Carcinoma, and Pes cavus

Diseases related with Carcinoma and Pes cavus

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


Top matches:

High 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

High match MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB; MEN2B


Multiple endocrine neoplasia type IIB (MEN2B) is an autosomal dominant hamartoneoplastic syndrome characterized by aggressive medullary thyroid carcinoma (MTC), pheochromocytoma, mucosal neuromas, and thickened corneal nerves. Most affected individuals have characteristic physical features, including full lips, thickened eyelids, high-arched palate, and marfanoid habitus. Other more variable features include skeletal anomalies and gastrointestinal problems (review by Morrison and Nevin, 1996).For a discussion of genetic heterogeneity of multiple endocrine neoplasia (MEN), see MEN1 (OMIM ).

MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB; MEN2B Is also known as men iib|multiple endocrine neoplasia, type iii, formerly|wagenmann-froboese syndrome|men3, formerly|neuromata, mucosal, with endocrine tumors

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Neoplasm


SOURCES: OMIM MENDELIAN

More info about MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB; MEN2B

High 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

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Other less relevant matches:

High 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

Low match CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1A; CMT1A


For a general phenotypic description and a discussion of genetic heterogeneity of Charcot-Marie-Tooth disease type 1, see CMT1B (OMIM ).CMT1A is the most common form of CMT. The average age of onset of clinical symptoms is 12.2 +/- 7.3 years. Slow nerve conduction velocity (NCV) less than 38 m/s is highly diagnostic and is a 100% penetrant phenotype independent of age ({36,39:Lupski et al., 1991, 1992}).

CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1A; CMT1A Is also known as hereditary motor and sensory neuropathy ia|hmsn ia|charcot-marie-tooth neuropathy, type 1a|hmsn1a|charcot-marie-tooth disease, autosomal dominant, with focally folded myelin sheaths, type 1a

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Muscle weakness
  • Motor delay
  • Peripheral neuropathy


SOURCES: OMIM MENDELIAN

More info about CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1A; CMT1A

Low match TAY-SACHS DISEASE; TSD


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

Low match 17Q11.2 MICRODUPLICATION SYNDROME


17q11.2 microduplication syndrome is characterized by dysmorphic features and intellectual deficit.

17Q11.2 MICRODUPLICATION SYNDROME Is also known as trisomy 17q11.2|nf1 microdeletion syndrome|van asperen syndrome|grisart-destrÉe syndrome|dup(17)(q11.2)|neurofibromatosis 1 microdeletion syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about 17Q11.2 MICRODUPLICATION SYNDROME

Low match THYROID CARCINOMA, HURTHLE CELL


Hurthle cell carcinoma of the thyroid accounts for approximately 3% of all thyroid cancers. Although they are classified as variants of follicular neoplasms, they are more often multifocal and somewhat more aggressive and are less likely to take up iodine than are other follicular neoplasms (Sanders and Silverman, 1998).Hurthle cell tumors, also known as oxyphil cell tumors, are composed of cells with increased numbers of mitochondria, which corresponds morphologically to their voluminous, granular, eosinophilic cytoplasm (Maximo et al., 2005).

THYROID CARCINOMA, HURTHLE CELL Is also known as hurthle cell thyroid neoplasia

Related symptoms:

  • Carcinoma


SOURCES: MESH OMIM MENDELIAN

More info about THYROID CARCINOMA, HURTHLE CELL

Low match NASOPHARYNGEAL CARCINOMA, SUSCEPTIBILITY TO, 3; NPCA3


Nasopharyngeal carcinoma (NPCA) is a malignant tumor that emerges from the epithelium of the nasopharynx. It has a high incidence in southern China, and evidence suggests that there may be a genetic component that underlies familial clustering. Some patients have onset before 20 years of age (summary by Dai et al., 2016)For a general phenotypic description and a discussion of genetic heterogeneity of susceptibility to nasopharyngeal carcinoma, see NPCA1 (OMIM ).

Related symptoms:

  • Neoplasm
  • Carcinoma


SOURCES: OMIM MENDELIAN

More info about NASOPHARYNGEAL CARCINOMA, SUSCEPTIBILITY TO, 3; NPCA3

Low match SQUAMOUS CELL CARCINOMA, HEAD AND NECK; HNSCC


Cancer of the head and neck that begins in squamous cells (thin, flat cells that form the surface of the skin, eyes, various internal organs, and the lining of hollow organs and ducts of some glands). Squamous cell carcinoma of the head and neck includes cancers of the nasal cavity, sinuses, lips, mouth, salivary glands, throat, and larynx (voice box). Most head and neck cancers are squamous cell carcinomas.

Related symptoms:

  • Neoplasm
  • Carcinoma
  • Squamous cell carcinoma


SOURCES: OMIM MENDELIAN

More info about SQUAMOUS CELL CARCINOMA, HEAD AND NECK; HNSCC

Top 5 symptoms//phenotypes associated to Carcinoma and Pes cavus

Symptoms // Phenotype % cases
Neoplasm Common - Between 50% and 80% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Hearing impairment Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Short stature Coarse facial features Visual loss Pectus excavatum Intellectual disability Abnormality of the skeletal system Ptosis Muscular hypotonia Abnormal facial shape Neurofibromas Scoliosis Cafe-au-lait spot

Rare Symptoms - Less than 30% cases


Intellectual disability, mild Progressive muscle weakness Foot dorsiflexor weakness Abnormality of the dentition Micrognathia Blindness Strabismus Cryptorchidism Low-set ears Cognitive impairment Inguinal freckling Dysphagia Subcutaneous neurofibromas Delayed speech and language development Dysarthria Overgrowth Lisch nodules Motor delay Hypoplasia of dental enamel Sensory neuropathy Failure to thrive in infancy Hypertelorism Limb muscle weakness Abnormality of cardiovascular system morphology Apnea Alopecia of scalp Spasticity Abnormal heart morphology Squamous cell carcinoma Hypoplastic toenails Respiratory failure Kyphoscoliosis Sparse eyelashes Sparse and thin eyebrow Irritability Skeletal muscle atrophy Aganglionic megacolon Joint hyperflexibility Sparse hair Joint hypermobility Hyperkeratosis Hyperhidrosis Delayed skeletal maturation Muscle weakness Peripheral neuropathy Hypopnea Macrocephaly Severe short stature Proptosis High palate Sepsis Congenital sensorineural hearing impairment Joint laxity Thick lower lip vermilion Pain Rod-cone dystrophy Abnormality of dental enamel Areflexia Thick vermilion border Myopathy Diarrhea Hepatomegaly High, narrow palate Sensorineural hearing impairment Ophthalmoplegia Polyneuropathy Failure to thrive Abnormality of the skin Growth delay Photophobia Deep palmar crease Myofiber disarray Severe postnatal growth retardation Soft skin Vitreomacular adhesion Obstructive sleep apnea Bladder carcinoma Enlarged cerebellum Macrocephaly at birth Microscopic hematuria Loose anagen hair Thickened nuchal skin fold Cardiomyocyte hypertrophy Choroid plexus papilloma Neonatal sepsis Fragile nails Tendon rupture Systolic heart murmur Alveolar rhabdomyosarcoma Distal muscle weakness Distal sensory impairment Ulnar deviation of finger Generalized hyperpigmentation Tracheomalacia Distal amyotrophy Abnormality of the foot Central hypotonia Hyporeflexia Lymphangiectasis Syringomyelia Arnold-Chiari type I malformation Increased corneal curvature Megalencephaly Neonatal hypoglycemia Thickened Achilles tendon Congenital neuroblastoma Multifocal atrial tachycardia Progeroid facial appearance Embryonal rhabdomyosarcoma Broad femoral neck Deep plantar creases Abnormality of the testis Thin nail Large face Papilloma Bronchomalacia Limited elbow movement Abnormality of earlobe Schwannoma Redundant neck skin Melena Rhabdomyosarcoma Hyperextensibility of the finger joints Labial hypoplasia Pneumothorax Concave nail Hypoplasia of teeth Fasting hypoglycemia Broad philtrum Abnormal mitral valve morphology Asymmetric septal hypertrophy Hematemesis Triangular mouth Deep-set nails Postprandial hyperglycemia Vestibular Schwannoma Frontal hirsutism Barrel-shaped chest Ganglioneuroblastoma Transitional cell carcinoma of the bladder Woolly hair Concentric hypertrophic cardiomyopathy Large earlobe Shyness Body odor Lack of skin elasticity Ulnar deviation of the wrist Duodenal ulcer Thick upper lip vermilion Achilles tendon contracture Abnormal pulmonary valve morphology Large forehead Verrucae Central apnea Bladder neoplasm Capillary malformation Fetal distress Ataxia Delayed myelination Muscle fibrillation Psychotic episodes Decerebrate rigidity Mood changes Paranoia Psychomotor deterioration Exaggerated startle response Torsion dystonia Action tremor Proximal amyotrophy Loss of speech Amyotrophic lateral sclerosis Cherry red spot of the macula Oral-pharyngeal dysphagia Personality changes Spinal muscular atrophy Apathy Incoordination Slurred speech Poor head control Hyperkinesis Melanoma Progressive hearing impairment Hypercholesterolemia Abnormal anterior horn cell morphology Therapeutic abortion Muscle stiffness Macroorchidism Focal T2 hyperintense basal ganglia lesion Plexiform neurofibroma Deviated nasal septum Neurofibrosarcoma Optic nerve glioma Axillary freckling Overbite Thick nasal alae Bifid nose Bone cyst Long foot Broad neck Internuclear ophthalmoplegia Large hands Tall stature Specific learning disability Thin vermilion border Facial asymmetry Attention deficit hyperactivity disorder Thin upper lip vermilion Malar flattening Microcephaly Zebra bodies GM2-ganglioside accumulation EMG abnormality Aspiration Lymphoma Demyelinating peripheral neuropathy Tremor Optic atrophy Neuroblastoma Cold-induced muscle cramps Progressive distal muscular atrophy Abnormal nervous system electrophysiology Myelin outfoldings Hypertrophic nerve changes Ulnar claw Axonal regeneration Segmental peripheral demyelination/remyelination Hodgkin lymphoma Cerebellar atrophy Onion bulb formation Axonal loss Decreased number of peripheral myelinated nerve fibers Decreased motor nerve conduction velocity Steppage gait Hammertoe Decreased nerve conduction velocity Delayed gross motor development Sleep apnea Split hand Peripheral demyelination Gait disturbance Hypertonia Fasciculations Falls Hallucinations Involuntary movements Clumsiness Choreoathetosis Psychosis Memory impairment Urinary incontinence Generalized muscle weakness Abnormal cerebellum morphology Muscle cramps Neurodegeneration Confusion Behavioral abnormality Lower limb muscle weakness Paralysis Pallor Developmental regression Mental deterioration Proximal muscle weakness Rigidity Myoclonus Dementia Depressivity Dystonia Rhabdomyolysis Epidermal acanthosis Curly hair Palmoplantar keratoderma Conjunctivitis Knee flexion contracture Elbow flexion contracture Skin ulcer Hypohidrosis Thickened skin Fine hair Progressive visual loss Nail dysplasia Delayed eruption of teeth Ichthyosis Neoplasm of the skin Carious teeth Nail dystrophy Severe global developmental delay Scarring Erythema Arthritis Cerebellar hypoplasia Alopecia Visual impairment Multiple mucosal neuromas Osteolysis Reduced tendon reflexes Prominent corneal nerve fibers Dystrophic toenail Corneal scarring Keratoconjunctivitis Squamous cell carcinoma of the skin Abnormality of the tongue Recurrent corneal erosions Corneal neovascularization Dystrophic fingernails Oral leukoplakia Hypoplastic fingernail Furrowed tongue Corneal erosion Urticaria Abnormal eyelash morphology Keratoconjunctivitis sicca Severe hearing impairment Cellulitis Macule Aplasia/Hypoplasia of the eyebrow Hemiplegia/hemiparesis Absent eyebrow Keratitis Scaling skin Ganglioneuromatosis Elevated urinary epinephrine Generalized hyperkeratosis Pancreatitis Civatte bodies Vitamin E deficiency Intermittent jaundice Fat malabsorption Conjugated hyperbilirubinemia Intrahepatic cholestasis Thrombocytosis Hepatocellular carcinoma Steatorrhea Malnutrition Hyperbilirubinemia Intrahepatic cholestasis with episodic jaundice Hepatic fibrosis Cholestasis Neuronal loss in central nervous system Hepatic failure Cirrhosis Pruritus Abnormality of the liver Hepatosplenomegaly Jaundice Splenomegaly Increased serum bile acid concentration Kyphosis Neuroma Thyroid carcinoma Proximal femoral epiphysiolysis Abnormality of the parathyroid gland Nodular goiter Elevated calcitonin Schizencephaly Ganglioneuroma Colonic diverticula Medullary thyroid carcinoma Parathyroid hyperplasia Pheochromocytoma Achalasia Constipation Neoplasm of the endocrine system Flushing Freckling Disproportionate tall stature Acne Goiter Subcutaneous nodule Hemiparesis Thick eyebrow Hyperlordosis Recurrent bacterial skin infections Corneal ulceration Keratoconus Mitral valve prolapse Hoarse voice Abnormality of the hair Hydrops fetalis Lymphedema Wide anterior fontanel Hyperpigmentation of the skin Long eyelashes Decreased body weight Atrial fibrillation Apraxia Eczema Narrow palate Hip dysplasia Growth hormone deficiency Webbed neck Premature birth Nevus Full cheeks Macroglossia Tetraplegia Ascites Postural instability Pointed chin Short chin Hematuria Redundant skin Reduced subcutaneous adipose tissue Neurodevelopmental delay Large for gestational age Rocker bottom foot Tricuspid regurgitation Bilateral cryptorchidism Hyperglycemia Heart murmur Pleural effusion Aortic aneurysm Pyloric stenosis Abnormality of the fingernails Hyperextensible skin Poor suck Laryngomalacia Relative macrocephaly Arnold-Chiari malformation Hemangioma Infantile muscular hypotonia Abnormal dermatoglyphics Cutis laxa Acanthosis nigricans Sleep disturbance Wide nose Moderate hearing impairment Talipes equinovarus Long philtrum Short nose Edema Atrial septal defect Cardiomyopathy Hydrocephalus Short neck Respiratory insufficiency Anteverted nares Ventriculomegaly Ventricular septal defect Cerebral atrophy Frontal bossing Downslanted palpebral fissures Myopia Epicanthus Hypertension Depressed nasal bridge Feeding difficulties Nystagmus Abnormality of corneal stroma Trichiasis Renal insufficiency Absent speech Tachycardia Intellectual disability, moderate Astigmatism Delayed puberty Pulmonic stenosis Hypermetropia Arthrogryposis multiplex congenita Pectus carinatum Wide mouth Postnatal growth retardation Feeding difficulties in infancy Low-set, posteriorly rotated ears Hypertrophic cardiomyopathy Hernia Abnormality of the nervous system Hypoglycemia Osteopenia Gastroesophageal reflux Polyhydramnios Cerebral cortical atrophy Hypogonadism Osteoporosis Posteriorly rotated ears Inguinal hernia Arrhythmia Spinal neurofibromas



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Delayed speech and language development and Dystonia, related diseases and genetic alterations Brachydactyly and Interphalangeal joint contracture of finger, related diseases and genetic alterations Peripheral neuropathy and Muscle cramps, related diseases and genetic alterations Muscle weakness and Bradykinesia, related diseases and genetic alterations Hypertension and Ectodermal dysplasia, related diseases and genetic alterations

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