Global developmental delay, and Renal cell carcinoma

Diseases related with Global developmental delay and Renal cell carcinoma

In the following list you will find some of the most common rare diseases related to Global developmental delay and Renal cell carcinoma 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

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

Renal cysts and diabetes syndrome (RCAD) is a rare form of maturity-onset diabetes of the young (MODY; see this term) characterized clinically by heterogeneous cystic renal disease and early-onset familial non-autoimmune diabetes. Pancreatic atrophy, liver dysfunction and genital tract anomalies are also features of the syndrome.

RENAL CYSTS AND DIABETES SYNDROME Is also known as renal dysfunction-early-onset diabetes syndrome|mody5|fjhn, atypical|cakut with diabetes|maturity-onset diabetes of the young, type 5|renal cysts-maturity-onset diabetes of the young syndrome|congenital anomalies of the kidney and urinary tract with diabe

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about RENAL CYSTS AND DIABETES SYNDROME

Other less relevant matches:

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

Medium 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

MVA3 is an autosomal recessive disorder resulting from errors in chromosome segregation. Most affected individuals develop early-onset Wilms tumor and show either aneuploidy or premature chromatid separation in cells. Some patients may have additional developmental features, such as microcephaly, growth retardation, or developmental delay (summary by Yost et al., 2017).For a discussion of genetic heterogeneity of MVA, see MVA1 (OMIM ).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 3; MVA3

Hyperprolinaemia type I is an inborn error of proline metabolism characterised by elevated levels of proline in the plasma and urine. The prevalence is unknown. The disorder is generally considered to be benign but associations with renal abnormalities, epileptic seizures, and other neurological manifestations, as well as certain forms of schizophrenia have been reported. It is transmitted as an autosomal recessive trait and is caused by mutations in the proline dehydrogenase or proline oxidase gene (PRODH or POX, 22q11.2).

HYPERPROLINEMIA TYPE 1 Is also known as hpi|proline oxidase deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about HYPERPROLINEMIA TYPE 1

Thauvin-Robinet-Faivre syndrome is an autosomal recessive disorder characterized by generalized overgrowth, mainly of height, and mildly delayed psychomotor development with mild or severe learning difficulties. More variable features may include congenital heart defects, kidney abnormalities, and skeletal defects. Patients may have an increased risk for Wilms tumor (summary by Akawi et al., 2016).

TALL STATURE-INTELLECTUAL DISABILITY-RENAL ANOMALIES SYNDROME Is also known as thauvin-robinet-faivre syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Hypertelorism
  • Neoplasm


SOURCES: ORPHANET OMIM MENDELIAN

More info about TALL STATURE-INTELLECTUAL DISABILITY-RENAL ANOMALIES SYNDROME

Diaphanospondylodysostosis is characterized by absent ossification of the vertebral bodies and sacrum associated with variable anomalies. It has been described in less than ten patients from different families. Manifestations include a short neck, a short wide thorax, a reduced number of ribs, a narrow pelvis, and inconstant anomalies such as myelomeningocele, cystic kidneys with nephrogenic rests, and cleft palate.

DIAPHANOSPONDYLODYSOSTOSIS Is also known as vertebral ossification, defect in, with nephrogenic rests

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Hypertelorism
  • Micrognathia
  • Muscular hypotonia


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about DIAPHANOSPONDYLODYSOSTOSIS

Potocki-Shaffer syndrome is characterized by multiple exostoses, parietal foramina, enlargement of the anterior fontanelle and occasionally intellectual deficit and mild cranio-facial anomalies. To date, 23 individuals from 14 families have been reported. The syndrome is caused by contiguous gene deletions on the short arm of chromosome 11 (11p11.2).

POTOCKI-SHAFFER SYNDROME Is also known as proximal 11p deletion syndrome|defect11 syndrome|pss|chromosome 11p11.2 deletion syndrome|11p11.2 deletion|p11pds

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Microcephaly


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about POTOCKI-SHAFFER SYNDROME

Top 5 symptoms//phenotypes associated to Global developmental delay and Renal cell carcinoma

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Neoplasm Common - Between 50% and 80% cases
Hearing impairment Uncommon - Between 30% and 50% cases
Nephroblastoma Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Global developmental delay and Renal cell carcinoma. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Generalized hypotonia Renal cyst Hypothyroidism Muscular hypotonia Macrocephaly Nystagmus Strabismus Cognitive impairment Epicanthus Dilatation Ataxia Autism Short stature Renal dysplasia Micrognathia Hypertelorism Behavioral abnormality Increased intracranial pressure Downslanted palpebral fissures Carcinoma Abnormality of the liver

Rare Symptoms - Less than 30% cases

Abnormal facial shape Renal insufficiency Leukemia Failure to thrive Acute myeloid leukemia Respiratory insufficiency Astrocytoma Motor delay Short nose Diarrhea Intellectual disability, mild Spastic paraparesis Cataract Adenoma sebaceum Low-set ears Macule Proteinuria Abnormality of the kidney Enlarged kidney Myopia Brachydactyly Nephropathy EEG abnormality Paraparesis Polymicrogyria Anemia Sensorineural hearing impairment Multiple cafe-au-lait spots Talipes equinovarus Hamartoma Hypopigmented skin patches Multiple renal cysts Chronic diarrhea Cafe-au-lait spot Subcutaneous nodule Inguinal hernia Hepatic steatosis Growth delay Papule Macroglossia Skin tags Delayed speech and language development Microcephaly Hydrocephalus Overgrowth Myeloid leukemia Lobular carcinoma in situ Premature chromatid separation Abnormality of the nervous system Hashimoto thyroiditis Arthrogryposis multiplex congenita Severe global developmental delay Hyperactivity Nephritis Aggressive behavior Bruxism Hyperprolinemia Prolinuria Hydroxyprolinuria Hyperglycinuria Motor deterioration Thyroiditis Hodgkin lymphoma Ichthyosis Schizophrenia Severe muscular hypotonia Stereotypy Hemiparesis Status epilepticus Sleep disturbance Multiple trichilemmomata Bone cyst Merkel cell skin cancer Hamartomatous polyposis Subcutaneous lipoma Prolactin excess Colonic diverticula Decreased proportion of CD4-positive T cells Megalencephaly Neoplasm of the central nervous system Generalized hyperkeratosis Meningioma Fibroma Hydrocele testis Angioid streaks of the fundus Papilloma Arteriovenous malformation Furrowed tongue Abnormality of the uterus Ovarian cyst Intestinal polyposis Enlarged polycystic ovaries Cavernous hemangioma Long penis Abnormality of the penis Ovarian carcinoma Ductal carcinoma in situ Transitional cell carcinoma of the bladder Conjunctival hamartoma Dysplastic gangliocytoma of the cerebellum Trichilemmoma Enlarged cerebellum Cutis marmorata telangiectatica congenita Scaphocephaly Fibroadenoma of the breast Cellular immunodeficiency Lipoma Abnormality of the vasculature Intestinal polyp Acrokeratosis Mucosal telangiectasiae Pseudopapilledema Progressive macrocephaly Colorectal polyposis Endometrial carcinoma Follicular thyroid carcinoma Papilledema Varicocele Thyroid adenoma Neoplasm of the thyroid gland Astigmatism Abnormality of the skeletal system Absent in utero ossification of vertebral bodies High forehead Micropenis Brachycephaly Obesity Syndactyly Wide nasal bridge Hypertension Ptosis Intralobar nephroblastomatosis Unossified sacrum Autistic behavior Absent in utero rib ossification Lumbosacral meningocele Abnormal liver lobulation Nephrogenic rest Unossified vertebral bodies Nephroblastomatosis Absent or minimally ossified vertebral bodies Abnormal vertebral segmentation and fusion Narrow pelvis bone Increased nuchal translucency Telecanthus Short philtrum Cystic renal dysplasia Self-injurious behavior Multiple exostoses Parietal foramina Congenital ptosis Craniofacial dysostosis Sparse lateral eyebrow Decreased skull ossification Depressed nasal tip Exostoses Turricephaly Aniridia Sparse eyebrow Prominent nasal bridge Cutaneous syndactyly Wormian bones Abnormality of the genital system Underdeveloped nasal alae Prominent nose Broad nasal tip Single transverse palmar crease Downturned corners of mouth Delayed puberty Broad forehead Enlarged thorax Disproportionate short-trunk short stature Ventricular septal defect Round face Long foot Large for gestational age Bowing of the legs Large hands Spina bifida occulta Spina bifida Tall stature Mitral valve prolapse Intestinal malrotation Neutropenia Retinal coloboma Thick vermilion border Talipes Coloboma Protruding ear Deeply set eye Pes planus Macrotia Abnormal heart morphology Hernia Midface retrusion Varicose veins Long hallux Hypoplastic fingernail Depressed nasal ridge Missing ribs Myelomeningocele Bell-shaped thorax Tracheomalacia Protuberant abdomen Vertebral segmentation defect Thoracic hypoplasia Short thorax Hammertoe Large fontanelles Small nail Renal malrotation Abnormality of the ribs Oligohydramnios Webbed neck Pulmonary hypoplasia Respiratory distress Short neck Intrauterine growth retardation Depressed nasal bridge Cleft palate Bifid ureter Ovarian neoplasm Hypoplasia of the maxilla Hyperthyroidism Pyloric stenosis Acute kidney injury Hyperuricemia Glomerulopathy Glycosuria Hypoplasia of the uterus Glucose intolerance Unilateral renal agenesis Polydipsia Chronic kidney disease Exocrine pancreatic insufficiency Multicystic kidney dysplasia Horseshoe kidney Nephrolithiasis Renal hypoplasia Renal agenesis Hirsutism Stage 5 chronic kidney disease Joint hyperflexibility Infertility Proportionate short stature Gout Elevated hepatic transaminase Absent vas deferens Optic atrophy Abnormality of alkaline phosphatase activity Atretic vas deferens Abnormality of endocrine pancreas physiology Abnormality of exocrine pancreas physiology Aplasia/Hypoplasia of the pancreas Decreased numbers of nephrons Papillary cystadenoma of the epididymis Epididymal cyst Multiple glomerular cysts Elevated serum creatinine Renal cortical cysts Reduced sperm motility Renal Fanconi syndrome Uterus didelphys Pancreatic hypoplasia Ureteropelvic junction obstruction Biliary tract abnormality Maturity-onset diabetes of the young Bicornuate uterus Arthritis Jaundice Arrhythmia Peripheral demyelination Increased HDL cholesterol concentration Abetalipoproteinemia Decreased LDL cholesterol concentration Hypocholesterolemia Fat malabsorption Acanthocytosis Abnormality of the coagulation cascade Reduced tendon reflexes Abnormality of retinal pigmentation Hepatic failure Spasticity Retinal degeneration Abnormality of movement Malabsorption Rod-cone dystrophy Thrombocytopenia Gait disturbance Fever Peripheral neuropathy Visual impairment Steatocystoma multiplex Flexion contracture Mandibular prognathia Absent septum pellucidum Cerebral cortical atrophy Diabetes mellitus Hypospadias Abnormality of the dentition Noncommunicating hydrocephalus Corticospinal tract hypoplasia Flexion contracture of thumb Clear cell renal cell carcinoma Aqueductal stenosis Hemiplegia/hemiparesis Ventriculomegaly Adducted thumb Holoprosencephaly Paraplegia Spastic paraplegia Abnormal pyramidal sign Joint stiffness Coarse facial features Agenesis of corpus callosum Intellectual disability, severe Congestive heart failure Anxiety Cellulitis Pectus excavatum Lymphoma Abnormal cerebellum morphology Palmoplantar keratoderma Joint hypermobility Nausea and vomiting Intellectual disability, moderate Proximal muscle weakness Narrow mouth Recurrent infections Intention tremor Headache Immunodeficiency Kyphosis Myopathy Atrial septal defect Frontal bossing Tremor Skeletal muscle atrophy High palate Decreased antibody level in blood Broad thumb Muscle weakness Palmoplantar hyperkeratosis Cystic hygroma Multiple lipomas Abnormality of the thyroid gland Cutis marmorata Melanocytic nevus Hand polydactyly Intracranial hemorrhage Dysdiadochokinesis Incoordination Goiter Telangiectasia Breast carcinoma Melanoma Hemangioma Drooling Cranial nerve paralysis Neoplasm of the skin Lymphopenia Gynecomastia Exotropia Pain Scoliosis Attention deficit hyperactivity disorder Prominent occiput Gingival fibromatosis Abnormality of the pancreas Wolff-Parkinson-White syndrome Abnormality of the respiratory system Gingivitis Neoplasm of the pancreas Nevus flammeus Infantile spasms Cortical dysplasia Emphysema Rhabdomyosarcoma Abnormality of neuronal migration Precocious puberty Atrioventricular block Aplasia/Hypoplasia of the corpus callosum Bradycardia Generalized-onset seizure Cerebral calcification Specific learning disability Iris coloboma Pneumothorax Abnormality of the pleura Subependymal giant-cell astrocytoma Subependymal nodules Rhabdomyoma Subungual fibromas Achromatic retinal patches Pulmonary lymphangiomyomatosis Confetti-like hypopigmented macules Ungual fibroma Dental enamel pits Hypomelanotic macule Cardiac rhabdomyoma Cortical tubers Chylothorax Chordoma Retinal hamartoma Angiofibromas Renal angiomyolipoma Optic nerve glioma Macrodactyly Shagreen patch Ependymoma Third degree atrioventricular block Cutaneous syndactyly between fingers 2 and 5


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