Carcinoma, and Micropenis

Diseases related with Carcinoma and Micropenis

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


Top matches:

High match PAPILLOMA OF CHOROID PLEXUS; CPP


Choroid plexus tumors are of neuroectodermal origin and range from benign choroid plexus papillomas (CPPs) to malignant choroid carcinomas (CPCs). These rare tumors generally occur in childhood, but have also been reported in adults. Patients typically present with signs and symptoms of increased intracranial pressure including headache, hydrocephalus, papilledema, nausea, vomiting, cranial nerve deficits, gait impairment, and seizures (summary by Safaee et al., 2013).

PAPILLOMA OF CHOROID PLEXUS; CPP Is also known as choroid plexus papilloma

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hypertelorism
  • Neoplasm
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about PAPILLOMA OF CHOROID PLEXUS; CPP

High match WERNER SYNDROME


Werner syndrome (WS) is a rare inherited syndrome characterized by premature aging with onset in the third decade of life and with cardinal clinical features including bilateral cataracts, short stature, graying and thinning of scalp hair, characteristic skin disorders and premature onset of additional age-related disorders.

WERNER SYNDROME Is also known as ws|adult progeria

Related symptoms:

  • Short stature
  • Neoplasm
  • Pain
  • Cataract
  • Visual impairment


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about WERNER SYNDROME

High match BLEPHAROPHIMOSIS-INTELLECTUAL DISABILITY SYNDROME, MKB TYPE


BLEPHAROPHIMOSIS-INTELLECTUAL DISABILITY SYNDROME, MKB TYPE Is also known as bmrs, mkb type|bmrs, maat-kievit-brunner type|blepharophimosis-intellectual disability syndrome, maat-kievit-brunner type|blepharophimosis-mental retardation syndrome, maat-kievit-brunner type|x-linked ohdo syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Micrognathia
  • Cryptorchidism


SOURCES: ORPHANET OMIM MENDELIAN

More info about BLEPHAROPHIMOSIS-INTELLECTUAL DISABILITY SYNDROME, MKB TYPE

Mendelian

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

Learn more

Other less relevant matches:

High match PALMOPLANTAR KERATODERMA-XX SEX REVERSAL-PREDISPOSITION TO SQUAMOUS CELL CARCINOMA SYNDROME


Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome is characterised by sex reversal in males with a 46, XX (SRY-negative) karyotype, palmoplantar hyperkeratosis and a predisposition to squamous cell carcinoma. To date, five cases (four of whom were brothers) have been described. The aetiology is unknown.

PALMOPLANTAR KERATODERMA-XX SEX REVERSAL-PREDISPOSITION TO SQUAMOUS CELL CARCINOMA SYNDROME Is also known as palmoplantar hyperkeratosis-xx sex reversal-predisposition to squamous cell carcinoma syndrome

Related symptoms:

  • Hearing impairment
  • Strabismus
  • Hypospadias
  • Hyperkeratosis
  • Carcinoma


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about PALMOPLANTAR KERATODERMA-XX SEX REVERSAL-PREDISPOSITION TO SQUAMOUS CELL CARCINOMA SYNDROME

High match XERODERMA PIGMENTOSUM


Xeroderma pigmentosum (XP) is a rare genodermatosis characterized by extreme sensitivity to ultraviolet (UV)-induced changes in the skin and eyes, and multiple skin cancers. It is subdivided into 8 complementation groups, according to the affected gene: classical XP (XPA to XPG) and XP variant (XPV) (see these terms).

XERODERMA PIGMENTOSUM Is also known as xeroderma pigmentosum i|xp1|xp, group a|xp

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about XERODERMA PIGMENTOSUM

High match HOYERAAL-HREIDARSSON SYNDROME


Hoyeraal-Hreidarsson syndrome (HHS) is a very rare X-linked recessive disorder considered to be a severe variant of dyskeratosis congenita (see this term) characterized by intrauterine growth retardation, microcephaly, cerebellar hypoplasia, progressive combined immune deficiency and aplastic anemia.

HOYERAAL-HREIDARSSON SYNDROME Is also known as progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome|zinsser-cole-engman syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about HOYERAAL-HREIDARSSON SYNDROME

Medium match COSTELLO SYNDROME


Costello syndrome (CS) is a rare multisystemic disorder characterized by failure to thrive, short stature, developmental delay or intellectual disability, joint laxity, soft skin, and distinctive facial features. Cardiac and neurological involvement is common and there is an increased lifetime risk of certain tumors.

COSTELLO SYNDROME Is also known as fcs syndrome|faciocutaneoskeletal syndrome

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about COSTELLO SYNDROME

Medium match ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY


Congenital adrenal hyperplasia (CAH) results from a deficiency in one or another of the enzymes of cortisol biosynthesis. In about 95% of cases, 21-hydroxylation is impaired in the zona fasciculata of the adrenal cortex so that 17-hydroxyprogesterone (17-OHP) is not converted to 11-deoxycortisol. Because of defective cortisol synthesis, ACTH levels increase, resulting in overproduction and accumulation of cortisol precursors, particularly 17-OHP, proximal to the block. This causes excessive production of androgens, resulting in virilization.Slominski et al. (1996) presented evidence that the CYP21A2, CYP11A1 (OMIM ), CYP17 (OMIM ), and ACTHR (OMIM ) genes are expressed in skin (see {202200}). The authors suggested that expression of these genes may play a role in skin physiology and pathology and that cutaneous proopiomelanocortin activity may be autoregulated by a feedback mechanism involving glucocorticoids synthesized locally.

ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY Is also known as cyp21 deficiency|21-hydroxylase deficiency|congenital adrenal hyperplasia 1|cah1|adrenal hyperplasia iii

Related symptoms:

  • Short stature
  • Neoplasm
  • Hypertension
  • Fever
  • Obesity


SOURCES: OMIM MENDELIAN

More info about ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY

Medium match ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO


Ornithine transcarbamylase deficiency is an X-linked inborn error of metabolism of the urea cycle which causes hyperammonemia. The disorder is treatable with supplemental dietary arginine and low protein diet.Urea cycle disorders are characterized by the triad of hyperammonemia, encephalopathy, and respiratory alkalosis. Five disorders involving different defects in the biosynthesis of the enzymes of the urea cycle have been described: OTC deficiency, carbamyl phosphate synthetase deficiency (OMIM ), argininosuccinate synthetase deficiency, or citrullinemia (OMIM ), argininosuccinate lyase deficiency (OMIM ), and arginase deficiency (OMIM ).

ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO Is also known as ornithine carbamoyltransferase deficiency|otc deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Ataxia
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO

Medium match HEMOCHROMATOSIS, TYPE 1; HFE1


Hereditary hemochromatosis is an autosomal recessive disorder of iron metabolism wherein the body accumulates excess iron (summary by Feder et al., 1996). Excess iron is deposited in a variety of organs leading to their failure, and resulting in serious illnesses including cirrhosis, hepatomas, diabetes, cardiomyopathy, arthritis, and hypogonadotropic hypogonadism. Severe effects of the disease usually do not appear until after decades of progressive iron loading. Removal of excess iron by therapeutic phlebotomy decreases morbidity and mortality if instituted early in the course of the disease. Classic hemochromatosis (HFE) is most often caused by mutation in a gene designated HFE on chromosome 6p21.3.Adams and Barton (2007) reviewed the clinical features, pathophysiology, and management of hemochromatosis. Genetic Heterogeneity of HemochromatosisAt least 4 additional iron overload disorders labeled hemochromatosis have been identified on the basis of clinical, biochemical, and genetic characteristics. Juvenile hemochromatosis, or hemochromatosis type 2 (HFE2), is autosomal recessive and is divided into 2 forms: HFE2A (OMIM ), caused by mutation in the HJV gene (OMIM ) on chromosome 1q21, and HFE2B (OMIM ), caused by mutation in the HAMP gene (OMIM ) on chromosome 19q13. Hemochromatosis type 3 (HFE3 ), an autosomal recessive disorder, is caused by mutation in the TFR2 gene (OMIM ) on chromosome 7q22. Hemochromatosis type 4 (HFE4 ), an autosomal dominant disorder, is caused by mutation in the SLC40A1 gene (OMIM ) on chromosome 2q32. Hemochromatosis type 5 (HFE5 ) is caused by mutation in the FTH1 gene (OMIM ) on chromosome 11q12.

HEMOCHROMATOSIS, TYPE 1; HFE1 Is also known as hfe|hemochromatosis, hereditary|hemochromatosis|hh

Related symptoms:

  • Ataxia
  • Neoplasm
  • Pain
  • Anemia
  • Hepatomegaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about HEMOCHROMATOSIS, TYPE 1; HFE1

Top 5 symptoms//phenotypes associated to Carcinoma and Micropenis

Symptoms // Phenotype % cases
Neoplasm Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Seizures Uncommon - Between 30% and 50% cases
Cryptorchidism Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

Patients with Carcinoma and Micropenis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Alopecia Ataxia Strabismus Abnormality of the dentition Hyperkeratosis Osteoporosis Hypogonadism Hearing impairment Global developmental delay Decreased testicular size Squamous cell carcinoma Failure to thrive Hypospadias Dermal atrophy Papilloma Decreased body weight Feeding difficulties Depressed nasal bridge Telangiectasia Hyperpigmentation of the skin Peripheral neuropathy Hypertension Cataract Cerebral cortical atrophy Growth delay Anemia Osteopenia

Rare Symptoms - Less than 30% cases


Postnatal growth retardation Lack of skin elasticity Fatigue Pleural effusion Amenorrhea Generalized hyperpigmentation Azoospermia Conjunctivitis Testicular atrophy Abnormality of the testis Blepharitis Progeroid facial appearance Micrognathia Myeloid leukemia Telangiectasia of the skin Hepatic failure Decreased fertility Premature graying of hair Pterygium Rocker bottom foot Abnormality of the thorax Acute hepatic failure Myelodysplasia Thick lower lip vermilion Bone marrow hypocellularity Cognitive impairment Ptosis Delayed skeletal maturation Cirrhosis Irritability Gynecomastia Sepsis Hyperhidrosis Gliosis Ambiguous genitalia Microcephaly Nail dystrophy Scoliosis Sarcoma Hyporeflexia Clitoral hypertrophy Arthralgia Cafe-au-lait spot Mental deterioration Ventriculomegaly Joint hypermobility Fever Generalized hypotonia Smooth philtrum Spasticity Coarse facial features Long philtrum Optic atrophy Premature loss of teeth Laryngomalacia Abnormal heart morphology Coma Hypopigmentation of the skin Leukemia Ascites Cerebral atrophy Proptosis Epicanthus Abnormality of cardiovascular system morphology Congestive heart failure Visual impairment Pain Choroid plexus papilloma Osteosarcoma Arrhythmia Macroglossia Cardiomyopathy Hypoglycemia Apnea Respiratory failure Recurrent infections Headache Vomiting Atrial septal defect Hydrocephalus Talipes equinovarus Abnormality of the skeletal system Low-set ears Abnormal facial shape Hypertelorism Edema Diabetes mellitus Sparse scalp hair Hepatomegaly Abnormality of the hair Hoarse voice Anteverted nares Insulin resistance Melanoma Deep palmar crease Joint hyperflexibility Hip dysplasia Hypermetropia Pulmonic stenosis Wide anterior fontanel Abnormality of the skin Megalencephaly Epidermal acanthosis Delayed puberty Astigmatism Arthrogryposis multiplex congenita Fragile nails Thickened nuchal skin fold Tachycardia Microscopic hematuria Severe postnatal growth retardation Wide nose Obstructive sleep apnea Soft skin Long eyelashes Pectus carinatum Labial hypoplasia Thick upper lip vermilion Asymmetric septal hypertrophy Redundant neck skin Apraxia Central apnea Verrucae Mitral valve prolapse Large forehead Achilles tendon contracture Eczema Sparse hair Atrial fibrillation Large earlobe Overgrowth Hypoplasia of dental enamel Woolly hair Barrel-shaped chest Neonatal hypoglycemia Abnormal mitral valve morphology Thick vermilion border Lymphedema Hematuria Infantile muscular hypotonia Full cheeks Nevus Neurodevelopmental delay Large for gestational age Tricuspid regurgitation Hypoplastic toenails Bilateral cryptorchidism Hyperglycemia Heart murmur Hemangioma Abnormal dermatoglyphics Aortic aneurysm Arnold-Chiari malformation Failure to thrive in infancy Redundant skin Pyloric stenosis Hyperextensible skin Poor suck Premature birth Webbed neck Tetraplegia Reduced subcutaneous adipose tissue Relative macrocephaly Central hypotonia Growth hormone deficiency Hydrops fetalis Pointed chin High, narrow palate Arnold-Chiari type I malformation Narrow palate Syringomyelia Abnormality of dental enamel Sleep disturbance Fasting hypoglycemia Cutis laxa Tracheomalacia Ulnar deviation of finger Postural instability Rhabdomyolysis Short chin Abnormality of the fingernails Neuroblastoma Acanthosis nigricans Curly hair Keratoconus Broad philtrum Vestibular Schwannoma Hypoplasia of teeth Pancreatitis Hyperglutaminemia Protein avoidance Hypoargininemia Respiratory alkalosis Oroticaciduria Paranoia Wide nasal base Episodic vomiting Cerebral edema Episodic ataxia Alkalosis Hyperammonemia Aciduria Low plasma citrulline Postaxial polydactyly Confusion Lethargy Stroke Thin upper lip vermilion Polydactyly Encephalopathy Reduced amygdala volume Premature pubarche Adrenocortical carcinoma Adrenogenital syndrome Abnormal spermatogenesis Episodic ammonia intoxication Splenomegaly Abnormality of the ovary Pericarditis Aceruloplasminemia Constrictive pericarditis Cholangiocarcinoma Increased serum iron Microvesicular hepatic steatosis Abnormal glucose tolerance Alcoholism Restrictive cardiomyopathy Neoplasm of the liver Increased reactive oxygen species production Increased serum ferritin Hepatocellular carcinoma Osteomalacia Abdominal pain Arthropathy Abnormal joint morphology Impotence Hypogonadotrophic hypogonadism Hepatic fibrosis Cardiomegaly Hepatitis Hepatic steatosis Dilated cardiomyopathy Abnormality of the liver Arthritis Elevated hepatic transaminase Congenital adrenal hyperplasia Astrocytoma Concave nail Melena Transitional cell carcinoma of the bladder Concentric hypertrophic cardiomyopathy Hypopnea Shyness Postprandial hyperglycemia Body odor Ulnar deviation of the wrist Duodenal ulcer Abnormal pulmonary valve morphology Bladder neoplasm Capillary malformation Triangular mouth Hematemesis Frontal hirsutism Deep plantar creases Thin nail Large face Bronchomalacia Fetal distress Limited elbow movement Abnormality of earlobe Schwannoma Broad femoral neck Rhabdomyosarcoma Hyperextensibility of the finger joints Pneumothorax Ganglioneuroblastoma Deep-set nails Renal salt wasting Systolic heart murmur Adrenal hyperplasia Lipoma Adrenal insufficiency Precocious puberty Polycystic ovaries Growth abnormality Recurrent urinary tract infections Abnormality of the cardiovascular system Hirsutism Infertility Obesity Increased corneal curvature Thickened Achilles tendon Embryonal rhabdomyosarcoma Congenital neuroblastoma Lymphangiectasis Alveolar rhabdomyosarcoma Tendon rupture Vitreomacular adhesion Myofiber disarray Enlarged cerebellum Macrocephaly at birth Loose anagen hair Cardiomyocyte hypertrophy Bladder carcinoma Neonatal sepsis Multifocal atrial tachycardia Wide mouth Esophageal stricture Feeding difficulties in infancy Cutaneous melanoma Aplasia/Hypoplasia of the testes Neoplasm of the oral cavity Premature arteriosclerosis Gastrointestinal carcinoma Neoplasm of the small intestine Subcutaneous calcification Poliosis Abnormal hair whorl Soft tissue sarcoma Chorioretinitis Narrow nasal ridge Wide nasal bridge Arteriosclerosis Enlarged joints Thyroid carcinoma White forelock Slender build Pili torti Chondrocalcinosis Peripheral arterial stenosis Abnormality of the cerebral vasculature Renal neoplasm Meningioma Acral lentiginous melanoma Clinodactyly Pulmonary artery stenosis Premature ovarian insufficiency EEG abnormality Photophobia Sensorineural hearing impairment Laryngeal carcinoma Orthokeratotic hyperkeratosis Premature loss of permanent teeth Sclerodactyly Palmoplantar hyperhidrosis Ovotestis Squamous cell carcinoma of the skin Sex reversal Palmoplantar hyperkeratosis Narrow mouth Hypercholesterolemia Hypertriglyceridemia Small nail Palmoplantar keratoderma Corneal opacity Scrotal hypoplasia Prominent nose Triangular face Bulbous nose Thin vermilion border Blepharophimosis Posterior subcapsular cataract Neoplasm of the lung Erythema Papilledema Nephropathy Retinal degeneration Retinopathy Joint stiffness Rod-cone dystrophy Behavioral abnormality Skeletal muscle atrophy Choroid plexus carcinoma Broad ribs Choanal stenosis Broad neck Upper limb undergrowth Chest pain Loss of consciousness Increased intracranial pressure Sleep apnea Hypertrichosis Delayed eruption of teeth Nausea Hydronephrosis High forehead Pneumonia Depressivity Midface retrusion Small hand Convex nasal ridge Alopecia of scalp Abnormality of the voice Subcapsular cataract Prematurely aged appearance Ovarian neoplasm Secondary amenorrhea Scleroderma Aplasia/Hypoplasia of the skin Lipoatrophy Polyphagia High pitched voice Polyuria Polydipsia Lipodystrophy Type II diabetes mellitus Breast carcinoma Atherosclerosis Macular degeneration Type I diabetes mellitus Spontaneous abortion Hypergonadotropic hypogonadism Increased bone mineral density Narrow face Skin ulcer Abnormality of retinal pigmentation Myocardial infarction Developmental regression Dry skin Low-set, posteriorly rotated ears Reticulated skin pigmentation Delayed speech and language development High palate Muscular hypotonia Nystagmus Anal mucosal leukoplakia Pterygium of nails Split nail Generalized hypopigmentation of hair Fragile teeth Brittle scalp hair Phimosis Dysarthria Abnormal leukocyte morphology Pancreatic adenocarcinoma Reticular hyperpigmentation Urethral stenosis Lacrimal duct stenosis Keratoconjunctivitis Excessive wrinkled skin Ridged nail Aplastic anemia Oral leukoplakia Chromosome breakage Motor delay Myopia Acute myeloid leukemia Pectus excavatum Intellectual disability, moderate Joint laxity Hypertrophic cardiomyopathy Abnormality of the nervous system Kyphoscoliosis Gastroesophageal reflux Polyhydramnios Posteriorly rotated ears Severe short stature Pes cavus Inguinal hernia Hernia Macrocephaly Absent speech Renal insufficiency Short nose Intellectual disability, mild Myopathy Short neck Respiratory insufficiency Ventricular septal defect Dysphagia Frontal bossing Downslanted palpebral fissures Hodgkin lymphoma Restrictive ventilatory defect Abnormality of extrapyramidal motor function Melanocytic nevus Neoplasm of the eye Defective DNA repair after ultraviolet radiation damage Ankyloblepharon Conjunctival telangiectasia Entropion Craniofacial hyperostosis Poikiloderma Freckling Macule Hypermelanotic macule Keratitis Ectropion Intrauterine growth retardation Hypopigmented skin patches Reduced tendon reflexes Neoplasm of the skin Intellectual disability, progressive Opacification of the corneal stroma Aminoaciduria Abnormal vertebral morphology Thickened skin Thin skin Choreoathetosis Cutaneous photosensitivity Flat nasal alae Respiratory distress Increased antibody level in blood Pancytopenia Abnormality of coagulation Pulmonary fibrosis Flared metaphysis Epiphora Neonatal respiratory distress Anosmia Abnormal intestine morphology Leukopenia Sparse eyelashes Horseshoe kidney Truncal ataxia Decreased fetal movement Hypertonia Oligohydramnios Cerebral calcification Gastrointestinal hemorrhage Abnormality of skin pigmentation Carious teeth Small for gestational age Muscular hypotonia of the trunk Hepatosplenomegaly Cerebellar hypoplasia Thrombocytopenia Immunodeficiency Elevated transferrin saturation



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Arthritis and Primary amenorrhea, related diseases and genetic alterations Ventricular septal defect and Abnormality of extrapyramidal motor function, related diseases and genetic alterations Autoimmunity and Photophobia, related diseases and genetic alterations Intellectual disability, severe and Agenesis of corpus callosum, related diseases and genetic alterations Hydrocephalus and Increased serum lactate, related diseases and genetic alterations Sensorineural hearing impairment and Gynecomastia, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more