Cryptorchidism, and Renal cyst

Diseases related with Cryptorchidism and Renal cyst

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


Top matches:

High match BARDET-BIEDL SYNDROME 4; BBS4


BBS4 is a rare multisystemic disorder characterized primarily by retinal dystrophy, obesity, polydactyly, and renal dysfunction that accounts for less than 3% of BBS (Katsanis et al., 2002). Anosmia has been described in patients with BBS4 (Iannaccone et al., 2005), as well as polydactyly confined to the hands (Carmi et al., 1995).For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Cryptorchidism
  • Cognitive impairment
  • Brachydactyly
  • Blindness


SOURCES: OMIM MENDELIAN

More info about BARDET-BIEDL SYNDROME 4; BBS4

Medium match MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME


Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is a rare congenital disease characterized by massive abdominal distension caused by a largely dilated non-obstructed urinary bladder (megacystis), microcolon and decreased or absent intestinal peristalsis.

MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME Is also known as mmihs|megacystis-microcolon-intestinal hypoperistalsis-hydronephrosis syndrome|berdon syndrome

Related symptoms:

  • Cryptorchidism
  • Abnormality of cardiovascular system morphology
  • Polyhydramnios
  • Umbilical hernia
  • Nausea and vomiting


SOURCES: ORPHANET MENDELIAN

More info about MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME

Medium match FANCONI ANEMIA, COMPLEMENTATION GROUP O; FANCO


Fanconi anemia (FA) is a clinically and genetically heterogeneous disorder that causes genomic instability. Characteristic clinical features include developmental abnormalities in major organ systems, early-onset bone marrow failure, and a high predisposition to cancer. The cellular hallmark of FA is hypersensitivity to DNA crosslinking agents and high frequency of chromosomal aberrations pointing to a defect in DNA repair (summary by Deakyne and Mazin, 2011).For additional general information and a discussion of genetic heterogeneity of Fanconi anemia, see {227650}.

Related symptoms:

  • Short stature
  • Neoplasm
  • Cryptorchidism
  • Anemia
  • Renal insufficiency


SOURCES: OMIM MENDELIAN

More info about FANCONI ANEMIA, COMPLEMENTATION GROUP O; FANCO

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Other less relevant matches:

Medium match PORENCEPHALY-MICROCEPHALY-BILATERAL CONGENITAL CATARACT SYNDROME


Porencephaly-microcephaly-bilateral congenital cataract syndrome is a rare, genetic, central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported.

Related symptoms:

  • Seizures
  • Global developmental delay
  • Cataract
  • Cryptorchidism
  • Spasticity


SOURCES: OMIM ORPHANET MENDELIAN

More info about PORENCEPHALY-MICROCEPHALY-BILATERAL CONGENITAL CATARACT SYNDROME

Medium match MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13; MDDGA13


Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A) is a autosomal recessive disorder associated with severe neurologic defects and resulting in early infantile death. The phenotype includes the alternative clinical designations Walker-Warburg syndrome (WWS) and muscle-eye-brain disease (MEB). The disorder represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1 ), collectively known as dystroglycanopathies (summary by Buysse et al., 2013).For a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 (OMIM ).

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13; MDDGA13 Is also known as walker-warburg syndrome or muscle-eye-brain disease, b3gnt1-related

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Cryptorchidism
  • Spasticity


SOURCES: OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13; MDDGA13

Medium match PENILE AGENESIS


Penile agenesis is a rare urogenital tract malformation characterized by complete congenital absence of the phallus. It is usually accompanied by a well-developed scrotum and presence of a skin tag at the anal verge (with or without a urethral meatal opening within it). Often, other genitourinary (e.g. cryptorchidism, renal agenesis and dysplasia, urinary reflux, prostate agenesis) as well as non-genitourinary abnormalities (including skeletal and neural disorders, anal stenosis, imperforate anus, cardiac defects) are associated.

PENILE AGENESIS Is also known as penis agenesis|aphallia|familial incomplete male pseudohermaphroditism, type 2|male pseudohermaphroditism due to 5-alpha-reductase deficiency

Related symptoms:

  • Cryptorchidism
  • Depressed nasal bridge
  • Ventricular septal defect
  • Atrial septal defect
  • Short nose


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about PENILE AGENESIS

Medium match MCKUSICK-KAUFMAN SYNDROME


McKusick-Kaufman syndrome is a very rare, genetic developmental disorder presenting in the neonatal period characterized by genitourinary malformations, polydactyly, and more rarely, congenital heart disease or gastrointestinal malformations.

MCKUSICK-KAUFMAN SYNDROME Is also known as kaufman-mckusick syndrome|hydrometrocolpos-postaxial polydactyly syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Failure to thrive
  • Cleft palate


SOURCES: ORPHANET MENDELIAN

More info about MCKUSICK-KAUFMAN SYNDROME

Medium match RENAL AGENESIS, BILATERAL


Bilateral renal agenesis is the most profound form of renal agenesis (see this term), characterized by complete absence of kidney development, absent ureters and subsequent absence of fetal renal function resulting in Potter sequence with pulmonary hypoplasia related to oligohydramnios, which is fatal shortly after birth.

RENAL AGENESIS, BILATERAL Is also known as renal aplasia|renal adysplasia|hereditary renal aplasia|renal agenesis|hra

Related symptoms:

  • Hypertelorism
  • Abnormal facial shape
  • Cleft palate
  • Cryptorchidism
  • Low-set ears


SOURCES: OMIM ORPHANET MENDELIAN

More info about RENAL AGENESIS, BILATERAL

Medium match MCKUSICK-KAUFMAN SYNDROME; MKKS


McKusick-Kaufman syndrome is an autosomal recessive disorder characterized by genitourinary malformations, especially hydrometrocolpos, polydactyly, and, more rarely, heart or gastrointestinal malformations (summary by Schaefer et al., 2011).

MCKUSICK-KAUFMAN SYNDROME; MKKS Is also known as hydrometrocolpos syndrome|kaufman-mckusick syndrome|hmcs|hydrometrocolpos, postaxial polydactyly, and congenital heart malformation

Related symptoms:

  • Cryptorchidism
  • Abnormality of the skeletal system
  • Respiratory distress
  • Edema
  • Syndactyly


SOURCES: OMIM MENDELIAN

More info about MCKUSICK-KAUFMAN SYNDROME; MKKS

Medium match BARDET-BIEDL SYNDROME


Bardet-Biedl syndrome (BBS) is a ciliopathy with multisystem involvement.

BARDET-BIEDL SYNDROME Is also known as bbs

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Nystagmus
  • Cryptorchidism


SOURCES: ORPHANET MENDELIAN

More info about BARDET-BIEDL SYNDROME

Top 5 symptoms//phenotypes associated to Cryptorchidism and Renal cyst

Symptoms // Phenotype % cases
Hydronephrosis Uncommon - Between 30% and 50% cases
Anal atresia Uncommon - Between 30% and 50% cases
Multicystic kidney dysplasia Uncommon - Between 30% and 50% cases
Abnormality of cardiovascular system morphology Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Cryptorchidism and Renal cyst. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Global developmental delay Cystic renal dysplasia Pulmonary hypoplasia Short stature Tracheoesophageal fistula Postaxial hand polydactyly Hydroureter Obesity Micropenis Polydactyly

Rare Symptoms - Less than 30% cases


Bilateral renal hypoplasia Oligohydramnios Syndactyly Renal dysplasia Hypoplasia of penis Blindness Hydrometrocolpos Hypospadias Brachydactyly Atrial septal defect Seizures Cognitive impairment Ventricular septal defect Spasticity Abnormality of the kidney Cerebellar hypoplasia Polycystic kidney dysplasia Hypertension Vaginal atresia Finger syndactyly Cleft palate Rod-cone dystrophy Bilateral renal agenesis Primary amenorrhea External genital hypoplasia Edema Hypogonadism Aganglionic megacolon Tetralogy of Fallot Urogenital sinus anomaly Abdominal distention Abnormal intestine morphology Retrognathia Depressed nasal ridge Talipes equinovarus Talipes Proteinuria Renal hypoplasia Renal agenesis Falls Ectopic anus Epicanthus Abnormality of the metacarpal bones Urethral atresia, male Urethral fistula Failure to thrive High palate Patent ductus arteriosus Renal hypoplasia/aplasia Hypoplastic left heart Low-set ears Tarsal synostosis Postaxial foot polydactyly Urethral stricture Glandular hypospadias Hypertelorism Abnormal facial shape Abnormality of the genitourinary system Bilateral renal dysplasia Unilateral renal agenesis Skeletal muscle atrophy Penoscrotal hypospadias Transverse vaginal septum Mesoaxial hand polydactyly Prominent scrotal raphe Vesicovaginal fistula Pelvic mass Hydrocolpos Hearing impairment Nystagmus Downslanted palpebral fissures Rectovaginal fistula Short neck Low-set, posteriorly rotated ears Prominent nasal bridge Neurological speech impairment Pigmentary retinopathy Nephrotic syndrome Hepatic fibrosis Generalized hirsutism Abnormal electroretinogram Hypoplasia of the ovary Chordee Nonimmune hydrops fetalis Non-midline cleft lip Cloacal abnormality Breech presentation Bicornuate uterus Abnormality of female internal genitalia Abnormal sacrum morphology Nonketotic hypoglycemia Urogenital fistula Potter facies Urethral obstruction Sirenomelia Fetal polyuria Edema of the lower limbs Abnormality of the skeletal system Respiratory distress Postaxial polydactyly Amenorrhea Choanal atresia Lymphedema Hydrops fetalis Abnormal vertebral morphology Congenital hip dislocation Esophageal atresia Absent penis Bifid scrotum Incomplete male pseudohermaphroditism Hyperreflexia Short thumb Bone marrow hypocellularity Hypoplasia of the radius Bilateral cryptorchidism Absent thumb Chromosome breakage Rectal atresia Cataract Hepatomegaly Abnormal heart morphology Ventriculomegaly Dilatation Abnormality of the cerebral white matter Congenital cataract Cerebral calcification Progressive neurologic deterioration Postnatal microcephaly Ectopic kidney Stage 5 chronic kidney disease Renal insufficiency Hypoplasia of the corpus callosum Umbilical hernia Abnormality of the dentition Clinodactyly Reduced visual acuity Nyctalopia Retinal degeneration Retinal dystrophy Anosmia Polyhydramnios Nausea and vomiting Anemia Sepsis Intestinal malrotation Omphalocele Abnormality of the gastrointestinal tract Microcolon Megacystis Hypoperistalsis Neoplasm of the heart Neoplasm Generalized hypotonia Hydrocephalus Rectal fistula Maternal diabetes Ambiguous genitalia Gynecomastia Abnormality of the hair Scrotal hypoplasia Abnormality of the voice Bilateral talipes equinovarus Decreased fertility Male pseudohermaphroditism Abnormality of the endocrine system Abnormality of metabolism/homeostasis Perineal hypospadias Ambiguous genitalia, male Atrophy of the spinal cord Anorectal anomaly Abnormality of the bladder Bilateral lung agenesis Unilateral renal hypoplasia Fetal pyelectasis Posteriorly rotated ears Short nose Elevated serum creatine phosphokinase Lissencephaly Agenesis of corpus callosum Muscular dystrophy Dandy-Walker malformation Decreased testicular size Encephalocele Heterotopia Opacification of the corneal stroma Severe muscular hypotonia Congenital muscular dystrophy Depressed nasal bridge Hypoplasia of the brainstem Cortical dysplasia Absent septum pellucidum Occipital encephalocele Anencephaly Retinal dysplasia Type II lissencephaly Renal cortical cysts Optic nerve dysplasia Medial flaring of the eyebrow



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