Cryptorchidism, and Cholestasis

Diseases related with Cryptorchidism and Cholestasis

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


Top matches:

Medium match PITUITARY STALK INTERRUPTION SYNDROME


Pituitary stalk interruption syndrome (PSIS) is a congenital abnormality of the pituitary that is responsible for pituitary deficiency and is usually characterized by the triad of a very thin or interrupted pituitary stalk, an ectopic (or absent) posterior pituitary (EPP) and hypoplasia or aplasia of the anterior pituitary visible on MRI. In some patients the abnormality may be limited to EPP (also called ectopic neurohypophysis) or to an interrupted pituitary stalk.

PITUITARY STALK INTERRUPTION SYNDROME Is also known as psis|ectopic neurohypophysis

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Failure to thrive


SOURCES: ORPHANET MENDELIAN

More info about PITUITARY STALK INTERRUPTION SYNDROME

Medium match JUVENILE POLYPOSIS SYNDROME; JPS


Juvenile polyposis syndrome is an autosomal dominant condition that predisposes gene carriers to various types of tumors. The diagnosis is based on the occurrence of hamartomatous gastrointestinal polyps that turn into malignant lesions in approximately 20% of cases (Handra-Luca et al., 2005).It had been suggested that juvenile polyposis can be caused by mutations in the PTEN gene (OMIM ), the same gene that is mutant in Cowden syndrome-1 (OMIM ). In a comprehensive review of PTEN, Waite and Eng (2002) concluded that juvenile intestinal polyposis is not a so-called PTEN hamartoma-tumor syndrome (PHTS). They suggested that the discovery of the germline PTEN mutation in an individual considered to have JPS should raise a suspicion that the clinical diagnosis is incorrect and that such an individual should be managed medically in the same manner as all patients with PHTS.

JUVENILE POLYPOSIS SYNDROME; JPS Is also known as polyposis, juvenile intestinal|pji|jip|juvenile intestinal polyposis|polyposis, familial, of entire gastrointestinal tract

Related symptoms:

  • Seizures
  • Neoplasm
  • Failure to thrive
  • Pain
  • Cryptorchidism


SOURCES: OMIM MENDELIAN

More info about JUVENILE POLYPOSIS SYNDROME; JPS

Medium match ALG8-CDG


ALG8-CDG is a form of congenital disorders of N-linked glycosylation that is characterized by gastrointestinal symptoms (diarrhea, vomiting, feeding problems with failure to thrive, protein-losing enteropathy), edema and ascites (including hydrops fetalis; see this term), hepatomegaly, renal tubulopathy, coagulation anomalies due to thrombocytopenia, brain involvement (psychomotor delay, seizures, ataxia), facial dysmorphism (low-set ears and retrognathia), pes equinovarus, and muscular hypotonia. Cataracts may also be observed. Prognosis is usually poor. The disease is caused by loss-of-function mutations in the gene ALG8 (11q14.1), resulting in a block in the initial step of protein glycosylation.

ALG8-CDG Is also known as cdg-ih|congenital disorder of glycosylation type 1h|cdgih|carbohydrate deficient glycoprotein syndrome type ih|cdg1h|cdg syndrome type ih|cdg ih|glucosyltransferase 2 deficiency|congenital disorder of glycosylation type ih

Related symptoms:

  • Generalized hypotonia
  • Growth delay
  • Hypertelorism
  • Failure to thrive
  • Abnormal facial shape


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about ALG8-CDG

Mendelian

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

Learn more

Other less relevant matches:

Medium match DPAGT1-CDG


DPAGT1-CDG is a form of congenital disorders of N-linked glycosylation characterized by hypotonia, intractable seizures, developmental delay, microcephaly and severe fetal hypokinesia. Additional features that may be observed include apnea and respiratory deficiency, cataracts, joint contractures, vermian hypoplasia, dysmorphic features (esotropia, arched palate, micrognathia, finger clinodactyly, single flexion creases) and feeding difficulties. The disease is caused by loss-of-function mutations in the gene DPAGT1 (11q23.3).

DPAGT1-CDG Is also known as cdg syndrome type ij|cdg-ij|congenital disorder of glycosylation type 1j|cdgij|cdg1j|carbohydrate deficient glycoprotein syndrome type ij|cdg ij|dolichyl-phosphate n-acetylgalactosamine phosphotransferase deficiency|congenital disorder of glycosylation ty

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about DPAGT1-CDG

Medium match LEPRECHAUNISM


Leprechaunism is a congenital form of extreme insulin resistance (a group of syndromes that also includes Rabson-Mensenhall syndrome, type A insulin-resistance syndrome, and acquired type B insulin-resistance syndrome; see these terms) characterized by intrauterine and mainly postnatal severe growth retardation.

LEPRECHAUNISM Is also known as donohue syndrome|leprechaunism

Related symptoms:

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Growth delay
  • Hypertelorism


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about LEPRECHAUNISM

Medium match BECKWITH-WIEDEMANN SYNDROME DUE TO 11P15 MICRODELETION


Related symptoms:

  • Microcephaly
  • Hypertelorism
  • Cleft palate
  • Cryptorchidism
  • Epicanthus


SOURCES: ORPHANET MENDELIAN

More info about BECKWITH-WIEDEMANN SYNDROME DUE TO 11P15 MICRODELETION

Medium match PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER); PBD5A


The peroxisomal biogenesis disorder (PBD) Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome. Affected children present in the newborn period with profound hypotonia, seizures, and inability to feed. Characteristic craniofacial anomalies, eye abnormalities, neuronal migration defects, hepatomegaly, and chondrodysplasia punctata are present. Children with this condition do not show any significant development and usually die in the first year of life (summary by Steinberg et al., 2006).For a complete phenotypic description and a discussion of genetic heterogeneity of Zellweger syndrome, see {214100}.Individuals with PBDs of complementation group 5 (CG5, equivalent to CG10 and CGF) have mutations in the PEX2 gene. For information on the history of PBD complementation groups, see {214100}.

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER); PBD5A

Medium match 1P31P32 MICRODELETION SYNDROME


1p31p32 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the short arm of chromosome 1, characterized by developmental delay, corpus callosum agenesis/hypoplasia and craniofacial dysmorphism, such as macrocephaly (caused by hydrocephalus or ventriculomegaly), low-set ears, anteverted nostrils and micrognathia. Urinary tract defects (e.g. vesicoureteral reflux, urinary incontinence) are also frequently associated. Other reported variable manifestations include hypotonia, tethered spinal cord, Chiari type I malformation and seizures.

1P31P32 MICRODELETION SYNDROME Is also known as monosomy 1p31p32|del(1)(p31p32)

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive


SOURCES: OMIM ORPHANET MENDELIAN

More info about 1P31P32 MICRODELETION SYNDROME

Medium match PRIMARY MICROCEPHALY-EPILEPSY-PERMANENT NEONATAL DIABETES SYNDROME


Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome is a rare, genetic, neurologic disease characterized by congenital microcephaly, severe, early-onset epileptic encephalopathy (manifesting as intractable, myoclonic and/or tonic-clonic seizures), permanent, neonatal, insulin-dependent diabetes mellitus, and severe global developmental delay. Muscular hypotonia, skeletal abnormalities, feeding difficulties, and dysmorphic facial features (including narrow forehead, anteverted nares, small mouth with deep philtrum, tented upper lip vermilion) are frequently associated. Brain MRI reveals cerebral atrophy with cortical gyral simplification and aplasia/hypoplasia of the corpus callosum.

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about PRIMARY MICROCEPHALY-EPILEPSY-PERMANENT NEONATAL DIABETES SYNDROME

Medium match PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER); PBD2A


The peroxisome biogenesis disorder (PBD) Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome. Affected children present in the newborn period with profound hypotonia, seizures, and inability to feed. Characteristic craniofacial anomalies, eye abnormalities, neuronal migration defects, hepatomegaly, and chondrodysplasia punctata are present. Children with this condition do not show any significant development and usually die in the first year of life (summary by Steinberg et al., 2006).For a complete phenotypic description and a discussion of genetic heterogeneity of Zellweger syndrome, see {214100}.Individuals with PBDs of complementation group 2 (CG2) have mutations in the PEX5 gene. For information on the history of PBD complementation groups, see {214100}.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Hypertelorism
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER); PBD2A

Top 5 symptoms//phenotypes associated to Cryptorchidism and Cholestasis

Symptoms // Phenotype % cases
Jaundice Common - Between 50% and 80% cases
Failure to thrive Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Global developmental delay Hypertelorism Anemia Cataract Hepatomegaly Intrauterine growth retardation Microcephaly Camptodactyly Abnormal facial shape Talipes equinovarus Single transverse palmar crease Large fontanelles Micrognathia Hernia Low-set ears Pigmentary retinopathy Clitoral hypertrophy Cleft palate Epicanthus Umbilical hernia Muscular hypotonia

Rare Symptoms - Less than 30% cases


Diarrhea Palpebral edema Brushfield spots Abdominal distention Optic nerve dysplasia Hypertrichosis Gingival overgrowth Abnormality of the helix Metatarsus adductus Overfolded helix Patent ductus arteriosus Cubitus valgus Poor suck Opacification of the corneal stroma Upslanted palpebral fissure Ventricular septal defect Hypoglycemia Intrahepatic biliary dysgenesis Hirsutism Hypertension Recurrent respiratory infections Narrow mouth Cognitive impairment Hypoplasia of the corpus callosum Inguinal hernia Apnea Anteverted nares Elevated hepatic transaminase Abnormality of the skeletal system Stippled chondral calcification Hypertonia Proptosis Feeding difficulties Feeding difficulties in infancy Facial asymmetry High palate Nystagmus Polymicrogyria Agenesis of corpus callosum Growth delay Respiratory distress Short stature Splenomegaly Overgrowth Hypothyroidism Dyspnea Hypoalbuminemia Areflexia Abnormal heart morphology High forehead Full cheeks Macrocephaly Abnormality of the outer ear Motor delay Large for gestational age Nephroblastoma Abnormality of the mitochondrion Downslanted palpebral fissures Frontal bossing Ventriculomegaly Turricephaly Dilatation Abnormality of the face Cardiomegaly Abnormality of the ureter Premature birth Hydrocephalus Short nose Prominent nose Nevus flammeus Neonatal hypoglycemia Asymmetry of the thorax Flat face Renal cyst Hypoplasia of the thymus Congenital megaureter Auricular pit Posterior helix pit Hemifacial hypertrophy Anterior creases of earlobe Epiphyseal stippling Abdominal wall defect Enlarged kidney Visceromegaly Hemihypertrophy Generalized neonatal hypotonia Mild global developmental delay Macrogyria Renal cortical microcysts Diastasis recti Abnormal eyebrow morphology Capillary hemangioma Hepatosplenomegaly Round face Retinopathy Prominent forehead Osteopenia Tapered finger Abnormality of the liver Respiratory tract infection Muscular hypotonia of the trunk Neonatal hypotonia Coarse facial features Cerebral cortical atrophy Delayed myelination Diabetes mellitus Hypogonadism Cerebellar hypoplasia Pneumonia Obesity Tented philtrum Intellectual disability, severe Generalized myoclonic seizures Generalized-onset seizure Blindness Deep philtrum Thin bony cortex Prolonged neonatal jaundice Microalbuminuria Long palpebral fissure Pathologic fracture Cortical gyral simplification Brisk reflexes CNS hypomyelination Narrow forehead Tented upper lip vermilion Scrotal hypoplasia Narrow palate Cerebral visual impairment Cerebellar vermis hypoplasia Intellectual disability, profound Hypsarrhythmia Abnormality of cardiovascular system morphology Acidosis Hyperactivity Thin vermilion border Abnormality of the urinary system Aplasia/Hypoplasia of the corpus callosum Short chin Renal hypoplasia Hip dysplasia Urinary incontinence Vesicoureteral reflux Broad forehead Aminoaciduria Attention deficit hyperactivity disorder Primitive reflex Polycystic kidney dysplasia Craniosynostosis Hydronephrosis Thin upper lip vermilion Polydactyly Intellectual disability, progressive Sparse eyebrow Developmental regression Metopic synostosis Optic atrophy Ptosis Partial absence of the septum pellucidum Craniofacial asymmetry Dolichocephaly Intraventricular hemorrhage Ureterocele Broad face Obsessive-compulsive behavior Arachnoid cyst Joint contracture of the hand Narrow nose Arnold-Chiari type I malformation Syringomyelia Absent septum pellucidum Cutis marmorata Macroglossia Concave nasal ridge Hematuria Duodenal adenocarcinoma Long philtrum Vomiting Short neck Brachydactyly Hepatic vascular malformations Adenocarcinoma of the colon Multiple gastric polyps Abnormal cardiac septum morphology Intussusception Melena Hematemesis Hamartomatous polyposis Stomach cancer Rectal prolapse Thrombocytopenia Hepatic failure Clubbing of fingers Primary hypothyroidism Respiratory insufficiency Tremor Hyperreflexia Flexion contracture Strabismus Abnormal isoelectric focusing of serum transferrin Abnormality of the renal tubule Pulmonary hypoplasia Protein-losing enteropathy Tachypnea Abnormal intestine morphology Decreased liver function Lymphedema Decreased fetal movement Ascites Intestinal polyposis Hematochezia Clinodactyly Abnormality of the hypothalamus-pituitary axis Fatigue Pain Neoplasm Abnormality of the pituitary gland Septo-optic dysplasia Ectopic posterior pituitary Adrenal hypoplasia Headache Diabetes insipidus Primary amenorrhea Hypoplasia of penis Hypotension Delayed puberty Micropenis Congestive heart failure Abdominal pain Hemoptysis Diplopia Polycythemia Hamartoma Colon cancer Clubbing Portal hypertension Hypokalemia Telangiectasia Carcinoma Epistaxis Cyanosis Gastrointestinal hemorrhage Chest pain Vertigo Cough Stroke Cerebral atrophy Clinodactyly of the 5th finger Synophrys Severe intrauterine growth retardation Ovarian cyst Small face Long foot Severe failure to thrive Thickened nuchal skin fold Hearing abnormality Lipoatrophy Long penis Reduced subcutaneous adipose tissue Hypermelanotic macule Decreased muscle mass Glucose intolerance Hyperglycemia Large hands Fasting hypoglycemia Thick nasal alae Hyperinsulinemia Abnormality of the dentition Abnormality of the kidney Deeply set eye Polyhydramnios Mandibular prognathia Brachycephaly Malar flattening Asymmetry of the breasts Abnormality of the abdominal wall Prominent nipples Adipose tissue loss Elfin facies Postprandial hyperglycemia Female pseudohermaphroditism Absence of subcutaneous fat Pancreatic islet-cell hyperplasia Precocious puberty Cachexia Aggressive behavior Skin dimples Recurrent infections Dysphagia Skeletal muscle atrophy Depressed nasal bridge Reduced antithrombin III activity Type I transferrin isoform profile Hypoproteinemia Severe short stature Inverted nipples Infantile spasms Finger clinodactyly Progressive microcephaly Exotropia Poor speech Congenital cataract Delayed skeletal maturation Hyperkeratosis Cutis laxa Epidermal acanthosis Acanthosis nigricans Generalized hirsutism Gynecomastia Insulin resistance Hepatic fibrosis Thick lower lip vermilion Type II diabetes mellitus Macrotia Nail dysplasia High, narrow palate Thick vermilion border Small for gestational age Wide mouth Postnatal growth retardation Low-set, posteriorly rotated ears Elevated long chain fatty acids



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Frontal bossing and Gliosis, related diseases and genetic alterations Myopathy and Hypertonia, related diseases and genetic alterations Low-set ears and Coarctation of aorta, related diseases and genetic alterations Flexion contracture and Abnormality of metabolism/homeostasis, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more