Carcinoma, and Pallor
Diseases related with Carcinoma and Pallor
In the following list you will find some of the most common rare diseases related to Carcinoma and Pallor that can help you solving undiagnosed cases.
Top matches:
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
Fanconi anemia (FA) is a hereditary DNA repair disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors.
FANCONI ANEMIA Is also known as fanconi pancytopenia|fanconi anemia|fa
Related symptoms:
- Intellectual disability
- Global developmental delay
- Short stature
- Hearing impairment
- Microcephaly
SOURCES:
OMIM
ORPHANET
MENDELIAN
More info about FANCONI ANEMIA
Gastrointestinal stromal tumor (GIST) is the most common mesenchymal neoplasm of the gastrointestinal (GI) tract, typically presenting in adults over the age of 40 (mean age 63), and only rarely in children, in various regions of the GI tract, most commonly the stomach or small intestine but also less commonly in the esophagus, appendix, rectum and colon. GISTs can be asymptomatic or present with various non-specific signs, depending on the location and size of tumor, such as loss of appetite, anemia, weight loss, fatigue, abdominal discomfort or fullness, nausea, vomiting, as well as an abdominal mass, blood in stool, and intestinal obstruction. GISTs can also be seen in familial syndromes such as Carney triad and neurofibromatosis type 1.
GASTROINTESTINAL STROMAL TUMOR Is also known as gastrointestinal stromal sarcoma|gist
Related symptoms:
- Neoplasm
- Pain
- Anemia
- Fever
- Fatigue
SOURCES:
OMIM
ORPHANET
MESH
MENDELIAN
More info about GASTROINTESTINAL STROMAL TUMOR
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Other less relevant matches:
A slowly progressive syndrome of cherubic facies (fullness of the cheeks, producing a typical chubby face suggestive of a cherub) maxillary fibrous dysplasia, gingival enlargement, radiolucent lesions of the jaws, seizures, delayed mental development, stunted growth, and other defects. Insulin dependent diabetes mellitus and vascular skin lesions may occur.
RAMON SYNDROME Is also known as cherubism-gingival fibromatosis-intellectual disability syndrome|cherubism, gingival fibromatosis, epilepsy, mental deficiency, hypertrichosis, and stunted growth
Related symptoms:
- Intellectual disability
- Seizures
- Short stature
- Hearing impairment
- Scoliosis
SOURCES:
ORPHANET
OMIM
MESH
MENDELIAN
More info about RAMON SYNDROME
DENYS-DRASH SYNDROME; DDS Is also known as nephropathy, wilms tumor, and genital anomalies|drash syndrome|wilms tumor and pseudo- or true hermaphroditism
Related symptoms:
- Intellectual disability
- Hearing impairment
- Nystagmus
- Neoplasm
- Cleft palate
SOURCES:
OMIM
MENDELIAN
More info about DENYS-DRASH SYNDROME; DDS
Hereditary paraganglioma-pheochromocytomas (PGL/PCC) are rare neuroendocrine tumors represented by paragangliomas (occurring in any paraganglia from the skull base to the pelvic floor) and pheochromocytomas (adrenal medullary paragangliomas; see this term).
HEREDITARY PHEOCHROMOCYTOMA-PARAGANGLIOMA Is also known as familial pheochromocytoma-paraganglioma
Related symptoms:
- Tremor
- Fatigue
- Congestive heart failure
- Weight loss
- Conductive hearing impairment
SOURCES:
ORPHANET
MENDELIAN
More info about HEREDITARY PHEOCHROMOCYTOMA-PARAGANGLIOMA
Tay-Sachs disease is an autosomal recessive, progressive neurodegenerative disorder which, in the classic infantile form, is usually fatal by age 2 or 3 years.
TAY-SACHS DISEASE; TSD Is also known as b variant gm2-gangliosidosis|gm2-gangliosidosis, type i|hexosaminidase a deficiency|hexa deficiency
Related symptoms:
- Seizures
- Global developmental delay
- Generalized hypotonia
- Hearing impairment
- Ataxia
SOURCES:
OMIM
ORPHANET
MENDELIAN
More info about TAY-SACHS DISEASE; TSD
Blackfan-Diamond anemia (DBA) is a congenital aregenerative and often macrocytic anemia with erythroblastopenia.
BLACKFAN-DIAMOND ANEMIA Is also known as congenital hypoplastic anemia, blackfan-diamond type|congenital pure red cell aplasia|aase-smith syndrome ii|congenital prca|aase-smith ii syndrome|aase syndrome
Related symptoms:
- Short stature
- Growth delay
- Hypertelorism
- Neoplasm
- Failure to thrive
SOURCES:
ORPHANET
OMIM
MENDELIAN
More info about BLACKFAN-DIAMOND ANEMIA
Porokeratosis is a rare skin disorder characterized by one or more annular plaques with a surrounding raised horny border that spreads centrifugally. Variants of porokeratosis have been described that differ in morphologic shape, distribution, and clinical course (Schamroth et al., 1997). However, as noted by Sybert (2010), the existence of several families with expression of more than one variant of porokeratosis among members, and individuals expressing more than one variant, suggest that the distinctions among these variants may be artificial.Disseminated superficial actinic porokeratosis (DSAP) is the most common subtype of porokeratosis. It is characterized by multiple small, annular, anhidrotic, keratotic lesions that are located predominantly on sun-exposed areas of the skin, such as the face, neck, and distal limbs. The lesions typically begin to develop in adolescence and reach near-complete penetrance by the third or fourth decade of life (summary by Wu et al., 2004 and Zhang et al., 2012).For a discussion of genetic heterogeneity of porokeratosis, see {175800}.
Related symptoms:
- Carcinoma
- Papule
- Porokeratosis
SOURCES:
OMIM
MENDELIAN
More info about POROKERATOSIS 8, DISSEMINATED SUPERFICIAL ACTINIC TYPE; POROK8
Disseminated superficial actinic porokeratosis (DSAP) is the most common form of porokeratosis characterized by the presence of several small annular plaques with a distinctive keratotic rim found most commonly on sun-exposed areas of the skin, particularly the extremities.
DISSEMINATED SUPERFICIAL ACTINIC POROKERATOSIS Is also known as porokeratosis, disseminated superficial actinic, 2|dsap2
Related symptoms:
- Carcinoma
- Pruritus
- Cutaneous photosensitivity
- Squamous cell carcinoma
- Porokeratosis
SOURCES:
OMIM
ORPHANET
MENDELIAN
More info about DISSEMINATED SUPERFICIAL ACTINIC POROKERATOSIS
Top 5 symptoms//phenotypes associated to Carcinoma and Pallor
Symptoms // Phenotype |
% cases |
Neoplasm |
Uncommon - Between 30% and 50% cases
|
Fatigue |
Uncommon - Between 30% and 50% cases
|
Weight loss |
Uncommon - Between 30% and 50% cases
|
Hearing impairment |
Uncommon - Between 30% and 50% cases
|
Glomerulosclerosis |
Uncommon - Between 30% and 50% cases
|
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Other less frequent symptoms
Patients with Carcinoma and Pallor. may also develop some of the following symptoms:
Uncommon Symptoms - Between 30% and 50% cases
Short stature
Failure to thrive
Cleft palate
Anemia
Fever
Paraganglioma
Intellectual disability
Aniridia
Abnormality of the genital system
Tremor
Congestive heart failure
Conductive hearing impairment
Proteinuria
Rare Symptoms - Less than 30% cases
Atrial septal defect
Scoliosis
Ataxia
Growth delay
Hypertelorism
Nystagmus
Triphalangeal thumb
Micrognathia
Abdominal distention
Abnormality of the urinary system
Intrauterine growth retardation
Renal insufficiency
Tetralogy of Fallot
Abnormality of the liver
Reticulocytopenia
Neutropenia
Melanoma
Abnormality of skin pigmentation
Low-grade fever
Telangiectasia
Short thumb
Irregular hyperpigmentation
Irritability
Abnormality of the kidney
Hypertension
Diabetes mellitus
Patent ductus arteriosus
Dysphagia
Global developmental delay
Squamous cell carcinoma
Elevated urinary norepinephrine
Dysphonia
Cranial nerve compression
Sinus tachycardia
Flushing
Vocal cord paralysis
Cerebral hemorrhage
Hypercalcemia
Cafe-au-lait spot
Pulsatile tinnitus
Palpitations
Chest pain
Hematuria
Nausea
Porokeratosis
Retinopathy
Seizures
Recurrent paroxysmal headache
Episodic abdominal pain
Elevated urinary dopamine
Positive regitine blocking test
Adrenal pheochromocytoma
Elevated urinary epinephrine
Episodic paroxysmal anxiety
Paraganglioma of head and neck
Extraadrenal pheochromocytoma
Hypertension associated with pheochromocytoma
Episodic hyperhidrosis
Paroxysmal vertigo
Panic attack
Hypertensive retinopathy
Renal cell carcinoma
Arachnoid hemangiomatosis
Hypertrichosis
Retinal capillary hemangioma
Elevated calcitonin
Streak ovary
Gonadal tissue inappropriate for external genitalia or chromosomal sex
Ovarian gonadoblastoma
Kyphosis
True hermaphroditism
Generalized hypotonia
Anuria
Abnormality of dental enamel
Muscle weakness
Sensorineural hearing impairment
Behavioral abnormality
Myoclonus
Dementia
Rod-cone dystrophy
Pes cavus
Visual loss
Depressivity
Dystonia
Hypertonia
Ambiguous genitalia, female
Cerebellar atrophy
Blindness
Gait disturbance
Optic atrophy
Skeletal muscle atrophy
Dysarthria
Peripheral neuropathy
Spasticity
Uterus didelphys
Abnormal renal physiology
Diffuse mesangial sclerosis
Angiokeratoma
Recurrent infections
Edema
Delayed eruption of teeth
Respiratory insufficiency
Abnormality of retinal pigmentation
Enlarged labia minora
Axenfeld anomaly
Respiratory failure
Arthritis
Gingival fibromatosis
Full cheeks
Generalized hirsutism
Pigmentary retinopathy
Juvenile rheumatoid arthritis
Telangiectasia of the skin
Rheumatoid arthritis
Osteolysis
Hernia
Micropenis
Ambiguous genitalia, male
Glomerulonephritis
Narrow palate
Gonadoblastoma
Male pseudohermaphroditism
Gonadal dysgenesis
Glomerulopathy
Focal segmental glomerulosclerosis
Nephroblastoma
Optic disc pallor
Primary amenorrhea
Lethargy
Nephrotic syndrome
Congenital diaphragmatic hernia
Hyperkeratosis
Ambiguous genitalia
Decreased body weight
Amenorrhea
Nephropathy
Stage 5 chronic kidney disease
Abnormal anterior chamber morphology
Progressive hearing impairment
Rigidity
GM2-ganglioside accumulation
Retrognathia
Autism
Osteoporosis
Arrhythmia
Short nose
Ventricular septal defect
Zebra bodies
Internuclear ophthalmoplegia
Autistic behavior
Therapeutic abortion
Cherry red spot of the macula
Abnormal anterior horn cell morphology
Psychotic episodes
Decerebrate rigidity
Mood changes
Paranoia
Psychomotor deterioration
Cleft lip
Delayed puberty
Torsion dystonia
Tracheomalacia
Pruritus
Papule
Persistence of hemoglobin F
Fetal distress
Cleft soft palate
Increased mean corpuscular volume
Esophagitis
Acute leukemia
Macrocytic anemia
Cleft upper lip
Abnormality of the hand
Mitral regurgitation
Depressed nasal ridge
Thick lower lip vermilion
Ventricular hypertrophy
Mitral valve prolapse
Migraine
Bifid uvula
Exaggerated startle response
Action tremor
Proximal muscle weakness
Neurodegeneration
Choreoathetosis
Psychosis
Memory impairment
Urinary incontinence
Generalized muscle weakness
Abnormal cerebellum morphology
Muscle cramps
Sensory neuropathy
Involuntary movements
Falls
Confusion
Lower limb muscle weakness
Limb muscle weakness
Ophthalmoplegia
Paralysis
Developmental regression
Mental deterioration
Clumsiness
Progressive muscle weakness
Proximal amyotrophy
Slurred speech
Loss of speech
Muscle fibrillation
Amyotrophic lateral sclerosis
Oral-pharyngeal dysphagia
Personality changes
Spinal muscular atrophy
Apathy
Incoordination
Poor head control
Hallucinations
Hyperkinesis
Neoplasm of the gastrointestinal tract
Hypercholesterolemia
EMG abnormality
Muscle stiffness
Foot dorsiflexor weakness
Aspiration
Fasciculations
Giant hypertrophic gastritis
Abnormal carotid artery morphology
Gastrointestinal obstruction
Facial asymmetry
Renal agenesis
Lymphoma
Hypopigmentation of the skin
Bruising susceptibility
Vertigo
Astigmatism
Anal atresia
Abnormality of the foot
Oligohydramnios
Toe syndactyly
Dolichocephaly
Hip dislocation
Finger syndactyly
Small for gestational age
Leukemia
Abnormal cardiac septum morphology
Postnatal growth retardation
Sloping forehead
Pancytopenia
Hypertrophic cardiomyopathy
Type I diabetes mellitus
Abnormality of vision
Reduced bone mineral density
Hypopigmented skin patches
Renal hypoplasia/aplasia
Cranial nerve paralysis
Azoospermia
Leukopenia
Horseshoe kidney
Short palpebral fissure
Bone marrow hypocellularity
Hypergonadotropic hypogonadism
Spina bifida
Abnormal vertebral morphology
Insulin resistance
Recurrent urinary tract infections
Aganglionic megacolon
Choanal atresia
Abnormality of the eye
Pes planus
Myelodysplasia
Episodic hypertension
High palate
Ptosis
Cryptorchidism
Cataract
Abnormal facial shape
Strabismus
Microcephaly
Renal artery stenosis
Epicanthus
Albuminuria
Pheochromocytoma
Neoplasm of the endocrine system
Raynaud phenomenon
Hemangioma
Tachycardia
Congenital cataract
Hyperhidrosis
Visual impairment
Hepatomegaly
Umbilical hernia
Hypospadias
Hypothyroidism
Proptosis
Upslanted palpebral fissure
Hypogonadism
Severe short stature
Clinodactyly of the 5th finger
Abnormal heart morphology
Thrombocytopenia
Hyperreflexia
Abnormality of cardiovascular system morphology
Headache
Microphthalmia
Hydrocephalus
Respiratory distress
Ventriculomegaly
Abnormality of the skeletal system
Frontal bossing
Hyperinsulinemia
Tracheoesophageal fistula
Neoplasm of the stomach
Aplasia/Hypoplasia of fingers
Coarse facial features
Abdominal pain
Constipation
Vomiting
Pain
Abnormality of the preputium
Pyridoxine-responsive sideroblastic anemia
Aplasia/Hypoplasia of the uvula
Nausea and vomiting
Neoplasm of head and neck
Deficient excision of UV-induced pyrimidine dimers in DNA
Anemic pallor
Prolonged G2 phase of cell cycle
Almond-shaped palpebral fissure
Compensated hypothyroidism
Absent testis
Hypoplastic anemia
Skin rash
Gastrointestinal hemorrhage
Decreased fertility in males
Gastrointestinal stroma tumor
Neoplasm of the colon
Esophageal neoplasm
Neoplasm of the rectum
Neoplasm of the small intestine
Mastocytosis
Soft tissue sarcoma
Leiomyosarcoma
Schwannoma
Hyperpigmentation of the skin
Lipoma
Neurofibromas
Hypermelanotic macule
Large hands
Intestinal obstruction
Urticaria
Sarcoma
Eosinophilia
Chromosomal breakage induced by crosslinking agents
Clubbing of toes
Glucose intolerance
Aplasia/Hypoplasia of the radius
B-cell lymphoma
Arteriovenous malformation
Abnormality of the ulna
Abnormal eyelid morphology
Chromosome breakage
Hearing abnormality
External ear malformation
Absent radius
Aplastic anemia
Abnormality of blood and blood-forming tissues
Acute myeloid leukemia
Multiple cafe-au-lait spots
Myeloid leukemia
Absent thumb
Hydroureter
Ectopic kidney
Hypoplasia of the ulna
Abnormality of the upper limb
Abnormality of the uterus
Partial duplication of thumb phalanx
Abnormal aortic morphology
Complete duplication of thumb phalanx
Aplasia/Hypoplasia of the iris
Meckel diverticulum
Duplicated collecting system
Duodenal stenosis
Primary hypothyroidism
Abnormality of nervous system morphology
Abnormality of chromosome stability
Abnormality of the testis
Abnormal localization of kidney
Abnormal renal morphology
Abnormal aortic valve morphology
Abnormality of the hypothalamus-pituitary axis
Acute monocytic leukemia
Abnormality of femur morphology
Bicornuate uterus
Abnormality of the thumb
Cutaneous photosensitivity
If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like
Ventricular septal defect and Hypotelorism, related diseases and genetic alterations
Delayed speech and language development and Syndactyly, related diseases and genetic alterations
Pain and Polymicrogyria, related diseases and genetic alterations
Peripheral neuropathy and Dental malocclusion, related diseases and genetic alterations
Muscular hypotonia and Narrow chest, related diseases and genetic alterations
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