Intellectual disability, and Pheochromocytoma

Diseases related with Intellectual disability and Pheochromocytoma

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

Top matches:

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

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

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

Other less relevant matches:

Familial hyperinsulinism, also referred to as congenital hyperinsulinism, nesidioblastosis, or persistent hyperinsulinemic hypoglycemia of infancy (PPHI), is the most common cause of persistent hypoglycemia in infancy and is due to defective negative feedback regulation of insulin secretion by low glucose levels. Unless early and aggressive intervention is undertaken, brain damage from recurrent episodes of hypoglycemia may occur (Thornton et al., 1998). Genetic Heterogeneity of Hyperinsulinemic HypoglycemiaHHF2 (OMIM ) is caused by mutation in the KCNJ11 gene (OMIM ) on chromosome 11p15. HHF3 (OMIM ) is caused by mutation in the glucokinase gene (GCK ) on chromosome 7p13. HHF4 (OMIM ) is caused by mutation in the HADH gene (OMIM ) on chromosome 4q25. HHF5 (OMIM ) is caused by mutation in the insulin receptor gene (INSR ) on chromosome 19p13. HHF6 (OMIM ) is caused by mutation in the GLUD1 gene (OMIM ) on chromosome 10q23. HHF7 (OMIM ) is caused by mutation in the SLC16A1 (OMIM ) on chromosome 1p13. There is evidence of further genetic heterogeneity of HHF.

HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1; HHF1 Is also known as persistent hyperinsulinemic hypoglycemia of infancy|hyperinsulinism, congenital|hyperinsulinemic hypoglycemia due to focal adenomatous hyperplasia|hypoglycemia, hyperinsulinemic, of infancy|hyperinsulinism, familial, with pancreatic nesidioblastosis|phhi|

Related symptoms:

  • Intellectual disability
  • Neoplasm
  • Diabetes mellitus
  • Hypoglycemia
  • Coma


SOURCES: OMIM MENDELIAN

More info about HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1; HHF1

Multiple endocrine neoplasia type IIB (MEN2B) is an autosomal dominant hamartoneoplastic syndrome characterized by aggressive medullary thyroid carcinoma (MTC), pheochromocytoma, mucosal neuromas, and thickened corneal nerves. Most affected individuals have characteristic physical features, including full lips, thickened eyelids, high-arched palate, and marfanoid habitus. Other more variable features include skeletal anomalies and gastrointestinal problems (review by Morrison and Nevin, 1996).For a discussion of genetic heterogeneity of multiple endocrine neoplasia (MEN), see MEN1 (OMIM ).

MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB; MEN2B Is also known as men iib|multiple endocrine neoplasia, type iii, formerly|wagenmann-froboese syndrome|men3, formerly|neuromata, mucosal, with endocrine tumors

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Neoplasm


SOURCES: OMIM MENDELIAN

More info about MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB; MEN2B

Gardner syndrome is a severe form of familial adenomatous polyposis characterized by multiple adenomas in the colon and rectum associated with prominent extracolonic features including osteomas and multiple skin and soft tissue tumors.

Related symptoms:


SOURCES: ORPHANET MENDELIAN

More info about GARDNER SYNDROME

Familial adenomatous polyposis-1 is an autosomal dominant disorder characterized by predisposition to cancer. Affected individuals usually develop hundreds to thousands of adenomatous polyps of the colon and rectum, a small proportion of which will progress to colorectal carcinoma if not surgically treated. Gardner syndrome is a variant of FAP in which desmoid tumors, osteomas, and other neoplasms occur together with multiple adenomas of the colon and rectum (Nishisho et al., 1991).Rustgi (2007) reviewed the genetics of hereditary colon cancer, including APC. Genetic Heterogeneity of Familial Adenomatous PolyposisSee also autosomal recessive FAP2 (OMIM ), caused by mutation in the MUTYH gene (OMIM ) on chromosome 1p34; autosomal recessive FAP3 (OMIM ), caused by mutation in the NTHL1 gene (OMIM ) on chromosome 16p13; and autosomal recessive FAP4 (OMIM ), caused by mutation in the MSH3 gene (OMIM ) on chromosome 5q11.

FAMILIAL ADENOMATOUS POLYPOSIS 1; FAP1 Is also known as apc|familial polyposis of the colon|fpc|adenomatous polyposis of the colon|polyposis, adenomatous intestinal

Related symptoms:

  • Intellectual disability
  • Neoplasm
  • Abnormality of the dentition
  • Kyphoscoliosis
  • Carcinoma


SOURCES: OMIM ORPHANET MENDELIAN

More info about FAMILIAL ADENOMATOUS POLYPOSIS 1; FAP1

Familial progressive hyperpigmentation with or without hypopigmentation (FPHH) is characterized by diffuse hyperpigmentation of variable intensity sometimes associated with cafe-au-lait macules and larger hypopigmented ash-leaf macules. These features, which involve the face, neck, trunk, and limbs, are seen at birth or develop early in infancy (summary by Wang et al., 2009 and Amyere et al., 2011).Also see familial progressive hyperpigmentation (FPH1 ).

HYPERPIGMENTATION WITH OR WITHOUT HYPOPIGMENTATION, FAMILIAL PROGRESSIVE; FPHH Is also known as melanosis universalis hereditaria|hyperpigmentation, familial progressive, 2, formerly|muh|fph2, formerly

Related symptoms:

  • Intellectual disability
  • Growth delay
  • Neoplasm
  • Hyperkeratosis
  • Hypopigmentation of the skin


SOURCES: OMIM MENDELIAN

More info about HYPERPIGMENTATION WITH OR WITHOUT HYPOPIGMENTATION, FAMILIAL PROGRESSIVE; FPHH

Watson syndrome is an autosomal dominant disorder characterized by pulmonic stenosis, cafe-au-lait spots, decreased intellectual ability (Watson, 1967), and short stature (Partington et al., 1985). Most affected individuals have relative macrocephaly and Lisch nodules and about one-third of those affected have neurofibroma (Allanson et al., 1991).

WATSON SYNDROME; WTSN Is also known as cafe-au-lait spots with pulmonic stenosis|pulmonic stenosis with cafe-au-lait spots

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Macrocephaly
  • Pulmonic stenosis


SOURCES: OMIM MENDELIAN

More info about WATSON SYNDROME; WTSN

Spinal neurofibromatosis is an autosomal dominant disorder characterized by a high load of spinal tumors. These tumors may be asymptomatic or result in neurologic symptoms, including back pain, difficulty walking, and paresthesias. Spinal NF is considered to be a subtype of neurofibromatosis type I (NF1 ), which is an allelic disorder. Patients with spinal NF may or may not have the classic cutaneous cafe-au-lait pigmentary macules or ocular Lisch nodules typically observed in patients with classic NF1. Patients with spinal NF should be followed closely for spinal sequelae (summary by Burkitt Wright et al., 2013).

NEUROFIBROMATOSIS, FAMILIAL SPINAL Is also known as fsnf

Related symptoms:

  • Intellectual disability
  • Scoliosis
  • Neoplasm
  • Pain
  • Difficulty walking


SOURCES: MESH OMIM MENDELIAN

More info about NEUROFIBROMATOSIS, FAMILIAL SPINAL

Top 5 symptoms//phenotypes associated to Intellectual disability and Pheochromocytoma

Symptoms // Phenotype % cases
Neurofibromas Common - Between 50% and 80% cases
Neoplasm Common - Between 50% and 80% cases
Cafe-au-lait spot Common - Between 50% and 80% cases
Scoliosis Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Intellectual disability and Pheochromocytoma. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Multiple cafe-au-lait spots Freckling Lisch nodules Leukemia Neoplasm of the endocrine system Short stature Aganglionic megacolon Ptosis Carcinoma Pain Abnormal facial shape Pulmonic stenosis Abnormality of the dentition Subcutaneous neurofibromas

Rare Symptoms - Less than 30% cases

Astrocytoma Meningioma Hypoglycemia Overweight Precocious puberty Sarcoma Hyperpigmentation of the skin Coarctation of aorta Abnormality of the cardiovascular system Recurrent fractures Paresthesia Back pain Glioma Thyroid carcinoma Muscular hypotonia Medulloblastoma Thick eyebrow Intellectual disability, moderate Joint laxity Keloids Proptosis Constipation Pectus excavatum High palate Growth delay Rhabdomyosarcoma Hearing impairment Generalized hypotonia Spinal neurofibromas Inguinal freckling Plexiform neurofibroma Neuroma Axillary freckling Schwannoma Autism Nasolacrimal duct obstruction Kyphoscoliosis Brain neoplasm Hypertension Cryptorchidism Facial asymmetry Overgrowth Bicuspid aortic valve Abnormality of cardiovascular system morphology Intellectual disability, mild Macrocephaly Abnormality of the skeletal system Leiomyosarcoma Hydrocephalus Behavioral abnormality Hepatoblastoma Delayed speech and language development Adrenocortical adenoma Abnormal heart morphology Increased circulating cortisol level Glaucoma Visual loss Multiple lipomas Hyperactivity Talon cusp Deviated nasal septum Abnormal number of teeth Enlarged tonsils Premature thelarche Papillary cystadenoma of the epididymis Hypoglycemic seizures Narrow maxilla Pancreatic islet-cell hyperplasia Lower limb muscle weakness High axial triradius Abnormality of the pancreas Radial deviation of thumb terminal phalanx Hyperinsulinemia Maternal diabetes Paraparesis Neonatal hypoglycemia Large for gestational age Hyperglycemia Spastic paraparesis Hyperammonemia Plantar crease between first and second toes Large foramen magnum Type II diabetes mellitus Fasting hypoglycemia Syncope Coma Hyperinsulinemic hypoglycemia Diabetes mellitus Fibroadenoma of the breast Agoraphobia Obstructive sleep apnea Abnormality of refraction Flared iliac wings Dyslexia Short attention span Hypoplastic iliac wing Low hanging columella Capillary hemangioma Self-mutilation Abnormal cornea morphology Patellar dislocation Poor coordination Shawl scrotum Neuroblastoma Dislocated radial head Congenital glaucoma Truncal obesity Avascular necrosis of the capital femoral epiphysis Broad distal phalanx of finger Bifid uterus Duane anomaly Vascular ring Duplication of phalanx of hallux Insulinoma Dyscalculia Progressive spastic paraparesis Chorioretinal dystrophy Spinal cord tumor Prominent fingertip pads Phonophobia Frontal upsweep of hair Bimanual synkinesia Short upper lip Parietal foramina Abnormality of the cervical spine Facial grimacing Tethered cord Hypoglycemic coma Diarrhea Difficulty walking Duodenal adenocarcinoma Adenomatous colonic polyposis Odontoma Colon cancer Intestinal obstruction Hyperextensible skin Melanoma Horseshoe kidney Infertility Agenesis of permanent teeth Carious teeth Small intestine carcinoid Multiple mucosal neuromas Ganglioneuromatosis Prominent corneal nerve fibers Elevated urinary epinephrine Proximal femoral epiphysiolysis Chorioretinal atrophy Unerupted tooth Abnormality of the parathyroid gland Chondrosarcoma Cholangiocarcinoma Osteoma Colorectal polyposis Multiple impacted teeth Adrenocortical carcinoma Intestinal polyp Absent gallbladder Thoracic kyphoscoliosis Increased number of teeth Abdominal mass Papillary thyroid carcinoma Epidermoid cyst Multiple gastric polyps Stomach cancer Intestinal polyposis Neoplasm of the lung Desmoid tumors Nodular goiter Relative macrocephaly Photophobia Hemiparesis Thick lower lip vermilion Abnormality of the skin Polyneuropathy High, narrow palate Thick vermilion border Hyperlordosis Coarse facial features Goiter Vitiligo Pes cavus Kyphosis Multiple lentigines Myopathy Global developmental delay Progressive hyperpigmentation Subcutaneous nodule Failure to thrive in infancy Elevated calcitonin Medullary thyroid carcinoma Duodenal polyposis Schizencephaly Ganglioneuroma Congenital hypertrophy of retinal pigment epithelium Colonic diverticula Broad hallux Hyperkeratosis Parathyroid hyperplasia Macule Hypopigmentation of the skin Achalasia Flushing Disproportionate tall stature Acne Neoplasm of the skin Hypopigmented skin patches Delayed cranial suture closure Pes planus Impulsivity Venous thrombosis Hypophosphatemia Sensory axonal neuropathy Clitoral hypertrophy Incoordination Breast carcinoma Reduced bone mineral density Atherosclerosis Tibial bowing Spina bifida Sensorimotor neuropathy Bone pain Hypsarrhythmia Mitral valve prolapse Tetralogy of Fallot Specific learning disability Pulmonary fibrosis Osteomalacia Lymphoma Night sweats Fibular bowing Gastrointestinal stroma tumor Neoplasm of the central nervous system Chronic myelogenous leukemia Renal phosphate wasting Carcinoid tumor Paraganglioma Anomalous pulmonary venous return Renal cell carcinoma Complete atrioventricular canal defect Parathyroid adenoma Aqueductal stenosis Myocardial fibrosis Gangrene Increased reactive oxygen species production Severe vision loss Gastrointestinal hemorrhage Abnormality of skin pigmentation Epigastric pain Asymmetric growth Cognitive impairment Hypertelorism Hemiareflexia Hemifacial hypertrophy Embryonal neoplasm Asymmetry of the thorax Hemihypertrophy Visual impairment Communicating hydrocephalus Myelomeningocele Impaired pain sensation Skeletal muscle hypertrophy Nephroblastoma Inguinal hernia Hernia Anemia Peripheral neuropathy Peripheral axonal neuropathy Osteopenia Genu valgum Malabsorption Pruritus Attention deficit hyperactivity disorder Paralysis Autistic behavior Hypertrophic cardiomyopathy Weight loss Dysarthria Osteoporosis Depressivity Dilatation Headache Blindness Cardiomyopathy Respiratory insufficiency Dural ectasia Soft tissue sarcoma Laryngomalacia Postnatal growth retardation Iris coloboma Hirsutism Joint hypermobility Unsteady gait Coloboma Respiratory tract infection Abnormality of the pinna Single transverse palmar crease Feeding difficulties in infancy Abnormality of the kidney Deeply set eye EEG abnormality Thin upper lip vermilion Retrognathia Gastroesophageal reflux Highly arched eyebrow Hypoplasia of the maxilla Narrow mouth Dental crowding Recurrent upper respiratory tract infections Spina bifida occulta Narrow palate Low anterior hairline Wide anterior fontanel Exotropia Stereotypy Long eyelashes Dental malocclusion Hypoplasia of dental enamel Broad thumb Mitral regurgitation Low posterior hairline Convex nasal ridge Otitis media Prominent nose Polyhydramnios Polydactyly Pseudoarthrosis Arterial fibromuscular dysplasia Micrognathia Failure to thrive Microcephaly Brow ptosis Tibial pseudoarthrosis Cerebral artery stenosis Acute promyelocytic leukemia Cataract Optic nerve glioma Neurofibrosarcoma Vestibular Schwannoma Embryonal rhabdomyosarcoma Renovascular hypertension Renal artery stenosis Single ventricle Strabismus Low-set ears Agenesis of corpus callosum Atrial septal defect Clinodactyly of the 5th finger Delayed skeletal maturation Arrhythmia Patent ductus arteriosus Hypospadias Immunodeficiency Syndactyly Respiratory distress Flexion contracture Ventricular septal defect Dysphagia Frontal bossing Downslanted palpebral fissures Wide nasal bridge Hyperreflexia Epicanthus Symmetric spinal nerve root neurofibromas


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