Carcinoma, and Babinski sign

Diseases related with Carcinoma and Babinski sign

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


Top matches:

High match HYDROCEPHALUS WITH STENOSIS OF THE AQUEDUCT OF SYLVIUS


Hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS) is a historical term used to describe a phenotype now considered to be part of the X-linked L1 clinical spectrum (L1 syndrome, see this term). HSAS is characterized by severe hydrocephalus mostly with prenatal onset, signs of intracranial hypertension, adducted thumbs, spasticity, and severe intellectual deficit. HSAS represents the severe end of the spectrum and is associated with poor prognosis.

HYDROCEPHALUS WITH STENOSIS OF THE AQUEDUCT OF SYLVIUS Is also known as x-linked hydrocephalus|hsas1|hycx|aqueductal stenosis, x-linked|bickers-adams syndrome|x-linked acqueductal stenosis|xlas|hydrocephalus, x-linked|x-linked hydrocephalus with stenosis of aqueduct of sylvius|x-linked hsas|hsas

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Nystagmus


SOURCES: OMIM ORPHANET MENDELIAN

More info about HYDROCEPHALUS WITH STENOSIS OF THE AQUEDUCT OF SYLVIUS

High match LYNCH SYNDROME


LYNCH SYNDROME Is also known as coca2|colon cancer, familial nonpolyposis, type 2|fcc2

Related symptoms:

  • Seizures
  • Neoplasm
  • Muscular hypotonia
  • Flexion contracture
  • Visual impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about LYNCH SYNDROME

Medium match ABETALIPOPROTEINEMIA


Abetalipoproteinemia/ homozygous familial hypobetalipoproteinemia (ABL/HoFHBL) is a severe form of familial hypobetalipoproteinemia (see this term) characterized by permanently low levels (below the 5th percentile) of apolipoprotein B and LDL cholesterol, and by growth delay, malabsorption, hepatomegaly, and neurological and neuromuscular manifestations.

ABETALIPOPROTEINEMIA Is also known as hypobetalipoproteinemia, normotriglyceridemic|fhbl|hypobetalipoproteinemia, familial|acanthocytosis with hypobetalipoproteinemia|homozygous familial hypobetalipoproteinemia|bassen-kornzweig disease

Related symptoms:

  • Global developmental delay
  • Ataxia
  • Muscular hypotonia
  • Anemia
  • Visual impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about ABETALIPOPROTEINEMIA

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Other less relevant matches:

Medium match CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 1; PFIC1


Progressive familial intrahepatic cholestasis is a heterogeneous group of autosomal recessive liver disorders characterized by early onset of cholestasis that progresses to hepatic fibrosis, cirrhosis, and end-stage liver disease before adulthood (Alonso et al., 1994; Whitington et al., 1994; Klomp et al., 2004). Genetic Heterogeneity of Progressive Familial Intrahepatic CholestasisPFIC is a genetically heterogeneous disorder caused by defects in the transport of bile acids. See also PFIC2 (OMIM ), caused by mutation in a liver-specific ATP-binding cassette transporter gene (ABCB11 ) on chromosome 2q24; PFIC3 (OMIM ), caused by mutation in the class III multidrug resistance P-glycoprotein gene (ABCB4 ) on chromosome 7q21; PFIC4 (OMIM ), caused by mutation in the TJP2 gene (OMIM ) on chromosome 9q12; and PFIC5 (OMIM ), caused by mutation in the NR1H4 gene (OMIM ) on chromosome 12q.PFIC1 and PFIC2 are associated with mildly elevated or normal serum levels of gamma-glutamyltransferase (GGT; see {612346}), whereas PFIC3 is associated with high serum GGT levels and liver histology that shows portal inflammation and ductular proliferation in an early stage ({27,26:Maggiore et al., 1987, 1991}). PFIC4 is associated with normal or mildly increased GGT levels (Sambrotta et al., 2014). PFIC5 is associated with low to normal GGT levels.There are also several phenotypically similar liver disorders that result from congenital defects in bile acid synthesis. See CBAS1 (OMIM ).

CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 1; PFIC1 Is also known as byler disease

Related symptoms:

  • Short stature
  • Hearing impairment
  • Growth delay
  • Failure to thrive
  • Sensorineural hearing impairment


SOURCES: OMIM MENDELIAN

More info about CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 1; PFIC1

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

Medium match ISOLATED HEMIHYPERPLASIA


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

Medium match KID SYNDROME


Keratitis (and hystrix-like) ichthyosis deafness (KID/HID) syndrome is a rare congenital ectodermal disorder characterized by vascularizing keratitis, hyperkeratotic skin lesions and hearing loss.

KID SYNDROME Is also known as ichthyosis hystrix rheydt type|keratitis-ichthyosis-deafness/hystrix-like ichthyosis-deafness syndrome|senter syndrome|kid/hid syndrome|kid syndrome, autosomal dominant

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about KID SYNDROME

Medium match ACUTE INTERMITTENT PORPHYRIA


Acute intermittent porphyria is the most frequent and the most severe form of the acute hepatic porphyrias (see this term). It is characterized by the occurrence of neuro-visceral attacks without cutaneous manifestations.

ACUTE INTERMITTENT PORPHYRIA Is also known as ups deficiency|porphyria, swedish type|pbgd deficiency|porphobilinogen deaminase deficiency|uroporphyrinogen synthase deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Muscle weakness
  • Pain


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about ACUTE INTERMITTENT PORPHYRIA

Medium match RHABDOID TUMOR PREDISPOSITION SYNDROME 2; RTPS2


Rhabdoid tumor predisposition syndrome-2 is an autosomal dominant cancer predisposition syndrome characterized by the onset in infancy, childhood, or young adulthood of various poorly differentiated tumors. Classically, tumors that arise in the central nervous system are referred to as atypical teratoid/rhabdoid tumors, whereas those arising in the kidney or other extracranial sites are referred to as malignant rhabdoid tumors. Tumors may also present as small cell carcinoma of the ovary, hypercalcemic type (SCCOHT), also known as malignant rhabdoid tumor of the ovary (MRTO). All of these tumors are highly aggressive and often fatal (summary by Foulkes et al., 2014).See also RTPS1 (OMIM ), which is caused by mutation in the SMARCB1 gene (OMIM ) on chromosome 22q11.

Related symptoms:

  • Neoplasm
  • Pain
  • Anemia
  • Hypertension
  • Fever


SOURCES: OMIM ORPHANET MENDELIAN

More info about RHABDOID TUMOR PREDISPOSITION SYNDROME 2; RTPS2

Medium match PORPHYRIA VARIEGATA


Variegate porphyria is a form of acute hepatic porphyria (see this term) characterized by the occurrence of neuro-visceral attacks with or without the presence of cutaneous lesions.

PORPHYRIA VARIEGATA Is also known as variegate porphyria|ppox deficiency|porphyria, south african type|protoporphyrinogen oxidase deficiency|vp

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Growth delay
  • Nystagmus


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about PORPHYRIA VARIEGATA

Top 5 symptoms//phenotypes associated to Carcinoma and Babinski sign

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
Hepatocellular carcinoma Uncommon - Between 30% and 50% cases
Pain Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Nausea and vomiting Abdominal pain Diarrhea Anxiety Behavioral abnormality Anemia Hemiplegia/hemiparesis Global developmental delay Visual impairment Intellectual disability, mild Weight loss Hypertension Depressivity Fever Short stature Hallucinations Hydrocephalus Constipation

Rare Symptoms - Less than 30% cases


Abnormality of the dentition Ovarian neoplasm Leiomyosarcoma Insomnia Agitation Cryptorchidism Peripheral neuropathy Abnormality of the liver Thrombocytopenia Congenital sensorineural hearing impairment Hepatosplenomegaly Vomiting Pes cavus Sensorineural hearing impairment Paralysis Growth delay Hearing impairment Nausea Rod-cone dystrophy Tachycardia Fat malabsorption Reduced tendon reflexes Psychosis Cutaneous photosensitivity Hepatic failure Hyperhidrosis Cranial nerve paralysis Paresthesia Muscle weakness Malabsorption Nephroblastoma Paraparesis Muscular hypotonia Abnormal pyramidal sign Embryonal neoplasm Agenesis of corpus callosum Increased intracranial pressure Scarring Flexion contracture Gait disturbance Renal cell carcinoma Strabismus Neoplasm of the liver Irritability Nystagmus Nail dysplasia Delayed eruption of teeth Dystrophic fingernails Arthritis Palmoplantar keratoderma Corneal neovascularization Ichthyosis Recurrent corneal erosions Corneal scarring Abnormality of the tongue Recurrent bacterial skin infections Carious teeth Keratoconjunctivitis Corneal ulceration Nail dystrophy Severe global developmental delay Erythema Generalized hyperkeratosis Sparse hair Squamous cell carcinoma of the skin Aganglionic megacolon Progressive visual loss Elbow flexion contracture Osteolysis Neoplasm of the skin Conjunctivitis Moderate hearing impairment Scaling skin Keratitis Absent eyebrow Knee flexion contracture Hypoplastic toenails Squamous cell carcinoma Aplasia/Hypoplasia of the eyebrow Macule Cellulitis Severe hearing impairment Fine hair Keratoconjunctivitis sicca Alopecia of scalp Abnormal eyelash morphology Corneal erosion Dystrophic toenail Furrowed tongue Skin ulcer Hypoplastic fingernail Oral leukoplakia Sparse and thin eyebrow Hypohidrosis Thickened skin Sparse eyelashes Urticaria Hyperlipidemia Trichiasis Hypopigmentation of the skin Sarcoma Hemiplegia Hypercalcemia Poor appetite Renal neoplasm Oculomotor nerve palsy Teratoma Neoplasm of the central nervous system Internal hemorrhage Abnormality of the skeletal system Clinodactyly Abnormality of the kidney Confusion Tetraplegia Subcutaneous nodule Abnormal blistering of the skin Hypertrichosis Thin skin Aspiration Hypopigmented skin patches Chronic kidney disease Milia Fragile skin Restlessness Visual hallucinations Motor polyneuropathy Dark urine Premature adrenarche Cerebral palsy Hematuria Abnormality of corneal stroma Dysuria Renal insufficiency Arrhythmia Arthralgia Myalgia Lethargy Stage 5 chronic kidney disease Nephropathy Coma Abdominal distention Urinary incontinence Anorexia Hyponatremia Apathy Ileus Lymphadenopathy Urinary retention Diaphragmatic paralysis Abnormal urinary color Delirium Psychotic episodes Hypertensive crisis Respiratory paralysis Paralytic ileus Elevated urinary delta-aminolevulinic acid Red urine Acute episodes of neuropathic symptoms Respiratory insufficiency Headache Photophobia Inguinal hernia Hyperkeratosis Neoplasm of the skeletal system Colon cancer Neuroblastoma Neoplasm of the pancreas Pituitary adenoma Intestinal polyposis Prostate cancer Dysgraphia Amaurosis fugax Pancreatic adenocarcinoma Glioblastoma multiforme Agnosia Neoplasm of the thyroid gland Benign neoplasm of the central nervous system Abnormality of creatine metabolism Basal cell carcinoma Neoplasm of the rectum Cardiac diverticulum Urinary tract neoplasm Ataxia Abnormality of movement Retinal degeneration Hepatic steatosis Peripheral demyelination Chronic diarrhea Abnormality of retinal pigmentation Abnormality of the coagulation cascade Acanthocytosis Hypocholesterolemia Decreased LDL cholesterol concentration Visual field defect Breast carcinoma Increased HDL cholesterol concentration Adducted thumb Generalized hypotonia Spasticity Cognitive impairment Macrocephaly Ventriculomegaly Intellectual disability, severe Dilatation Coarse facial features Joint stiffness Spastic paraplegia Paraplegia Spastic paraparesis Holoprosencephaly Absent septum pellucidum Memory impairment Aqueductal stenosis Clear cell renal cell carcinoma Flexion contracture of thumb Corticospinal tract hypoplasia Noncommunicating hydrocephalus Dysarthria Fatigue Hypertonia Developmental regression Attention deficit hyperactivity disorder Neurological speech impairment Dyskinesia Migraine Gastrointestinal hemorrhage Abetalipoproteinemia Steatocystoma multiplex Cerebellar hypoplasia Impaired pain sensation Asthma Aciduria Heterotopia Poor coordination Scoliosis Abnormality of cardiovascular system morphology Hernia Facial asymmetry Overgrowth Bicuspid aortic valve Skeletal muscle hypertrophy Neurofibromas Multiple lipomas Increased circulating cortisol level Intellectual disability, moderate Myelomeningocele Communicating hydrocephalus Hemihypertrophy Pheochromocytoma Adrenocortical adenoma Asymmetric growth Asymmetry of the thorax Hepatoblastoma Hemifacial hypertrophy Hemiareflexia Blindness Visual loss Delayed skeletal maturation Alopecia Bruising susceptibility Acidosis Failure to thrive Pancreatitis Hepatomegaly Splenomegaly Areflexia Severe short stature Jaundice Pruritus Ophthalmoplegia Cirrhosis Sepsis Neuronal loss in central nervous system Cholestasis Hepatic fibrosis Hyperbilirubinemia Malnutrition Abnormality of metabolism/homeostasis Steatorrhea Thrombocytosis Intrahepatic cholestasis Conjugated hyperbilirubinemia Intermittent jaundice Vitamin E deficiency Civatte bodies Increased serum bile acid concentration Intrahepatic cholestasis with episodic jaundice Hypertelorism Low-set ears Hyperreflexia Tremor Talipes equinovarus Porphyrinuria



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