Ventricular septal defect, and Pheochromocytoma

Diseases related with Ventricular septal defect and Pheochromocytoma

In the following list you will find some of the most common rare diseases related to Ventricular septal defect and Pheochromocytoma that can help you solving undiagnosed cases.


Top matches:

Medium match RUBINSTEIN-TAYBI SYNDROME 1; RSTS1


Rubinstein-Taybi syndrome is a multiple congenital anomaly syndrome characterized by mental retardation, postnatal growth deficiency, microcephaly, broad thumbs and halluces, and dysmorphic facial features. The facial appearance is striking, with highly arched eyebrows, long eyelashes, downslanting palpebral fissures, broad nasal bridge, beaked nose with the nasal septum, highly arched palate, mild micrognathia, and characteristic grimacing or abnormal smile. Affected individuals also have an increased risk of tumor formation (Rubinstein and Taybi, 1963; review by Hennekam, 2006).Floating-Harbor syndrome (OMIM ), which shows phenotypic overlap with Rubinstein-Taybi syndrome, is caused by mutation in the SRCAP gene (OMIM ), a coactivator for CREBBP. Genetic Heterogeneity of Rubinstein-Taybi SyndromeRubinstein-Taybi syndrome-1 (RSTS1) constitutes about 50 to 70% of patients with the disorder. Rubinstein-Taybi syndrome-2 (RSTS2 ) comprises about 3% of patients and is primarily due to de novo heterozygous mutation in the EP300 gene (OMIM ) on chromosome 22q13 (Bartsch et al., 2010).See also chromosome 16p13.3 deletion syndrome (OMIM ), a severe form of Rubinstein-Taybi syndrome resulting from a contiguous gene deletion involving the CREBBP gene as well as other neighboring genes.

RUBINSTEIN-TAYBI SYNDROME 1; RSTS1 Is also known as broad thumbs and great toes, characteristic facies, and mental retardation|rubinstein syndrome|rsts|broad thumb-hallux syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about RUBINSTEIN-TAYBI SYNDROME 1; RSTS1

Low match NEUROFIBROMATOSIS TYPE 1 DUE TO NF1 MUTATION OR INTRAGENIC DELETION


Neurofibromatosis type I is an autosomal dominant disorder characterized by cafe-au-lait spots, Lisch nodules in the eye, and fibromatous tumors of the skin. Individuals with the disorder have increased susceptibility to the development of benign and malignant tumors. NF1 is sometimes referred to as 'peripheral neurofibromatosis.' The worldwide incidence of NF1 is 1 in 2,500 to 1 in 3,000 individuals (reviews by Shen et al., 1996 and Williams et al., 2009).Type II neurofibromatosis (NF2 ) is a genetically distinct disorder caused by mutation in the gene encoding merlin (NF2 ) on chromosome 22q12. NF2, sometimes known as 'central neurofibromatosis,' is characterized by bilateral acoustic neuroma and meningioma, but few skin lesions or neurofibromas (Rouleau et al., 1993).Some patients with homozygous or compound heterozygous mutations in mismatch repair genes (see, e.g., MLH1; {120436} and MSH2; {609309}) have a phenotype characterized by early onset malignancies and mild features of NF1, especially cafe-au-lait spots; this is known as the mismatch repair cancer syndrome (OMIM ), sometimes referred to as brain tumor-polyposis syndrome-1 or Turcot syndrome. These patients typically do not have germline mutations in the NF1 gene, although a study by Wang et al. (2003) suggested that biallelic mutations in mismatch repair genes may cause somatic mutations in the NF1 gene, perhaps resulting in isolated features resembling NF1.See also Legius syndrome (OMIM ), a genetically distinct disorder with a similar phenotype to NF1.

NEUROFIBROMATOSIS TYPE 1 DUE TO NF1 MUTATION OR INTRAGENIC DELETION Is also known as von recklinghausen disease due to nf1 mutation or intragenic deletion|neurofibromatosis, peripheral type|von recklinghausen disease

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Scoliosis
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEUROFIBROMATOSIS TYPE 1 DUE TO NF1 MUTATION OR INTRAGENIC DELETION

Low match COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 15


Combined oxidative phosphorylation defect type 15 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by onset in infancy or early childhood of muscular hypotonia, gait ataxia, mild bilateral pyramidal tract signs, developmental delay (affecting mostly speech and coordination) and subsequent intellectual disability. Short stature, obesity, microcephaly, strabismus, nystagmus, reduced visual acuity, lactic acidosis, and a brain neuropathology consistent with Leigh syndrome are also reported.

COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 15 Is also known as coxpd15

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 15

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

Low match LATERAL MENINGOCELE SYNDROME


Lateral meningocele syndrome is a rare disorder characterized by distinctive facial features, hyperextensibility, hypotonia, and characteristic lateral meningoceles, which can result in neurologic complications such as bladder dysfunction and neuropathy. Dysmorphic features include dolichocephaly, hypertelorism, ptosis, microretrognathia, high-arched palate, long, flat philtrum, and low-set ears. Multiple additional variable features may also be observed, including cryptorchidism, vertebral anomalies, and connective tissue abnormalities. Early motor development is delayed, but cognition is usually normal (summary by Gripp et al., 2015).

LATERAL MENINGOCELE SYNDROME Is also known as lehman syndrome|lms

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about LATERAL MENINGOCELE SYNDROME

Low match PARAGANGLIOMAS 5; PGL5


Related symptoms:

  • Neoplasm
  • Hypertension
  • Hyperhidrosis
  • Vertigo
  • Tachycardia


SOURCES: OMIM MENDELIAN

More info about PARAGANGLIOMAS 5; PGL5

Low match PARAGANGLIOMAS 1; PGL1


Paragangliomas, also referred to as 'glomus body tumors,' are tumors derived from paraganglia located throughout the body. Nonchromaffin types primarily serve as chemoreceptors (hence, the tumor name 'chemodectomas') and are located in the head and neck region (i.e., carotid body, jugular, vagal, and tympanic regions), whereas chromaffin types have endocrine activity, conventionally referred to as 'pheochromocytomas,' and are usually located below the head and neck (i.e., adrenal medulla and pre- and paravertebral thoracoabdominal regions). PGL can manifest as nonchromaffin head and neck tumors only, adrenal and/or extraadrenal pheochromocytomas only, or a combination of the 2 types of tumors (Baysal, 2002; Neumann et al., 2004).The triad of gastric leiomyosarcoma, pulmonary chondroma, and extraadrenal paraganglioma constitutes a syndrome that occurs mainly in young women and is known as the Carney triad (OMIM ). This triad is not to be confused with the other Carney syndrome of myxoma, spotty pigmentation, and endocrinopathy (OMIM ).Baysal (2008) provided a review of the molecular pathogenesis of hereditary paraganglioma. Genetic Heterogeneity of ParagangliomasSee also PGL4 (OMIM ), caused by mutation in the SDHB gene (OMIM ) on chromosome 1p36; PGL3 (OMIM ), caused by mutation in the SDHC gene (OMIM ) on chromosome 1q21; PGL2 (OMIM ), caused by mutation in the SDHAF2 gene (OMIM ) on chromosome 11q13; and PGL5 (OMIM ), caused by mutation in the SDHA gene (OMIM ) on chromosome 5p15.

PARAGANGLIOMAS 1; PGL1 Is also known as paraganglioma, carotid body|glomus tumors, familial, 1|cbt1|glomus jugulare tumors|paragangliomas, familial, 1|chemodectomas|paragangliomas, familial nonchromaffin, 1|carotid body tumors|pgl|paragangliomata

Related symptoms:

  • Neoplasm
  • Pain
  • Hypertension
  • Hyperhidrosis
  • Dyspnea


SOURCES: OMIM MENDELIAN

More info about PARAGANGLIOMAS 1; PGL1

Low match FANCONI ANEMIA, COMPLEMENTATION GROUP N; FANCN


Fanconi anemia (FA) is a clinically and genetically heterogeneous disorder that causes genomic instability. Characteristic clinical features include developmental abnormalities in major organ systems, early-onset bone marrow failure, and a high predisposition to cancer. The cellular hallmark of FA is hypersensitivity to DNA crosslinking agents and high frequency of chromosomal aberrations pointing to a defect in DNA repair (summary by Deakyne and Mazin, 2011).For additional general information and a discussion of genetic heterogeneity of Fanconi anemia, see {227650}.

Related symptoms:

  • Microcephaly
  • Growth delay
  • Hypertelorism
  • Neoplasm
  • Failure to thrive


SOURCES: MESH OMIM MENDELIAN

More info about FANCONI ANEMIA, COMPLEMENTATION GROUP N; FANCN

Low match ISOLATED HEMIHYPERPLASIA


Isolated hemihyperplasia is a rare overgrowth syndrome characterized by an asymmetric regional body overgrowth, involving at least one limb, and associated with an increased risk of developing embryonal tumors, principally nephroblastoma (see this term) and hepoblastoma.

ISOLATED HEMIHYPERPLASIA Is also known as hemicorporal hypertrophy|hemi 3 syndrome|hemihypertrophy, isolated|hemihyperplasia|isolated hemihypertrophy|hhp

Related symptoms:

  • Seizures
  • Scoliosis
  • Neoplasm
  • Cryptorchidism
  • Hydrocephalus


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about ISOLATED HEMIHYPERPLASIA

Low match OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME


Osteoporosis pseudoglioma syndrome is a very rare autosomal recessive disorder characterized by congenital or infancy-onset blindness and severe juvenile-onset osteoporosis and spontaneous fractures.

OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME Is also known as oppg|osteogenesis imperfecta, ocular form|ocular form of osteogenesis imperfecta|ops

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME

Low match CARNEY COMPLEX


Carney complex (CNC) is characterized by spotty skin pigmentation, endocrine overactivity and myxomas.

CARNEY COMPLEX Is also known as myxoma-spotty pigmentation-endocrine overactivity syndrome|carney syndrome|carney myxoma-endocrine complex, type 2

Related symptoms:

  • Neoplasm
  • Congestive heart failure
  • Stroke
  • Hirsutism
  • Sudden cardiac death


SOURCES: ORPHANET OMIM MENDELIAN

More info about CARNEY COMPLEX

Top 5 symptoms//phenotypes associated to Ventricular septal defect and Pheochromocytoma

Symptoms // Phenotype % cases
Neoplasm Common - Between 50% and 80% cases
Short stature Uncommon - Between 30% and 50% cases
Neurofibromas Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

Patients with Ventricular septal defect and Pheochromocytoma. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Microcephaly Scoliosis Hypertension Cafe-au-lait spot Glaucoma Leukemia Joint hypermobility Leiomyosarcoma Recurrent fractures Intellectual disability Abnormality of cardiovascular system morphology Bicuspid aortic valve Hypertelorism Pain Visual impairment Kyphoscoliosis Intellectual disability, mild Global developmental delay Paraganglioma Muscular hypotonia Abnormal facial shape Ptosis Delayed speech and language development Cryptorchidism Epicanthus

Rare Symptoms - Less than 30% cases


Hypertension associated with pheochromocytoma Nasolacrimal duct obstruction Medulloblastoma Incoordination Meningioma Back pain Overweight Neuroblastoma Narrow palate Cataract Tethered cord Parathyroid adenoma Dental crowding Low-set ears Aganglionic megacolon Glioma Low posterior hairline Rhabdomyosarcoma Increased circulating cortisol level Schwannoma Failure to thrive Hearing impairment Blindness Osteoporosis Hydrocephalus Adrenal pheochromocytoma Abnormality of the skeletal system Growth delay Dysarthria Peripheral neuropathy Anemia Overgrowth Cognitive impairment Micrognathia Strabismus Osteopenia Recurrent paroxysmal headache Facial asymmetry Nephroblastoma Tachycardia Embryonal neoplasm Hyperhidrosis Coarctation of aorta Neoplasm of the endocrine system Hernia Pulmonic stenosis Joint laxity Conductive hearing impairment Autism Short neck Proptosis Abnormal heart morphology Postnatal growth retardation Patent ductus arteriosus Vestibular Schwannoma Dural ectasia Pectus excavatum Inguinal hernia Iris coloboma Downslanted palpebral fissures Pituitary adenoma Atrial septal defect Abnormality of the dentition Hyperactivity Behavioral abnormality Hirsutism High palate Unsteady gait Abnormality of the middle ear ossicles Basilar impression Malar flattening Postural instability Long philtrum Large sella turcica Vertigo Kyphosis Dyspnea Short nasal bridge High, narrow palate Increased serum lactate Motor delay Episodic paroxysmal anxiety Spastic tetraplegia Increased CSF lactate Wolff-Parkinson-White syndrome Sensorineural hearing impairment Feeding difficulties Gait disturbance Palpitations Sclerosis of skull base Vocal cord paralysis Neoplasm of the lung Emphysema Dysphonia Cranial nerve paralysis Hoarse voice Chronic obstructive pulmonary disease Generalized osteosclerosis Biconcave vertebral bodies Scarring Coarse hair Arnold-Chiari malformation Sleep apnea Ragged-red muscle fibers Osteolysis Microretrognathia Wormian bones Increased bone mineral density Hyperlordosis Narrow face Abnormal vertebral morphology Abnormal form of the vertebral bodies Dolichocephaly Joint hyperflexibility Tetraplegia Smooth philtrum Abnormality of the skin Atresia of the external auditory canal Nasal speech Platybasia Hydronephrosis Low back pain Urinary incontinence Posteriorly rotated ears Umbilical hernia Abnormality of the rib cage Craniofacial hyperostosis Osteolytic defects of the phalanges of the hand Meningocele Apnea Arachnoid cyst Arnold-Chiari type I malformation Syringomyelia Prominent metopic ridge Thickened calvaria Slender long bone Telecanthus Vertebral fusion Intention tremor Skeletal muscle hypertrophy Pulsatile tinnitus Neoplasm of the pancreas Neoplasm of the breast Enlarged polycystic ovaries Multiple lentigines Red hair Hypoplasia of the musculature Stomach cancer Ovarian cyst Thyroid carcinoma Prolactin excess Growth hormone excess Testicular neoplasm Ovarian neoplasm Colon cancer Hypermelanotic macule Polycystic ovaries Neoplasm of the skin Subcutaneous nodule Nevus Sudden cardiac death Stroke Congestive heart failure Pituitary prolactin cell adenoma Adrenocortical carcinoma Severe platyspondyly Pigmented micronodular adrenocortical disease Abnormality of circulating adrenocorticotropin level Thyroid follicular hyperplasia Sertoli cell neoplasm Pigmentation of the sclera Abnormal pigmentation of the oral mucosa Peripheral Schwannoma Profuse pigmented skin lesions Blue nevus Hepatocellular adenoma Cardiac myxoma Thyroid adenoma Histiocytoma Bronchogenic cyst Uterine neoplasm Nodular goiter Fibroadenoma of the breast Increased urinary cortisol level Pituitary growth hormone cell adenoma Abnormal prolactin level Osteochondroma Pancreatic adenocarcinoma Absent anterior chamber of the eye Phthisis bulbi Chemodectoma Short thumb Abnormality of the cerebral white matter Carcinoma Chromosomal breakage induced by crosslinking agents Acute monocytic leukemia Aplastic anemia Chromosome breakage Acute myeloid leukemia Bone marrow hypocellularity Hyperpigmentation of the skin Anal atresia Impaired pain sensation Small for gestational age Gastric leiomyosarcoma Pulmonary chondroma Glomus tympanicum paraganglioma Vagal paraganglioma Elevated circulating catecholamine level Loss of voice Hypoplastic right heart Glomus jugular tumor Extraadrenal pheochromocytoma Multiple lipomas Myelomeningocele Iris atrophy Congenital cataract Retinoblastoma Vitreous hemorrhage Retinal dysplasia Barrel-shaped chest Vitreoretinopathy Pathologic fracture Metaphyseal widening Increased susceptibility to fractures Inability to walk Platyspondyly Communicating hydrocephalus Corneal opacity Microphthalmia Muscle weakness Hemiareflexia Hemifacial hypertrophy Hepatoblastoma Asymmetry of the thorax Asymmetric growth Adrenocortical adenoma Hemihypertrophy Poor speech Night sweats Abnormal pyramidal sign Self-mutilation Abnormality of refraction Flared iliac wings Dyslexia Short attention span Hypoplastic iliac wing Low hanging columella Capillary hemangioma Obstructive sleep apnea Patellar dislocation Abnormal cornea morphology Poor coordination Shawl scrotum Dislocated radial head Congenital glaucoma Truncal obesity Delayed cranial suture closure Broad hallux Impulsivity Laryngomalacia Avascular necrosis of the capital femoral epiphysis Broad distal phalanx of finger Spina bifida occulta Dyscalculia Deviated nasal septum Premature thelarche Narrow maxilla Large foramen magnum Agoraphobia Bifid uterus Vascular ring Duplication of phalanx of hallux Chorioretinal dystrophy Phonophobia Keloids Duane anomaly Prominent fingertip pads Frontal upsweep of hair Bimanual synkinesia Short upper lip Parietal foramina Abnormality of the cervical spine Facial grimacing Recurrent upper respiratory tract infections Low anterior hairline Enlarged tonsils Delayed skeletal maturation Retrognathia Gastroesophageal reflux Polyhydramnios Narrow mouth Polydactyly Agenesis of corpus callosum Constipation Clinodactyly of the 5th finger Arrhythmia Thin upper lip vermilion Hypospadias Immunodeficiency Syndactyly Respiratory distress Dysphagia Frontal bossing Wide nasal bridge Hyperreflexia Flexion contracture Pes planus EEG abnormality Wide anterior fontanel Dental malocclusion Exotropia Stereotypy Long eyelashes Hypoplasia of dental enamel Broad thumb Mitral regurgitation Convex nasal ridge Otitis media Prominent nose Hypoplasia of the maxilla Deeply set eye Single transverse palmar crease Highly arched eyebrow Thick eyebrow Coloboma Respiratory tract infection Abnormality of the pinna Feeding difficulties in infancy Abnormality of the kidney Intellectual disability, moderate Talon cusp Papillary cystadenoma of the epididymis Reduced visual acuity Renal phosphate wasting Pseudoarthrosis Soft tissue sarcoma Epigastric pain Fibular bowing Gastrointestinal stroma tumor Neoplasm of the central nervous system Lisch nodules Chronic myelogenous leukemia Carcinoid tumor Renal artery stenosis Anomalous pulmonary venous return Complete atrioventricular canal defect Aqueductal stenosis Astrocytoma Brain neoplasm Myocardial fibrosis Gangrene Increased reactive oxygen species production Severe vision loss Single ventricle Renovascular hypertension Osteomalacia Cerebral artery stenosis Gait ataxia Obesity Tremor Optic atrophy Spasticity Nystagmus Ataxia Brow ptosis Tibial pseudoarthrosis Arterial fibromuscular dysplasia Axillary freckling Spinal neurofibromas Inguinal freckling Plexiform neurofibroma Acute promyelocytic leukemia Subcutaneous neurofibromas Optic nerve glioma Neurofibrosarcoma Neuroma Embryonal rhabdomyosarcoma Renal cell carcinoma Multiple cafe-au-lait spots High axial triradius Weight loss Genu valgum Malabsorption Pruritus Attention deficit hyperactivity disorder Paralysis Autistic behavior Hypertrophic cardiomyopathy Hypoglycemia Visual loss Peripheral axonal neuropathy Depressivity Dilatation Headache Cardiomyopathy Respiratory insufficiency Macrocephaly Plantar crease between first and second toes Radial deviation of thumb terminal phalanx Abnormal number of teeth Paresthesia Abnormality of skin pigmentation Freckling Venous thrombosis Tibial bowing Pulmonary fibrosis Hypophosphatemia Sensory axonal neuropathy Clitoral hypertrophy Precocious puberty Sarcoma Breast carcinoma Reduced bone mineral density Atherosclerosis Lymphoma Spina bifida Sensorimotor neuropathy Bone pain Hypsarrhythmia Mitral valve prolapse Abnormality of the cardiovascular system Tetralogy of Fallot Specific learning disability Gastrointestinal hemorrhage Intra-oral hyperpigmentation



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Optic atrophy and Febrile seizures, related diseases and genetic alterations Brachydactyly and Intellectual disability, profound, related diseases and genetic alterations Tremor and Toe syndactyly, related diseases and genetic alterations Edema and Renal insufficiency, related diseases and genetic alterations Muscle weakness and Abnormal heart morphology, related diseases and genetic alterations Nystagmus and Intrauterine growth retardation, related diseases and genetic alterations Scoliosis and Abdominal pain, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more