Cryptorchidism, and Hyperinsulinemia

Diseases related with Cryptorchidism and Hyperinsulinemia

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


Top matches:

High match MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION; CFTD


Congenital fiber-type disproportion (CFTD) myopathy is a genetically heterogeneous disorder in which there is relative hypotrophy of type 1 muscle fibers compared to type 2 fibers on skeletal muscle biopsy. However, these findings are not specific and can be found in many different myopathic and neuropathic conditions. Clarke and North (2003) stated that the diagnosis of 'congenital fiber-type disproportion' as a disease entity is one of exclusion. They also suggested that the nonspecific histologic findings should be termed 'fiber size disproportion,' thus reserving the term CFTD for those cases in which no secondary cause can be found.

MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION; CFTD Is also known as cftdm|fiber-type disproportion myopathy, congenital

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION; CFTD

High 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

High match PRADER-WILLI SYNDROME DUE TO A POINT MUTATION


SHFYNG syndrome is an autosomal dominant multisystem disorder characterized by delayed psychomotor development, intellectual disability (ID), hypotonia, and behavioral abnormalities. Additional features include contractures, feeding difficulties, and variable dysmorphic facial features. The severity of the disorder is highly variable: some patients may die in utero with fetal akinesia, whereas others can live with moderate disability. Individuals are affected only if the mutation occurs on the paternal allele, since MAGEL2 is a maternally imprinted gene (summary by Fountain et al., 2017)

PRADER-WILLI SYNDROME DUE TO A POINT MUTATION Is also known as schaaf-yang syndrome|pws due to a point mutation|pwls|prader-willi-like syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about PRADER-WILLI SYNDROME DUE TO A POINT MUTATION

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Other less relevant matches:

High match PERLMAN SYNDROME


Perlman syndrome is characterized principally by polyhydramnios, neonatal macrosomia, bilateral renal tumours (hamartomas with or without nephroblastomatosis), hypertrophy of the islets of Langerhans and facial dysmorphism.

PERLMAN SYNDROME Is also known as nephroblastomatosis, fetal ascites, macrosomia, and wilms tumor|nephroblastomatosis-fetal ascites-macrosomia-wilms tumor syndrome|renal hamartomas, nephroblastomatosis, and fetal gigantism

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about PERLMAN SYNDROME

Medium match PRADER-WILLI SYNDROME; PWS


Prader-Willi syndrome is characterized by diminished fetal activity, obesity, muscular hypotonia, mental retardation, short stature, hypogonadotropic hypogonadism, and small hands and feet. It can be considered to be an autosomal dominant disorder and is caused by deletion or disruption of a gene or several genes on the proximal long arm of the paternal chromosome 15 or maternal uniparental disomy 15, because the gene(s) on the maternal chromosome(s) 15 are virtually inactive through imprinting. Horsthemke and Wagstaff (2008) provided a detailed review of the mechanisms of imprinting of the Prader-Willi/Angelman syndrome (OMIM ) region.See also the chromosome 15q11-q13 duplication syndrome (OMIM ), which shows overlapping clinical features.

PRADER-WILLI SYNDROME; PWS Is also known as prader-labhart-willi syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about PRADER-WILLI SYNDROME; PWS

Medium match FANCONI ANEMIA


Fanconi anemia (FA) is a hereditary DNA repair disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors.

FANCONI ANEMIA Is also known as fanconi pancytopenia|fanconi anemia|fa

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about FANCONI ANEMIA

Low match HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA; HH4


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).'For a discussion of genetic heterogeneity of autosomal hypogonadotropic hypogonadism with or without anosmia, see {147950}.

Related symptoms:

  • Seizures
  • Hearing impairment
  • Sensorineural hearing impairment
  • Cleft palate
  • Cryptorchidism


SOURCES: OMIM MESH MENDELIAN

More info about HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA; HH4

Low match GLUCOCORTICOID DEFICIENCY 4 WITH OR WITHOUT MINERALOCORTICOID DEFICIENCY; GCCD4


Familial glucocorticoid deficiency is a rare autosomal recessive disorder characterized by an inability of the adrenal cortex to produce cortisol in response to stimulation by adrenocorticotropic hormone (ACTH). Affected individuals typically present within the first few months of life with symptoms related to cortisol deficiency, including failure to thrive, recurrent illnesses or infections, hypoglycemia, convulsions, and shock. The disease is life-threatening if untreated (summary by Meimaridou et al., 2012).For a discussion of genetic heterogeneity of familial glucocorticoid deficiency, see GCCD1 (OMIM ).

Related symptoms:

  • Seizures
  • Neoplasm
  • Failure to thrive
  • Cryptorchidism
  • Cardiomyopathy


SOURCES: OMIM MENDELIAN

More info about GLUCOCORTICOID DEFICIENCY 4 WITH OR WITHOUT MINERALOCORTICOID DEFICIENCY; GCCD4

Low 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

Low match PEDIATRIC HEPATOCELLULAR CARCINOMA


Pediatric hepatocellular carcinoma (pediatric HCC) is a rare, aggressive, malignant hepatic tumor that develops mainly in children over 10 years of age.

PEDIATRIC HEPATOCELLULAR CARCINOMA Is also known as liver cancer|lcc|childhood-onset hcc|hcc|liver cell carcinoma|hepatoma|cancer, hepatocellular|childhood-onset hepatocellular carcinoma|pediatric hcc

Related symptoms:

  • Microcephaly
  • Neoplasm
  • Cryptorchidism
  • Motor delay
  • Hepatomegaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about PEDIATRIC HEPATOCELLULAR CARCINOMA

Top 5 symptoms//phenotypes associated to Cryptorchidism and Hyperinsulinemia

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
Failure to thrive Common - Between 50% and 80% cases
Short stature Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Hypoglycemia Neoplasm Abnormal facial shape Scoliosis High palate Hypertelorism Hypogonadism Ptosis Growth delay Micropenis Diabetes mellitus Insulin resistance Glucose intolerance Generalized hypotonia Obesity Decreased fetal movement Epicanthus Dolichocephaly Hepatomegaly Cleft palate Micrognathia Microcephaly Depressed nasal bridge Hypothyroidism Intrauterine growth retardation Primary amenorrhea Respiratory distress Neonatal hypotonia Hepatic fibrosis Short nose Precocious puberty Feeding difficulties Vomiting Strabismus Type II diabetes mellitus

Rare Symptoms - Less than 30% cases


Myopia Failure to thrive in infancy Increased body weight Frontal bossing Polyphagia Poor suck Talipes equinovarus Anteverted nares Sleep apnea Autism Open mouth Short palpebral fissure Polyhydramnios Esotropia Kyphosis Sleep disturbance Short foot Small hand Abnormality of the hypothalamus-pituitary axis Smooth philtrum Hyperlordosis Apnea Clinodactyly Retrognathia Narrow forehead Edema Hypoventilation Weight loss Ventriculomegaly Hearing impairment Congestive heart failure Almond-shaped palpebral fissure Osteoporosis Upslanted palpebral fissure Leukemia Motor delay Delayed puberty Chromosome breakage Hypopigmentation of the skin Oligohydramnios Myeloid leukemia Hypogonadotrophic hypogonadism Adrenal insufficiency Fever Anemia Temperature instability Abnormality of the kidney Narrow palm Muscular hypotonia Hearing abnormality Renal insufficiency Azoospermia Hypospadias Prominent forehead Abnormality of the pinna Nystagmus Specific learning disability Abnormality of the cardiovascular system Hypoplasia of penis Abnormality of the liver Hypertrophic cardiomyopathy Carcinoma Fatigue Pancreatic islet-cell hyperplasia Tapered finger Low-set ears Clumsiness Osteopenia Cognitive impairment Muscular hypotonia of the trunk Myopathy Postnatal growth retardation Respiratory failure Hernia Decreased muscle mass Wide mouth Postprandial hyperglycemia Hypotension Abdominal distention Lumbar hyperlordosis High, narrow palate Small for gestational age Large hands Cardiomyopathy Umbilical hernia Hyperglycemia Inguinal hernia Proptosis Hirsutism Severe short stature Flexion contracture Recurrent respiratory infections Respiratory insufficiency Infantile muscular hypotonia Skeletal muscle atrophy Dysphagia Visual impairment Hyperreflexia Thrombocytopenia Patent ductus arteriosus Hydrocephalus Abnormality of cardiovascular system morphology Headache Microphthalmia Hypertyrosinemia Atrial septal defect Neoplasm of the liver Abnormality of the skeletal system Compensated hypothyroidism Thrombocytosis Abnormal heart morphology Astigmatism Choanal atresia Pancytopenia Sloping forehead Tetralogy of Fallot Renal agenesis Lymphoma Neutropenia Bruising susceptibility Abnormality of skin pigmentation Vertigo Anal atresia Clinodactyly of the 5th finger Facial asymmetry Abnormality of the foot Toe syndactyly Hip dislocation Finger syndactyly Abnormal cardiac septum morphology Hepatocellular carcinoma Irritability Abnormality of the eye Pes planus Micronodular cirrhosis Giant cell hepatitis Cataract Iris hypopigmentation Hepatic necrosis Hypothermia Ocular albinism Hypoplasia of the fovea Acrocyanosis Oligomenorrhea Overweight Central hypotonia Abnormality of lipid metabolism Hypopigmentation of hair Cor pulmonale Pulmonary embolism Striae distensae Impaired pain sensation Narrow nasal bridge External genital hypoplasia Truncal obesity Viral hepatitis Skeletal muscle hypertrophy Albinism Generalized hypopigmentation Abdominal obesity Hepatoblastoma Psychotic episodes Ataxia Chronic hepatitis Chronic infection Elevated alpha-fetoprotein Aganglionic megacolon Embryonal neoplasm Acromicria Poor gross motor coordination Hypopnea Hypoplastic labia minora Poor fine motor coordination Epigastric pain Portal vein thrombosis Central adrenal insufficiency Triangular mouth Disseminated intravascular coagulation Erysipelas Frontal upsweep of hair Clitoral hypoplasia Anteverted ears Abnormality of the genital system Abdominal pain Hepatitis Bicornuate uterus Pyridoxine-responsive sideroblastic anemia Abnormality of the preputium Abnormal aortic valve morphology Sensorineural hearing impairment Decreased testicular size Anosmia Acute monocytic leukemia Abnormality of femur morphology Coma Abnormality of the thumb Abnormal renal morphology Dehydration Abnormality of the testis Abnormality of the uterus Aplastic anemia Abnormality of the upper limb B-cell lymphoma Arteriovenous malformation Abnormality of the ulna Hyperpigmentation of the skin Shock Aplasia/Hypoplasia of fingers Aplasia/Hypoplasia of the uvula Hyponatremia Meckel diverticulum Abnormal carotid artery morphology Hypoplastic anemia Chromosomal breakage induced by crosslinking agents Decreased fertility in males Clubbing of toes Partial duplication of thumb phalanx Complete duplication of thumb phalanx Aplasia/Hypoplasia of the iris Low-grade fever Duplicated collecting system Neoplasm of head and neck Prolonged G2 phase of cell cycle Duodenal stenosis Primary hypothyroidism Abnormality of nervous system morphology Abnormal aortic morphology Reticulocytopenia Abnormality of chromosome stability Abnormal localization of kidney Anemic pallor Deficient excision of UV-induced pyrimidine dimers in DNA Emotional lability Abnormal eyelid morphology Hepatic steatosis Abnormality of the pituitary gland Jaundice Renal hypoplasia/aplasia Cranial nerve paralysis Diabetes insipidus Adrenal hypoplasia Ectopic posterior pituitary Septo-optic dysplasia Leukopenia Type I diabetes mellitus Horseshoe kidney Hypoglycemic coma Bone marrow hypocellularity Hypergonadotropic hypogonadism Spina bifida Absent testis Abnormal vertebral morphology Short thumb Cafe-au-lait spot Telangiectasia Cirrhosis Recurrent urinary tract infections Hypernatriuria Increased circulating renin level Apathy Congenital hypothyroidism External ear malformation Irregular hyperpigmentation Hyperkalemia Aplasia/Hypoplasia of the radius Absent radius Abnormality of blood and blood-forming tissues Acute myeloid leukemia Multiple cafe-au-lait spots Absent thumb Hydroureter Ectopic kidney Renal salt wasting Squamous cell carcinoma Hypoplasia of the ulna Tracheoesophageal fistula Triphalangeal thumb Myelodysplasia Abnormality of the urinary system Abnormality of vision Reduced bone mineral density Primary adrenal insufficiency Hypopigmented skin patches Inflammation of the large intestine Ileal atresia Radial deviation of finger Abnormality of the abdominal wall Absent speech Short neck Brachydactyly Asymmetry of the breasts Prominent nipples Adipose tissue loss Elfin facies Female pseudohermaphroditism Absence of subcutaneous fat Thick nasal alae Constipation Long penis Fasting hypoglycemia Ovarian cyst Small face Concave nasal ridge Long foot Severe failure to thrive Thickened nuchal skin fold Severe intrauterine growth retardation Lipoatrophy Depressivity Hyperhidrosis Hypermelanotic macule Adducted thumb Fetal akinesia sequence Hyperventilation Delayed ability to walk Short humerus Limited elbow extension Rocker bottom foot Akinesia Impulsivity Trigonocephaly Pterygium Microretrognathia Mandibular prognathia Exotropia Wide intermamillary distance Inability to walk Thick eyebrow Talipes Arthrogryposis multiplex congenita Autistic behavior Camptodactyly Coarse facial features Gastroesophageal reflux Reduced subcutaneous adipose tissue Clitoral hypertrophy Hyperinsulinemic hypoglycemia Generalized muscle weakness Glycosuria Bulbar palsy Multiple joint contractures Respiratory insufficiency due to muscle weakness Congenital hip dislocation Narrow face Progressive muscle weakness Atrial fibrillation Waddling gait Long face Centrally nucleated skeletal muscle fibers Lower limb muscle weakness Limb muscle weakness Ophthalmoplegia Dilated cardiomyopathy Muscular dystrophy Facial palsy Joint laxity Proximal muscle weakness Areflexia Muscle weakness Weak cry Difficulty running Cachexia Thick vermilion border Cutis laxa Acanthosis nigricans Generalized hirsutism Gynecomastia Gingival overgrowth Cholestasis Hypertrichosis Thick lower lip vermilion Epidermal acanthosis Nail dysplasia Feeding difficulties in infancy Insulin-resistant diabetes mellitus Low-set, posteriorly rotated ears Macrotia Hyperkeratosis Delayed skeletal maturation Recurrent infections Type 1 fibers relatively smaller than type 2 fibers Spinal deformities Abnormal glucose tolerance Limb joint contracture Nemaline bodies Misalignment of teeth Excessive salivation Nasal speech Intellectual disability, mild Respiratory tract infection Abnormality of the nervous system Photophobia Thin upper lip vermilion Narrow mouth Hyperactivity Hyporeflexia Dilatation Syndactyly Behavioral abnormality Stroke Abnormality of the dentition Intellectual disability, severe Hypertension Delayed speech and language development Pain Prominent xiphoid process Distal ileal atresia Nephrogenic rest Renal hamartoma Hypoplasia of the abdominal wall musculature Attention deficit hyperactivity disorder Pruritus Abnormality of pancreas morphology Febrile seizures Scrotal hypoplasia Bicuspid aortic valve Narrow palpebral fissure Spontaneous abortion Aortic valve stenosis Bradycardia Cutaneous photosensitivity Psychosis Amenorrhea Hip dysplasia Growth hormone deficiency Hypermetropia Gastrointestinal hemorrhage Full cheeks Sepsis Downturned corners of mouth Short palm Polymicrogyria Arachnodactyly Infertility Genu valgum Carious teeth Naevus flammeus of the eyelid Nephroblastomatosis Abnormality of the philtrum Flat face Tall stature Renal dysplasia Status epilepticus Cardiomegaly Congenital diaphragmatic hernia Overgrowth Round face Macroglossia Ascites Hydronephrosis Tented upper lip vermilion Deeply set eye Hepatosplenomegaly High forehead Posteriorly rotated ears Agenesis of corpus callosum Cerebral atrophy Macrocephaly Wide nasal bridge Intermittent hyperventilation Multiple pterygia Bilateral single transverse palmar creases Growth abnormality Thymus hyperplasia Hypoxemia Fetal ascites Abnormality of upper lip Lumbar scoliosis Long upper lip Broad alveolar ridges Intestinal atresia Femoral hernia Interrupted aortic arch Visceromegaly Thickened helices Volvulus Polycystic kidney dysplasia Thick upper lip vermilion Renal neoplasm Polysplenia Capillary hemangioma Enlarged kidney Hamartoma Neurodevelopmental delay Global brain atrophy Large for gestational age Nephroblastoma Subacute progressive viral hepatitis



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