Anemia, and Congenital cataract

Diseases related with Anemia and Congenital cataract

In the following list you will find some of the most common rare diseases related to Anemia and Congenital cataract that can help you solving undiagnosed cases.


Top matches:

Medium match 3-PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY, INFANTILE/JUVENILE FORM


3-Phosphoglycerate dehydrogenase deficiency (3-PGDH deficiency) is an autosomal recessive form of serine deficiency syndrome (see this term) characterized clinically in the few reported cases by congenital microcephaly, psychomotor retardation and intractable seizures in the infantile form and by absence seizures, moderate developmental delay and behavioral disorders in the juvenile form

3-PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY, INFANTILE/JUVENILE FORM Is also known as phgdh deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Growth delay


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about 3-PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY, INFANTILE/JUVENILE FORM

Medium match AUTOSOMAL DOMINANT KENNY-CAFFEY SYNDROME


Kenny-Caffey syndrome is characterized by severe proportionate short stature, cortical thickening and medullary stenosis of the tubular bones, delayed closure of the anterior fontanel, eye abnormalities, and transient hypocalcemia. Patients with autosomal dominant KCS type 2 have normal intelligence (Kenny and Linarelli, 1966; Caffey, 1967; summary by Isojima et al., 2014).See KCS1 (OMIM ) for a discussion of an autosomal recessive form of Kenny-Caffey syndrome.

AUTOSOMAL DOMINANT KENNY-CAFFEY SYNDROME Is also known as kenny syndrome|dwarfism, cortical thickening of tubular bones, and transient hypocalcemia

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL DOMINANT KENNY-CAFFEY SYNDROME

Medium match DPAGT1-CDG


DPAGT1-CDG is a form of congenital disorders of N-linked glycosylation characterized by hypotonia, intractable seizures, developmental delay, microcephaly and severe fetal hypokinesia. Additional features that may be observed include apnea and respiratory deficiency, cataracts, joint contractures, vermian hypoplasia, dysmorphic features (esotropia, arched palate, micrognathia, finger clinodactyly, single flexion creases) and feeding difficulties. The disease is caused by loss-of-function mutations in the gene DPAGT1 (11q23.3).

DPAGT1-CDG Is also known as cdg syndrome type ij|cdg-ij|congenital disorder of glycosylation type 1j|cdgij|cdg1j|carbohydrate deficient glycoprotein syndrome type ij|cdg ij|dolichyl-phosphate n-acetylgalactosamine phosphotransferase deficiency|congenital disorder of glycosylation ty

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about DPAGT1-CDG

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Other less relevant matches:

Medium match HYPERFERRITINEMIA WITH OR WITHOUT CATARACT; HRFTC


HYPERFERRITINEMIA WITH OR WITHOUT CATARACT; HRFTC Is also known as hyperferritinemia-cataract syndrome|hyperferritinemia, hereditary, with congenital cataracts|hhcs

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about HYPERFERRITINEMIA WITH OR WITHOUT CATARACT; HRFTC

Medium match CONGENITAL INTRAUTERINE INFECTION-LIKE SYNDROME


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

Medium match ALPHA-THALASSEMIA-INTELLECTUAL DISABILITY SYNDROME LINKED TO CHROMOSOME 16


Alpha-thalassemia-intellectual deficit syndrome linked to chromosome 16 (ATR-16), a contiguous gene deletion syndrome, is a form of alpha-thalassemia (see this term) characterized by microcytosis, hypochromia, normal hemoglobin (Hb) level or mild anemia, associated with developmental abnormalities.

ALPHA-THALASSEMIA-INTELLECTUAL DISABILITY SYNDROME LINKED TO CHROMOSOME 16 Is also known as hbhr|atr syndrome, deletion type|alpha thalassemia-mental retardation syndrome|mental retardation with hemoglobin h|alpha thalassemia-intellectual disability syndrome, deletion type|alpha-thalassemia/mental retardation syndrome, deletion-type|atr, deletio

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about ALPHA-THALASSEMIA-INTELLECTUAL DISABILITY SYNDROME LINKED TO CHROMOSOME 16

Medium match METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE; MAHCC


Combined methylmalonic aciduria (MMA) and homocystinuria is a genetically heterogeneous disorder of cobalamin (cbl; vitamin B12) metabolism. The defect causes decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl), which results in decreased activity of the respective enzymes methylmalonyl-CoA mutase (MUT ) and methyltetrahydrofolate:homocysteine methyltransferase, also known as methionine synthase (MTR ). Different forms of the disorder have been classified according to complementation groups of cells in vitro: cblC, cblD (OMIM ), cblF (OMIM ), and cblJ (OMIM ).Isolated methylmalonic acidurias have also been classified by complementation groups: MMA 'mut' (OMIM ) is caused by mutation in the MUT gene on chromosome 6p21; MMA cblA (OMIM ) is caused by mutation in the MMAA gene (OMIM ) on 4q31; and MMA cblB (OMIM ) is caused by mutation in the MMAB gene (OMIM ) on 12q24.Methylmalonic aciduria and homocystinuria, cblC type, is the most common inborn error of vitamin B12 (cobalamin) metabolism, with about 250 known cases (Lerner-Ellis et al., 2006). Affected individuals may have developmental, hematologic, neurologic, metabolic, ophthalmologic, and dermatologic clinical findings. Although considered a disease of infancy or childhood, some individuals develop symptoms in adulthood (Rosenblatt et al., 1997).

METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE; MAHCC Is also known as vitamin b12 metabolic defect with combined deficiency of methylmalonyl-coa mutase and homocysteine:methyltetrahydrofolate methyltransferase|methylmalonic aciduria and homocystinuria, vitamin b12-responsive|methylmalonic acidemia and homocystinuria, cblc t

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE; MAHCC

Low match INTELLECTUAL DISABILITY-CATARACTS-CALCIFIED PINNAE-MYOPATHY SYNDROME


Intellectual disability-cataracts-calcified pinnae-myopathy syndrome is a rare, genetic intellectual disability syndrome characterized by macrocephaly, hypotonia, dysmorphic facial features (wide forehead, ptosis, downslanting palpebral fissures, enlarged and calcified external ears, large jaw), sparse body hair, tall stature, and intellectual disability. Hearing loss, insulin-resistant diabetes, and progressive distal muscle wasting (leading to joint contractures) have also been reported in adulthood. Rare manifestations include behavioral abnormalities (aggression and restlessness), hypothyroidism, cerebral calcification, ataxia, and peripheral neuropathy.

INTELLECTUAL DISABILITY-CATARACTS-CALCIFIED PINNAE-MYOPATHY SYNDROME Is also known as primrose syndrome|ossified ear cartilages with mental deficiency, muscle wasting, and bony changes

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about INTELLECTUAL DISABILITY-CATARACTS-CALCIFIED PINNAE-MYOPATHY SYNDROME

Low match VELOCARDIOFACIAL SYNDROME


VELOCARDIOFACIAL SYNDROME Is also known as chromosome 22q11.2 deletion syndrome|shprintzen vcf syndrome|vcf syndrome|vcfs

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about VELOCARDIOFACIAL SYNDROME

Low match BLOOD GROUP, I SYSTEM; II


The i and I antigens of the I blood group system are carbohydrate structures carried on glycolipids and glycoproteins and are characterized as straight or branched glycochains composed of repeating N-acetyllactosamine (LacNAc) units, respectively. Conversion of i antigen into an I-active structure requires the activity of the I-branching enzyme, beta-1,6-N-acetylglucosaminyltransferase (GCNT2 ), which adds the decisive GlcNAc-beta-1-6 branch onto the straight poly-LacNAc chains. Expression of the i and I antigens on red blood cells (RBCs) is reciprocal and developmentally regulated. Adult human RBCs predominantly express I antigen, whereas fetal and neonatal RBCs predominantly express i antigen. After birth, I antigen levels increase gradually as i antigen levels fall, with the normal Ii status of adult RBCs reached after about 13 to 20 months. Mutations that specifically affect 1 of the 3 variants produced by the GCNT2 gene cause the rare adult i phenotype, in which adult RBCs are rich in i antigen and contain low levels of I antigen. Mutations that eliminate all 3 GCNT2 variants cause the adult i phenotype with congenital cataract (CTRCT13 ) (review by Yu and Lin, 2011).

BLOOD GROUP, I SYSTEM; II Is also known as i blood group system|ii blood group system

Related symptoms:

  • Cataract
  • Congenital cataract
  • Blood group antigen abnormality


SOURCES: OMIM MENDELIAN

More info about BLOOD GROUP, I SYSTEM; II

Top 5 symptoms//phenotypes associated to Anemia and Congenital cataract

Symptoms // Phenotype % cases
Cataract Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Anemia and Congenital cataract. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Micrognathia Generalized hypotonia Short stature Abnormal facial shape Failure to thrive Hearing impairment Flexion contracture Intellectual disability, severe Cryptorchidism Hypertelorism Muscular hypotonia Hypertonia Growth delay Nystagmus Thrombocytopenia Aggressive behavior Macrotia Short neck Downslanted palpebral fissures Hydrocephalus Visual impairment High palate Anteverted nares Basal ganglia calcification Microphthalmia

Rare Symptoms - Less than 30% cases


Elevated hepatic transaminase Mental deterioration Hernia Jaundice Cleft palate Clinodactyly of the 5th finger Hemolytic anemia Wide nasal bridge Respiratory insufficiency Tremor Hyperreflexia Abnormality of cardiovascular system morphology Feeding difficulties Low-set, posteriorly rotated ears Purpura Arthritis Anal atresia Renal insufficiency Neoplasm Ptosis Retrognathia High forehead Patent ductus arteriosus Spina bifida Cerebral calcification Myelomeningocele Micropenis Cerebral cortical atrophy Long philtrum Webbed neck Hypospadias Fever Obesity Low-set ears Ataxia Depressivity Dementia Microcytic anemia Gait ataxia Broad forehead Schizophrenia Malar flattening Strabismus Scoliosis Apathy Hypocalcemia Neutropenia Behavioral abnormality Hypoplasia of the corpus callosum Abnormality of the liver Macrocephaly Hypothyroidism Intrauterine growth retardation Myopia Congenital microcephaly Megaloblastic anemia Decreased testicular size Postnatal growth retardation Hypogonadism Hypoparathyroidism High myopia Psychosis Conductive hearing impairment Thick lower lip vermilion Poor coordination Irregular vertebral endplates Developmental regression Insulin-resistant diabetes mellitus Restlessness Striae distensae Hip contracture Congenital hypothyroidism Thoracic kyphosis Sparse body hair Ankle clonus Mixed hearing impairment Truncal obesity Anonychia Short distal phalanx of finger Peripheral neuropathy Protruding ear Progressive gait ataxia Skeletal muscle atrophy Prominent nasal bridge Narrow chest Synophrys Distal amyotrophy Decreased methylmalonyl-CoA mutase activity Diffuse hepatic steatosis Abnormal glucose tolerance Cystathioninemia Narrow iliac wings Broad face Ectopic calcification Recurrent ear infections Abnormal pyramidal sign Thyroglossal cyst Bone cyst Generalized osteoporosis Tics Dystrophic fingernails Metatarsus adductus Gait disturbance Sparse scalp hair Pes cavus Clonus Babinski sign Otitis media Hip dysplasia Gynecomastia Agenesis of corpus callosum Thickened skin Osteoporosis Hypergonadotropic hypogonadism Diabetes mellitus Brachycephaly Autism Narrow mouth Bradykinesia Osteopenia Abnormal form of the vertebral bodies Areflexia Paraparesis Bilateral cryptorchidism Genu valgum Downturned corners of mouth Melanocytic nevus Abnormality of the skeletal system Self-injurious behavior Deeply set eye Myopathy Hypoplasia of the maxilla Abnormal palate morphology Knee flexion contracture Plagiocephaly Intellectual disability, mild Osteolysis Kyphosis Nevus Midface retrusion Spastic paraparesis Pectus excavatum Neurodegeneration Dysmetria Posterior polar cataract Posterior embryotoxon Pulmonary artery atresia Abnormality of the endocrine system Echolalia Truncus arteriosus Pierre-Robin sequence Delusions Meningocele Hearing abnormality Vitiligo Bipolar affective disorder Anal stenosis Seborrheic dermatitis Autoimmune thrombocytopenia Submucous cleft hard palate Axonal loss Autoimmune hemolytic anemia Abnormality of the ear Myopathic facies Inflammation of the large intestine Hypoplasia of the brainstem Acne Unilateral renal agenesis Juvenile rheumatoid arthritis Aplasia of the uterus Psoriasiform dermatitis Psychotic episodes Unilateral primary pulmonary dysgenesis Unilateral lung agenesis Sacral meningocele Right aortic arch with mirror image branching Congenital conductive hearing impairment Perineal fistula Vascular ring Central nervous system degeneration Arteria lusoria Aplasia of the thymus Conotruncal defect Graves disease Velopharyngeal insufficiency Giant platelets Retinal vascular tortuosity Paranoia Duodenal stenosis Impaired T cell function Right aortic arch Mood swings Platybasia Perimembranous ventricular septal defect Interrupted aortic arch Obsessive-compulsive behavior Rheumatoid arthritis Absent axillary hair Cerebellar atrophy Abnormality of the pinna Anxiety Umbilical hernia Hyperactivity Posteriorly rotated ears Inguinal hernia Abnormal heart morphology Absent speech Recurrent infections Immunodeficiency Atrial septal defect Autoimmunity Ventricular septal defect Delayed speech and language development Cognitive impairment Superiorly displaced ears Calcification of the auricular cartilage Increased size of the mandible Absent facial hair Posterior scalloping of vertebral bodies Torus palatinus Motor tics Basilar impression Blepharophimosis Pulmonic stenosis Dysdiadochokinesis Open mouth Cholelithiasis Nasal speech Abnormality of the hand Arnold-Chiari malformation Bicuspid aortic valve Holoprosencephaly Narrow palpebral fissure Multicystic kidney dysplasia Hallucinations Renal dysplasia Primary amenorrhea Cystathioninuria Low posterior hairline Tetralogy of Fallot Peripheral demyelination Amenorrhea Specific learning disability Renal agenesis Underdeveloped nasal alae Vesicoureteral reflux Chorea Bifid uvula Bulbous nose Hypomethioninemia Abnormality of skin pigmentation Vitamin B12 deficiency Polycystic ovaries Spasticity Pulverulent cataract Nuclear cataract Ectopic anus Abnormality of the elbow Increased serum ferritin Iron deficiency anemia Non-midline cleft lip Hypoplastic toenails Abnormality of the fingernails Ventriculomegaly Bilateral single transverse palmar creases Hypoplasia of penis Convex nasal ridge Severe global developmental delay Joint stiffness Photophobia Reduced antithrombin III activity Type I transferrin isoform profile Skin dimples Hepatomegaly Cardiomyopathy Inverted nipples Gliosis Cerebral visual impairment Decreased liver function Postnatal microcephaly Pachygyria Tetraparesis Status epilepticus Intellectual disability, profound Sloping forehead Neuronal loss in central nervous system Tetraplegia Splenomegaly Polymicrogyria Abnormality of movement Generalized tonic-clonic seizures Corneal opacity Skin rash Hypertrophic cardiomyopathy Muscular hypotonia of the trunk Hepatosplenomegaly Cerebellar hypoplasia Hypoproteinemia Infantile spasms Microretrognathia Carious teeth Hyperphosphatemia Papilledema Proportionate short stature High hypermetropia Delayed cranial suture closure High pitched voice Increased bone mineral density Small nail Infertility Hypermetropia Tetany Small for gestational age Prominent forehead Severe short stature Delayed skeletal maturation Edema Cerebral dysmyelination Adducted thumb Hypsarrhythmia Spastic tetraplegia Decreased skull ossification Delayed closure of the anterior fontanelle Finger clinodactyly Transient hypophosphatemia Progressive microcephaly Exotropia Single transverse palmar crease Poor speech Apnea Clinodactyly Cerebral atrophy Abnormality of the medullary cavity of the long bones Abnormal circulating follicle-stimulating hormone level Retinal calcification Bilateral microphthalmos Calvarial osteosclerosis Stenosis of the medullary cavity of the long bones Thin long bone diaphyses Cortical thickening of long bone diaphyses Postnatal macrocephaly Congenital hypoparathyroidism Thickened cortex of long bones Hypocalcemic tetany Hypocalcemic seizures Persistence of primary teeth Opacification of the corneal stroma Spastic tetraparesis Decreased methionine synthase activity Hepatic steatosis Broad-based gait Pulmonary arterial hypertension Pancytopenia Abnormality of extrapyramidal motor function Pigmentary retinopathy Memory impairment Aciduria Urinary incontinence Metabolic acidosis Hematuria Anorexia Nephropathy Joint hypermobility Long face Retinal degeneration Paresthesia Unsteady gait Confusion Smooth philtrum Lower limb muscle weakness Recurrent urinary tract infections Abnormality of retinal pigmentation Lethargy Hemolytic-uremic syndrome Decreased adenosylcobalamin Hyperhomocystinemia Decreased methylcobalamin Urogenital fistula Delirium Abnormality of macular pigmentation Chronic hemolytic anemia Methylmalonic acidemia Atrophy of the spinal cord Right ventricular failure Atherosclerosis Gastritis Myelopathy Homocystinuria Methylmalonic aciduria Cor pulmonale Thromboembolism Disproportionate tall stature Ectopia lentis Hemiplegia Slurred speech Malabsorption Hip dislocation Lissencephaly Pectus carinatum Polycystic kidney dysplasia Short toe Dental crowding Abnormality of the genital system Macroglossia Bruising susceptibility Talipes Neurological speech impairment Microtia Abnormality of the kidney Supernumerary nipple Intellectual disability, moderate Respiratory distress Talipes equinovarus Frontal bossing Fatigue Epicanthus Depressed nasal bridge Increased CSF protein Petechiae Radial deviation of finger Aplasia/Hypoplasia of the eyebrow Retinopathy Neurocytoma Feeding difficulties in infancy Proteinuria Difficulty walking Acidosis Reduced visual acuity Weight loss Congestive heart failure Hypertension Muscle weakness Triangular nasal tip Underdeveloped supraorbital ridges Hemoglobin H Reduced alpha/beta synthesis ratio Flat forehead Hypochromic anemia Asymmetry of the thorax Hypochromic microcytic anemia Aplasia/Hypoplasia of the earlobes Brain neoplasm Osteosarcoma Protruding tongue Blood group antigen abnormality



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