Carcinoma, and Delayed myelination

Diseases related with Carcinoma and Delayed myelination

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


Top matches:

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

Medium match TYROSINEMIA TYPE 1


Tyrosinemia type 1 (HTI) is an inborn error of tyrosine catabolism caused by defective activity of fumarylacetoacetate hydrolase (FAH) and is characterized by progressive liver disease, renal tubular dysfunction, porphyria-like crises and a dramatic improvement in prognosis following treatment with nitisinone.

TYROSINEMIA TYPE 1 Is also known as hepatorenal tyrosinemia|fumarylacetoacetase deficiency|fah deficiency|fumarylacetoacetate hydrolase deficiency|tyrosinemia type i

Related symptoms:

  • Neoplasm
  • Failure to thrive
  • Muscle weakness
  • Pain
  • Peripheral neuropathy


SOURCES: ORPHANET OMIM MENDELIAN

More info about TYROSINEMIA TYPE 1

Medium match TUBEROUS SCLEROSIS 1; TSC1


Tuberous sclerosis complex (TSC) is an autosomal dominant multisystem disorder characterized by hamartomas in multiple organ systems, including the brain, skin, heart, kidneys, and lung. Central nervous system manifestations include epilepsy, learning difficulties, behavioral problems, and autism. Renal lesions, usually angiomyolipomas, can cause clinical problems secondary to hemorrhage or by compression and replacement of healthy renal tissue, which can cause renal failure. Patients can also develop renal cysts and renal-cell carcinomas. Pulmonary lymphangioleiomyomatosis can develop in the lungs. Skin lesions include melanotic macules, facial angiofibromas, and patches of connective tissue nevi. There is a wide clinical spectrum, and some patients may have minimal symptoms with no neurologic disability (reviews by Crino et al., 2006 and Curatolo et al., 2008). Genetic Heterogeneity of Tuberous SclerosisSee also tuberous sclerosis-2 (OMIM ), which is caused by mutation in the TSC2 gene (OMIM ) on chromosome 16p13.Approximately 10 to 30% of cases of tuberous sclerosis are due to mutations in the TSC1 gene: the frequency of cases due to mutations in the TSC2 gene is consistently higher. TSC2 mutations are associated with more severe disease (Crino et al., 2006) (see GENOTYPE/PHENOTYPE CORRELATIONS section).

TUBEROUS SCLEROSIS 1; TSC1 Is also known as tuberous sclerosis complex|ts|tuberose sclerosis|tsc

Related symptoms:

  • Intellectual disability
  • Seizures
  • Neoplasm
  • Pain
  • Hypertension


SOURCES: OMIM MENDELIAN

More info about TUBEROUS SCLEROSIS 1; TSC1

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Other less relevant matches:

Medium match KEUTEL SYNDROME


Keutel syndrome is characterised by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism.

KEUTEL SYNDROME Is also known as pulmonic stenosis-brachytelephalangism-calcification of cartilages syndrome|pulmonic stenosis, brachytelephalangism, and calcification of cartilages

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about KEUTEL 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 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

Low match BLOOD GROUP, CROMER SYSTEM; CROM


The Cromer blood group system (CROM) consists of 12 high-prevalence and 3 low-prevalence antigens that reside on decay-accelerating factor (DAF, or CD55; {125240}), a regulator of complement activation. Nearly all Cromer antigens result from SNPs in the DAF gene. The red blood cells (RBCs) of people with the Cromer-null phenotype, Inab, lack DAF but do not appear to show increased susceptibility to hemolysis. Antibodies to Cromer antigens are rarely encountered, although evidence suggests that the antibodies may cause accelerated destruction of transfused RBCs. Cromer system antibodies are not associated with hemolytic disease of the newborn, because placenta is a rich source of fetally derived DAF, which is thought to absorb the antibodies (review by Storry et al., 2010).The Inab phenotype is associated with CHAPLE syndrome (OMIM ) in some individuals.

BLOOD GROUP, CROMER SYSTEM; CROM Is also known as cromer blood group system

Related symptoms:

  • Neoplasm
  • Carcinoma
  • Abnormal intestine morphology
  • Protein-losing enteropathy


SOURCES: OMIM MENDELIAN

More info about BLOOD GROUP, CROMER SYSTEM; CROM

Low match PILOMATRIXOMA


Pilomatrixoma is a rare and benign hair cell-derived tumor occurring mostly in young adults (usually under the age of 20) and characterized as a 3-30 mm solitary, painless, firm, mobile, deep dermal or subcutaneous tumor, most commonly found in the head, neck or upper extremities. When superficial, the tumors tint the skin blue-red. Multiple pilomatrixomas are seen in myotonic dystrophy, Gardner syndrome, Rubinstein-Taybi syndrome, and Turner syndrome (see these terms).

PILOMATRIXOMA Is also known as epithelioma calcificans of malherbe|pilomatricoma|ptr

Related symptoms:

  • Neoplasm
  • Carcinoma
  • Neoplasm of the skin
  • Pilomatrixoma


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about PILOMATRIXOMA

Top 5 symptoms//phenotypes associated to Carcinoma and Delayed myelination

Symptoms // Phenotype % cases
Neoplasm Common - Between 50% and 80% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Peripheral neuropathy Uncommon - Between 30% and 50% cases
Dilatation Uncommon - Between 30% and 50% cases
Peripheral demyelination Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Rare Symptoms - Less than 30% cases


Hearing impairment Aortic aneurysm Muscle weakness Pain Seizures Vomiting Cerebral calcification Irritability Respiratory failure Intellectual disability, mild Hypertension Renal cell carcinoma Renal insufficiency Intellectual disability Hepatic failure Diarrhea Abnormality of the liver Progressive hearing impairment Otitis media Memory impairment Sloping forehead Pulmonary arterial hypertension Recurrent otitis media Short phalanx of finger Short thumb Sinusitis Leukodystrophy Spontaneous abortion Cutis laxa Deep philtrum Growth abnormality Asthma Dermal atrophy Hypomelanotic macule Nasal speech Emphysema Mixed hearing impairment Recurrent sinusitis Subependymal nodules Epiphyseal stippling Irregular vertebral endplates Pulmonary artery stenosis Chronic sinusitis Optic nerve glioma Underdeveloped nasal alae Subungual fibromas Wide nose Alopecia Projection of scalp hair onto lateral cheek Short stature Rhabdomyoma Abnormal facial shape Depressed nasal bridge Optic atrophy Connective tissue nevi Ventricular septal defect Malar flattening Pulmonary lymphangiomyomatosis Midface retrusion Chordoma Recurrent respiratory infections Achromatic retinal patches Cortical tubers Osteoporosis Macrotia Cardiac rhabdomyoma Hydronephrosis Respiratory tract infection Hypotrichosis Ungual fibroma Pulmonic stenosis Dental enamel pits Infertility Long face Short distal phalanx of finger Short nail Short hallux Onion bulb formation Lymphoma Split hand Progressive muscle weakness Foot dorsiflexor weakness Sleep apnea Delayed gross motor development Decreased nerve conduction velocity Hammertoe Steppage gait Decreased motor nerve conduction velocity Neurofibromas Decreased number of peripheral myelinated nerve fibers Axonal loss Hodgkin lymphoma Polyneuropathy Demyelinating peripheral neuropathy Segmental peripheral demyelination/remyelination Hypopnea Axonal regeneration Ulnar claw Hypertrophic nerve changes Myelin outfoldings Abnormal nervous system electrophysiology Progressive distal muscular atrophy Cold-induced muscle cramps Squamous cell carcinoma Abnormal intestine morphology Protein-losing enteropathy Neoplasm of the skin Sensory neuropathy Recurrent bronchitis Costal cartilage calcification Chronic obstructive pulmonary disease Thyroid carcinoma Peripheral pulmonary artery stenosis Shortening of all distal phalanges of the fingers Renal angiomyolipoma Papillary thyroid carcinoma Abdominal aortic aneurysm Obstructive lung disease Pulmonary artery hypoplasia Arterial calcification Calcification of cartilage Tracheal atresia Soft, doughy skin Calcification of the auricular cartilage Distal sensory impairment Cartilaginous ossification of nose Premature fusion of phalangeal epiphyses Cartilaginous ossification of larynx Motor delay Skeletal muscle atrophy Areflexia Hyporeflexia Pes cavus Kyphoscoliosis Apnea Distal muscle weakness Limb muscle weakness Abnormality of the foot Distal amyotrophy Angiofibromas Brain neoplasm Premature chromatid separation Enlarged kidney Paralysis Cirrhosis Ascites Abnormal bleeding Gastrointestinal hemorrhage Aciduria Nephrocalcinosis Glomerulosclerosis Rickets Abnormality of coagulation Axonal degeneration Hepatocellular carcinoma Self-mutilation Elevated hepatic transaminase Renal tubular dysfunction Acute hepatic failure Neoplasm of the liver Hypophosphatemic rickets Ileus Periodic paralysis Generalized aminoaciduria Abnormality of the abdominal wall Pancreatic islet-cell hyperplasia Hypertyrosinemia Renal Fanconi syndrome Elevated alpha-fetoprotein Hypermethioninemia Hypertrophic cardiomyopathy Hypoglycemia Elevated urinary delta-aminolevulinic acid Reduced tendon reflexes Muscular hypotonia Anemia Visual impairment Fever Gait disturbance Thrombocytopenia Rod-cone dystrophy Malabsorption Abnormality of movement Retinal degeneration Hepatic steatosis Chronic diarrhea Abnormality of retinal pigmentation Abnormality of the coagulation cascade Jaundice Acanthocytosis Fat malabsorption Hypocholesterolemia Decreased LDL cholesterol concentration Abetalipoproteinemia Increased HDL cholesterol concentration Steatocystoma multiplex Failure to thrive Hepatomegaly Cardiomyopathy Hypertonia Splenomegaly Hepatosplenomegaly Hepatic necrosis Paralytic ileus Ependymoma Skin tags Cardiomegaly Heterotopia Subcutaneous nodule Hypoplasia of dental enamel Cafe-au-lait spot Tachypnea CNS hypomyelination Polycystic kidney dysplasia Precocious puberty Nephroblastoma Infantile spasms Hamartoma Hyperventilation Abnormality of the respiratory system Specific learning disability Generalized hypopigmentation Renal neoplasm White hair Wolff-Parkinson-White syndrome Ataxia Astrocytoma Pneumothorax Gingival fibromatosis Chylothorax Fibroma Adenoma sebaceum Flank pain Shagreen patch Generalized-onset seizure Focal-onset seizure Rickets of the lower limbs Abnormality of the kidney Episodic peripheral neuropathy Respiratory distress Hydrocephalus Congestive heart failure Behavioral abnormality Headache Arrhythmia Hyperactivity Glaucoma Autism Hypothyroidism Dyspnea Intellectual disability, moderate Autistic behavior Brain atrophy Skin rash Attention deficit hyperactivity disorder Stroke Cough Abnormality of the cerebral white matter Nausea Retinal detachment Sleep disturbance Hypopigmentation of the skin Renal cyst Chest pain Gliosis Nevus Pilomatrixoma



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Intrauterine growth retardation and Underdeveloped nasal alae, related diseases and genetic alterations Myopia and Atrial fibrillation, related diseases and genetic alterations Hepatomegaly and Short nose, related diseases and genetic alterations Pain and Infertility, related diseases and genetic alterations Peripheral neuropathy and Osteoarthritis, related diseases and genetic alterations

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