Immunodeficiency, and Ambiguous genitalia

Diseases related with Immunodeficiency and Ambiguous genitalia

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

Top matches:

Related symptoms:

  • Global developmental delay
  • Short stature
  • Microcephaly
  • Growth delay
  • Failure to thrive


SOURCES: OMIM MENDELIAN

More info about SECKEL SYNDROME 9; SCKL9

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

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

Other less relevant matches:

Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete interleukin-12 subunit beta (IL12B) deficiency is a genetic variant of MSMD (see this term) characterized by mild bacillus Calmette-Guérin (BCG) infections and recurrent Salmonella infections.

MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASES DUE TO COMPLETE IL12B DEFICIENCY Is also known as mendelian susceptibility to mycobacterial diseases due to complete interleukin 12b deficiency|msmd due to complete interleukin 12b deficiency|msmd due to complete il12b deficiency|il12b deficiency

Related symptoms:

  • Immunodeficiency
  • Lymphadenopathy


SOURCES: ORPHANET OMIM MENDELIAN

More info about MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASES DUE TO COMPLETE IL12B DEFICIENCY

IMMUNODEFICIENCY, COMMON VARIABLE, 5; CVID5 Is also known as antibody deficiency due to cd20 defect

Related symptoms:

  • Immunodeficiency
  • Recurrent respiratory infections
  • Respiratory tract infection
  • Decreased antibody level in blood
  • Recurrent bacterial infections


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY, COMMON VARIABLE, 5; CVID5

Related symptoms:

  • Respiratory distress
  • Immunodeficiency


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY 39; IMD39

Mendelian susceptibility to mycobacterial diseases (MSMD) due to partial IRF8 (interferon regulatory factor 8) deficiency is a rare genetic variant of MSMD (see this term) characterized by a selective susceptibility to relatively mild infections with bacillus Calmette-Guérin (BCG)..

MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASES DUE TO PARTIAL IRF8 DEFICIENCY Is also known as msmd due to partial interferon regulatory factor 8 deficiency|msmd due to partial irf8 deficiency|irf8 deficiency, autosomal dominant|mendelian susceptibility to mycobacterial diseases due to partial interferon regulatory factor 8 deficiency|immunodeficie

Related symptoms:

  • Fever
  • Immunodeficiency
  • Recurrent infections
  • Lymphadenopathy
  • Abnormality of immune system physiology


SOURCES: OMIM ORPHANET MENDELIAN

More info about MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASES DUE TO PARTIAL IRF8 DEFICIENCY

Pyogenic bacterial infection due to MyD88 deficiency is a primary immunodeficiency characterized by increased susceptibility to pyogenic bacterial infections, including invasive pneumococcal, invasive staphylococcal and pseudomonas disease.

PYOGENIC BACTERIAL INFECTIONS DUE TO MYD88 DEFICIENCY Is also known as myd88 deficiency|pyogenic bacterial infections, recurrent, due to myd88 deficiency|recurrent pyogenic bacterial infections due to myd88 deficiency

Related symptoms:

  • Fever
  • Immunodeficiency
  • Recurrent bacterial skin infections


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about PYOGENIC BACTERIAL INFECTIONS DUE TO MYD88 DEFICIENCY

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

Severe combined immunodeficiency (SCID) due to DNA-PKcs deficiency is an extremely rare type of SCID (see this term) characterized by the classical signs of SCID (severe and recurrent infections, diarrhea, failure to thrive), absence of T and B lymphocytes, and cell sensitivity to ionizing radiation.

SEVERE COMBINED IMMUNODEFICIENCY DUE TO DNA-PKCS DEFICIENCY Is also known as scid due to dna-pkcs deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Microcephaly
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about SEVERE COMBINED IMMUNODEFICIENCY DUE TO DNA-PKCS DEFICIENCY

Top 5 symptoms//phenotypes associated to Immunodeficiency and Ambiguous genitalia

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

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Cryptorchidism Intrauterine growth retardation Seizures Wide nasal bridge Ventriculomegaly Micropenis

Rare Symptoms - Less than 30% cases

Cleft palate Generalized hypotonia Abnormal facial shape Hypertelorism Recurrent lower respiratory tract infections Depressed nasal bridge Hypospadias Epicanthus Hydrocephalus Long philtrum Clitoral hypertrophy Posteriorly rotated ears Lymphadenopathy Wide nose Oligohydramnios Combined immunodeficiency Hearing impairment Short stature Cortical gyral simplification Fever Micrognathia Respiratory distress Pachygyria Small for gestational age Recurrent respiratory infections Laryngeal stenosis Vaginal atresia Gonadoblastoma Bilateral microphthalmos Subglottic stenosis Bilateral renal agenesis Abnormality of the anus Abnormality of the thymus Upper eyelid coloboma Abnormal cortical gyration Severe combined immunodeficiency Abnormality of the nares Urethral atresia Difficulty in tongue movements Cleft ala nasi Cryptophthalmos Laryngeal web Bicornuate uterus Microtia Calvarial skull defect Aplasia/Hypoplasia of the thumb Cutaneous syndactyly Renal hypoplasia/aplasia Abnormality of the urinary system Atresia of the external auditory canal Cupped ear Anophthalmia Absent eyebrow Cutaneous finger syndactyly Gonadal dysgenesis Morphological abnormality of the middle ear Facial cleft Anal stenosis Foot polydactyly Absent eyelashes Postaxial foot polydactyly Overlapping fingers Myelomeningocele Choanal stenosis Aplasia/Hypoplasia of the phalanges of the hand Lacrimal duct aplasia Severe vision loss Visual impairment Delayed speech and language development Motor delay Deeply set eye Thin upper lip vermilion Prominent forehead Macrocephaly Hypoplasia of the corpus callosum Frontal bossing Recurrent bacterial skin infections Absent speech Sensorineural hearing impairment Tall stature Febrile seizures Autism Proptosis Facial asymmetry Autistic behavior Sepsis Brain atrophy Hypoplastic superior helix Aplasia/Hypoplasia of the sternum Abnormality of the foot Midline nasal groove Wide pubic symphysis Severe T-cell immunodeficiency Abnormality of the small intestine Laryngeal atresia Extension of hair growth on temples to lateral eyebrow Malformed lacrimal duct Abnormality of the umbilicus Abnormality of immune system physiology CNS hypomyelination Short chin Respiratory tract infection Decreased antibody level in blood Recurrent bacterial infections Encephalocele Cerebellar vermis hypoplasia Recurrent infections Dental crowding Syndactyly Renal hypoplasia Midface retrusion Nystagmus Neoplasm Cataract Anteverted nares Short neck Short nose Malar flattening Clinodactyly Chronic lung disease Cerebellar hypoplasia Agenesis of corpus callosum Upslanted palpebral fissure Brachycephaly High forehead Feeding difficulties in infancy Postnatal growth retardation Leukemia Pulmonary artery hypoplasia Scaphocephaly Severe global developmental delay Abnormal cardiac septum morphology Failure to thrive Ventricular septal defect Talipes equinovarus Atrial septal defect Hernia Respiratory failure Polyhydramnios Protruding ear Long face Multicystic kidney dysplasia Asthma Convex nasal ridge Decreased fetal movement Congenital diaphragmatic hernia Hypertrichosis Abnormal lung morphology Recurrent urinary tract infections Narrow face Muscular dystrophy Generalized tonic-clonic seizures Renal agenesis Abnormality of the pinna Hypodysplasia of the corpus callosum High palate Blindness Microphthalmia Abnormal heart morphology Polydactyly Conductive hearing impairment Cleft lip Corneal opacity Premature chromatid separation Finger syndactyly Anal atresia Cleft upper lip Pulmonary hypoplasia Postaxial polydactyly Dental malocclusion Underdeveloped nasal alae Wide intermamillary distance Embryonal rhabdomyosarcoma Cerebral hypoplasia Renal cyst Limb-girdle muscular dystrophy Generalized myoclonic seizures Dandy-Walker malformation Amenorrhea Intellectual disability, profound Primary amenorrhea Hyperpigmentation of the skin Sarcoma Myelodysplasia Nephroblastoma Triangular mouth Bifid scrotum Acute lymphoblastic leukemia Severe intrauterine growth retardation Multiple renal cysts Acute leukemia Mild microcephaly Short sternum Rhabdomyosarcoma Recurrent aphthous stomatitis


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