Intellectual disability, severe, and Nephrolithiasis

Diseases related with Intellectual disability, severe and Nephrolithiasis

In the following list you will find some of the most common rare diseases related to Intellectual disability, severe and Nephrolithiasis that can help you solving undiagnosed cases.

Top matches:

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Spasticity
  • Hypertension


SOURCES: OMIM ORPHANET MENDELIAN

More info about PRIMARY HYPERALDOSTERONISM-SEIZURES-NEUROLOGICAL ABNORMALITIES SYNDROME

Hypotonia-Cystinuria syndrome (HCS) is a rare syndrome including neonatal and infantile hypotonia and failure to thrive, cystinuria type 1 and nephrolithiasis, growth retardation due to growth hormone deficiency, and minor facial dysmorphism.

HYPOTONIA-CYSTINURIA SYNDROME Is also known as cystinuria with mitochondrial disease|hcs|homozygous 2p16 deletion syndrome, formerly

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about HYPOTONIA-CYSTINURIA SYNDROME

Resistance to thyroid-stimulating hormone (TSH; see {188540}), a hallmark of congenital nongoitrous hypothyroidism, causes increased levels of plasma TSH and low levels of thyroid hormone. Only a subset of patients develop frank hypothyroidism; the remainder are euthyroid and asymptomatic (so-called compensated hypothyroidism) and are usually detected by neonatal screening programs (Paschke and Ludgate, 1997). Genetic Heterogeneity of Congenital Nongoitrous HypothyroidismCHNG2 (OMIM ) is caused by mutation in the PAX8 gene (OMIM ) on chromosome 2q12-q14; CHNG3 (OMIM ) maps to a locus on chromosome 15q25.3; CHNG4 (OMIM ) is caused by mutation in the TSHB gene (OMIM ) on chromosome 1p13; CHNG5 (OMIM ) is caused by mutation in the NKX2-5 gene (OMIM ) on chromosome 5q34; and CHNG6 (OMIM ) is caused by mutation in the THRA gene (OMIM ) on chromosome 17q21.1.

HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1; CHNG1 Is also known as tsh resistance|hypothyroidism, congenital, due to tsh resistance|hypothyroidism, nonautoimmune|rtsh|thyrotropin resistance|hypothyroidism due to unresponsiveness to thyrotropin|thyroid-stimulating hormone, resistance to

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Muscular hypotonia


SOURCES: OMIM ORPHANET MENDELIAN

More info about HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1; CHNG1

Other less relevant matches:

Atypical Rett syndrome (atypical RTT) is a neurodevelopmental disorder that is diagnosed when a child presents with a Rett-like syndrome but does not fulfill all the diagnostic criteria for typical Rett syndrome (classic/typical RTT; see this term).

ATYPICAL RETT SYNDROME Is also known as atypical rtt|rett syndrome variant|autism, dementia, ataxia, and loss of purposeful hand use|rts

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about ATYPICAL RETT SYNDROME

Zimmermann-Laband syndrome (ZLS) is a rare disorder characterized by gingival fibromatosis, coarse facial appearance, and absence or hypoplasia of nails or terminal phalanges of hands and feet.

ZIMMERMANN-LABAND SYNDROME Is also known as laband syndrome|gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome|fibromatosis, gingival, with abnormal fingers, fingernails, nose, and ears, and splenomegaly

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ZIMMERMANN-LABAND SYNDROME

Dicarboxylicaminoaciduria is characterised by infantile-onset hypoglycaemia and hyperprolinaemia associated, in certain cases, with intellectual deficit.

DICARBOXYLIC AMINOACIDURIA Is also known as glutamate-aspartate transport defect

Related symptoms:

  • Intellectual disability
  • Hypoglycemia
  • Nephrolithiasis
  • Aminoaciduria
  • Obsessive-compulsive behavior


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about DICARBOXYLIC AMINOACIDURIA

Medium match IMINOGLYCINURIA

Iminoglycinuria is a metabolic disorder resulting from defective renal tube reabsorption of proline, hydroxyproline and glycine. The prevalence is estimated at around 1 in 15 000. The disorder is usually asymptomatic and is identified fortuitously by detection of increased levels of the imino acids and glycine in the urine. It is transmitted as an autosomal recessive trait.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Spasticity
  • Blindness


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about IMINOGLYCINURIA

Autosomal recessive infantile hypercalcemia is a rare, genetic, phosphocalcic metabolism disorder characterized by early-onset hypercalcemia, hypophosphatemia, hypercalciuria, decreased intact parathyroid hormone serum levels and medullary nephrocalcinosis, typically manifesting with failure to thrive, hypotonia, vomiting, constipation and/or polyuria.

AUTOSOMAL RECESSIVE INFANTILE HYPERCALCEMIA Is also known as familial infantile hypercalcemia with suppressed intact parathyroid hormone|hypercalcemia, idiopathic, of infancy

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Failure to thrive
  • Muscular hypotonia
  • Vomiting


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE INFANTILE HYPERCALCEMIA

Medium match CYSTINURIA

Cystinuria is an autosomal disorder characterized by impaired epithelial cell transport of cystine and dibasic amino acids (lysine, ornithine, and arginine) in the proximal renal tubule and gastrointestinal tract. The impaired renal reabsorption of cystine and its low solubility causes the formation of calculi in the urinary tract, resulting in obstructive uropathy, pyelonephritis, and, rarely, renal failure (summary by Barbosa et al., 2012).

CYSTINURIA Is also known as cystinuria, type non-i, formerly|cystinuria, type i, formerly|cystinuria, type iii, formerly|csnu1, formerly|csnu|csnu3, formerly|cystinuria, type ii, formerly

Related symptoms:

  • Intellectual disability
  • Pain
  • Renal insufficiency
  • Abnormality of the nervous system
  • Nausea


SOURCES: ORPHANET OMIM MENDELIAN

More info about CYSTINURIA

RENAL TUBULAR ACIDOSIS, DISTAL, WITH PROGRESSIVE NERVE DEAFNESS Is also known as rta with progressive nerve deafness|renal tubular acidosis with progressive nerve deafness|renal tubular acidosis, autosomal recessive, with progressive nerve deafness

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Failure to thrive
  • Sensorineural hearing impairment
  • Vomiting


SOURCES: OMIM MENDELIAN

More info about RENAL TUBULAR ACIDOSIS, DISTAL, WITH PROGRESSIVE NERVE DEAFNESS

Top 5 symptoms//phenotypes associated to Intellectual disability, severe and Nephrolithiasis

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Global developmental delay Common - Between 50% and 80% cases
Hearing impairment Uncommon - Between 30% and 50% cases
Muscular hypotonia Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Intellectual disability, severe and Nephrolithiasis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Generalized hypotonia Abnormality of the eye Cystinuria Coarse facial features Failure to thrive Abnormality of the nervous system Hypertension Spasticity

Rare Symptoms - Less than 30% cases

Vomiting Posteriorly rotated ears Cataract Acidosis Macrotia Aciduria Feeding difficulties in infancy Aminoaciduria Abnormal facial shape Short stature Hypogonadism Macroglossia Intellectual disability, profound Umbilical hernia Anxiety Thick lower lip vermilion Bilateral sensorineural hearing impairment Growth abnormality Scoliosis Strabismus Sensorineural hearing impairment Encephalopathy Progressive encephalopathy Paralysis Wide mouth Accelerated skeletal maturation Thick vermilion border Growth delay Constipation Dehydration Blindness Nausea Cerebral palsy Alkalosis Nephrocalcinosis Generalized-onset seizure Hepatomegaly Brachydactyly Metabolic acidosis Wide nasal bridge High palate Myopia Macrocephaly Downslanted palpebral fissures Abnormality of the skeletal system Cardiomyopathy Congestive heart failure Splenomegaly Stage 5 chronic kidney disease Dilatation Hypocapnia Hernia Patent ductus arteriosus Polydactyly Mandibular prognathia Dyspnea Polyhydramnios Hepatosplenomegaly Protruding ear Broad forehead Congenital cataract Synophrys Joint hypermobility Bulbous nose Thick eyebrow Gait apraxia Abnormality of the antitragus Nonprogressive encephalopathy Overweight Postnatal microcephaly Truncal ataxia Distal renal tubular acidosis Paraparesis Spastic paraparesis Abnormality of the fingernails Abnormality of the metacarpal bones Cachexia Aplasia/Hypoplasia of the cerebellum Osteopetrosis Renal tubular acidosis Alzheimer disease Prolonged QT interval Thoracic scoliosis Loss of speech Intermittent hyperventilation Rickets Hyperventilation Bruxism Developmental stagnation Motor deterioration Astrocytosis Abnormal T-wave Esodeviation Prolonged QTc interval Abnormal muscle tone Cerebral calcification Short distal phalanx of the thumb Respiratory alkalosis Argininuria Short distal phalanx of finger Overgrowth Hirsutism Severe global developmental delay Biliary atresia Generalized hypertrichosis Everted upper lip vermilion Aortic arch aneurysm Prominent eyelashes Short distal phalanx of toe Mesiodens Hypoglycemia Hematuria Obsessive-compulsive behavior Fasting hypoglycemia Generalized aminoaciduria Nephropathy Hyperprolinemia Hypophosphatemia Hyperextensibility of the finger joints Infantile hypercalcemia Hypercalciuria Pulmonic stenosis Hypercalcemia Polyuria Lethargy Weight loss Hyperornithinemia Renal insufficiency Prolinuria Hydroxyprolinuria Hyperglycinuria Medullary nephrocalcinosis Elfin facies Pain Cavernous hemangioma Gingival fibromatosis Delayed eruption of teeth Large for gestational age Aortic valve stenosis Ornithinuria Small nail Abnormality of amino acid metabolism Hypertrichosis Thickened skin Gingival overgrowth Generalized hirsutism Hemivertebrae Intellectual disability, progressive Hypocalcemic tetany Spina bifida occulta Hemangioma Metaphyseal widening Anonychia Long penis Dystrophic fingernails Colpocephaly Recurrent urinary tract infections Hyperparathyroidism Hyperuricemia Acute kidney injury Thin bony cortex Broad ribs Flank pain Protruding tongue Tetany Aortic root aneurysm Pyelonephritis Hyperlysinuria Pericardial effusion Progressive neurologic deterioration Aggressive behavior Fine hair Dolichocephaly Hypergonadotropic hypogonadism Long eyelashes Decreased fetal movement Growth hormone deficiency Lactic acidosis Arthrogryposis multiplex congenita Facial palsy Hypocalcemia Intellectual disability, moderate Neonatal hypotonia Retrognathia Areflexia Frontal bossing Fatigue Increased body weight Severe muscular hypotonia Motor delay Optic atrophy Dry skin Paresthesia Jaundice Hypothyroidism Arrhythmia Depressivity Feeding difficulties Tented upper lip vermilion Severe failure to thrive Neonatal hypoglycemia Central hypotonia Polyphagia Abnormality of mitochondrial metabolism Nasal speech Epicanthus Depressed nasal bridge Sleep disturbance Ventricular hypertrophy Hypokalemia Atrioventricular block Tinnitus Cerebral visual impairment Left ventricular hypertrophy Epistaxis Pulmonary arterial hypertension Intracranial hemorrhage Spastic tetraplegia Tetraplegia Generalized tonic-clonic seizures Spastic paraplegia Headache Ventricular septal defect Patent foramen ovale Polydipsia Ptosis Uterine rupture Muscle weakness EMG: impaired neuromuscular transmission Focal myoclonic seizures Primary hyperaldosteronism Dexamethasone-suppresible primary hyperaldosteronism Abnormal circulating renin Second degree atrioventricular block Focal impaired awareness seizure Caesarian section Biventricular hypertrophy Decreased circulating renin level Metabolic alkalosis Adrenal hyperplasia Hyperaldosteronism Athetosis Oral cleft Abdominal distention Apraxia Long philtrum Gait ataxia Cerebral cortical atrophy Hyperactivity Dementia Clinodactyly of the 5th finger Hypospadias Kyphosis Gastroesophageal reflux Intellectual disability, mild Dystonia Abnormality of the dentition Atrial septal defect Ventriculomegaly Tremor Autism Kyphoscoliosis Cryptorchidism Muscular dystrophy Underdeveloped nasal alae Short foot Inability to walk Wide nose Confusion Abnormality of movement Attention deficit hyperactivity disorder EEG abnormality Camptodactyly of finger Autistic behavior Developmental regression Mental deterioration Apnea Muscular hypotonia of the trunk Rigidity Skeletal muscle atrophy Ataxia Hypotension Oligodontia Abnormality of the thyroid gland Tracheoesophageal fistula Intestinal obstruction Abnormality of vision Goiter Anosmia Reduced tendon reflexes Congenital hypothyroidism Abnormality of the hair Sinusitis Abnormality of epiphysis morphology Large fontanelles Abnormality of the face Depressed nasal ridge Prolonged neonatal jaundice Palpebral edema Microcephaly Abnormal pericardium morphology Abnormality of reproductive system physiology Large posterior fontanelle Thyroid dysgenesis Compensated hypothyroidism Angiokeratoma corporis diffusum Thyroid agenesis Ectopic thyroid Abnormal eyelid morphology Hoarse cry Increased thyroid-stimulating hormone level Thyroid hypoplasia Primary hypothyroidism Pseudohypoparathyroidism Anterior hypopituitarism Hypothermia Renal potassium wasting


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