Cognitive impairment, and Subcutaneous nodule

Diseases related with Cognitive impairment and Subcutaneous nodule

In the following list you will find some of the most common rare diseases related to Cognitive impairment and Subcutaneous nodule that can help you solving undiagnosed cases.


Top matches:

Medium match ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCY TYPE 2


Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 2 is a very rare mild adult type of NAGA deficiency (see this term) with the features of angiokeratoma corporis diffusum (see this term) and mild sensory neuropathy.

ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCY TYPE 2 Is also known as alpha-n-acetylgalactosaminidase deficiency, type ii|kanzaki disease|naga deficiency, type ii|adult-onset alpha-n-acetylgalactosaminidase deficiency|naga deficiency type 2|schindler disease type 2|alpha-n-acetylgalactosaminidase deficiency, adult-onset|sch

Related symptoms:

  • Hearing impairment
  • Sensorineural hearing impairment
  • Muscle weakness
  • Cognitive impairment
  • Depressed nasal bridge


SOURCES: OMIM ORPHANET MENDELIAN

More info about ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCY TYPE 2

Medium match LIPOID PROTEINOSIS


Lipoid proteinosis (LP) is a rare genodermatosis characterized clinically by mucocutaneous lesions, hoarseness developing in early childhood and, at times, neurological complications.

LIPOID PROTEINOSIS Is also known as lipoid proteinosis|urbach-wiethe disease|hyalinosis cutis et mucosae

Related symptoms:

  • Intellectual disability
  • Seizures
  • High palate
  • Dysphagia
  • Respiratory distress


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about LIPOID PROTEINOSIS

Medium match SEA-BLUE HISTIOCYTOSIS


A congenital disease caused by an inborn error involving APOLIPOPROTEINS E leading to abnormal LIPID METABOLISM and the accumulation of GLYCOSPHINGOLIPIDS, particularly SPHINGOMYELINS in the HISTIOCYTES. This disorder is characterized by SPLENOMEGALY and the sea-blue histiocytes in the spleen and bone marrow after May Grunwald staining.

SEA-BLUE HISTIOCYTOSIS Is also known as sea-blue histiocytosis|histiocytosis, sea-blue

Related symptoms:

  • Seizures
  • Ataxia
  • Peripheral neuropathy
  • Hepatomegaly
  • Gait disturbance


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SEA-BLUE HISTIOCYTOSIS

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Other less relevant matches:

Low match FARBER DISEASE


Farber disease is a rare sphingolipid disorder characterized by a spectrum of clinical signs ranging from the classical triad of painful and progressively deformed joints, subcutaneous nodules, and progressive hoarseness (due to laryngeal involvement) that presents in infancy, to varying phenotypes with respiratory and neurologic involvement.

FARBER DISEASE Is also known as acid ceramidase deficiency|ac deficiency|farber lipogranulomatosis|ceramidase deficiency|farber disease|n-laurylsphingosine deacylase deficiency

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Nystagmus
  • Failure to thrive


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about FARBER DISEASE

Low match TUBEROUS SCLEROSIS COMPLEX


Tuberous sclerosis complex (TSC) is a neurocutaneous disorder characterized by multisystem hamartomas and associated with neuropsychiatric features.

TUBEROUS SCLEROSIS COMPLEX Is also known as tuberous sclerosis|bourneville syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Neoplasm
  • Cognitive impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about TUBEROUS SCLEROSIS COMPLEX

Low match NOONAN SYNDROME WITH MULTIPLE LENTIGINES


Noonan syndrome with multiple lentigines (NSML), previously known as LEOPARD syndrome, is a rare multisystem genetic disorder characterized by lentigines, hypertrophic cardiomyopathy, short stature, pectus deformity, and dysmorphic facial features.

NOONAN SYNDROME WITH MULTIPLE LENTIGINES Is also known as leopard syndrome|cardiomyopathic lentiginosis|familial multiple lentigines syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about NOONAN SYNDROME WITH MULTIPLE LENTIGINES

Low match BEHÇET DISEASE


Behçet's disease (BD) is a chronic, relapsing, multisystemic vasculitis characterized by mucocutaneous lesions, as well as articular, vascular, ocular and central nervous system manifestations.

BEHÇET DISEASE Is also known as bd|behcet disease

Related symptoms:

  • Seizures
  • Ataxia
  • Neoplasm
  • Pain
  • Cataract


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about BEHÇET DISEASE

Low match PSEUDOHYPOPARATHYROIDISM, TYPE IA; PHP1A


Pseudohypoparathyroidism is a term applied to a heterogeneous group of disorders whose common feature is end-organ resistance to parathyroid hormone (PTH ). In addition to PTH resistance, PHP Ia is characterized by resistance to other hormones, including thyroid-stimulating hormone (TSH; see TSHB, {188540}) and gonadotropins. PHP Ia is associated with a constellation of clinical features referred to as Albright hereditary osteodystrophy (AHO), which includes short stature, obesity, round facies, subcutaneous ossifications, brachydactyly, and other skeletal anomalies. Some patients have mental retardation (Mantovani and Spada, 2006).In contrast, pseudopseudohypoparathyroidism (PPHP ) is characterized by the physical findings of AHO but without hormone resistance (Kinard et al., 1979; Fitch, 1982; Mantovani and Spada, 2006).PHP1A occurs only after maternal inheritance of the molecular defect, whereas PPHP occurs only after paternal inheritance of the molecular defect (Davies and Hughes, 1993; Wilson et al., 1994). This is an example of imprinting, with differential gene expression depending on the parent of origin of the allele. See INHERITANCE and PATHOGENESIS sections.

PSEUDOHYPOPARATHYROIDISM, TYPE IA; PHP1A Is also known as albright hereditary osteodystrophy with multiple hormone resistance|php ia

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Nystagmus
  • Strabismus


SOURCES: OMIM ORPHANET MENDELIAN

More info about PSEUDOHYPOPARATHYROIDISM, TYPE IA; PHP1A

Low match EHLERS-DANLOS SYNDROME, VASCULAR TYPE


Ehlers-Danlos syndrome type IV, also known as the vascular type of Ehlers-Danlos syndrome (EDS), is an inherited connective tissue disorder defined by characteristic facial features (acrogeria) in most patients, translucent skin with highly visible subcutaneous vessels on the trunk and lower back, easy bruising, and severe arterial, digestive and uterine complications, which are rarely, if at all, observed in the other forms of EDS.

EHLERS-DANLOS SYNDROME, VASCULAR TYPE Is also known as ehlers-danlos syndrome, type iv, autosomal dominant|eds type 4|ehlers-danlos syndrome type 4|ehlers-danlos syndrome type iv|ehlers-danlos syndrome, ecchymotic type|ehlers-danlos syndrome, arterial type|eds4|sack-barabas syndrome|eds iv|ehlers-danlos syndr

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Pain
  • Cryptorchidism


SOURCES: ORPHANET OMIM MENDELIAN

More info about EHLERS-DANLOS SYNDROME, VASCULAR TYPE

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

Top 5 symptoms//phenotypes associated to Cognitive impairment and Subcutaneous nodule

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Dilatation Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
Papule Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Cognitive impairment and Subcutaneous nodule. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Global developmental delay Cafe-au-lait spot Pain Increased intracranial pressure Cataract Alopecia Diarrhea Hypothyroidism Neoplasm Rheumatoid arthritis Macule Multiple cafe-au-lait spots Irritability Arthritis Melanocytic nevus Telangiectasia Hearing impairment Respiratory insufficiency Hypertelorism Depressed nasal bridge Pectus excavatum Intellectual disability, mild Hyperkeratosis Sensorineural hearing impairment Abnormality of the eye Splenomegaly Vertigo Ataxia Motor delay

Rare Symptoms - Less than 30% cases


Paresthesia Histiocytosis Headache Pulmonary infiltrates Osteoporosis Glaucoma Dyspnea Behavioral abnormality Narrow mouth Chest pain Nausea and vomiting Migraine Joint stiffness Nystagmus Abnormality of the kidney Confusion Failure to thrive Hydrocephalus Macrocephaly Arthralgia Hypopigmented skin patches Renal insufficiency Melanoma Joint hyperflexibility Hypospadias Abnormality of cardiovascular system morphology Short neck Low-set ears Ptosis Cryptorchidism Mitral valve prolapse Scoliosis Generalized hypotonia Myocardial infarction Abnormality of the face Colonic diverticula Adenoma sebaceum Arrhythmia Sprengel anomaly Pneumothorax Astrocytoma Wolff-Parkinson-White syndrome Aplasia/Hypoplasia of the abdominal wall musculature Skin tags Gingivitis Renal cell carcinoma Hamartoma Excessive wrinkled skin Specific learning disability Joint hypermobility Anxiety Autism Cranial nerve paralysis Kyphosis Abnormal bleeding Tinnitus Thick vermilion border Respiratory distress Telangiectasia of the skin Thick lower lip vermilion Recurrent respiratory infections Pustule Alopecia of scalp Fragile skin Hoarse cry Acne Carcinoma Scarring Memory impairment Abnormal blistering of the skin Cerebral calcification Hoarse voice Hemoptysis Abnormality of the gingiva Hepatomegaly High palate Abnormality of the dentition Hepatosplenomegaly Peripheral neuropathy Leukemia Muscle weakness Brachydactyly Hypertension Edema Gait disturbance Retinopathy Short finger Cardiac arrest Abnormality of the urinary system Sleep apnea Gingival overgrowth Abnormal intestine morphology Reduced bone mineral density Prolonged QT interval Short metatarsal Conjunctivitis Osteolysis Congenital hip dislocation Hypocalcemia Short chin Redundant skin Joint dislocation Hypokalemia Prematurely aged appearance Aortic aneurysm Choreoathetosis Periodontitis Aortic dissection Transient ischemic attack Muscle cramps Full cheeks Narrow nose Abnormal eyelash morphology Round face Subarachnoid hemorrhage Short metacarpal Growth hormone deficiency Hypoplasia of dental enamel Aplasia/Hypoplasia of the eyebrow Dilatation of the cerebral artery Premature loss of teeth Esophageal atresia Short toe Polyphagia Increased bone mineral density Keratoconus Scleroderma Abnormal joint morphology Hypergonadotropic hypogonadism Abnormal heart valve morphology Narrow nasal bridge Thin skin Oligomenorrhea Basal ganglia calcification Hypocalcemic tetany Inguinal hernia Talipes equinovarus Epicanthus Pseudohypoparathyroidism Parathyroid hyperplasia Flexion contracture Shortening of all distal phalanges of the fingers Hypocalcemic seizures Prolactin deficiency Band keratopathy Myoclonic spasms Abnormal platelet function Proptosis Elevated calcitonin Broad 1st metacarpal Hyperostosis frontalis interna Osteoma cutis Pituitary resistance to thyroid hormone Broad distal phalanx of the thumb Choroid plexus calcification Low urinary cyclic AMP response to PTH administration Ectopic ossification Short fifth metatarsal Abdominal symptom Short 3rd metacarpal Laryngeal dystonia Umbilical hernia Thickened calvaria Hyperphosphatemia Osteoarthritis Congenital hypothyroidism Blue sclerae Exocrine pancreatic insufficiency Microdontia Abnormality of the skin Premature birth High, narrow palate Subcutaneous calcification Bruising susceptibility Spinal cord compression Flat face Deeply set eye Thin vermilion border Abnormality of skin pigmentation Short 4th metacarpal Calcinosis Elevated circulating parathyroid hormone level Tetany Carious teeth Short 5th metacarpal Hip dislocation Protruding ear Telecanthus Constrictive median neuropathy Abnormally large globe Arteriovenous fistulas of celiac and mesenteric vessels Hematochezia Hashimoto thyroiditis Bone cyst Intestinal polyposis Ovarian cyst Abnormality of the uterus Furrowed tongue Arteriovenous malformation Hydrocele testis Meningioma Megalencephaly Prolactin excess Papilledema Abnormality of the vasculature Lipoma Scaphocephaly Hodgkin lymphoma Long penis Thyroiditis Ovarian neoplasm Hyperthyroidism Acute myeloid leukemia Cellulitis Cystic hygroma Multiple lipomas Abnormality of the thyroid gland Cutis marmorata Hand polydactyly Intracranial hemorrhage Dysdiadochokinesis Incoordination Palmoplantar hyperkeratosis Cellular immunodeficiency Cavernous hemangioma Breast carcinoma Progressive macrocephaly Multiple trichilemmomata Merkel cell skin cancer Ductal carcinoma in situ Conjunctival hamartoma Dysplastic gangliocytoma of the cerebellum Trichilemmoma Enlarged cerebellum Cutis marmorata telangiectatica congenita Fibroadenoma of the breast Neoplasm of the thyroid gland Transitional cell carcinoma of the bladder Acrokeratosis Mucosal telangiectasiae Pseudopapilledema Colorectal polyposis Enlarged polycystic ovaries Subcutaneous lipoma Papilloma Hamartomatous polyposis Fibroma Generalized hyperkeratosis Neoplasm of the central nervous system Decreased proportion of CD4-positive T cells Abnormality of the penis Endometrial carcinoma Angioid streaks of the fundus Ovarian carcinoma Intestinal polyp Thyroid adenoma Varicocele Follicular thyroid carcinoma Goiter Hemangioma Varicose veins Arterial dissection Uterine rupture Arterial rupture Foot acroosteolysis Spontaneous pneumothorax Molluscoid pseudotumors Coronary artery aneurysm Gingival recession Pulmonary artery aneurysm Normal pressure hydrocephalus Peripheral arteriovenous fistula Renovascular hypertension Absent earlobe Arteriovenous fistula Cigarette-paper scars Internal hemorrhage Hypoglycemia Abnormal oral frenulum morphology Gastrointestinal infarctions Dermal translucency Ascending tubular aorta aneurysm Abnormality of hair texture Ocular pain Arterial stenosis Premature loss of primary teeth Periorbital edema Bladder diverticulum Abnormal pupil morphology Aplasia/Hypoplasia of the earlobes Reduced consciousness/confusion Osteolytic defects of the phalanges of the hand Uterine prolapse Hypoplastic lacrimal duct Drooling Polymicrogyria Neoplasm of the skin Lymphopenia Gynecomastia Exotropia Chronic diarrhea Broad thumb Intention tremor Overgrowth Decreased antibody level in blood Lymphoma Macroglossia Abnormal cerebellum morphology Hypoplasia of the maxilla Palmoplantar keratoderma Intellectual disability, moderate Cystocele Skeletal muscle atrophy Premature delivery because of cervical insufficiency or membrane fragility Hemothorax Hypermobility of distal interphalangeal joints Micrognathia Delayed speech and language development Myopia Downslanted palpebral fissures Proximal muscle weakness Tremor Frontal bossing Atrial septal defect Myopathy Immunodeficiency Recurrent infections Delayed eruption of teeth Mitral regurgitation Hypogonadism Cherry red spot of the macula Aplasia/Hypoplasia of the corpus callosum Bradycardia Generalized-onset seizure Renal cyst Iris coloboma Attention deficit hyperactivity disorder Abnormality of the liver EEG abnormality Congestive heart failure Optic atrophy Lipogranulomatosis Periarticular subcutaneous nodules Psychomotor deterioration Precocious puberty Juvenile rheumatoid arthritis Nonimmune hydrops fetalis Joint swelling Weak cry Pulmonary fibrosis Decreased muscle mass Laryngomalacia Abnormality of vision Spontaneous abortion Hydrops fetalis Decreased liver function Ascites Nephropathy Atrioventricular block Abnormality of neuronal migration Jaundice Shagreen patch Ungual fibroma Dental enamel pits Hypomelanotic macule Cardiac rhabdomyoma Subependymal nodules Cortical tubers Chordoma Retinal hamartoma Angiofibromas Renal angiomyolipoma Optic nerve glioma Macrodactyly Ependymoma Emphysema Third degree atrioventricular block Chylothorax Abnormality of the pleura Rhabdomyosarcoma Gingival fibromatosis Abnormality of the pancreas Abnormality of the respiratory system Neoplasm of the pancreas Multiple renal cysts Nevus flammeus Infantile spasms Cortical dysplasia Prominent occiput Corneal opacity Anemia Pulmonary lymphangiomyomatosis Abnormality of the periventricular white matter Absent speech Dystonia Dysphagia Telangiectasia of the oral mucosa White mater abnormalities in the posterior periventricular region Distal sensory impairment of all modalities Increased urinary O-linked sialopeptides Lip telangiectasia Angiokeratoma corporis diffusum Angiokeratoma Progressive distal muscle weakness Motor polyneuropathy Axonal degeneration Aggressive behavior Opacification of the corneal stroma Aminoaciduria Lymphedema Cardiomegaly Bilateral sensorineural hearing impairment Polyneuropathy Distal sensory impairment Peripheral axonal neuropathy Dry skin Abnormality of the cerebral white matter Distal muscle weakness Coarse facial features Cerebral atrophy Abnormality of the nervous system Respiratory tract infection Sea-blue histiocytosis Cirrhosis Elevated serum acid phosphatase Absent axillary hair Mediastinal lymphadenopathy Chronic myelogenous leukemia Mucopolysacchariduria Blepharitis Autoimmune thrombocytopenia Petechiae Purpura Hyperpigmentation of the skin Hypertriglyceridemia Hypopigmentation of the skin Dementia Thickened skin Thrombocytopenia Bilateral intracranial calcifications Tongue nodules Patchy alopecia Paranoia Abnormal oral mucosa morphology Nasal polyposis Verrucae Microglossia Delusions Oral-pharyngeal dysphagia Oligodontia Hallucinations Confetti-like hypopigmented macules Achromatic retinal patches Hyporeflexia Pleural effusion Myositis Raynaud phenomenon Gangrene Uveitis Aseptic necrosis Pulmonary embolism Pericarditis Keratoconjunctivitis sicca Glomerulopathy Blurred vision Epiphora Inflammation of the large intestine Encephalitis Abnormal myocardium morphology Venous thrombosis Aortic regurgitation Pancreatitis Vasculitis Meningitis Anorexia Hemiparesis Gastrointestinal hemorrhage Lymphadenopathy Malabsorption Cough Stroke Abnormal pyramidal sign Cerebral ischemia Arterial thrombosis Erythema Iritis Depressivity Obesity Abnormality of the skeletal system Strabismus Hypopyon Decreased level of D-mannose in urine Epididymitis Genital ulcers Panuveitis Superficial thrombophlebitis Orchitis Retrobulbar optic neuritis Increased inflammatory response Recurrent aphthous stomatitis Iridocyclitis Posterior uveitis Anterior uveitis Optic neuritis Chorioretinitis Immunologic hypersensitivity Erythema nodosum Thrombophlebitis Pleuritis Oral ulcer Endocarditis Alopecia areata Stomatitis Autoimmunity Developmental regression Subungual fibromas Pulmonic stenosis Abnormality of the voice Myelodysplasia Hyperextensible skin Spina bifida occulta Scapular winging Left ventricular hypertrophy Abnormality of the genital system Tetralogy of Fallot Webbed neck Nevus Triangular face Delayed puberty Pectus carinatum Bundle branch block Low-set, posteriorly rotated ears Hypertrophic cardiomyopathy Neonatal hypotonia Mandibular prognathia Brachycephaly Posteriorly rotated ears Delayed skeletal maturation Intrauterine growth retardation Wide nasal bridge Muscular hypotonia Growth delay Subependymal giant-cell astrocytoma Rhabdomyoma Bilateral cryptorchidism External genital hypoplasia Myalgia Multiple lentigines Photophobia Reduced visual acuity Weight loss Abdominal pain Visual loss Blindness Fatigue Fever Hyperreflexia Numerous nevi Hypoplasia of the ovary Abnormal pulmonary valve morphology Abnormal endocardium morphology Abnormality of the pulmonary artery Abnormality of the ear Abnormal localization of kidney Abnormal aortic valve morphology Shield chest Abnormal mitral valve morphology Redundant neck skin Right ventricular hypertrophy Premature skin wrinkling Severe sensorineural hearing impairment Curly hair Neuroblastoma Freckling Atrioventricular canal defect Decreased fertility Lobular carcinoma in situ



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