Immunodeficiency, and Micropenis

Diseases related with Immunodeficiency and Micropenis

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

Top matches:

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

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

High match ALG12-CDG

ALG12-CDG is a form of congenital disorders of N-linked glycosylation characterized by facial dysmorphism (prominent forehead, large ears, thin upper lip), generalized hypotonia, feeding difficulties, moderate to severe developmental delay, progressive microcephaly, frequent upper respiratory tract infections due to impaired immunity with decreased immunoglobulin levels, and decreased coagulation factors. Additional features include hypogonadism with or without hypospadias in males, skeletal anomalies, seizures and cardiac anomalies in some cases. ALG12-CDG is caused by loss of function mutations of the gene ALG12 (22q13.33).

ALG12-CDG Is also known as cdg1g|mannosyltransferase 8 deficiency|congenital disorder of glycosylation type ig|cdgig|cdg ig|carbohydrate deficient glycoprotein syndrome type ig|cdg syndrome type ig|congenital disorder of glycosylation type 1g|cdg-ig

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about ALG12-CDG

Other less relevant matches:

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

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

X-linked intellectual disability, Cabezas type is characterised by intellectual deficit, muscle wasting, short stature, a prominent lower lip, small testes, kyphosis and joint hyperextensibility. An abnormal gait, tremor, decreased fine motor coordination and impaired speech are also present. The syndrome has been described in six boys from three generations of the same family. Transmission is X-linked and the causative gene has been localised to the q24-q25 region of the X chromosome.

X-LINKED INTELLECTUAL DISABILITY, CABEZAS TYPE Is also known as cabezas syndrome|mrss|mrxs15|mental retardation, x-linked, with short stature|mental retardation, x-linked, with short stature, hypogonadism, and abnormal gait|mental retardation, x-linked, syndromic 15

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY, CABEZAS TYPE

The proximal 16p11.2 microdeletion syndrome is a chromosomal anomaly characterized by developmental and language delays, mild intellectual disability, social impairments (autism spectrum disorders), mild variable dysmorphism and predisposition to obesity.

PROXIMAL 16P11.2 MICRODELETION SYNDROME Is also known as proximal del(16)(p11.2)|proximal monosomy 16p11.2

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Scoliosis


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about PROXIMAL 16P11.2 MICRODELETION SYNDROME

In patients with SSMED, short stature and microcephaly are apparent at birth, and there is progressive postnatal growth failure. Endocrine dysfunction, including hypergonadotropic hypogonadism, multinodular goiter, and diabetes mellitus, is present in affected adults. Progressive ataxia has been reported in some patients, with onset ranging from the second to fifth decade of life. In addition, a few patients have developed tumors, suggesting that there may be a predisposition to tumorigenesis. In contrast to syndromes involving defects in other components of the nonhomologous end-joining (NHEJ) complex (see, e.g., {606593}), no clinically overt immunodeficiency has been observed in SSMED, although laboratory analysis has revealed lymphopenia or borderline leukopenia in some patients (Murray et al., 2015; Bee et al., 2015; de Bruin et al., 2015; Guo et al., 2015).

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION; SSMED

Top 5 symptoms//phenotypes associated to Immunodeficiency and Micropenis

Symptoms // Phenotype % cases
Microcephaly Very Common - Between 80% and 100% cases
Cryptorchidism Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Hearing impairment Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Growth delay

Uncommon Symptoms - Between 30% and 50% cases

Intrauterine growth retardation

Common Symptoms - More than 50% cases

Global developmental delay

Uncommon Symptoms - Between 30% and 50% cases

Hypertelorism Abnormal facial shape Ventriculomegaly Generalized hypotonia Low-set ears Abnormality of the pinna Inguinal hernia Short philtrum Cleft palate Hypospadias Renal agenesis Micrognathia Small for gestational age Short stature Hypogonadism Depressed nasal bridge Deeply set eye High forehead Long philtrum Hypoplasia of the corpus callosum Wide nasal bridge Posteriorly rotated ears Sensorineural hearing impairment Midface retrusion Oligohydramnios Polydactyly Muscular hypotonia Cognitive impairment Small hand Hydrocephalus Recurrent respiratory infections Malar flattening Short neck Severe intrauterine growth retardation Postnatal growth retardation Hypocalcemia Microphthalmia Strabismus Delayed speech and language development Recurrent infections Cortical gyral simplification Combined immunodeficiency Obesity Blepharophimosis

Rare Symptoms - Less than 30% cases

Broad nasal tip Short nose Behavioral abnormality Gait disturbance Epicanthus Cataract Tremor Neoplasm Nystagmus Hand polydactyly Hypoplasia of penis Scoliosis Convex nasal ridge Growth hormone deficiency Pes cavus Long nose Short foot Toe syndactyly Short palm Macrocephaly Corneal opacity Motor delay Unilateral renal agenesis Acanthosis nigricans Abnormality of the urinary system Syndactyly Renal hypoplasia Anophthalmia Truncal obesity Underdeveloped nasal alae Narrow palpebral fissure Severe short stature Pulmonary hypoplasia Cleft upper lip Anal atresia Cleft lip Conductive hearing impairment Broad-based gait High palate Hyperactivity Multiple renal cysts Ambiguous genitalia Decreased testicular size Hernia Synophrys Wide mouth EEG abnormality Renal cyst Wide nose Urethral atresia Attention deficit hyperactivity disorder Clinodactyly Mandibular prognathia Cerebellar vermis atrophy Anteverted nares Severe combined immunodeficiency Edema Sandal gap Hypothyroidism Sepsis Abnormality of the genital system Limb undergrowth Severe global developmental delay Blindness Prominent forehead Peripheral neuropathy Short chin Cardiomyopathy Ptosis Ataxia Feeding difficulties Thin upper lip vermilion Failure to thrive Recurrent bacterial infections Lymphopenia Retinopathy Epidermal acanthosis Postural tremor Intention tremor Gait ataxia Thick lower lip vermilion Hyperhidrosis Short thumb Pes planus Gynecomastia Clinodactyly of the 5th finger Abnormality of lipid metabolism Absent speech Dysdiadochokinesis Coarse facial features Bulbous nose Joint hypermobility Polymicrogyria Joint hyperflexibility Delayed puberty Sensory axonal neuropathy Neurological speech impairment Camptodactyly of finger High pitched voice Kyphosis Interphalangeal joint contracture of finger Joint laxity Aggressive behavior Ectopic kidney Macroglossia Prominent nose Memory impairment Bilateral cryptorchidism Intellectual disability, moderate Optic nerve coloboma Increased circulating gonadotropin level Heat intolerance Selective tooth agenesis Central diabetes insipidus Bladder diverticulum Recurrent corneal erosions Hypoplasia of the thymus Sparse pubic hair Rectovaginal fistula Dysuria Sparse axillary hair Duplicated collecting system Generalized hypopigmentation Anodontia Gastrointestinal stroma tumor Fair hair Blue irides Depressed nasal tip Bilateral cleft lip Split foot Nasolacrimal duct obstruction Abnormality of the nasopharynx Hypertonia Chronic lung disease Intellectual disability, severe Low hanging columella Relative macrocephaly Downslanted palpebral fissures Misalignment of teeth Shuffling gait Skeletal muscle atrophy Brachydactyly Glioma Nail pits Multinodular goiter Slow-growing scalp hair Absence of Stensen duct Transverse vaginal septum Abnormal salivary gland morphology Dacryocystitis Semilobar holoprosencephaly Ureterocele Slurred speech Cortical dysplasia Cachexia Hypermetropia Hemivertebrae Pointed chin Short toe Psychosis Congenital diaphragmatic hernia Tapered finger Flat face Smooth philtrum Dysmetria Dilated cardiomyopathy Long face Xerostomia Falls Sensory neuropathy Talipes Broad forehead Coloboma Autistic behavior Microretrognathia Aortic regurgitation Gastroesophageal reflux Dysarthria Chorioretinitis Hydrocele testis Missing ribs Widely-spaced maxillary central incisors Absent nasal bridge Anemia Arnold-Chiari type I malformation Syringomyelia Thrombocytopenia Pyloric stenosis Babinski sign Diabetes mellitus Rigidity Sparse hair Abnormal pyramidal sign Prominent nasal bridge Language impairment Bilateral ptosis Macrotia Autism Goiter Abnormal lung morphology Restlessness Bradykinesia Sloping forehead Striae distensae Hypotelorism Apraxia Cutaneous photosensitivity Biparietal narrowing Insulin resistance Down-sloping shoulders Hypergonadotropic hypogonadism Abnormality of the musculature Bone marrow hypocellularity Leukopenia Pulmonary artery atresia Open bite Large hands Cubitus valgus Scaphocephaly Distal lower limb amyotrophy Polyneuropathy Hypertension Dilatation Intellectual disability, mild Triangular face Progressive cerebellar ataxia Congestive heart failure Atrial septal defect Respiratory insufficiency Myopia Abnormality of toe Abnormal hair pattern Moderately short stature Mood swings Small earlobe Pigmentary retinopathy Abnormality of earlobe Abdominal obesity Panhypopituitarism Tics Blepharitis Hypoplastic superior helix Hypoplastic nipples Intestinal obstruction Cellular immunodeficiency Aplasia/Hypoplasia affecting the eye Tetany Decreased circulating cortisol level Hyperphosphatemia Hypoparathyroidism External ear malformation Spinal canal stenosis Abnormality of dental enamel Congenital hypoparathyroidism Delayed myelination Bifid uvula Thin vermilion border Astigmatism Low-set, posteriorly rotated ears Muscular hypotonia of the trunk Delayed skeletal maturation Abnormality of the dentition Myopathy Hypocalcemic seizures Patchy osteosclerosis Butterfly vertebrae Intellectual disability, profound Acute leukemia Acute lymphoblastic leukemia Bifid scrotum Nephroblastoma Limb-girdle muscular dystrophy Myelodysplasia Sarcoma Hyperpigmentation of the skin Primary amenorrhea Amenorrhea Cerebellar hypoplasia Dandy-Walker malformation Generalized myoclonic seizures Generalized tonic-clonic seizures Muscular dystrophy Leukemia Feeding difficulties in infancy Brachycephaly Upslanted palpebral fissure Agenesis of corpus callosum Frontal bossing Generalized edema Short sternum Proteinuria Hypoalbuminemia Hypertriglyceridemia Nephrotic syndrome Focal-onset seizure Stage 5 chronic kidney disease Ichthyosis Developmental regression Mental deterioration Abnormality of the nervous system Hypoglycemia Focal impaired awareness seizure Recurrent aphthous stomatitis Overlapping fingers Recurrent lower respiratory tract infections Severe vision loss CNS hypomyelination Pachygyria Cerebellar vermis hypoplasia Brain atrophy Visual impairment Glomerulosclerosis Focal segmental glomerulosclerosis Prolonged partial thromboplastin time Rhizomelia Short femur Short tibia IgG deficiency Abnormality of immune system physiology Short humerus Epiphyseal dysplasia Hypoplasia of the radius Scrotal hypoplasia Progressive microcephaly Decreased antibody level in blood Adrenal insufficiency Respiratory tract infection Skeletal dysplasia Talipes equinovarus Absent testis Congenital nephrotic syndrome Steroid-resistant nephrotic syndrome Diffuse mesangial sclerosis Primary hypothyroidism Primary adrenal insufficiency Mild microcephaly Rhabdomyosarcoma Ectrodactyly Hyperkeratosis Hypoplasia of the maxilla Oral cleft Abnormality of the foot Carious teeth Microtia Telecanthus Hydronephrosis Photophobia Alopecia Vesicoureteral reflux Fever Abnormality of the umbilicus 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 Hypodontia Ectodermal dysplasia Lacrimal duct aplasia Conjunctivitis Hypopituitarism Absent septum pellucidum Hydroureter Epiphora Keratitis Preaxial polydactyly Abnormality of the genitourinary system Oligodontia Sparse eyelashes Hypogonadotrophic hypogonadism Nail dysplasia Sparse and thin eyebrow Hypohidrosis Renal dysplasia Omphalocele Thin skin Split hand Choanal atresia Sparse scalp hair Microdontia Midline nasal groove Morphological abnormality of the middle ear Triangular mouth Dental crowding Gonadal dysgenesis Aplasia/Hypoplasia of the thumb Cutaneous finger syndactyly Absent eyebrow Cupped ear Clitoral hypertrophy Atresia of the external auditory canal Renal hypoplasia/aplasia Cutaneous syndactyly Encephalocele Anal stenosis Wide intermamillary distance Dental malocclusion Postaxial polydactyly Finger syndactyly Abnormal heart morphology Hypodysplasia of the corpus callosum Embryonal rhabdomyosarcoma Premature chromatid separation Cerebral hypoplasia Facial cleft Foot polydactyly Aplasia/Hypoplasia of the phalanges of the hand Bilateral renal agenesis Laryngeal web Cryptophthalmos Cleft ala nasi Difficulty in tongue movements Abnormality of the nares Abnormality of the thymus Upper eyelid coloboma Laryngeal stenosis Abnormality of the anus Subglottic stenosis Absent eyelashes Bilateral microphthalmos Gonadoblastoma Vaginal atresia Bicornuate uterus Abnormal cortical gyration Calvarial skull defect Choanal stenosis Myelomeningocele Postaxial foot polydactyly Long neck


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