Congestive heart failure, and Iris coloboma

Diseases related with Congestive heart failure and Iris coloboma

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

Top matches:

Tuberous sclerosis complex (TSC) is a neurocutaneous disorder characterized by multisystem hamartomas and associated with neuropsychiatric features.

TUBEROUS SCLEROSIS COMPLEX Is also known as tuberous sclerosis|bourneville syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Neoplasm
  • Cognitive impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about TUBEROUS SCLEROSIS COMPLEX

High match TEMTAMY SYNDROME

Temtamy syndrome is a very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.

TEMTAMY SYNDROME Is also known as temtamy-shalash syndrome|craniofacial dysmorphism-coloboma-corpus callosum agenesis syndrome|mental retardation with or without craniofacial dysmorphism, ocular coloboma, or abnormal corpus callosum

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about TEMTAMY SYNDROME

Medium match JACOBSEN SYNDROME

Jacobsen syndrome is a multiple congenital anomaly/mental retardation (MCA/MR) contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11.

JACOBSEN SYNDROME Is also known as monosomy 11qter|del(11)(q23.3)|distal deletion 11q|telomeric deletion 11q|distal monosomy 11q|del(11)(qter)|chromosome 11q deletion syndrome|partial 11q monosomy syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about JACOBSEN SYNDROME

Other less relevant matches:

A condition with multiple abnormalities including mild to severe intellectual disability, impaired growth from birth leading to short stature, and microcephaly. Affected individuals may also have distinctive facial features (including a small forehead, a short nose, a small lower jaw, a flat area between the nose and mouth (philtrum), and prominent cheeks), sensorineural hearing loss, and heart malformations

WARSAW BREAKAGE SYNDROME Is also known as wabs

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about WARSAW BREAKAGE SYNDROME

The proximal 16p11.2 microdeletion syndrome is a chromosomal anomaly characterized by developmental and language delays, mild intellectual disability, social impairments (autism spectrum disorders), mild variable dysmorphism and predisposition to obesity.

PROXIMAL 16P11.2 MICRODELETION SYNDROME Is also known as proximal del(16)(p11.2)|proximal monosomy 16p11.2

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about PROXIMAL 16P11.2 MICRODELETION SYNDROME

AORTIC ANEURYSM, FAMILIAL THORACIC 4; AAT4 Is also known as faa4|aortic aneurysm/aortic dissection and patent ductus arteriosus

Related symptoms:

  • Congestive heart failure
  • Dilatation
  • Patent ductus arteriosus
  • Stroke
  • Aortic regurgitation


SOURCES: MESH OMIM MENDELIAN

More info about AORTIC ANEURYSM, FAMILIAL THORACIC 4; AAT4

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

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 one 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). Genetic Heterogeneity of Ocular ColobomaA recessive form of ocular coloboma (OMIM ) is caused by mutation in the SALL2 gene (OMIM ) on chromosome 14q11.

COLOBOMA OF IRIS Is also known as coloboma of iris, choroid, and retina|coi|coloboma, uveoretinal

Related symptoms:

  • Intellectual disability
  • Microcephaly
  • Growth delay
  • Hypertelorism
  • Nystagmus


SOURCES: ORPHANET OMIM MENDELIAN

More info about COLOBOMA OF IRIS

Congenital idiopathic hypogonadotropic hypogonadism (IHH) is a disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. Idiopathic hypogonadotropic hypogonadism can be caused by an isolated defect in gonadotropin-releasing hormone (GNRH ) release, action, or both. Other associated nonreproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss, occur with variable frequency. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism has been called 'Kallmann syndrome (KS),' whereas in the presence of a normal sense of smell, it has been termed 'normosmic idiopathic hypogonadotropic hypogonadism (nIHH)' (summary by Raivio et al., 2007). Because families have been found to segregate both KS and nIHH, the disorder is here referred to as 'hypogonadotropic hypogonadism with or without anosmia (HH).'Although HH was initially considered to be a monogenic disorder, the presence of marked locus heterogeneity, incomplete penetrance within pedigrees, and variable expressivity of pathogenic alleles, together with evidence for mutations in multiple genes in some affected individuals, resulted in a conceptual shift from monogenicity to an oligogenic framework in which a limited number of genes contribute pathogenic alleles to the genetic network responsible for the neuroendocrine control of human reproduction (Sykiotis et al., 2010). Genetic Heterogeneity of Hypogonadotropic Hypogonadism with or without AnosmiaOther forms of autosomal hypogonadotropic hypogonadism with or without anosmia include HH3 (OMIM ), caused by mutation in the PROKR2 gene (OMIM ); HH4 (OMIM ), caused by mutation in the PROK2 gene (OMIM ); HH5 (OMIM ), caused by mutation in the CHD7 gene (OMIM ); HH6 (OMIM ), caused by mutation in the FGF8 gene (OMIM ); HH7 (OMIM ), caused by mutation in the GNRHR gene (OMIM ); HH8 (OMIM ), caused by mutation in the KISS1R gene (OMIM ); HH9 (OMIM ), caused by mutation in the NELF gene (OMIM ); HH10 (OMIM ), caused by mutation in the TAC3 gene (OMIM ); HH11 (OMIM ), caused by mutation in the TACR3 gene (OMIM ); HH12 (OMIM ), caused by mutation in the GNRH1 gene (OMIM ); HH13 (OMIM ), caused by mutation in the KISS1 gene (OMIM ); HH14 (OMIM ), caused by mutation in the WDR11 gene (OMIM ); HH15 (OMIM ), caused by mutation in the HS6ST1 gene (OMIM ); HH16 (OMIM ), caused by mutation in the SEMA3A gene (OMIM ); HH17 (OMIM ), caused by mutation in the SPRY4 gene (OMIM ); HH18 (OMIM ), caused by mutation in the IL17RD gene (OMIM ); HH19 (OMIM ), caused by mutation in the DUSP6 gene (OMIM ); HH20 (OMIM ), caused by mutation in the FGF17 gene (OMIM ); HH21 (OMIM ), caused by mutation in the FLRT3 gene (OMIM ); HH22 (OMIM ), caused by mutation in the FEZF1 gene (OMIM ); HH23 (OMIM ), caused by mutation in the LHB gene (OMIM ); and HH24 (OMIM ), caused by mutation in the FSHB gene (OMIM ).There is also an X-linked form of the disorder (HH1 ), caused by mutation in the KAL1 gene (OMIM ).There is evidence that mutation in 2 or more of these genes can work in combination (oligogenicity) to produce GnRH-deficient conditions (summary by Chan, 2011). Sykiotis et al. (2010), for example, demonstrated that of patients with an identifiable coding sequence mutation in 1 of 8 genes responsible for isolated GnRH deficiency, 11% carried mutations in at least one other of these genes as well.To assess oligogenicity in hypogonadotropic hypogonadism, Miraoui et al. (2013) analyzed 350 HH probands of European descent for mutation in 17 HH-associated genes. Mutations were identified in 124 (35%) of the probands, and 24 (19%) of the mutation-positive probands carried at least 2 mutant alleles from different genes. Miraoui et al. (2013) noted that 23 of the 24 oligogenic cases involved at least 1 gene associated with the fibroblast growth factor (FGF) network (see {601513}).Dode et al. (2006) stated that loss-of-function mutations in the KAL1 (OMIM ) and FGFR1 genes account for approximately 20% of all cases of Kallmann syndrome and that mutations in the PROKR2 and PROK2 genes account for an additional 10%.Gurbuz et al. (2012) reviewed all causative mutations detected in multiplex families with normosmic hypogonadotropic hypogonadism over a 7-year period in Turkey. Mutations that segregated with disease were identified in 17 (77.2%) of 22 families studied, including mutations of the GNRHR gene in 7 (31.8%) of the families, TACR3 in 6 (27.2%), KISSR in 2 (9%), TAC3 in 1 (4.5%), and KISS1 in 1 (4.5%). Inheritance was autosomal recessive in all 17 families.Valdes-Socin et al. (2014) reviewed the reproductive, neurodevelopmental, and genetic aspects of hypogonadotropic hypogonadism in human pathology.

HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA; HH2 Is also known as kallmann syndrome 2|kal2

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Neoplasm
  • Sensorineural hearing impairment


SOURCES: OMIM MENDELIAN

More info about HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA; HH2

Sturge-Weber syndrome (SWS) is a rare congenital neurocutaneous disorder characterized by facial capillary malformations and/or cerebral and ocular ipsilateral vascular malformations that result in variable degrees of ocular and neurological anomalies.

STURGE-WEBER SYNDROME Is also known as sws|sturge-weber-dimitri syndrome|sturge-weber-krabbe angiomatosis|encephalofacial angiomatosis|sturge-weber-krabbe syndrome|encephalotrigeminal angiomatosis

Related symptoms:

  • Intellectual disability
  • Seizures
  • Strabismus
  • Hyperreflexia
  • Macrocephaly


SOURCES: ORPHANET MENDELIAN

More info about STURGE-WEBER SYNDROME

Top 5 symptoms//phenotypes associated to Congestive heart failure and Iris coloboma

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Coloboma Common - Between 50% and 80% cases
Microphthalmia Uncommon - Between 30% and 50% cases
Dilatation Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Congestive heart failure and Iris coloboma. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Global developmental delay Strabismus Microcornea Hearing impairment Hypertelorism Sensorineural hearing impairment Abnormal facial shape Ptosis Macrocephaly Ventriculomegaly Optic atrophy Agenesis of corpus callosum Behavioral abnormality Attention deficit hyperactivity disorder Growth delay Microcephaly Short toe Low-set ears Smooth philtrum Short stature Generalized hypotonia Nystagmus Micrognathia Cryptorchidism Cataract Clinodactyly Ventricular septal defect Unilateral renal agenesis Intrauterine growth retardation Chorioretinal coloboma Atrial septal defect Intellectual disability, mild Aortic aneurysm Patent ductus arteriosus Aortic regurgitation Postnatal growth retardation Short neck Optic nerve coloboma Glaucoma Renal agenesis Corneal opacity Spasticity Short nose Autism

Rare Symptoms - Less than 30% cases

Micropenis Abnormal palate morphology Hypogonadism EEG abnormality Talipes equinovarus Hypothyroidism Downslanted palpebral fissures Frontal bossing Osteopenia Myopia Brachydactyly Depressed nasal bridge Remnants of the hyaloid vascular system Renal cyst Long philtrum Aplasia/Hypoplasia of the corpus callosum Hand polydactyly Hip dislocation Blindness Cerebral calcification Retinal detachment Bilateral sensorineural hearing impairment Facial asymmetry Dolichocephaly Intellectual disability, moderate Abnormal heart morphology Telecanthus Hydronephrosis Pes planus Autistic behavior Wide mouth Clinodactyly of the 5th finger Syndactyly Esotropia Pyloric stenosis Feeding difficulties Recurrent infections Hypertension Respiratory insufficiency Cleft palate Muscular hypotonia Motor delay Epicanthus Single transverse palmar crease Coarctation of aorta Wide nasal bridge Cognitive impairment Anteverted nares Neoplasm Hydrocephalus Immunodeficiency Stroke Vesicoureteral reflux Scoliosis Missing ribs Abnormality of cardiovascular system morphology Inguinal hernia Talipes Hernia Multiple renal cysts Holoprosencephaly Neurological speech impairment Congenital diaphragmatic hernia Small hand Narrow palpebral fissure Hemivertebrae Flat face Microretrognathia Psychosis Tapered finger Underdeveloped nasal alae Mitral stenosis Bilateral ptosis Anophthalmia Language impairment Aplasia/Hypoplasia of the earlobes Broad hallux phalanx Nuclear cataract Pointed chin High palate Labial hypoplasia Premature chromatid separation Congenital thrombocytopenia Posteriorly rotated ears Obesity Midface retrusion Megakaryocyte dysplasia Malar flattening Delayed speech and language development Hypoplasia of the cochlea Small face Polydactyly Abnormality of the curvature of the vertebral column Chromosome breakage 2-3 toe syndactyly Cutis marmorata Cupped ear Sloping forehead Tetralogy of Fallot Abnormality of skin pigmentation Hyperactivity Bilateral camptodactyly Broad forehead Macrotia Blepharophimosis Abnormal thrombocyte morphology Broad columella Nasolacrimal duct obstruction Abnormality of the head Deeply set eye Long hallux Urethral stenosis U-Shaped upper lip vermilion Arteria lusoria Gastroesophageal reflux Central hypothyroidism Clitoral hypoplasia Macular hypoplasia Giant platelets Toe clinodactyly Abnormality of the anus Annular pancreas Internal hemorrhage Abnormality of the pinna Aortic stiffness Combined immunodeficiency Hypogonadotrophic hypogonadism Prostate cancer Gonadotropin deficiency Hyposmia Thromboembolism Ectrodactyly Hypopituitarism Reduced number of teeth Anosmia Gynecomastia Bimanual synkinesia Choanal atresia Primary amenorrhea Myocardial infarction Hypotelorism Amenorrhea Oral cleft Cleft upper lip Delayed puberty Microphallus Hyperreflexia Abnormality of the nervous system Pulmonary embolism Conjunctival telangiectasia Visceral angiomatosis Hemianopia Abnormality of the retinal vasculature Abnormality of the cerebral vasculature Heterochromia iridis Capillary hemangioma Hearing abnormality Hyperostosis Dysphagia Abnormality of vision Arnold-Chiari malformation Corneal dystrophy Venous thrombosis Gingival overgrowth Abnormality of eye movement Abnormality of the eye Cerebral cortical atrophy Cleft lip Optic nerve aplasia Long nose Bicuspid aortic valve Abnormal iris pigmentation Cystic medial necrosis Ascending aortic dissection Thoracic aortic aneurysm Left ventricular failure Aortic dissection Abnormality of the vasculature Coronary artery atherosclerosis Absent nasal bridge Optic nerve hypoplasia Widely-spaced maxillary central incisors Chorioretinitis Pulmonary artery atresia Hydrocele testis Severe intrauterine growth retardation Arnold-Chiari type I malformation Severe combined immunodeficiency Syringomyelia Duodenal atresia Congenital blindness Morning glory anomaly Phthisis bulbi Peters anomaly Increased intraocular pressure Aganglionic megacolon Reduced visual acuity Hyphema Retinal nonattachment Persistent pupillary membrane Posterior synechiae of the anterior chamber Leukocoria Uveitis Exudative vitreoretinopathy Shallow anterior chamber Band keratopathy Retinal fold Bilateral microphthalmos Anterior synechiae of the anterior chamber Buphthalmos Vitreoretinopathy Pendular nystagmus Ectopic anus Postural instability Eyelid coloboma Dental enamel pits Subependymal giant-cell astrocytoma Rhabdomyoma Subungual fibromas Achromatic retinal patches Pulmonary lymphangiomyomatosis Confetti-like hypopigmented macules Ungual fibroma Hypomelanotic macule Abnormality of the skeletal system Cardiac rhabdomyoma Subependymal nodules Cortical tubers Chordoma Retinal hamartoma Angiofibromas Renal angiomyolipoma Visual impairment Hypoplasia of the corpus callosum Macrodactyly Progressive visual loss Bowing of the legs Relative macrocephaly Genu varum Short chin Dental crowding Thick lower lip vermilion Intellectual disability, profound Convex nasal ridge Intellectual disability, severe Prominent nose Highly arched eyebrow Long face Joint hyperflexibility Mental deterioration Coarse facial features Gait ataxia Absent speech Optic nerve glioma Shagreen patch Neurogenic bladder Bradycardia Prominent occiput Emphysema Abnormality of neuronal migration Precocious puberty Atrioventricular block Increased intracranial pressure Hypopigmented skin patches Cafe-au-lait spot Macule Subcutaneous nodule Generalized-onset seizure Specific learning disability Papule Abnormality of the liver Anxiety Arrhythmia Renal insufficiency Cortical dysplasia Infantile spasms Ependymoma Astrocytoma Third degree atrioventricular block Adenoma sebaceum Chylothorax Abnormality of the pleura Rhabdomyosarcoma Pneumothorax Gingival fibromatosis Abnormality of the pancreas Multiple cafe-au-lait spots Wolff-Parkinson-White syndrome Abnormality of the respiratory system Skin tags Gingivitis Neoplasm of the pancreas Nevus flammeus Renal cell carcinoma Hamartoma Congenital nystagmus Hypoplasia of teeth Chronic constipation Sinusitis Azoospermia Multicystic kidney dysplasia Horseshoe kidney Bone marrow hypocellularity Spina bifida Aortic valve stenosis Leukodystrophy Short thumb Infantile muscular hypotonia Amblyopia Pachygyria Abnormal form of the vertebral bodies Pancytopenia Eczema Dehydration Microdontia Tachypnea Schizophrenia Growth hormone deficiency Natal tooth Retinal dysplasia Diastasis recti Double outlet right ventricle Abnormal eyelash morphology Bipolar affective disorder Wheezing Transposition of the great arteries Slender finger Trigonocephaly Partial agenesis of the corpus callosum Atrioventricular canal defect Hypoplastic left heart Aplasia/Hypoplasia of the eyebrow Flat occiput Hammertoe Heart murmur Ectropion Otitis media Webbed neck Profound global developmental delay Abnormality of the dentition Prominent forehead Recurrent respiratory infections Constipation Pectus excavatum Hypospadias Thrombocytopenia Cerebral atrophy Flexion contracture High forehead Failure to thrive Posterior staphyloma Short 2nd toe Scleral staphyloma Lop ear Lens luxation Short upper lip Colpocephaly Osteoporosis Retrognathia Decreased antibody level in blood Small for gestational age Intestinal malrotation Premature birth Bruising susceptibility Tachycardia Anal atresia Narrow chest Toe syndactyly Leukemia Thin upper lip vermilion Finger syndactyly Skin rash Abnormal cardiac septum morphology Craniosynostosis Feeding difficulties in infancy Camptodactyly Low-set, posteriorly rotated ears Hypoglycemia Abnormal choroid morphology


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