Intellectual disability, severe, and Jaundice

Diseases related with Intellectual disability, severe and Jaundice

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

Top matches:

Thyroid hypoplasia is a form of thyroid dysgenesis (see this term) characterized by incomplete development of the thyroid gland that results in primary congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth.

Related symptoms:

  • Global developmental delay
  • Short stature
  • Growth delay
  • Muscular hypotonia
  • Fatigue


SOURCES: ORPHANET MENDELIAN

More info about THYROID HYPOPLASIA

Epimerase-deficiency galactosemia was originally described as a benign condition in which GALE impairment is restricted to circulating red and white blood cells (Gitzelmann, 1972). Fibroblasts, liver, phytohemagglutinin-stimulated leukocyes, and Epstein Barr virus-transformed lymphoblasts from these patients all demonstrated normal or near-normal levels of GALE, leading to the designation 'peripheral' (or 'isolated') epimerase deficiency. A second form of epimerase deficiency became apparent in which a patient, despite normal GALT activity, presented with symptoms reminiscent of classic galactosemia and demonstrated severely impaired GALE activity in both red blood cells and fibroblasts (Holton et al., 1981). This form was designated 'generalized' epimerase deficiency. Openo et al. (2006) demonstrated that epimerase deficiency is in fact not a binary condition but is, rather, a continuum disorder.GALE encodes the third enzyme in the Leloir pathway of galactose metabolism. Galactosemia I is classic galactosemia (OMIM ), caused by deficiency of the second enzyme in the Leloir pathway, galactose-1-phosphate uridylyl-transferase (GALT ). Galactosemia II (OMIM ) is caused by deficiency of the first enzyme in the Leloir pathway, galactokinase (GALK ).

GALACTOSE EPIMERASE DEFICIENCY Is also known as udp-galactose-4-epimerase deficiency|gale deficiency|galactosemia iii

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about GALACTOSE EPIMERASE DEFICIENCY

High match THYROID ECTOPIA

Thyroid ectopia is a form of thyroid dysgenesis (see this term) characterized by an ectopic location of the thyroid gland that results in primary congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth.

Related symptoms:

  • Global developmental delay
  • Short stature
  • Growth delay
  • Muscle weakness
  • Muscular hypotonia


SOURCES: ORPHANET MENDELIAN

More info about THYROID ECTOPIA

Other less relevant matches:

Isolated thyroid-stimulating hormone (TSH) deficiency is a type of central congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth, characterized by low levels of thyroid hormones due to a deficiency in TSH synthesis.

ISOLATED THYROID-STIMULATING HORMONE DEFICIENCY Is also known as isolated thyrotropin deficiency|thyrotropin deficiency, isolated|pituitary cretinism|isolated tsh deficiency|tsh deficiency|thyroid-stimulating hormone deficiency

Related symptoms:

  • Generalized hypotonia
  • Muscular hypotonia
  • Feeding difficulties
  • Depressed nasal bridge
  • Fatigue


SOURCES: ORPHANET OMIM MENDELIAN

More info about ISOLATED THYROID-STIMULATING HORMONE DEFICIENCY

Lysinuric protein intolerance (LPI) is a very rare inherited multisystem condition caused by distrubance in amino acid metabolism.

LYSINURIC PROTEIN INTOLERANCE Is also known as lpi|hyperdibasic aminoaciduria type 2|dibasic amino aciduria ii

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Failure to thrive
  • Muscle weakness


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about LYSINURIC PROTEIN INTOLERANCE

Congenital intrauterine infection-like syndrome is characterised by the presence of microcephaly and intracranial calcifications at birth accompanied by neurological delay, seizures and a clinical course similar to that seen in patients after intrauterine infection with Toxoplasma gondii, Rubella, Cytomegalovirus, Herpes simplex (so-called TORCH syndrome), or other agents, despite repeated tests revealing the absence of any known infectious agent.

CONGENITAL INTRAUTERINE INFECTION-LIKE SYNDROME Is also known as baraitser-reardon syndrome|bilateral band-like calcification with polymicrogyria|blc-pmg|blcpmg|band-like calcification with simplified gyration and polymicrogyria|microcephaly-intracranial calcification-intellectual disability syndrome|pseudo-torch syndr

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about CONGENITAL INTRAUTERINE INFECTION-LIKE SYNDROME

Prolidase deficiency is an inherited disorder of peptide metabolism characterized by severe skin lesions, recurrent infections (involving mainly the skin and respiratory system), dysmorphic facial features, variable cognitive impairment, and splenomegaly.

PROLIDASE DEFICIENCY Is also known as hyperimidodipeptiduria

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about PROLIDASE DEFICIENCY

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

The peroxisome biogenesis disorder (PBD) Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome. Affected children present in the newborn period with profound hypotonia, seizures, and inability to feed. Characteristic craniofacial anomalies, eye abnormalities, neuronal migration defects, hepatomegaly, and chondrodysplasia punctata are present. Children with this condition do not show any significant development and usually die in the first year of life (summary by Steinberg et al., 2006).For a complete phenotypic description and a discussion of genetic heterogeneity of Zellweger syndrome, see {214100}.Individuals with PBDs of complementation group 2 (CG2) have mutations in the PEX5 gene. For information on the history of PBD complementation groups, see {214100}.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Hypertelorism
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER); PBD2A

Congenital hypopituitarism is characterized by multiple pituitary hormone deficiency, including somatotroph, thyrotroph, lactotroph, corticotroph or gonadotroph deficiencies, due to mutations of pituitary transcription factors involved in pituitary ontogenesis. Congenital hypopituitarism is rare compared with the high incidence of hypopituitarism induced by pituitary adenomas, transsphenoidal surgery or radiotherapy.

COMBINED PITUITARY HORMONE DEFICIENCIES, GENETIC FORMS Is also known as multiple pituitary hormone deficiencies, genetic forms|familial congenital hypopituitarism

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about COMBINED PITUITARY HORMONE DEFICIENCIES, GENETIC FORMS

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

Symptoms // Phenotype % cases
Muscular hypotonia Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Large fontanelles Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Short stature Hepatomegaly Macroglossia Hypothyroidism Constipation Growth delay Abdominal distention Coarse facial features Splenomegaly Hearing impairment Failure to thrive Cataract Feeding difficulties Prolonged neonatal jaundice Hypertelorism Depressed nasal bridge Seizures Umbilical hernia Aminoaciduria Thrombocytopenia Micrognathia Anemia Depressed nasal ridge Vomiting Fatigue Abnormality of the face

Rare Symptoms - Less than 30% cases

High forehead Diarrhea Renal insufficiency Delayed skeletal maturation Skin rash Osteopenia Hypogonadism Abnormality of the eye Dry skin Hypotension Systemic lupus erythematosus Prominent forehead High palate Malar flattening Short nose Elevated hepatic transaminase Petechiae Palpebral edema Opacification of the corneal stroma Hepatosplenomegaly Anteverted nares Nystagmus Visual impairment Abnormal facial shape Acidosis Growth hormone deficiency Pituitary hypothyroidism Congenital hypothyroidism Sleep disturbance Abnormality of metabolism/homeostasis Hypopituitarism Aciduria Severe postnatal growth retardation Nausea and vomiting Intellectual disability, progressive Abnormality of the thyroid gland Muscle weakness Pseudohypoparathyroidism Hoarse cry Sensorineural hearing impairment Thyroid hypoplasia Ectopic thyroid Concave nasal ridge Delayed speech and language development Abnormal pericardium morphology Recurrent cystitis Abnormality of the immune system Chronic lung disease Increased thyroid-stimulating hormone level Hypoplasia of the zygomatic bone Thyroid dysgenesis Thyroid agenesis Aplasia/Hypoplasia of the skin Angiokeratoma corporis diffusum Compensated hypothyroidism Large posterior fontanelle Abnormality of reproductive system physiology Cleft palate Cryptorchidism Epicanthus Intrauterine growth retardation Talipes equinovarus Abnormality of cardiovascular system morphology Areflexia Primary hypothyroidism Intestinal obstruction Anterior hypopituitarism Abnormality of epiphysis morphology Crusting erythematous dermatitis Facial hirsutism Poliosis Hypertension Optic atrophy Depressivity Arrhythmia Anxiety Feeding difficulties in infancy Paresthesia Oral cleft Nephrolithiasis Sinusitis Hypothermia Abnormality of the hair Reduced tendon reflexes Abnormality of the middle ear White forelock Oligodontia Anosmia Goiter Abnormality of vision Growth abnormality Diffuse telangiectasia Tracheoesophageal fistula Abnormal eyelid morphology Abnormal heart morphology Elevated long chain fatty acids Upslanted palpebral fissure Aspiration pneumonia Infertility Ascites Decreased testicular size Amenorrhea Aspiration Hoarse voice Hypogonadotrophic hypogonadism Holoprosencephaly Optic nerve hypoplasia Adrenal insufficiency Delayed cranial suture closure Hypoplastic left heart Abnormality of digit Absent septum pellucidum Short attention span Pulmonic stenosis Absence of secondary sex characteristics Anterior pituitary hypoplasia Median cleft lip and palate Decreased circulating ACTH level Ectopic posterior pituitary Septo-optic dysplasia Aplasia/Hypoplasia of the breasts Pituitary dwarfism Abnormal prolactin level Moon facies Decreased cervical spine mobility Abnormality of secondary sexual hair Osteoporosis of vertebrae Anterior pituitary agenesis Delayed puberty Severe global developmental delay Camptodactyly Abnormality of the mitochondrion Apnea Developmental regression Dolichocephaly Single transverse palmar crease Pigmentary retinopathy Joint contracture of the hand Poor suck Polycystic kidney dysplasia Cubitus valgus Clitoral hypertrophy Metatarsus adductus Turricephaly Abnormality of the helix Hypoplasia of the thymus Optic nerve dysplasia Deeply set eye Brushfield spots Elevated erythrocyte sedimentation rate Intrahepatic biliary dysgenesis Stippled chondral calcification Strabismus Frontal bossing Edema Midface retrusion Patent ductus arteriosus Pneumonia Agenesis of corpus callosum Polydactyly Polyhydramnios Hypoglycemia Abnormality of the hip bone Recurrent respiratory infections Increased antibody level in blood Oroticaciduria Hyperextensible skin Glomerulonephritis Abnormality of the coagulation cascade Malnutrition Truncal obesity Glomerulopathy Increased serum ferritin Hemophagocytosis Micronodular cirrhosis Hyperlysinuria Psychotic episodes Alveolar proteinosis Pulmonary hemorrhage Cutis laxa Protein avoidance Ornithinuria Argininuria Asterixis Microcephaly Spasticity Low-set ears Hyperreflexia Fever Ventriculomegaly Cardiomyopathy Hypertonia Long philtrum Hyperammonemia Leukopenia Cerebellar hypoplasia Respiratory insufficiency Weight loss Delayed gross motor development Hypergalactosemia Galactosuria Impairment of galactose metabolism Hypersomnia Omphalocele Wide anterior fontanel Narcolepsy Hypothalamic hypothyroidism Craniopharyngioma Cognitive impairment Skeletal muscle atrophy Osteoporosis Pancreatitis Sparse hair Malabsorption Stage 5 chronic kidney disease Nausea Cirrhosis Metabolic acidosis Coma Recurrent fractures Postural instability Abnormal bleeding Brain atrophy Increased serum lactate Fine hair Microphthalmia Cerebral cortical atrophy Osteomyelitis Low posterior hairline Proptosis Erythema Papule Pruritus Carious teeth Genu valgum Arachnodactyly Hirsutism Palmoplantar keratoderma Asthma Convex nasal ridge Dehydration Hepatitis Cutaneous photosensitivity Obesity Inflammatory abnormality of the skin Thin skin Abnormal lung morphology Abnormality of retinal pigmentation Lymphedema Skin ulcer Low anterior hairline Bilateral single transverse palmar creases Recurrent pneumonia Generalized hirsutism Abnormality of the fingernails Reduced bone mineral density Psoriasiform dermatitis Hyperkeratosis Recurrent infections Micropenis Intellectual disability, profound Muscular hypotonia of the trunk Hypertrophic cardiomyopathy Abnormality of the liver Corneal opacity Generalized tonic-clonic seizures Congenital cataract Abnormality of movement Polymicrogyria Tetraplegia Gliosis Neuronal loss in central nervous system Cerebral calcification Sloping forehead Status epilepticus Intellectual disability, mild Tetraparesis Pachygyria Postnatal microcephaly Decreased liver function Cerebral visual impairment Microretrognathia Purpura Spastic tetraparesis Lissencephaly Increased CSF protein Congenital microcephaly Ptosis Downslanted palpebral fissures Ectopic anterior pituitary gland


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