Cryptorchidism, and Immunodeficiency

Diseases related with Cryptorchidism and Immunodeficiency

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

Top matches:

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 51; MRD51

Immunodeficiency-centromeric instability-facial anomalies syndrome-3 is an autosomal recessive disorder characterized by recurrent infections in childhood and variable dysmorphic facial features. Laboratory studies show hypomethylation of certain chromosomal regions. Additional features, including delayed development, are variable (summary by Thijssen et al., 2015).For a discussion of genetic heterogeneity of immunodeficiency-centromeric instability-facial anomalies syndrome, see ICF1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 3; ICF3

NPHS14 is an autosomal recessive syndromic form of steroid-resistant nephrotic syndrome with multisystemic manifestations. Most affected individuals present in infancy or early childhood with progressive renal dysfunction associated with focal segmental glomerulosclerosis (FSGS) and resulting in end-stage renal disease within a few years. Other infants present with primary adrenal insufficiency. Some patients present in utero with fetal hydrops and fetal demise. Additional features of the disorder can include ichthyosis, acanthosis, adrenal insufficiency, immunodeficiency, and neurologic defects (summary by Prasad et al., 2017 and Lovric et al., 2017).For a discussion of genetic heterogeneity of nephrotic syndrome and FSGS, see NPHS1 (OMIM ).

FAMILIAL STEROID-RESISTANT NEPHROTIC SYNDROME WITH ADRENAL INSUFFICIENCY Is also known as primary adrenal insufficiency-steroid-resistant nephrotic syndrome due to sgpl1 deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about FAMILIAL STEROID-RESISTANT NEPHROTIC SYNDROME WITH ADRENAL INSUFFICIENCY

Other less relevant matches:

Medium match LIG4 SYNDROME

LIG4 syndrome is a hereditary disorder associated with impaired DNA double-strand break repair mechanisms and characterized by microcephaly, unusual facial features, growth and developmental delay, skin anomalies, and pancytopenia, which is associated with combined immunodeficiency (CID).

LIG4 SYNDROME Is also known as dna ligase iv deficiency|ligase 4 syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Growth delay
  • Micrognathia


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about LIG4 SYNDROME

Medium match ICF SYNDROME

The Immunodeficiency, Centromeric region instability, Facial anomalies syndrome (ICF) is a rare autosomal recessive disease characterized by immunodeficiency, although B cells are present, and by characteristic rearrangements in the vicinity of the centromeres (the juxtacentromeric heterochromatin) of chromosomes 1 and 16 and sometimes 9.

ICF SYNDROME Is also known as centromeric instability, immunodeficiency syndrome|immune deficiency, variable, with centromeric instability of chromosomes 1, 9, and 16|ciid|immunodeficiency-centromeric instability-facial anomalies syndrome|immunodeficiency syndrome, variable

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ICF SYNDROME

Sanjad-Sakati syndrome (SSS), also known as hypoparathyroidism - intellectual disability-dysmorphism, is a rare multiple congenital anomaly syndrome, mainly occurring in the Middle East and the Arabian Gulf countries, characterized by intrauterine growth restriction at birth, microcephaly, congenital hypoparathyroidism (that can cause hypocalcemic tetany or seizures in infancy), severe growth retardation, typical facial features (long narrow face, deep-set eyes, beaked nose, floppy and large ears, long philtrum, thin lips and micrognathia), and mild to moderate intellectual deficiency. Ocular findings (i.e. nanophthalmos, retinal vascular tortuosity and corneal opacification/clouding) and superior mesenteric artery syndrome have also been reported. Although SSS shares the same locus with the autosomal recessive form of Kenny-Caffey syndrome (see this term), the latter differs from SSS by its normal intelligence and skeletal features.

SANJAD-SAKATI SYNDROME Is also known as richardson-kirk syndrome|hrd syndrome|sanjad-sakati syndrome|hypoparathyroidism-intellectual disability-dysmorphism syndrome|hypoparathyroidism, congenital, associated with dysmorphism, growth retardation, and developmental delay|sss|hypoparathyroidism wi

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about SANJAD-SAKATI SYNDROME

Mosaic variegated aneuploidy is an autosomal recessive disorder characterized by mosaic aneuploidies, predominantly trisomies and monosomies, involving multiple different chromosomes and tissues. The proportion of aneuploid cells varies but is usually more than 25% and is substantially greater than in normal individuals. Affected individuals typically present with severe intrauterine growth retardation and microcephaly. Eye anomalies, mild dysmorphism, variable developmental delay, and a broad spectrum of additional congenital abnormalities and medical conditions may also occur. The risk of malignancy is high, with rhabdomyosarcoma, Wilms tumor, and leukemia reported in several cases (summary by Hanks et al., 2004). Genetic Heterogeneity of Mosaic Variegated Aneuploidy SyndromeSee also MVA2 (OMIM ), caused by mutation in the CEP57 gene (OMIM ) on chromosome 11q21, and MVA3 (OMIM ), caused by mutation in the TRIP13 gene (OMIM ) on chromosome 5p15.

MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1; MVA1 Is also known as mva syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1; MVA1

Medium match BLOOM SYNDROME

Bloom syndrome (BSyn) is a rare chromosomal breakage syndrome characterized by a marked genetic instability associated with pre- and postnatal growth retardation, facial sun-sensitive telangiectatic erythema, increased susceptibility to infections, and predisposition to cancer.

BLOOM SYNDROME Is also known as bls|microcephaly, growth restriction, and increased sister chromatid exchange 1|bs|bsyn|mgrisce1

Related symptoms:

  • Short stature
  • Microcephaly
  • Growth delay
  • Neoplasm
  • Failure to thrive


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about BLOOM SYNDROME

Fraser syndrome is an autosomal recessive malformation disorder characterized by cryptophthalmos, syndactyly, and abnormalities of the respiratory and urogenital tract (summary by van Haelst et al., 2008). Genetic Heterogeneity of Fraser SyndromeFraser syndrome-2 (FRASRS2) is caused by mutation in the FREM2 gene (OMIM ) on chromosome 13q13, and Fraser syndrome-3 (FRASRS3) is caused by mutation in the GRIP1 gene (OMIM ) on chromosome 12q14.See Bowen syndrome (OMIM ) for a comparable but probably distinct syndrome of multiple congenital malformations.

FRASER SYNDROME 1; FRASRS1 Is also known as cryptophthalmos with other malformations|fraser syndrome|cryptophthalmos-syndactyly syndrome

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Microcephaly
  • Hypertelorism
  • Cleft palate


SOURCES: OMIM MENDELIAN

More info about FRASER SYNDROME 1; FRASRS1

ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 1; EEC1 Is also known as eec|eec syndrome 1

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Microcephaly
  • Hypertelorism
  • Cleft palate


SOURCES: OMIM MENDELIAN

More info about ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 1; EEC1

Top 5 symptoms//phenotypes associated to Cryptorchidism and Immunodeficiency

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Recurrent infections Uncommon - Between 30% and 50% cases
Low-set ears Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Micrognathia Hypertelorism Growth delay Micropenis Abnormal facial shape Epicanthus Recurrent respiratory infections Malar flattening Posteriorly rotated ears Depressed nasal bridge Short stature Polydactyly Hypospadias Generalized hypotonia Short nose Seizures Hearing impairment Intrauterine growth retardation Small for gestational age Syndactyly Cleft palate Postnatal growth retardation Leukemia High forehead Oligohydramnios Combined immunodeficiency Acute leukemia Decreased antibody level in blood Failure to thrive Abnormality of chromosome stability Wide nasal bridge Conductive hearing impairment Ventriculomegaly

Rare Symptoms - Less than 30% cases

Flat face Anemia Wide nose Microtia Abnormality of the foot Telangiectasia of the skin Hand polydactyly Ambiguous genitalia Cutaneous photosensitivity Telangiectasia Type II diabetes mellitus Hypoplasia of penis Lymphoma Thin vermilion border Malabsorption Erythema Telecanthus Brachycephaly Anteverted nares Diarrhea Clinodactyly of the 5th finger Long philtrum Severe intrauterine growth retardation Delayed speech and language development Corneal opacity Urethral atresia Severe short stature Delayed skeletal maturation Microphthalmia Abnormality of the dentition Pneumonia Neoplasm Macrocephaly Cellular immunodeficiency Hydrocephalus Sinusitis Bronchiectasis Otitis media Frontal bossing Upslanted palpebral fissure Myelodysplasia Cleft upper lip Renal agenesis Abnormality of the nervous system Pulmonary hypoplasia Ichthyosis Anal atresia Hypothyroidism Respiratory tract infection Lymphopenia Hypocalcemia Recurrent bacterial infections Hypogonadism Finger syndactyly Cleft lip Agammaglobulinemia Growth hormone deficiency Strabismus Abnormality of the urinary system Difficulty in tongue movements Bicornuate uterus Vaginal atresia Gonadoblastoma Morphological abnormality of the middle ear Bilateral microphthalmos Aplasia/Hypoplasia of the phalanges of the hand Subglottic stenosis Bilateral renal agenesis Abnormality of the pinna Laryngeal web Abnormality of the anus Facial telangiectasia in butterfly midface distribution Cryptophthalmos Laryngeal stenosis Upper eyelid coloboma Neoplasm of the gastrointestinal tract Agenesis of maxillary lateral incisor Hypoplastic pelvis Cleft ala nasi Abnormal heart morphology Blindness High palate Abnormality of the thymus Abnormality of the nares Aplasia/Hypoplasia of the thumb Myelomeningocele Abnormal cortical gyration Decreased fertility in females Absent eyebrow Anophthalmia Spotty hypopigmentation Cupped ear Gonadal dysgenesis Clitoral hypertrophy Atresia of the external auditory canal Facial cleft Renal hypoplasia/aplasia Cutaneous syndactyly Dental crowding Female infertility Spotty hyperpigmentation Encephalocele Renal hypoplasia Calvarial skull defect Anal stenosis Foot polydactyly Absent eyelashes Postaxial foot polydactyly IgM deficiency Abnormality of the nose Wide intermamillary distance Chronic obstructive pulmonary disease Underdeveloped nasal alae Dental malocclusion Chronic lung disease Postaxial polydactyly Cutaneous finger syndactyly Choanal stenosis Hypoplastic superior helix Microdontia Lacrimal duct aplasia Blepharitis Generalized hypopigmentation Anodontia Fair hair Blue irides Depressed nasal tip Bilateral cleft lip Split foot Xerostomia Heat intolerance Hypoplastic nipples Ectrodactyly Hypopituitarism Absent septum pellucidum Hydroureter Epiphora Keratitis Sparse axillary hair Dysuria Abnormality of the genitourinary system Abnormality of the nasopharynx Absence of Stensen duct Transverse vaginal septum Abnormal salivary gland morphology Dacryocystitis Semilobar holoprosencephaly Ureterocele Nail pits Duplicated collecting system Rectovaginal fistula Nasolacrimal duct obstruction Selective tooth agenesis Central diabetes insipidus Bladder diverticulum Recurrent corneal erosions Hypoplasia of the thymus Sparse pubic hair Preaxial polydactyly Oligodontia Midline nasal groove Fever Short philtrum Blepharophimosis Hydronephrosis Photophobia Hyperkeratosis Alopecia Inguinal hernia Abnormality of the umbilicus Toe syndactyly Aplasia/Hypoplasia of the sternum Malformed lacrimal duct Extension of hair growth on temples to lateral eyebrow Laryngeal atresia Abnormality of the small intestine Severe T-cell immunodeficiency Wide pubic symphysis Carious teeth Oral cleft Sparse eyelashes Thin skin Conjunctivitis Hypogonadotrophic hypogonadism Sparse and thin eyebrow Hypohidrosis Renal dysplasia Abnormality of the genital system Omphalocele Split hand Hypoplasia of the maxilla Choanal atresia Sparse scalp hair Hypoplasia of the zygomatic bone Nail dysplasia Ectodermal dysplasia Vesicoureteral reflux Broad nasal tip Hypodontia Chromosome breakage Intellectual disability, profound IgG deficiency Leukocytosis Umbilical hernia Large beaked nose Bird-like facies Abnormality of bone marrow cell morphology Severe combined immunodeficiency Biparietal narrowing Psoriasiform dermatitis Macroglossia Low anterior hairline Pancytopenia Lymphadenopathy Thrombocytopenia Abnormality of the skeletal system Hepatomegaly Neurodegeneration Sepsis Congenital nephrotic syndrome Impaired T cell function Muscular hypotonia of the trunk Deeply set eye Thin upper lip vermilion Prominent forehead Myopathy Hypoplasia of the corpus callosum Abnormality of neutrophils Recurrent pneumonia Decrease in T cell count Chronic bronchitis Communicating hydrocephalus Shawl scrotum Protruding tongue Bronchitis Malnutrition Absent testis Steroid-resistant nephrotic syndrome Astigmatism Scoliosis Ptosis Sensorineural hearing impairment Ataxia Hypoplastic ischia Tapetoretinal degeneration Recurrent upper respiratory tract infections Tall stature Edema Febrile seizures Facial asymmetry Autistic behavior Proptosis Autism Absent speech Motor delay Peripheral neuropathy Hypoglycemia Diffuse mesangial sclerosis Hypoalbuminemia Primary hypothyroidism Primary adrenal insufficiency Adrenal insufficiency Focal segmental glomerulosclerosis Focal impaired awareness seizure Glomerulosclerosis Hypertriglyceridemia Proteinuria Epidermal acanthosis Nephrotic syndrome Focal-onset seizure Stage 5 chronic kidney disease Retinopathy Developmental regression Mental deterioration Low-set, posteriorly rotated ears Short palm Hodgkin lymphoma Hypodysplasia of the corpus callosum Skin rash Protruding ear Diabetes mellitus Hyperhidrosis Intellectual disability, mild Cardiomyopathy Embryonal rhabdomyosarcoma Infertility Premature chromatid separation Cerebral hypoplasia Triangular mouth Rhabdomyosarcoma Short sternum Mild microcephaly Multiple renal cysts Dolichocephaly Prominent nose Bifid scrotum Reduced number of teeth IgA deficiency Acute myeloid leukemia Myeloid leukemia Pulmonary fibrosis High pitched voice Squamous cell carcinoma Hypopigmented skin patches Abnormality of the skin Sacral dimple Azoospermia Narrow face Cafe-au-lait spot Abnormality of the face Hypertrichosis Specific learning disability Acute lymphoblastic leukemia Nephroblastoma Small hand Hypoparathyroidism Congenital hypoparathyroidism Hypocalcemic seizures Aplasia/Hypoplasia affecting the eye Tetany Decreased circulating cortisol level Hyperphosphatemia External ear malformation Nystagmus Spinal canal stenosis Intestinal obstruction Abnormality of dental enamel Convex nasal ridge Delayed myelination Bifid uvula Short foot Patchy osteosclerosis Cataract Limb-girdle muscular dystrophy Renal cyst Sarcoma Hyperpigmentation of the skin Primary amenorrhea Amenorrhea Dandy-Walker malformation Generalized myoclonic seizures Generalized tonic-clonic seizures Short neck Severe global developmental delay Muscular dystrophy Feeding difficulties in infancy Agenesis of corpus callosum Cerebellar hypoplasia Clinodactyly Midface retrusion Slow-growing scalp hair


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