Anemia, and Coloboma

Diseases related with Anemia and Coloboma

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


Top matches:

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 SRD5A3-CDG


SRD5A3-CDG is a rare, non X-linked congenital disorder of glycosylation due to steroid 5 alpha reductase type 3 deficiency characterized by a highly variable phenotype typically presenting with severe visual impairment, variable ocular anomalies (such as optic nerve hypoplasia/atrophy, iris and optic nerve coloboma, congenital cataract, glaucoma), intellectual disability, cerebellar abnormalities, nystagmus, hypotonia, ataxia, and/or ichthyosiform skin lesions. Other reported manifestations include retinitis pigmentosa, kyphosis, congenital heart defects, hypertrichosis and abnormal coagulation.

SRD5A3-CDG Is also known as cdg1q|coloboma, ocular, with ichthyosis, brain malformations, and endocrine abnormalities|congenital disorder of glycosylation type iq|cdg-iq|congenital disorder of glycosylation type 1q|cdg syndrome type iq|cdg iq|cdgiq

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about SRD5A3-CDG

Low 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

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

Low 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 DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3; DUH3


Dyschromatosis universalis hereditaria (DUH) is a rare autosomal dominant genodermatosis characterized by irregularly shaped asymptomatic hyper- and hypopigmented macules that appear in infancy or early childhood and occur in a generalized distribution over the trunk, limbs, and sometimes the face. Involvement of the palms or soles is unusual. Abnormalities of hair and nails have been reported, and DUH may be associated with abnormalities of dermal connective tissue, nerve tissue, or other systemic complications (summary by Zhang et al., 2013).For a discussion of genetic heterogeneity of DUH, see DUH1 (OMIM ).

Related symptoms:

  • Neoplasm
  • Pain
  • Coloboma
  • Pruritus
  • Hypopigmentation of the skin


SOURCES: OMIM MENDELIAN

More info about DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3; DUH3

Low match DIAMOND-BLACKFAN ANEMIA 17; DBA17


Related symptoms:

  • Anemia
  • Hyperpigmentation of the skin


SOURCES: OMIM MENDELIAN

More info about DIAMOND-BLACKFAN ANEMIA 17; DBA17

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

Low match KABUKI SYNDROME 1; KABUK1


Kabuki syndrome is a congenital mental retardation syndrome with additional features, including postnatal dwarfism, a peculiar facies characterized by long palpebral fissures with eversion of the lateral third of the lower eyelids (reminiscent of the make-up of actors of Kabuki, a Japanese traditional theatrical form), a broad and depressed nasal tip, large prominent earlobes, a cleft or high-arched palate, scoliosis, short fifth finger, persistence of fingerpads, radiographic abnormalities of the vertebrae, hands, and hip joints, and recurrent otitis media in infancy (Niikawa et al., 1981). Genetic HeterogeneityKabuki syndrome-2 (OMIM ) is caused by mutation in the KDM6A gene (OMIM ) on chromosome Xp11.3.

KABUKI SYNDROME 1; KABUK1 Is also known as kabuki syndrome|kabuki make-up syndrome|kms|niikawa-kuroki syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about KABUKI SYNDROME 1; KABUK1

Low match CORNELIA DE LANGE SYNDROME 1; CDLS1


The Cornelia de Lange syndrome (CDLS) is a multisystem malformation syndrome recognized primarily on the basis of characteristic facial dysmorphism, including low anterior hairline, arched eyebrows, synophrys, anteverted nares, maxillary prognathism, long philtrum, thin lips, and 'carp' mouth, in association with prenatal and postnatal growth retardation, mental retardation and, in many cases, upper limb anomalies. However, there is wide clinical variability in this disorder, with milder phenotypes that may be difficult to ascertain on the basis of physical features (summary by Rohatgi et al., 2010).Boyle et al. (2015) provided a detailed review of CDLS, including clinical features, diagnosis, and genetic counseling. Genetic Heterogeneity of Cornelia de Lange SyndromeAbout 50 to 60% of the cases of CDLS are due to mutation in the NIPBL gene (Musio et al., 2006; Rohatgi et al., 2010).One X-linked form of CDLS (CDLS2 ) is caused by mutation in the SMC1A gene (OMIM ), which accounts for about 5% of cases. Two milder variants of Cornelia de Lange syndrome have been identified: CDLS3 (OMIM ), caused by mutation in the SMC3 gene (OMIM ), and CDLS4 (OMIM ), caused by mutation in the RAD21 gene (OMIM ). All 4 genes, NIPBL, SMC1A, SMC3, and RAD21, encode components of the cohesin complex. Another X-linked form, CDLS5 (OMIM ), is caused by mutation in the HDAC8 gene (OMIM ), the vertebrate histone deacetylase of SMC3.

CORNELIA DE LANGE SYNDROME 1; CDLS1 Is also known as typus degenerativus amstelodamensis|brachmann-de lange syndrome|cdl|de lange syndrome|cdls|bdls

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CORNELIA DE LANGE SYNDROME 1; CDLS1

Top 5 symptoms//phenotypes associated to Anemia and Coloboma

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Neoplasm Uncommon - Between 30% and 50% cases
Micrognathia Uncommon - Between 30% and 50% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Growth delay Microcephaly Short stature Scoliosis Strabismus Ptosis Atrial septal defect High palate Abnormal heart morphology Generalized hypotonia Hypertelorism Hearing impairment Nystagmus Abnormal facial shape Feeding difficulties Polymicrogyria Cryptorchidism Behavioral abnormality Ventricular septal defect Abnormality of the pinna Hydrocephalus Astigmatism Abnormality of the kidney Cleft palate Depressed nasal bridge Iris coloboma Hemolytic anemia Highly arched eyebrow Low-set ears Patent ductus arteriosus

Rare Symptoms - Less than 30% cases


Hypothyroidism Craniosynostosis Narrow mouth Retrognathia Hydronephrosis Telecanthus Recurrent infections Posteriorly rotated ears Inguinal hernia Obesity Thrombocytopenia Microphthalmia Immunodeficiency Hypertonia Short neck Fever Delayed speech and language development Otitis media Heterotopia Autoimmunity Optic nerve coloboma High, narrow palate Hypospadias Congenital diaphragmatic hernia Blue sclerae Long eyelashes Single transverse palmar crease Hirsutism Increased body weight Respiratory tract infection Postnatal growth retardation Abnormality of the urinary system Hypoglycemia Severe short stature Pneumonia Clinodactyly Hernia Coarctation of aorta Abnormality of the dentition Abnormality of the skeletal system Myopia Wide nasal bridge Failure to thrive Abnormality of the middle ear Perimembranous ventricular septal defect Vitiligo Autoimmune thrombocytopenia Autoimmune hemolytic anemia Purpura Renal dysplasia Low posterior hairline Renal cyst Microdontia Hypertrichosis Retinal dystrophy Cerebellar vermis hypoplasia Abnormality of cardiovascular system morphology Preauricular pit Epicanthus Abnormality of the hypothalamus-pituitary axis Supernumerary ribs Talipes equinovarus Muscular hypotonia Microcornea Renal insufficiency Autistic behavior Brachycephaly Visual loss Blepharophimosis Intellectual disability, severe Anteverted nares Prominent nasal bridge Short columella Cholangitis Broad philtrum Small face Retinal coloboma Patellar dislocation Mitral stenosis Short 5th finger Peters anomaly Depressed nasal tip Cutis marmorata Ureteropelvic junction obstruction Trichorrhexis nodosa Panhypopituitarism Premature thelarche Prominent eyelashes Liver abscess Sclerosing cholangitis Recurrent hypoglycemia Volvulus Single ventricle Crossed fused renal ectopia Anorectal anomaly Anterior plagiocephaly Common atrium Vertebral clefting Epibulbar dermoid Recurrent aspiration pneumonia Prominent fingertip pads Biliary atresia Bronchomalacia Diaphragmatic eventration Recurrent ear infections Scaphocephaly Anal stenosis Overweight Horseshoe kidney Brittle hair Left-to-right shunt Failure to thrive in infancy Poor suck Projectile vomiting Abnormal dermatoglyphics Duplication of internal organs Malrotation of colon Hyperbilirubinemia Congenital hip dislocation Cupped ear Otitis media with effusion Sparse and thin eyebrow Abnormal vertebral morphology Cafe-au-lait spot Reduced renal corticomedullary differentiation Recurrent otitis media Small nail Abnormality of the umbilicus Hypoplastic radial head Precocious puberty Bilateral cryptorchidism Short sternum Phocomelia Hashimoto thyroiditis Short nasal septum IgA deficiency Thyroiditis Congenital hypothyroidism Cerebellar vermis atrophy Transposition of the great arteries Hand oligodactyly Severe hearing impairment Gastroparesis Hypertropia Absent hand Long palpebral fissure Curly eyelashes Celiac disease Right bundle branch block Bundle branch block Hypoplastic male external genitalia Hydroureter Esophageal stenosis Eversion of lateral third of lower eyelids Hypertension Pilonidal sinus Thick eyebrow Sepsis Triangular face Delayed eruption of teeth Sleep disturbance Tapered finger Small hand Downturned corners of mouth Pulmonary hypoplasia Thin vermilion border Webbed neck Cleft upper lip Vertigo Micromelia Toe syndactyly Pulmonic stenosis Synophrys Hip dislocation Small for gestational age Vesicoureteral reflux High myopia Camptodactyly Incoordination Clubbing Proximal placement of thumb Self-injurious behavior Short middle phalanx of finger Pyloric stenosis Short metatarsal 2-3 toe syndactyly Deep philtrum Hypoplasia of the radius Renal hypoplasia Relative macrocephaly Widely spaced teeth Torticollis Spontaneous abortion Elbow flexion contracture Low anterior hairline Aspiration Recurrent urinary tract infections Choanal atresia Pallor Hypertrophic cardiomyopathy Vertical orbital dystopia Thick upper lip vermilion Prominent forehead Abnormality of the gastrointestinal tract Clinodactyly of the 5th finger Delayed skeletal maturation Headache Syndactyly Long philtrum Vomiting Cardiomyopathy Hyperhidrosis Optic atrophy Macrocephaly Intrauterine growth retardation Tricuspid regurgitation Sensorineural hearing impairment Congenital mitral stenosis Anoperineal fistula Nocturnal lagophthalmos Hypoplastic labia majora Hyperactivity Aggressive behavior Hypoplastic nipples Proteinuria Ectopic kidney Opisthotonus Limited elbow extension Abnormality of digit Thin upper lip vermilion Weak cry Dislocated radial head Oligodactyly Glaucoma Ectrodactyly Gastroesophageal reflux Poor appetite Mandibular prognathia Proptosis Hiatus hernia Aspiration pneumonia Esophagitis Autism Conductive hearing impairment Right aortic arch with mirror image branching Growth hormone deficiency Hand polydactyly Biparietal narrowing Nephronophthisis Molar tooth sign on MRI Abnormality of neuronal migration Polyuria Hypoplasia of the brainstem Chorioretinal coloboma Polydipsia Polycystic kidney dysplasia Severe vision loss Aplasia/Hypoplasia of the corpus callosum Tachypnea Intellectual disability, progressive Multicystic kidney dysplasia Hepatic fibrosis Aganglionic megacolon Pachygyria Encephalocele Congenital blindness Foot polydactyly Nephropathy Brainstem dysplasia Flexion contracture Cognitive impairment Hyperpigmentation of the skin Neoplasm of the skin Hypopigmentation of the skin Pruritus Pain Renal sodium wasting Occipital meningocele Postaxial foot polydactyly Multiple small medullary renal cysts Renal corticomedullary cysts Aplasia/Hypoplasia of the cerebellar vermis Tubulointerstitial fibrosis Dilated fourth ventricle Congenital hepatic fibrosis Agenesis of cerebellar vermis Undetectable electroretinogram Tubular atrophy Postaxial hand polydactyly Hepatic steatosis Umbilical hernia Cutis laxa Reduced antithrombin III activity Anterior pituitary hypoplasia Type I transferrin isoform profile Microcytic anemia Abnormality of coagulation Erythroderma Optic nerve hypoplasia Oligodontia Inflammatory abnormality of the skin Upslanted palpebral fissure Eczema Palmoplantar keratoderma Abnormality of skin pigmentation Ichthyosis Elevated hepatic transaminase Hyperkeratosis Cerebellar atrophy Motor delay Splenomegaly Hypogonadism Long face Blindness Stage 5 chronic kidney disease Severe global developmental delay Abnormality of the liver Wide mouth Apnea Low-set, posteriorly rotated ears Hepatosplenomegaly Dyspnea Hepatomegaly Mitral valve prolapse Visual impairment Ataxia Spherocytosis External ear malformation Anosmia Sacral dimple Azoospermia Hypogonadotrophic hypogonadism Hypoplasia of penis Hypoplasia of the corpus callosum Arthritis Decreased antibody level in blood Esophoria Diarrhea Brachydactyly Type I truncus arteriosus Parathyroid agenesis Parathyroid hypoplasia Decreased circulating parathyroid hormone level Sacral meningocele Accommodative esotropia Arteria lusoria Kyphosis Aplasia of the thymus Conotruncal defect Vascular tortuosity Abnormality of the thymus Retinal vascular tortuosity Duodenal stenosis Perisylvian polymicrogyria Impaired T cell function Intellectual disability, mild Dilatation Alcoholism Abnormal cardiac septum morphology Dental malocclusion Prominent nose Intestinal malrotation Hypodontia Wide nose Joint hypermobility Anal atresia Malabsorption Paralysis Depressivity Protruding ear Feeding difficulties in infancy Intellectual disability, moderate Joint laxity Anxiety Jaundice Pes planus Macrotia Micropenis Right aortic arch Femoral hernia Cleft lip Tetralogy of Fallot Bicuspid aortic valve Hypocalcemia Spina bifida Exotropia Amblyopia Broad thumb Primary amenorrhea Short palpebral fissure Amenorrhea Arnold-Chiari malformation Specific learning disability Renal agenesis Chorea Bifid uvula Bulbous nose Generalized tonic-clonic seizures Microtia Short philtrum Attention deficit hyperactivity disorder Schizophrenia Nasal speech Interrupted aortic arch Truncus arteriosus Graves disease Aplasia of the uterus Hypoplasia of the thymus Anterior segment developmental abnormality Seborrheic dermatitis Juvenile rheumatoid arthritis Tetany Myelomeningocele Sclerocornea Cholelithiasis Meningocele Hypoparathyroidism Bipolar affective disorder Posterior embryotoxon Inflammation of the large intestine Acne Unilateral renal agenesis Psoriasiform dermatitis Rheumatoid arthritis Dysplastic tricuspid valve



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Arthritis and Syndactyly, related diseases and genetic alterations Downslanted palpebral fissures and Polymicrogyria, related diseases and genetic alterations Melanoma and Photophobia, related diseases and genetic alterations Neuroblastoma and Renal dysplasia, related diseases and genetic alterations Nystagmus and Hypopigmentation of the skin, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more