead Difficulty walking Retrognathia Dementia Frontal bossing Depressed nasal bridge Limb ataxia Cellular metachromasia Everted lower lip vermilion Aggressive behavior Blindness Ventricular hypertrophy Progressive neurologic deterioration Dysphagia Intellectual disability, severe Skeletal dysplasia Downslanted palpebral fissures Failure to thrive Obesity Left ventricular hypertrophy Absent speech Hernia Umbilical hernia Wide mouth Severe global developmental delay Apnea Hypertelorism Macrocephaly Muscular hypotonia Dolichocephaly Posteriorly rotated ears Ataxia Cerebral visual impairment Cutis marmorata Patent ductus arteriosus Pneumonia Intrauterine growth retardation Ventricular septal defect Hypoplasia of the corpus callosum Delayed speech and language development Hydrocephalus Hypertonia Long philtrum Skull asymmetry Severe failure to thrive Periorbital fullness Corneal opacity Thin vermilion border Macroglossia Split hand Bifid uvula Delayed myelination Protruding tongue Small nail Short chin Lissencephaly Failure to thrive in infancy Dandy-Walker malformation Neoplasm Thickened calvaria Generalized-onset seizure Cerebellar hypoplasia Autism Gastroesophageal reflux Osteopenia Developmental regression Abnormality of the cerebral white matter Congenital cataract Vertigo Thick vermilion border Tetraplegia Generalized myoclonic seizures Lymphedema Optic atrophy Clonus Recurrent pneumonia Generalized amyotrophy Vegetative state Psychomotor deterioration Diffuse white matter abnormalities Vascular skin abnormality Angiokeratoma Progressive psychomotor deterioration Angiokeratoma corporis diffusum Long-tract signs Oligosacchariduria Constipation Hyperreflexia Visceromegaly Retinal degeneration Central nervous system degeneration Flexion contracture Dysarthria Cryptorchidism Thick eyebrow Thick lower lip vermilion Chronic diarrhea Progressive hearing impairment Drooling Tremor Cerebellar atrophy Dysmetria Neurodegeneration Cognitive impairment Protuberant abdomen Motor delay Rod-cone dystrophy Kyphoscoliosis Hepatosplenomegaly Respiratory tract infection Loss of speech Motor deterioration Nystagmus Strabismus Cataract Spasticity Brachydactyly Turricephaly Cleft palate Arthropathy Broad forehead Pulmonic stenosis Peripheral axonal neuropathy Ichthyosis Mitral valve prolapse Fine hair Hemangioma Bilateral ptosis Sparse eyebrow Absent eyebrow Curly hair Neuropathic arthropathy Low-set, posteriorly rotated ears Congestive heart failure Kyphosis Elevated serum creatine phosphokinase Pes cavus Hip dislocation Wide nose Prominent nose Mitral regurgitation Joint contracture of the hand Congenital hip dislocation Prominent supraorbital ridges Abnormality of the voice Sparse hair High forehead Hallux valgus Abdominal obesity Fatigue Headache Depressivity Bruising susceptibility Epidermal acanthosis Acanthosis nigricans Growth hormone excess Prolactin excess Pituitary adenoma Neoplasm of the endocrine system Menstrual irregularities Galactorrhea Proptosis Pituitary prolactin cell adenoma Pituitary growth hormone cell adenoma Moon facies Dorsocervical fat pad Prolactinoma Increased serum insulin-like growth factor 1 Short stature Ptosis High palate Myopia Atrial septal defect Hyperkeratosis Skeletal muscle hypertrophy Broad palm Sensorineural hearing impairment Delayed CNS myelination Hypsarrhythmia Involuntary movements Absence seizures Severe muscular hypotonia Aortic regurgitation Shock Focal impaired awareness seizure Stridor Hypertension Increased CSF protein Dilation of lateral ventricles Periventricular leukomalacia Focal-onset seizure Episodic vomiting Generalized tonic seizures Inspiratory stridor Narrow naris Anteverted ears Infantile encephalopathy Glutaric aciduria Cardiogenic shock Subependymal cysts D-2-hydroxyglutaric aciduria Multifocal cerebral white matter abnormalities Growth delay Epileptic encephalopathy Aciduria Eclabion Visual impairment Limited elbow movement Brachyturricephaly Hyperplasia of the maxilla Camptodactyly of toe Progressive pes cavus Broad nail Marked muscular hypertrophy Pugilistic facies Dislocation of toes Micrognathia Muscle weakness Feeding difficulties Ventriculomegaly Broad nasal tip Respiratory insufficiency Respiratory distress Vomiting Malar flattening Cerebral atrophy Encephalopathy Brachycephaly Mandibular prognathia Irritability Protruding ear Lethargy Flat face Increased urinary O-linked sialopeptides



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