Carcinoma, and Myoclonus

Diseases related with Carcinoma and Myoclonus

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


Top matches:

Medium match ATAXIA-TELANGIECTASIA


Ataxia-telangiectasia is the association of severe combined immunodeficiency (affecting mainly the humoral immune response) with progressive cerebellar ataxia. It is characterised by neurological signs, telangiectasias, increased susceptibility to infections and a higher risk of cancer.

ATAXIA-TELANGIECTASIA Is also known as at1|louis-bar syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Microcephaly
  • Scoliosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about ATAXIA-TELANGIECTASIA

Medium match BECKWITH-WIEDEMANN SYNDROME; BWS


Beckwith-Wiedemann syndrome is a pediatric overgrowth disorder involving a predisposition to tumor development. The clinical presentation is highly variable; some cases lack the hallmark features of exomphalos, macroglossia, and gigantism as originally described by Beckwith (1969) and Wiedemann (1969) (summary by Weksberg et al., 2010).Mussa et al. (2016) provided a review of Beckwith-Wiedemann syndrome, including the wide spectrum of phenotypic manifestations, delineation of the frequencies of manifestations according to genotype, and discussion of the molecular and epigenetic defects that underlie the disorder.

BECKWITH-WIEDEMANN SYNDROME; BWS Is also known as emg syndrome|exomphalos-macroglossia-gigantism syndrome|wiedemann-beckwith syndrome|wbs

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about BECKWITH-WIEDEMANN SYNDROME; BWS

Medium match GAMMA-GLUTAMYL TRANSPEPTIDASE DEFICIENCY


Gamma-glutamyl transpeptidase deficiency is characterized by increased glutathione concentration in the plasma and urine.

GAMMA-GLUTAMYL TRANSPEPTIDASE DEFICIENCY Is also known as glutathionuria|gtg deficiency|ggt deficiency|gamma-glutamyltransferase deficiency|gamma-glutamyltranspeptidase deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hypertelorism
  • Strabismus
  • Low-set ears


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about GAMMA-GLUTAMYL TRANSPEPTIDASE DEFICIENCY

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Other less relevant matches:

Medium match CITRULLINEMIA, TYPE II, ADULT-ONSET; CTLN2


Adult-onset type II citrullinemia is an autosomal recessive metabolic disorder characterized clinically by the sudden onset of various neuropsychologic symptoms such as disorientation, abnormal behavior, convulsions, and coma due to hyperammonemia. In some cases, rapid progression can lead to brain edema and death if liver transplantation is not possible. Some patients may present with nonalcoholic hepatic steatosis or may develop hepatic fibrosis or hepatocellular carcinoma. Patients with this disorder have a natural aversion to carbohydrates and favor protein, which is in contrast to protein aversion usually observed in patients with urea cycle defects (summary by Komatsu et al., 2008).

CITRULLINEMIA, TYPE II, ADULT-ONSET; CTLN2 Is also known as citrin deficiency

Related symptoms:

  • Seizures
  • Tremor
  • Edema
  • Vomiting
  • Diarrhea


SOURCES: ORPHANET OMIM MENDELIAN

More info about CITRULLINEMIA, TYPE II, ADULT-ONSET; CTLN2

Medium match IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 1; HIGM1


HIGM is a rare immunodeficiency characterized by normal or elevated serum IgM levels associated with markedly decreased IgG, IgA, and IgE, resulting in a profound susceptibility to bacterial infections and an increased susceptibility to opportunistic infections. Patients with X-linked HIGM also tend to have neutropenia, as well as a high rate of gastrointestinal and central nervous system infections, often resulting in severe liver disease and/or neurodegeneration (summary by Levy et al., 1997). Genetic Heterogeneity of Immunodeficiency with Hyper-IgMOther forms of HIGM include HIGM2 (OMIM ), which results from mutation in the AICDA gene (OMIM ), HIGM3 (OMIM ), which results from mutation in the CD40 gene (OMIM ), and HIGM5 (OMIM ), which results from mutation in the UNG gene (OMIM ). See also HIGM4 (OMIM ).

IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 1; HIGM1 Is also known as hyper-igm immunodeficiency, x-linked|hyper-igm syndrome 1|ihis|hyper-igm syndrome|xhim|imd3|higm|immunodeficiency 3

Related symptoms:

  • Seizures
  • Global developmental delay
  • Failure to thrive
  • Cognitive impairment
  • Anemia


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 1; HIGM1

Low match PHEOCHROMOCYTOMA


Pheochromocytomas are catecholamine-secreting tumors that usually arise within the adrenal medulla. Approximately 10% arise in extraadrenal sympathetic ganglia, and are referred to as 'paragangliomas.' Approximately 10% are malignant, and approximately 10% are hereditary (Maher and Eng, 2002; Dluhy, 2002).Bolande (1974) introduced the concept and designation of the neurocristopathies, and identified 'simple,' including pheochromocytoma and medullary carcinoma of the thyroid, and 'complex' neurocristopathies and neurocristopathic syndromes, including NF1 and MEN2.Knudson and Strong (1972) applied Knudson's 2-mutation theory to pheochromocytoma (see discussion in {180200}) and concluded that it fits.Maher and Eng (2002) reviewed the clinical entities and genes associated with pheochromocytoma.

PHEOCHROMOCYTOMA Is also known as pheochromocytoma, susceptibility to

Related symptoms:

  • Neoplasm
  • Hypertension
  • Tremor
  • Fatigue
  • Congestive heart failure


SOURCES: ORPHANET OMIM MENDELIAN

More info about PHEOCHROMOCYTOMA

Low 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

Low match COWDEN SYNDROME


Cowden syndrome (CS) is a difficult to recognize, under-diagnosed genodermatosis characterized by the presence of multiple hamartomas in various tissues and an increased risk for malignancies of the breast, thyroid, endometrium, kidney and colorectum. When CS is accompanied by germline PTEN mutations, it belongs to the PTEN hamartoma tumor syndrome (PHTS; see this term) group.

COWDEN SYNDROME Is also known as bzs|cowden disease|bbrs|macrocephaly, multiple lipomas, and hemangiomata|pten hamartoma tumor syndrome with granular cell tumor|bannayan-zonana syndrome|macrocephaly, pseudopapilledema, and multiple hemangiomata|cs|cd|mham|pten hamartoma tumor syndrome|ri

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about COWDEN SYNDROME

Low match FABRY DISEASE


Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations.

FABRY DISEASE Is also known as ceramide trihexosidase deficiency|hereditary dystopic lipidosis|fd|alpha-galactosidase a deficiency|diffuse angiokeratoma|gla deficiency|angiokeratoma corporis diffusum|anderson-fabry disease

Related symptoms:

  • Seizures
  • Short stature
  • Hearing impairment
  • Sensorineural hearing impairment
  • Pain


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about FABRY DISEASE

Low match RENAL CELL CARCINOMA, NONPAPILLARY; RCC


The Heidelberg histologic classification of renal cell tumors subdivides renal cell tumors into benign and malignant parenchymal neoplasms and, where possible, limits each subcategory to the most common documented genetic abnormalities (Kovacs et al., 1997). Malignant tumors are subclassified into common or conventional renal cell carcinoma (clear cell); papillary renal cell carcinoma; chromophobe renal cell carcinoma; collecting duct carcinoma, with medullary carcinoma of the kidney; and unclassified renal cell carcinoma. The common or conventional type accounts for about 75% of renal cell neoplasms and is characterized genetically by a highly specific deletion of chromosome 3p. Papillary renal cell carcinoma (see {605074}) accounts for about 10% of renal cell tumors. Chromophobe renal cell carcinoma accounts for approximately 5% of renal cell neoplasms. Genetically, chromophobe RCC is characterized by a combination of loss of heterozygosity of chromosomes 1, 2, 6, 10, 13, 17, and 21 and hypodiploid DNA content. Collecting duct carcinoma accounts for about 1% of renal cell carcinoma.Renal cell carcinoma occurs nearly twice as often in men as in women; incidence in the United States is equivalent among whites and blacks. Cigarette smoking doubles the likelihood of renal cell carcinoma and contributes to as many as one-third of cases. Obesity is also a risk factor, particularly in women. Other risk factors include hypertension, unopposed estrogen therapy, and occupational exposure to petroleum products, heavy metals, or asbestos (summary by Motzer et al., 1996). Genetic Heterogeneity of Renal Cell CarcinomaGermline mutation resulting in nonpapillary renal cell carcinoma of the clear cell and chromophobe type occurs in the HNF1A gene (OMIM ) and the HNF1B gene (OMIM ).Somatic mutations in renal cell carcinomas occur in the VHL gene (OMIM ), the TRC8 gene (OMIM ), the OGG1 gene (OMIM ), the ARMET gene (OMIM ), the FLCN gene (OMIM ), and the BAP1 gene (OMIM ).See also RCCX1 (OMIM ) for a discussion of renal cell carcinoma associated with translocations of chromosome Xp11.2 involving the TFE3 gene (OMIM ).For a discussion of papillary renal cell carcinoma, see RCCP1 (OMIM ). Occurrence of Renal Cell Carcinoma in Other DisordersVon Hippel-Lindau syndrome (OMIM ) is a familial multicancer syndrome in which there is a susceptibility to a variety of neoplasms, including renal cell carcinoma of clear cell histology and renal cysts. A syndrome of predisposition to uterine leiomyomas and papillary renal cell carcinoma has been reported (OMIM ). Medullary carcinoma of the kidney is believed to arise from the collecting ducts of the renal medulla and is associated with sickle cell trait (OMIM ) (Kovacs et al., 1997). Renal cell carcinoma occurs in patients with the Birt-Hogg-Dube syndrome (OMIM ).Bertolotto et al. (2011) identified a missense mutation in the MITF (OMIM ) gene that increases the risk of renal cell carcinoma with or without malignant melanoma (CMM8 ).

RENAL CELL CARCINOMA, NONPAPILLARY; RCC Is also known as hypernephroma|adenocarcinoma of kidney

Related symptoms:

  • Neoplasm
  • Hypertension
  • Obesity
  • Carcinoma
  • Falls


SOURCES: OMIM ORPHANET MENDELIAN

More info about RENAL CELL CARCINOMA, NONPAPILLARY; RCC

Top 5 symptoms//phenotypes associated to Carcinoma and Myoclonus

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Neoplasm Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Cognitive impairment Uncommon - Between 30% and 50% cases
Tremor Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Hearing impairment Hypertension Anemia Hepatocellular carcinoma Short stature Failure to thrive Diarrhea Cataract Global developmental delay Abnormality of the liver Abnormality of the kidney Intellectual disability, moderate Hypertelorism Pain Lymphoma Ataxia Melanoma Scoliosis Hypothyroidism Decreased antibody level in blood Cafe-au-lait spot Edema Intellectual disability, mild Telangiectasia Choreoathetosis Mucosal telangiectasiae Recurrent infections Strabismus Fever Peripheral neuropathy Immunodeficiency Telangiectasia of the skin Fatigue Conjunctival telangiectasia

Rare Symptoms - Less than 30% cases


Cellular immunodeficiency Sensorineural hearing impairment Decreased proportion of CD4-positive T cells Generalized hypotonia Cardiomyopathy Respiratory insufficiency Hepatomegaly Macrocephaly Renal cell carcinoma Recurrent lower respiratory tract infections Renal neoplasm Chronic hepatitis Hypoplasia of the thymus Cryptorchidism IgE deficiency Behavioral abnormality Atrial septal defect Hyperhidrosis Weight loss Aniridia Obesity Chronic diarrhea Hamartoma Nephroblastoma Prominent supraorbital ridges Overgrowth Congestive heart failure Macroglossia Abdominal distention Renal cyst Midface retrusion Proteinuria Joint hypermobility Nausea Conductive hearing impairment Tachycardia Hematuria Chest pain Palpitations Low-set ears Hemangioma Hyperactivity Glomerulosclerosis Coarse facial features Vomiting Hodgkin lymphoma Melanocytic nevus Reduced tendon reflexes Subcutaneous nodule Lymphopenia Abnormal vertebral morphology Intention tremor Aminoaciduria Nausea and vomiting Papule Neoplasm of the skin Abnormal cerebellum morphology Hypopigmented skin patches Delayed puberty Leukemia Breast carcinoma Dilatation Headache Anxiety IgA deficiency Macule Papilloma Skeletal muscle atrophy Dysarthria Spasticity Muscle weakness Microcephaly Developmental regression Elevated hepatic transaminase Hyperkeratosis Optic atrophy Arthralgia Multiple cafe-au-lait spots Hydrocele testis Conjunctival hamartoma Constipation Brachydactyly Arrhythmia Depressivity Multiple lipomas Renal insufficiency Lobular carcinoma in situ Multiple trichilemmomata Merkel cell skin cancer Ductal carcinoma in situ Dysplastic gangliocytoma of the cerebellum Abdominal pain Trichilemmoma Enlarged cerebellum Cystic hygroma Hand polydactyly Cutis marmorata telangiectatica congenita Fibroadenoma of the breast Myopia Neoplasm of the thyroid gland Transitional cell carcinoma of the bladder Acrokeratosis Pseudopapilledema Progressive macrocephaly Colorectal polyposis Posteriorly rotated ears Mandibular prognathia Dyspnea Vertigo Motor delay Urinary incontinence Syncope Abnormality of the thyroid gland Sudden cardiac death Muscle cramps Cutis marmorata Nephropathy Thick vermilion border Thick eyebrow Bulbous nose Stage 5 chronic kidney disease Paresthesia Endometrial carcinoma Malabsorption Abnormality of the cerebral white matter Pruritus Corneal opacity Prominent nasal bridge Cough Stroke Skin rash Hypertrophic cardiomyopathy Abnormality of the nervous system Arthritis Myalgia Downslanted palpebral fissures Varicocele Frontal bossing Intestinal polyposis Lipoma Enlarged polycystic ovaries Abnormality of the vasculature Cavernous hemangioma Polymicrogyria Long penis Palmoplantar keratoderma Hypoplasia of the maxilla Broad thumb Bone cyst Papilledema Prolactin excess Skin tags Scaphocephaly Exotropia Gynecomastia Cranial nerve paralysis Ovarian cyst Astrocytoma Goiter Megalencephaly Meningioma Drooling Hypotension Increased intracranial pressure Furrowed tongue Proximal muscle weakness Hashimoto thyroiditis Follicular thyroid carcinoma Myopathy Arteriovenous malformation Thyroid adenoma Intestinal polyp Ovarian carcinoma Angioid streaks of the fundus Abnormality of the penis Subcutaneous lipoma Colonic diverticula Adenoma sebaceum Hydrocephalus Neoplasm of the central nervous system Cellulitis Acute myeloid leukemia Palmoplantar hyperkeratosis Kyphosis Hyperthyroidism Ovarian neoplasm Generalized hyperkeratosis Intracranial hemorrhage Fibroma Hamartomatous polyposis Thyroiditis Dysdiadochokinesis Incoordination Pectus excavatum Autism Narrow mouth Abnormality of the uterus Tricuspid regurgitation Abnormality of the cardiovascular system Vascular skin abnormality Microalbuminuria Primary hypothyroidism Biventricular hypertrophy Abnormal endocardium morphology Abnormality of cardiovascular system physiology Decreased female libido Retinal vascular tortuosity Dysesthesia Corneal crystals Limb pain Abnormality of temperature regulation Nephrogenic diabetes insipidus Decreased glomerular filtration rate Vascular tortuosity Distal renal tubular acidosis Supraventricular arrhythmia Abnormal cornea morphology Reduced sperm motility Periorbital fullness Abnormality of femur morphology Abnormality of the nose Restrictive cardiomyopathy Abnormal myocardium morphology High-frequency hearing impairment Asymmetric septal hypertrophy Abnormal mitral valve morphology Gastrointestinal dysmotility Abnormality of the renal tubule Abnormal aortic valve morphology T-wave inversion Miosis Abnormal renal physiology Chronic pain Tubulointerstitial fibrosis Abnormal thrombosis Increased blood urea nitrogen Angiokeratoma Myocardial fibrosis Falls Abnormal common carotid artery morphology Abnormal ST segment Increased carotid artery intimal medial thickness Increased glomerular filtration rate Abnormality of the common coagulation pathway Abnormal glomerular filtration rate Cornea verticillata Polycythemia Heavy proteinuria Retinoblastoma Papillary renal cell carcinoma Fibrosarcoma Burkitt lymphoma Clear cell renal cell carcinoma Small cell lung carcinoma Cerebellar hemangioblastoma Acroparesthesia Tenesmus Obstructive lung disease Concentric hypertrophic cardiomyopathy Impaired temperature sensation Hyposthenuria Shortened QT interval Angiokeratoma corporis diffusum Decreased lacrimation Shortened PR interval Coronary artery stenosis Unexplained fevers Left ventricular septal hypertrophy ST segment depression Functional abnormality of the gastrointestinal tract Impaired renal concentrating ability Abnormality of glycosphingolipid metabolism Abnormality of the forehead Hyperkeratotic papule Tortuosity of conjunctival vessels Chronic fatigue Sinus bradycardia Mitral valve prolapse Easy fatigability Abnormal intestine morphology Progressive hearing impairment Corneal dystrophy Ischemic stroke Reduced bone mineral density Ventricular arrhythmia Tinnitus Atrioventricular block Ventricular tachycardia Chronic kidney disease Abnormality of the hand Hemiplegia Polydipsia Personality changes Heart murmur Clubbing Aortic regurgitation Hyperlipidemia High palate Left ventricular hypertrophy Nephrotic syndrome Ventricular hypertrophy Thick lower lip vermilion Atrial fibrillation Myocardial infarction Mitral regurgitation Abnormal lung morphology Anorexia Purpura Hypohidrosis Lymphedema Bradycardia Fasciculations Abnormal autonomic nervous system physiology Spontaneous abortion Exercise intolerance Impaired vibratory sensation Diabetes insipidus Achalasia Oligospermia Transient ischemic attack Renal tubular dysfunction Edema of the lower limbs Tubulointerstitial nephritis Elevated serum creatinine Tubular atrophy Abnormality of the gastrointestinal tract Large earlobe Abnormal EKG Supraventricular tachycardia Heat intolerance Reduced ejection fraction Peripheral arterial stenosis Clubbing of fingers Angina pectoris Chronic obstructive pulmonary disease Xerostomia Abnormality of lipid metabolism Polyuria Interstitial pulmonary abnormality Anhidrosis Emphysema Loss of consciousness Bundle branch block Impotence Coronary artery atherosclerosis Elevated erythrocyte sedimentation rate Progressive sensorineural hearing impairment Aortic root aneurysm Orthostatic hypotension Celiac disease Glomerulopathy Abnormal heart valve morphology Glycosuria Renal tubular acidosis Wheezing Delayed speech and language development Extraadrenal pheochromocytoma Micrognathia Nevus Large hands Hypercalciuria Polycystic kidney dysplasia Growth abnormality Abnormality of the outer ear Accelerated skeletal maturation Nephrocalcinosis Nephrolithiasis Large fontanelles Recurrent urinary tract infections Omphalocele Cardiomegaly Dandy-Walker malformation Vesicoureteral reflux Postural instability Prominent occiput Proptosis Respiratory distress Short nose Hernia Abnormal heart morphology Polydactyly Respiratory failure Polyhydramnios Postaxial polydactyly Umbilical hernia Hypoglycemia Hydronephrosis Wide mouth Attention deficit hyperactivity disorder Pulmonary hypoplasia Large for gestational age Abnormality of the ear Cleft palate Renal cortical cysts Unilateral cryptorchidism Diaphragmatic eventration Teratoma Abdominal wall defect Hepatoblastoma Embryonal neoplasm Prune belly Abnormality of the tongue Flank pain Adrenocortical carcinoma Ganglioneuroma Posterior helix pit Opsoclonus Abdominal mass Rhabdomyosarcoma Pancreatic cysts Tibial bowing Enlarged kidney Broad palm Neuroblastoma Congenital hypothyroidism Prominent metopic ridge Protuberant abdomen Foot polydactyly Nevus flammeus Visceromegaly Neonatal hypoglycemia Ketosis Diastasis recti Nonimmune hydrops fetalis Hemihypertrophy Gonadoblastoma Intrauterine growth retardation Abnormal facial shape Nephroblastomatosis Bronchiectasis Progressive cerebellar ataxia Chorea Hepatitis Apraxia Type II diabetes mellitus Pancytopenia Limb ataxia Distal amyotrophy Sinusitis Abnormality of the hair Truncal ataxia Recurrent pneumonia Oculomotor apraxia Cerebral palsy Polyneuropathy Unsteady gait Polycystic ovaries Recurrent respiratory infections Nystagmus Flexion contracture Gait disturbance Cerebellar atrophy Dystonia Pneumonia Diabetes mellitus Abnormality of movement Gait ataxia Difficulty walking Respiratory tract infection Distal muscle weakness Neurological speech impairment Abnormality of eye movement Slurred speech Spinal muscular atrophy Defective B cell differentiation Female hypogonadism Chronic lymphatic leukemia Abnormality of chromosome stability Chronic myelogenous leukemia Neoplasm of the breast Abnormal spermatogenesis Elevated alpha-fetoprotein Increased sensitivity to ionizing radiation Spinocerebellar tract degeneration Aplasia/Hypoplasia of the thymus Non-Hodgkin lymphoma Progressive spinal muscular atrophy Immunoglobulin IgG2 deficiency Decreased/absent ankle reflexes Interosseus muscle atrophy Absent Achilles reflex Lymphoproliferative disorder Athetosis Myeloid leukemia Glucose intolerance Combined immunodeficiency Premature graying of hair Resting tremor Aplasia/Hypoplasia of the skin Abnormality of the immune system Prematurely aged appearance Abnormality of the testis Hypopigmentation of hair Acute lymphoblastic leukemia Severe combined immunodeficiency Chromosome breakage Recurrent bronchitis B-cell lymphoma Thymus hyperplasia Vitreomacular adhesion Flat nasal alae Hypertensive retinopathy Recurrent paroxysmal headache Renal artery stenosis Pulsatile tinnitus Episodic paroxysmal anxiety Adrenal pheochromocytoma Hypertension associated with pheochromocytoma Panic attack Cranial nerve compression Episodic hyperhidrosis Elevated urinary epinephrine Elevated urinary dopamine Paraganglioma of head and neck Positive regitine blocking test Paroxysmal vertigo Albuminuria Sinus tachycardia Episodic hypertension Hypercalcemia Opportunistic infection Impaired memory B cell generation Pallor Retinopathy Congenital cataract Dysphonia Cerebral hemorrhage Paraganglioma Episodic abdominal pain Vocal cord paralysis Raynaud phenomenon Flushing Neoplasm of the endocrine system Pheochromocytoma Elevated urinary norepinephrine Abnormality of the dentition Enlarged tonsils Freckling Dermal atrophy Pterygium Ectropion Keratitis Squamous cell carcinoma Hypermelanotic macule Blepharitis Opacification of the corneal stroma Poikiloderma Craniofacial hyperostosis Entropion Ankyloblepharon Defective DNA repair after ultraviolet radiation damage Neoplasm of the eye Intellectual disability, progressive Conjunctivitis Hyporeflexia Mental deterioration Delayed skeletal maturation Alopecia Hypogonadism Cerebral cortical atrophy Photophobia EEG abnormality Erythema Bone marrow hypocellularity Dry skin Decreased testicular size Abnormality of extrapyramidal motor function Cutaneous photosensitivity Thin skin Thickened skin Agranulocytosis Absence of lymph node germinal center Adrenocortical cytomegaly Cholestasis Confusion Hepatic steatosis Coma Memory impairment Psychosis Hypertriglyceridemia Decreased liver function Irritability Hallucinations Hepatic fibrosis Pancreatitis Hyperammonemia Hypoalbuminemia Restlessness Lethargy Aggressive behavior Insomnia Talipes equinovarus Overgrowth of external genitalia Pancreatic hyperplasia Fibrous hamartoma Pancreatoblastoma Congenital mesoblastic nephroma Hyperreflexia Abnormality of metabolism/homeostasis Poor coordination Agenesis of corpus callosum Acidosis Bruising susceptibility Asthma Aciduria Heterotopia Drowsiness Delusions Impaired Ig class switch recombination Cholangitis Recurrent bacterial infections Leukoencephalopathy Encephalitis IgG deficiency Gingivitis Agammaglobulinemia Stomatitis Clumsiness IgM deficiency Dysgammaglobulinemia Increased IgM level Sclerosing cholangitis Cholangiocarcinoma Decreased T cell activation Involuntary movements Recurrent otitis media Intrahepatic cholestasis Hypoargininemia Echolalia Enuresis Cerebral edema Mania Delirium Delayed menarche Splenomegaly Otitis media Thrombocytopenia Autoimmunity Hemolytic anemia Neurodegeneration Neutropenia Sepsis Hemangioblastoma



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like High palate and Renal agenesis, related diseases and genetic alterations Obesity and Hyperglycemia, related diseases and genetic alterations Cognitive impairment and Choanal atresia, related diseases and genetic alterations Peripheral neuropathy and Urinary incontinence, related diseases and genetic alterations Hypertension and Pes cavus, related diseases and genetic alterations Ataxia and Hypertrophic cardiomyopathy, related diseases and genetic alterations

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