Anemia, and Iris coloboma

Diseases related with Anemia and Iris coloboma

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


Top matches:

Medium match 8P11.2 DELETION SYNDROME


8p11.2 deletion syndrome is a contiguous gene syndrome characterized by the association of congenital spherocytosis, dysmorphic features, growth delay and hypogonadotropic hypogonadism.

8P11.2 DELETION SYNDROME Is also known as del(8)(p11.2)|monosomy 8p11.2

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about 8P11.2 DELETION SYNDROME

Medium match JOUBERT SYNDROME WITH OCULORENAL DEFECT


Joubert syndrome with oculorenal defect is a rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with both renal and ocular disease.

JOUBERT SYNDROME WITH OCULORENAL DEFECT Is also known as coloboma, chorioretinal, with cerebellar vermis aplasia|arima syndrome|js-or|js type b|cerebellooculorenal syndrome|joubert syndrome with senior-loken syndrome|cors|joubert syndrome with bilateral chorioretinal coloboma|cerebrooculohepatorenal syndrome|de

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about JOUBERT SYNDROME WITH OCULORENAL DEFECT

Low match DIGEORGE SYNDROME; DGS


DiGeorge syndrome (DGS) comprises hypocalcemia arising from parathyroid hypoplasia, thymic hypoplasia, and outflow tract defects of the heart. Disturbance of cervical neural crest migration into the derivatives of the pharyngeal arches and pouches can account for the phenotype. Most cases result from a deletion of chromosome 22q11.2 (the DiGeorge syndrome chromosome region, or DGCR). Several genes are lost including the putative transcription factor TUPLE1 which is expressed in the appropriate distribution. This deletion may present with a variety of phenotypes: Shprintzen, or velocardiofacial, syndrome (VCFS ); conotruncal anomaly face (or Takao syndrome); and isolated outflow tract defects of the heart including tetralogy of Fallot, truncus arteriosus, and interrupted aortic arch. A collective acronym CATCH22 has been proposed for these differing presentations. A small number of cases of DGS have defects in other chromosomes, notably 10p13 (see {601362}). In the mouse, a transgenic Hox A3 (Hox 1.5) knockout produces a phenotype similar to DGS as do the teratogens retinoic acid and alcohol.

DIGEORGE SYNDROME; DGS Is also known as hypoplasia of thymus and parathyroids|chromosome 22q11.2 deletion syndrome|third and fourth pharyngeal pouch syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about DIGEORGE SYNDROME; DGS

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Other less relevant matches:

Low match ALG2-CDG


ALG2-CDG is a form of congenital disorders of N-linked glycosylation characterized by iris coloboma, cataract, infantile spasms, developmental delay and abnormal coagulation factors. The disease is caused by loss-of-function mutations in the gene ALG2 (9q31.1). Transmission is autosomal recessive.

ALG2-CDG Is also known as congenital disorder of glycosylation type 1i|cdg ii|cdgii|cdg syndrome type ii|mannosyltransferase 2 deficiency|carbohydrate deficient glycoprotein syndrome type ii|cdg1i|congenital disorder of glycosylation type ii|cdg-ii

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Nystagmus
  • Cataract


SOURCES: OMIM ORPHANET MENDELIAN

More info about ALG2-CDG

Low match PERSISTENT HYPERPLASTIC PRIMARY VITREOUS


Persistent hyperplastic primary vitreous (PHPV), also termed 'persistent fetal vasculature,' is a developmental malformation of the eye in which the primary vitreous fails to regress in utero, resulting in the presence of a retrolental fibrovascular membrane with persistence of the posterior portion of the tunica vasculosa lentis and hyaloid artery. This abnormality is usually unilateral and associated with microphthalmia, cataract, glaucoma, and congenital retinal nonattachment (see Haddad et al., 1978; Khaliq et al., 2001; Prasov et al., 2012).PHPV shares phenotypic overlap with Norrie disease (OMIM ). Genetic Heterogeneity of Persistent Hyperplastic Primary VitreousA dominant form of PHPV has been described (PHPVAD ).

PERSISTENT HYPERPLASTIC PRIMARY VITREOUS Is also known as rnanc|persistent fetal vasculature|persistent fetal vasculature syndrome|pfvs|congenital retinal detachment|ncrna disease|retinal nonattachment and falciform detachment|ncrna|phpv|retinal nonattachment, nonsyndromic congenital|non-syndromic congenital ret

Related symptoms:

  • Nystagmus
  • Cataract
  • Blindness
  • Microphthalmia
  • Glaucoma


SOURCES: ORPHANET OMIM MENDELIAN

More info about PERSISTENT HYPERPLASTIC PRIMARY VITREOUS

Low match BLOOD GROUP, SS; SS


Ss blood group antigens reside on the red-cell glycoprotein GYPB. The S and s antigens result from a polymorphism at amino acid 29 of GYPB, where S has met29 and s has thr29. The U antigen refers to a short extracellular sequence in GYPB located near the membrane. GYPB, glycophorin A (GYPA ), and glycophorin E (GYPE ) are closely linked on chromosome 4q31. Antigens of the MN blood group (OMIM ) reside on GYPA. The M and N antigens differ at amino acids 1 and 5 of GYPA, where M is ser-ser-thr-thr-gly, and N is leu-ser-thr-thr-glu. The N terminus of GYPB is essentially identical to that of GYPA except that it always expresses the N antigen, denoted 'N' or N-prime. Recombination and gene conversion between GYPA, GYPB, and GYPE lead to hybrid glycophorin molecules and generation of low-incidence antigens. Thus, the MN and Ss blood groups are together referred to as the MNSs blood group system (see {111300}). Recombination results in 3 glycophorin-null phenotypes: En(a-) cells lack GYPA due to recombination between GYPA and GYPB; GYPB-negative (S-s-U-) cells lack GYPB due to recombination in GYPB; and M(k) cells (M-N-S-s-U-) lack both GYPA and GYPB due to recombination between GYPA and GYPE. Individuals with glycophorin-null phenotypes have decreased sialic acid content and increased resistance to malarial infection (see {611162}). GYPA and GYPB are not essential for red-cell development or survival, and GYPA- and GYPB-null phenotypes are not associated with anemia or altered red-cell function (review by Cooling, 2015).

BLOOD GROUP, SS; SS Is also known as ss blood group

Related symptoms:

  • Neoplasm
  • Anemia


SOURCES: OMIM MENDELIAN

More info about BLOOD GROUP, SS; SS

Low match CATARACT-MICROCORNEA SYNDROME


Cataract-microcornea syndrome is characterized by the association of congenital cataract and microcornea without any other systemic anomaly or dysmorphism.

Related symptoms:

  • Nystagmus
  • Cataract
  • Myopia
  • Corneal opacity
  • Iris coloboma


SOURCES: MESH ORPHANET MENDELIAN

More info about CATARACT-MICROCORNEA SYNDROME

Low match COLOBOMA, OCULAR, AUTOSOMAL RECESSIVE


Coloboma is an ocular birth defect resulting from abnormal development of the eye during embryogenesis. It is defined as a congenital defect in any ocular tissue, typically presenting as absent tissue or a gap, at a site consistent with aberrant closure of the optic fissure. Failure of fusion can lead to coloboma of 1 or multiple regions of the inferior portion of the eye affecting any part of the globe traversed by the fissure, from the iris to the optic nerve, including the ciliary body, retina, and choroid. Coloboma is also frequently associated with small (microphthalmic) or absent (anophthalmic) eyes as part of an interrelated spectrum of developmental eye anomalies, and can affect either one or both eyes (summary by Kelberman et al., 2014).For a discussion of genetic heterogeneity of ocular coloboma, see {120200}.

Related symptoms:

  • Nystagmus
  • Cataract
  • Reduced visual acuity
  • Coloboma
  • Iris coloboma


SOURCES: OMIM MENDELIAN

More info about COLOBOMA, OCULAR, AUTOSOMAL RECESSIVE

Low match DEAFNESS, AUTOSOMAL RECESSIVE 108; DFNB108


Related symptoms:

  • Hearing impairment
  • Sensorineural hearing impairment
  • Delayed speech and language development
  • Peripheral neuropathy
  • Coloboma


SOURCES: OMIM MENDELIAN

More info about DEAFNESS, AUTOSOMAL RECESSIVE 108; DFNB108

Top 5 symptoms//phenotypes associated to Anemia and Iris coloboma

Symptoms // Phenotype % cases
Nystagmus Common - Between 50% and 80% cases
Cataract Uncommon - Between 30% and 50% cases
Coloboma Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Anemia and Iris coloboma. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Seizures Microcornea Retinal dystrophy

Rare Symptoms - Less than 30% cases


Hydrocephalus Abnormality of the hypothalamus-pituitary axis Scoliosis Strabismus Ptosis Hepatomegaly Microphthalmia Blindness Behavioral abnormality Posterior synechiae of the anterior chamber Abnormality of cardiovascular system morphology Abnormality of the kidney Esotropia Corneal opacity Delayed speech and language development Cognitive impairment Neoplasm Hearing impairment Exotropia Visual impairment Congenital blindness Blepharophimosis Hypertelorism Growth delay Microcephaly Short stature Atrial septal defect Patent ductus arteriosus Micrognathia High palate Hemolytic anemia Reduced visual acuity Juvenile rheumatoid arthritis Hypoplasia of the thymus Inflammation of the large intestine Interrupted aortic arch Autoimmune hemolytic anemia Autoimmune thrombocytopenia Graves disease Posterior embryotoxon Aplasia of the uterus Vitiligo Bipolar affective disorder Anterior segment developmental abnormality Hypoparathyroidism Meningocele Seborrheic dermatitis Truncus arteriosus Myelomeningocele Tetany Sclerocornea Amblyopia Bifid uvula Schizophrenia Renal dysplasia Primary amenorrhea Spina bifida Short palpebral fissure Hypocalcemia Purpura Bicuspid aortic valve Low posterior hairline Perimembranous ventricular septal defect Coarctation of aorta Arnold-Chiari malformation Acne Tetralogy of Fallot Amenorrhea Specific learning disability Nasal speech Cholelithiasis Rheumatoid arthritis Renal agenesis Psoriasiform dermatitis Unilateral renal agenesis Broad thumb Chorea Decreased circulating parathyroid hormone level Femoral hernia Persistent pupillary membrane Vitreoretinopathy Buphthalmos Anterior synechiae of the anterior chamber Bilateral microphthalmos Retinal fold Remnants of the hyaloid vascular system Band keratopathy Shallow anterior chamber Exudative vitreoretinopathy Leukocoria Phthisis bulbi Retinal nonattachment Uveitis Hyphema Myopia Corneal dystrophy Lens subluxation Hypertropia Sensorineural hearing impairment Peripheral neuropathy Abnormality of the ear Visual loss Retinopathy Congenital cataract Pendular nystagmus Optic nerve hypoplasia Alcoholism Right aortic arch with mirror image branching Right aortic arch Impaired T cell function Perisylvian polymicrogyria Duodenal stenosis Retinal vascular tortuosity Abnormality of the middle ear Abnormality of the thymus Vascular tortuosity Conotruncal defect Aplasia of the thymus Arteria lusoria Esophoria Retinal detachment Accommodative esotropia Sacral meningocele Polymicrogyria Parathyroid hypoplasia Parathyroid agenesis Type I truncus arteriosus Hyperreflexia Hypsarrhythmia CNS hypomyelination Abnormality of coagulation Glaucoma High, narrow palate Posteriorly rotated ears Bulbous nose Highly arched eyebrow Apnea Autistic behavior Wide mouth Abnormality of the liver Prominent nasal bridge Severe global developmental delay Stage 5 chronic kidney disease Long face Hepatic steatosis Nephropathy Renal cyst Hepatosplenomegaly Postaxial hand polydactyly Cerebellar vermis hypoplasia Encephalocele Heterotopia Pachygyria Aganglionic megacolon Hepatic fibrosis Multicystic kidney dysplasia Intellectual disability, progressive Tachypnea Aplasia/Hypoplasia of the corpus callosum Low-set, posteriorly rotated ears Dyspnea Hand polydactyly Hypogonadotrophic hypogonadism Cryptorchidism Feeding difficulties Depressed nasal bridge Epicanthus Talipes equinovarus Splenomegaly Upslanted palpebral fissure Hypogonadism Mitral valve prolapse Hypoplasia of penis Azoospermia Renal insufficiency Sacral dimple Anosmia Preauricular pit External ear malformation Spherocytosis Supernumerary ribs Generalized hypotonia Ataxia Muscular hypotonia Anteverted nares Intellectual disability, severe Polycystic kidney dysplasia Polydipsia Astigmatism Retrognathia Hypoplasia of the corpus callosum Hypertonia Immunodeficiency Recurrent infections Thrombocytopenia Obesity Abnormal heart morphology Inguinal hernia Narrow mouth Hypothyroidism Umbilical hernia Ventricular septal defect Hydronephrosis Arthritis Telecanthus Cleft lip Abnormality of the pinna Craniosynostosis Autoimmunity Attention deficit hyperactivity disorder Short philtrum Microtia Generalized tonic-clonic seizures Short neck Fever Chorioretinal coloboma Agenesis of cerebellar vermis Hypoplasia of the brainstem Polyuria Abnormality of neuronal migration Molar tooth sign on MRI Nephronophthisis Biparietal narrowing Severe vision loss Foot polydactyly Postaxial foot polydactyly Tubular atrophy Undetectable electroretinogram Congenital hepatic fibrosis Flexion contracture Dilated fourth ventricle Tubulointerstitial fibrosis Aplasia/Hypoplasia of the cerebellar vermis Renal corticomedullary cysts Multiple small medullary renal cysts Occipital meningocele Brainstem dysplasia Renal sodium wasting Abnormal facial shape Cleft palate Low-set ears Retinal atrophy



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