Hypertelorism, and Prostate cancer

Diseases related with Hypertelorism and Prostate cancer

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

Top matches:

Congenital idiopathic hypogonadotropic hypogonadism (IHH) is a disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. Idiopathic hypogonadotropic hypogonadism can be caused by an isolated defect in gonadotropin-releasing hormone (GNRH ) release, action, or both. Other associated nonreproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss, occur with variable frequency. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism has been called 'Kallmann syndrome (KS),' whereas in the presence of a normal sense of smell, it has been termed 'normosmic idiopathic hypogonadotropic hypogonadism (nIHH)' (summary by Raivio et al., 2007). Because families have been found to segregate both KS and nIHH, the disorder is here referred to as 'hypogonadotropic hypogonadism with or without anosmia (HH).'Although HH was initially considered to be a monogenic disorder, the presence of marked locus heterogeneity, incomplete penetrance within pedigrees, and variable expressivity of pathogenic alleles, together with evidence for mutations in multiple genes in some affected individuals, resulted in a conceptual shift from monogenicity to an oligogenic framework in which a limited number of genes contribute pathogenic alleles to the genetic network responsible for the neuroendocrine control of human reproduction (Sykiotis et al., 2010). Genetic Heterogeneity of Hypogonadotropic Hypogonadism with or without AnosmiaOther forms of autosomal hypogonadotropic hypogonadism with or without anosmia include HH3 (OMIM ), caused by mutation in the PROKR2 gene (OMIM ); HH4 (OMIM ), caused by mutation in the PROK2 gene (OMIM ); HH5 (OMIM ), caused by mutation in the CHD7 gene (OMIM ); HH6 (OMIM ), caused by mutation in the FGF8 gene (OMIM ); HH7 (OMIM ), caused by mutation in the GNRHR gene (OMIM ); HH8 (OMIM ), caused by mutation in the KISS1R gene (OMIM ); HH9 (OMIM ), caused by mutation in the NELF gene (OMIM ); HH10 (OMIM ), caused by mutation in the TAC3 gene (OMIM ); HH11 (OMIM ), caused by mutation in the TACR3 gene (OMIM ); HH12 (OMIM ), caused by mutation in the GNRH1 gene (OMIM ); HH13 (OMIM ), caused by mutation in the KISS1 gene (OMIM ); HH14 (OMIM ), caused by mutation in the WDR11 gene (OMIM ); HH15 (OMIM ), caused by mutation in the HS6ST1 gene (OMIM ); HH16 (OMIM ), caused by mutation in the SEMA3A gene (OMIM ); HH17 (OMIM ), caused by mutation in the SPRY4 gene (OMIM ); HH18 (OMIM ), caused by mutation in the IL17RD gene (OMIM ); HH19 (OMIM ), caused by mutation in the DUSP6 gene (OMIM ); HH20 (OMIM ), caused by mutation in the FGF17 gene (OMIM ); HH21 (OMIM ), caused by mutation in the FLRT3 gene (OMIM ); HH22 (OMIM ), caused by mutation in the FEZF1 gene (OMIM ); HH23 (OMIM ), caused by mutation in the LHB gene (OMIM ); and HH24 (OMIM ), caused by mutation in the FSHB gene (OMIM ).There is also an X-linked form of the disorder (HH1 ), caused by mutation in the KAL1 gene (OMIM ).There is evidence that mutation in 2 or more of these genes can work in combination (oligogenicity) to produce GnRH-deficient conditions (summary by Chan, 2011). Sykiotis et al. (2010), for example, demonstrated that of patients with an identifiable coding sequence mutation in 1 of 8 genes responsible for isolated GnRH deficiency, 11% carried mutations in at least one other of these genes as well.To assess oligogenicity in hypogonadotropic hypogonadism, Miraoui et al. (2013) analyzed 350 HH probands of European descent for mutation in 17 HH-associated genes. Mutations were identified in 124 (35%) of the probands, and 24 (19%) of the mutation-positive probands carried at least 2 mutant alleles from different genes. Miraoui et al. (2013) noted that 23 of the 24 oligogenic cases involved at least 1 gene associated with the fibroblast growth factor (FGF) network (see {601513}).Dode et al. (2006) stated that loss-of-function mutations in the KAL1 (OMIM ) and FGFR1 genes account for approximately 20% of all cases of Kallmann syndrome and that mutations in the PROKR2 and PROK2 genes account for an additional 10%.Gurbuz et al. (2012) reviewed all causative mutations detected in multiplex families with normosmic hypogonadotropic hypogonadism over a 7-year period in Turkey. Mutations that segregated with disease were identified in 17 (77.2%) of 22 families studied, including mutations of the GNRHR gene in 7 (31.8%) of the families, TACR3 in 6 (27.2%), KISSR in 2 (9%), TAC3 in 1 (4.5%), and KISS1 in 1 (4.5%). Inheritance was autosomal recessive in all 17 families.Valdes-Socin et al. (2014) reviewed the reproductive, neurodevelopmental, and genetic aspects of hypogonadotropic hypogonadism in human pathology.

HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA; HH2 Is also known as kallmann syndrome 2|kal2

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Neoplasm
  • Sensorineural hearing impairment


SOURCES: OMIM MENDELIAN

More info about HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA; HH2

Spondylo-megaepiphyseal-metaphyseal dysplasia is a rare, genetic primary bone displasia characterized by disproportionate short stature with short, stiff neck and trunk and relatively long limbs, fingers and toes (which may present flexion contractures), severe vertebral body ossification delay (with frequent kyknodysostosis), markedly enlarged round epiphyses of the long bones, absent ossification of pubic bones and multiple pseudoepiphyses of the short tubular bones in hands and feet. Neurological manifestations resulting from cervical spine instability may be observed.

Related symptoms:

  • Short stature
  • Hypertelorism
  • Flexion contracture
  • Macrocephaly
  • Short neck


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about SPONDYLO-MEGAEPIPHYSEAL-METAPHYSEAL DYSPLASIA

Borjeson-Forssman-Lehmann syndrome (BFLS) is a rare X-linked obesity syndrome characterized by intellectual deficit, truncal obesity, characteristic facial features, hypogonadism, tapered fingers and short toes.

BORJESON-FORSSMAN-LEHMANN SYNDROME Is also known as mental retardation, x-linked, syndromic, borjeson-forssman-lehmann type|bfls|intellectual disability-epilepsy-endocrine disorders syndrome|borjeson syndrome|mrxsbfl|mental retardation, epilepsy, and endocrine disorders|borj

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about BORJESON-FORSSMAN-LEHMANN SYNDROME

Other less relevant matches:

Granulomatosis with polyangiitis is a small-vessel necrotizing vasculitis characterised by the association of inflammation of the vessel wall and peri- and extravascular granulomatosis.

GRANULOMATOSIS WITH POLYANGIITIS Is also known as wegener granulomatosis, formerly|gpa|wg, formerly

Related symptoms:

  • Seizures
  • Hearing impairment
  • Sensorineural hearing impairment
  • Pain
  • Visual impairment


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about GRANULOMATOSIS WITH POLYANGIITIS

Related symptoms:

  • Hypertelorism
  • Abnormality of the kidney
  • Short philtrum
  • Bulbous nose
  • Renal agenesis


SOURCES: OMIM MENDELIAN

More info about BIFID NOSE WITH OR WITHOUT ANORECTAL AND RENAL ANOMALIES; BNAR

Diamond-Blackfan anemia (DBA) is an inherited red blood cell aplasia that usually presents in the first year of life. The main features are normochromic macrocytic anemia, reticulocytopenia, and nearly absent erythroid progenitors in the bone marrow. Patients show growth retardation, and approximately 30 to 50% have craniofacial, upper limb, heart, and urinary system congenital malformations. The majority of patients have increased mean corpuscular volume, elevated erythrocyte adenosine deaminase activity, and persistence of hemoglobin F. However, some DBA patients do not exhibit these findings, and even in the same family, symptoms can vary between affected family members (summary by Landowski et al., 2013).For a discussion of genetic heterogeneity of Diamond-Blackfan anemia, see DBA1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Short stature
  • Growth delay
  • Hypertelorism
  • Low-set ears


SOURCES: MESH OMIM MENDELIAN

More info about DIAMOND-BLACKFAN ANEMIA 5; DBA5

Congenital dyserythropoietic anemia type IV (CDA IV) is a newly discovered form of CDA (see this term) characterized by ineffective erythropoiesis and hemolysis that leads to severe anemia at birth.

CONGENITAL DYSERYTHROPOIETIC ANEMIA TYPE IV Is also known as cda, type iv|cda type 4|congenital dyserythropoietic anemia due to klf1 mutation|cda iv|cdan4|congenital dyserythropoietic anemia type 4|cda type iv|cda due to klf1 mutation

Related symptoms:

  • Short stature
  • Hypertelorism
  • Anemia
  • Hepatomegaly
  • Cardiomyopathy


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL DYSERYTHROPOIETIC ANEMIA TYPE IV

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Hypertelorism
  • Micrognathia


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, X-LINKED 61; MRX61

Noonan syndrome is an autosomal dominant disorder characterized by short stature, craniofacial dysmorphism, short and/or webbed neck, cardiac abnormalities, cryptorchidism, and coagulation defects (summary by Yamamoto et al., 2015).For a phenotypic description and a discussion of genetic heterogeneity of Noonan syndrome, see NS1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Abnormal facial shape
  • Cryptorchidism


SOURCES: OMIM MENDELIAN

More info about NOONAN SYNDROME 9; NS9

HEART DEFECT-TONGUE HAMARTOMA-POLYSYNDACTYLY SYNDROME Is also known as ostravik-lindemann-solberg syndrome

Related symptoms:

  • Hypertelorism
  • Cryptorchidism
  • Abnormality of the skeletal system
  • Syndactyly
  • Patent ductus arteriosus


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about HEART DEFECT-TONGUE HAMARTOMA-POLYSYNDACTYLY SYNDROME

Top 5 symptoms//phenotypes associated to Hypertelorism and Prostate cancer

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Cryptorchidism Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Hearing impairment Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Hypertelorism and Prostate cancer. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Coarctation of aorta Micropenis

Rare Symptoms - Less than 30% cases

Gynecomastia Peripheral neuropathy Myocardial infarction Visual impairment Cardiomyopathy Ptosis Hypopituitarism Microcephaly Seizures Macrocephaly Short neck Amenorrhea Feeding difficulties Renal agenesis Oral cleft Abnormality of the skeletal system Delayed puberty Hypospadias Sensorineural hearing impairment Anemia Hypogonadism Nasal obstruction Recurrent intrapulmonary hemorrhage Inflammatory abnormality of the eye Cerebral ischemia Recurrent corneal erosions Abnormality of the hypothalamus-pituitary axis Abnormality of the nose Scleritis Concave nasal ridge Angina pectoris Elevated C-reactive protein level Episcleritis Increased inflammatory response Arteritis Periorbital edema Endocarditis Rhinorrhea Ocular pain Abnormal oral cavity morphology Subglottic stenosis Pleuritis Granulomatosis Neuritis Ureteral stenosis Tracheal stenosis Chronic obstructive pulmonary disease Restrictive ventilatory defect Myositis Sinusitis Purpura Conjunctivitis Vasculitis Meningitis Hoarse voice Skin ulcer Diplopia Cranial nerve paralysis Subcutaneous nodule Epistaxis Otitis media Gastrointestinal hemorrhage Chest pain Sensory neuropathy Nephropathy Pancreatitis Venous thrombosis Gangrene Petechiae Pulmonary infiltrates Hemoptysis Wheezing Pericarditis Glomerulopathy Elevated erythrocyte sedimentation rate Abnormality of the kidney Hemiplegia Pulmonary fibrosis Diabetes insipidus Intestinal obstruction Stridor Chronic otitis media Pleural effusion Glomerulonephritis Prostatitis Leukopenia Short philtrum Retrognathia Hyperkeratosis Abnormal cardiac septum morphology Pulmonic stenosis Webbed neck Sparse and thin eyebrow Sparse eyebrow Mild short stature Curly hair Hyperkeratosis pilaris Syndactyly Patent ductus arteriosus Abnormal heart morphology Pneumonia Polydactyly Toe syndactyly Abnormal facial shape Postaxial polydactyly Postaxial hand polydactyly Cutaneous syndactyly Hand polydactyly Broad hallux Cutaneous finger syndactyly Subvalvular aortic stenosis Complete atrioventricular canal defect Common atrium Hamartoma of tongue Duplication of phalanx of hallux Benign neoplasm of the central nervous system 2-3 finger syndactyly Imperforate hymen Downslanted palpebral fissures Fine hair Bulbous nose Edema Overlapping toe Anteriorly placed anus Rectovaginal fistula Bifid nose Rectal atresia Growth delay Low-set ears Ventricular septal defect Paresthesia Macrocytic anemia Increased mean corpuscular volume Reticulocytopenia Erythroid hypoplasia Hepatomegaly Splenomegaly Prominent nose Congenital hypoplastic anemia Poor speech Broad forehead Behavioral abnormality Wide nasal bridge Micrognathia Erythroid hyperplasia Normochromic anemia Hypertrophic cardiomyopathy Fetal distress Anemia of inadequate production Reticulocytosis Hyperbilirubinemia Wide anterior fontanel Hydrops fetalis Hematuria Dyspnea Nausea and vomiting Pseudoepiphyses of hand bones Genu varum Metaphyseal irregularity Metaphyseal dysplasia Disproportionate short stature Protuberant abdomen Disproportionate short-trunk short stature Hypoplastic ilia Stiff neck Abnormally ossified vertebrae Pseudoepiphyses Enlarged epiphyses Delayed pubic bone ossification Enchondroma Abnormality of the epididymis Generalized hypotonia Coxa vara Scoliosis Nystagmus Failure to thrive Strabismus Muscular hypotonia Cataract Skeletal muscle atrophy Intellectual disability, severe Abnormality of the dentition Kyphosis Obesity Hypothyroidism Macrotia Coarse facial features Short long bone Short ribs Deeply set eye Choanal atresia Neoplasm Cleft palate Abnormality of cardiovascular system morphology Clinodactyly Agenesis of corpus callosum Osteopenia Abnormality of the nervous system Cleft lip Coloboma Cleft upper lip Iris coloboma Vesicoureteral reflux Hypotelorism Primary amenorrhea Hypogonadotrophic hypogonadism Genu valgum Holoprosencephaly Anosmia Reduced number of teeth Unilateral renal agenesis Ectrodactyly Thromboembolism Hyposmia Gonadotropin deficiency Microphallus Bimanual synkinesia Flexion contracture Severe short stature Skeletal dysplasia EEG abnormality Intellectual disability, moderate Papule Arrhythmia Shortening of all middle phalanges of the fingers Cervical spinal canal stenosis Widely spaced toes Hypoplasia of the prostate Scheuermann-like vertebral changes Pain Hypertension Fever Fatigue Respiratory insufficiency Respiratory distress Renal insufficiency Headache Visual loss Recurrent respiratory infections Diabetic ketoacidosis Abdominal pain Weight loss Proptosis Arthralgia Myalgia Hydronephrosis Arthritis Proteinuria Paralysis Autoimmunity Retinopathy Skin rash Stroke Cough Moderately short stature Long ear Feeding difficulties in infancy Short toe Abnormality of the pinna Sparse hair Blepharophimosis Hypermetropia Joint hyperflexibility Thick eyebrow Tapered finger Full cheeks Decreased testicular size Narrow forehead Hypoplasia of penis Hypertrichosis Heterotopia Hyperpigmentation of the skin Hypergonadotropic hypogonadism Camptodactyly of toe Thickened calvaria Shortening of all distal phalanges of the fingers Large earlobe Short 5th finger Ketoacidosis Broad neck Broad foot Abnormality of the hip bone Narrow palpebral fissure External genital hypoplasia Truncal obesity Abnormality of neuronal migration Hammertoe Prominent supraorbital ridges Scrotal hypoplasia Cor triatriatum


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Brachydactyly and Subcutaneous nodule, related diseases and genetic alterations Hydrocephalus and Agenesis of corpus callosum, related diseases and genetic alterations Edema and Renal insufficiency, related diseases and genetic alterations Ptosis and Hypothyroidism, related diseases and genetic alterations Nystagmus and Hypotension, related diseases and genetic alterations