Cryptorchidism, and Iris coloboma

Diseases related with Cryptorchidism and Iris coloboma

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


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High match HYPOSMIA-NASAL AND OCULAR HYPOPLASIA-HYPOGONADOTROPIC HYPOGONADISM SYNDROME


This syndrome is characterized by the association of severe nasal hypoplasia, hypoplasia of the eyes, hyposmia, hypogeusia and hypogonadotropic hypogonadism.

HYPOSMIA-NASAL AND OCULAR HYPOPLASIA-HYPOGONADOTROPIC HYPOGONADISM SYNDROME Is also known as bosma arhinia-microphthalmia syndrome|bosma-henkin-christiansen syndrome

Related symptoms:

  • Cleft palate
  • Cataract
  • Cryptorchidism
  • Blindness
  • Microphthalmia


SOURCES: ORPHANET MENDELIAN

More info about HYPOSMIA-NASAL AND OCULAR HYPOPLASIA-HYPOGONADOTROPIC HYPOGONADISM SYNDROME

High match EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 3; IECEE3


IECEE3 is an autosomal dominant neurologic disorder characterized by delayed psychomotor development, early-onset refractory seizures, and intellectual disability. The severity of the phenotype is highly variable: some patients may be nonverbal and nonambulatory with spastic quadriparesis and poor eye contact, whereas others have moderate intellectual disability (summary by Fassio et al., 2018).For a discussion of genetic heterogeneity of IECEE, see IECEE1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 3; IECEE3

High match LAURENCE-MOON SYNDROME


Laurence-Moon syndrome (LMS) is a very rare genetic multisystemic disorder characterized by pituitary dysfunction, ataxia, peripheral neuropathy, spastic paraplegia, and chorioretinal dystrophy.

Related symptoms:

  • Intellectual disability
  • Short stature
  • Ataxia
  • Nystagmus
  • Strabismus


SOURCES: ORPHANET MENDELIAN

More info about LAURENCE-MOON SYNDROME

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High match GORLIN SYNDROME


Gorlin syndrome (GS) is a genodermatosis characterized by multiple early-onset basal cell carcinoma (BCC), odontogenic keratocysts and skeletal abnormalities.

GORLIN SYNDROME Is also known as nbccs|basal cell nevus syndrome|nevoid basal cell carcinoma syndrome|gorlin-goltz syndrome

Related symptoms:

  • Intellectual disability
  • Scoliosis
  • Hypertelorism
  • Neoplasm
  • Strabismus


SOURCES: ORPHANET MENDELIAN

More info about GORLIN SYNDROME

High match HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA; HH2


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

High match BRESEK SYNDROME


X-linked mental retardation, Reish type is characterised by Brain anomalies, severe mental Retardation, Ectodermal dysplasia, Skeletal deformities (vertebral anomalies, scoliosis, polydactyly), Ear/eye anomalies (maldevelopment, small optic nerves, low set and large ears with hearing loss) and Kidney dysplasia/hypoplasia (giving the acronym BRESEK syndrome).

BRESEK SYNDROME Is also known as bresheck syndrome

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Scoliosis
  • Growth delay


SOURCES: MESH ORPHANET MENDELIAN

More info about BRESEK SYNDROME

High match ABRUZZO-ERICKSON SYNDROME


Abruzzo-Erickson syndrome is a multiple congenital anomalies syndrome characterized by a cleft palate, ocular coloboma, hypospadias, mixed conductive-sensorineural hearing loss, short stature, and radio-ulnar synostosis.

ABRUZZO-ERICKSON SYNDROME Is also known as cleft palate-coloboma-deafness syndrome|charge-like syndrome|charge-like syndrome, x-linked

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Sensorineural hearing impairment
  • Cleft palate


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about ABRUZZO-ERICKSON SYNDROME

High match TETRAAMELIA-MULTIPLE MALFORMATIONS SYNDROME


Tetraamelia - multiple malformations is an extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.

TETRAAMELIA-MULTIPLE MALFORMATIONS SYNDROME Is also known as zimmer phocomelia

Related symptoms:

  • Micrognathia
  • Cataract
  • Cryptorchidism
  • Optic atrophy
  • Hydrocephalus


SOURCES: ORPHANET MENDELIAN

More info about TETRAAMELIA-MULTIPLE MALFORMATIONS SYNDROME

High match ARRHINIA-CHOANAL ATRESIA-MICROPHTHALMIA SYNDROME


Arhinia-choanal atresia-microphthalmia is a malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate.

ARRHINIA-CHOANAL ATRESIA-MICROPHTHALMIA SYNDROME Is also known as arhinia, choanal atresia, microphthalmia, and hypogonadotropic hypogonadism

Related symptoms:

  • Hearing impairment
  • Hypertelorism
  • Cleft palate
  • Cataract
  • Cryptorchidism


SOURCES: ORPHANET OMIM MENDELIAN

More info about ARRHINIA-CHOANAL ATRESIA-MICROPHTHALMIA SYNDROME

High match TREACHER COLLINS SYNDROME 1; TCS1


Treacher Collins syndrome is a disorder of craniofacial development. The features include antimongoloid slant of the eyes, coloboma of the lid, micrognathia, microtia and other deformity of the ears, hypoplastic zygomatic arches, and macrostomia. Conductive hearing loss and cleft palate are often present (Dixon, 1996). Genetic Heterogeneity of Treacher Collins SyndromeTreacher Collins syndrome-2 (TCS2 ) is caused by mutation in the POLR1D gene (OMIM ) on chromosome 13q12. Treacher Collins syndrome-3 (TCS3 ) is caused by mutation in the POLR1C gene (OMIM ) on chromosome 6p21.

TREACHER COLLINS SYNDROME 1; TCS1 Is also known as mfd1|tcs|treacher collins syndrome|tcof|mandibulofacial dysostosis|treacher collins-franceschetti syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about TREACHER COLLINS SYNDROME 1; TCS1

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

Symptoms // Phenotype % cases
Cleft palate Common - Between 50% and 80% cases
Cataract Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Microphthalmia Uncommon - Between 30% and 50% cases
Coloboma Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Hearing impairment Choanal atresia Short stature Strabismus Sensorineural hearing impairment Epicanthus Brachydactyly Abnormality of cardiovascular system morphology Hypertelorism Hydrocephalus Hypogonadotrophic hypogonadism Microcephaly Global developmental delay Hypogonadism Protruding ear Hyposmia Reduced number of teeth Anosmia

Rare Symptoms - Less than 30% cases


Primary amenorrhea Neoplasm Microcornea Low-set ears Micrognathia Brachycephaly Agenesis of permanent teeth Encephalocele Scoliosis Malar flattening Microtia Narrow mouth Vesicoureteral reflux Hemivertebrae Visual impairment Abnormality of the sense of smell Aplasia/Hypoplasia involving the nose Agenesis of corpus callosum Conductive hearing impairment Micropenis Lacrimal duct stenosis Cleft lip Delayed puberty Oral cleft Hypospadias Dental malocclusion Abnormality of the dentition Hypoplasia of penis Optic atrophy Anophthalmia Gynecomastia Inguinal hernia Visual loss Abnormal lung lobation Lower eyelid coloboma Abnormality of the ribs Upper eyelid coloboma Mandibulofacial dysostosis Multicystic kidney dysplasia Aplasia/Hypoplasia of the lungs Sparse lower eyelashes Missing ribs Hypoplasia of the pharynx Tracheal stenosis Accessory spleen Bilateral microphthalmos Abnormality of the larynx Anotia Anal atresia Polyhydramnios Toe syndactyly Radioulnar synostosis Facial asymmetry Flat face Projection of scalp hair onto lateral cheek Short toe Abnormal palate morphology Macrotia Chorioretinal coloboma Ectopic adrenal gland Ulnar deviation of finger Widely spaced primary teeth Abnormal localization of kidney Dimple chin Coronal hypospadias Vaginal atresia Cleft soft palate Frontal encephalocele Aplasia/Hypoplasia of the nipples Respiratory distress Wide mouth Apnea Atrial septal defect Abnormal heart morphology Scrotal hypoplasia Limb-girdle muscular dystrophy Preauricular pit Hypoplastic labia majora Broad nasal tip Lacrimation abnormality Respiratory insufficiency Hypoplasia of teeth Downslanted palpebral fissures Diastema Feeding difficulties Ptosis Absent paranasal sinuses Preauricular skin tag Hypoplasia of the maxilla Aplasia of the nose High palate Choanal stenosis Abnormally ossified vertebrae Obstructive sleep apnea Septo-optic dysplasia Glossoptosis Tetraamelia Aplasia/Hypoplasia involving the pelvis Atresia of the external auditory canal Sparse eyelashes Sleep apnea Abnormality of the outer ear Edema Midface retrusion Hernia Corneal opacity Muscular dystrophy Synophrys Abnormality of the nose Gonadotropin deficiency Hypoplasia of the bladder Ataxia Febrile seizures Epileptic encephalopathy Hypsarrhythmia Tetraparesis Spastic tetraparesis CNS hypomyelination Poor eye contact Delayed ability to walk Nystagmus Hypermetropia Renal insufficiency Obesity Low-set, posteriorly rotated ears Finger syndactyly Type II diabetes mellitus Bilateral single transverse palmar creases Hand polydactyly Congenital hepatic fibrosis Displacement of the external urethral meatus Inability to walk Encephalopathy Wide nasal bridge Single naris Blindness Bifid uvula Amblyopia External genital hypoplasia Submucous cleft hard palate Misalignment of teeth Abdominal wall muscle weakness Failure of eruption of permanent teeth Absent nares Absent speech Abnormality of the midface Hypoplasia of the olfactory bulb Seizures Generalized hypotonia Abnormal facial shape Hyperreflexia Hypoplasia of the corpus callosum Cerebellar atrophy Cerebral atrophy Abnormality of the antitragus Frontal bossing Abnormality of brain morphology Alopecia Ectrodactyly Thromboembolism Prostate cancer Microphallus Bimanual synkinesia Growth delay Intrauterine growth retardation Intellectual disability, severe Hypotrichosis Unilateral renal agenesis Ichthyosis Convex nasal ridge Decreased testicular size Postaxial hand polydactyly Renal hypoplasia Aganglionic megacolon Renal dysplasia Plagiocephaly Optic nerve hypoplasia Hypopituitarism Holoprosencephaly Glaucoma Vertebral wedging Mandibular prognathia Telecanthus Carious teeth Arachnodactyly Cerebral calcification Melanocytic nevus Vertebral fusion Abnormality of the neck Palmar pits Myocardial infarction Plantar pits Clinodactyly Osteopenia Abnormality of the nervous system Cleft upper lip Renal agenesis Amenorrhea Hypotelorism Coarctation of aorta Abnormal parotid gland morphology



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