Immunodeficiency, and Renal cyst

Diseases related with Immunodeficiency and Renal cyst

In the following list you will find some of the most common rare diseases related to Immunodeficiency and Renal cyst 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

Syndromic diarrhea (SD), or tricho-hepato-enteric syndrome (THE), is a severe congenital enteropathy manifesting as intractable diarrhea in the first month of life with failure to thrive and associated with facial dysmorphism, hair abnormalities, and, in some cases, immune disorders and intrauterine growth restriction.

SYNDROMIC DIARRHEA Is also known as trichohepatoenteric syndrome|tricho-hepato-enteric syndrome|diarrhea, fatal infantile, with trichorrhexis nodosa|sd/the|the syndrome|phenotypic diarrhea|diarrhea, syndromic|syndromic diarrhea/tricho-hepato-enteric syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Growth delay
  • Hypertelorism


SOURCES: OMIM ORPHANET MENDELIAN

More info about SYNDROMIC DIARRHEA

Other less relevant matches:

Desbuquois dysplasia (DBQD) is an autosomal recessive chondrodysplasia belonging to the multiple dislocation group and characterized by severe prenatal and postnatal growth retardation (stature less than -5 SD), joint laxity, short extremities, and progressive scoliosis. The main radiologic features are short long bones with metaphyseal splay, a 'Swedish key' appearance of the proximal femur (exaggerated trochanter), and advanced carpal and tarsal bone age with a delta phalanx (summary by Huber et al., 2009).Desbuquois dysplasia is clinically and radiographically heterogeneous, and had been classified into 2 types based on the presence (type 1) or absence (type 2) of characteristic hand anomalies, including an extra ossification center distal to the second metacarpal, delta phalanx, bifid distal thumb phalanx, and dislocation of the interphalangeal joints (Faivre et al., 2004). However, patients with and without these additional hand anomalies have been reported to have mutations in the same gene (see, e.g., CANT1); thus, these features are not distinctive criteria to predict the molecular basis of DBQD (Furuichi et al., 2011). In addition, Kim et al. (2010) described another milder variant of DBQD with almost normal outwardly appearing hands, but significant radiographic changes, including short metacarpals, elongated phalanges, and remarkably advanced carpal bone age. However, there is no accessory ossification center distal to the second metacarpal, and patients do not have thumb anomalies. Similar changes occur in the feet. These patients also tend to develop precocious osteoarthritis of the hand and spine with age. This phenotype is sometimes referred to as the 'Kim variant' of DBQD (Furuichi et al., 2011). Genetic Heterogeneity of Desbuquois DysplasiaDBQD2 (OMIM ) is caused by mutation in the XYLT1 gene (OMIM ) on chromosome 16p12.Two unrelated patients with immunodeficiency-23 (IMD23 ), due to mutation in the PGM3 gene (OMIM ), were reported to have skeletal features reminiscent of DBQD.

DESBUQUOIS DYSPLASIA 1; DBQD1 Is also known as desbuquois syndrome|micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about DESBUQUOIS DYSPLASIA 1; DBQD1

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

Phelan-McDermid syndrome is a developmental disorder with variable features. Common features include neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, autistic behavior (see {209850}), and minor dysmorphic features (Precht et al., 1998; Prasad et al., 2000; Durand et al., 2007).

PHELAN-MCDERMID SYNDROME; PHMDS Is also known as chromosome 22q13.3 deletion syndrome|telomeric 22q13 monosomy syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about PHELAN-MCDERMID SYNDROME; PHMDS

Ichthyosis follicularis - alopecia - photophobia (IFAP) is a rare genetic disorder characterized by the triad of ichthyosis follicularis, alopecia, and photophobia from birth.

ICHTHYOSIS FOLLICULARIS-ALOPECIA-PHOTOPHOBIA SYNDROME Is also known as ichthyosis follicularis-atrichia-photophobia syndrome|ifap syndrome|ichthyosis follicularis, atrichia, and photophobia with or without brain anomalies, retardation, ectodermal dysplasia, skeletal malformations, hirschsprung disease, ear/eye anomalies, cle

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ICHTHYOSIS FOLLICULARIS-ALOPECIA-PHOTOPHOBIA SYNDROME

VELOCARDIOFACIAL SYNDROME Is also known as chromosome 22q11.2 deletion syndrome|shprintzen vcf syndrome|vcf syndrome|vcfs

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about VELOCARDIOFACIAL SYNDROME

22q11.2 deletion syndrome (DS) is a chromosomal anomaly which causes a congenital malformation disorder whose common features include cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency.

22Q11.2 DELETION SYNDROME Is also known as monosomy 22q11|digeorge sequence|sedlackova syndrome|takao syndrome|velocardiofacial syndrome|shprintzen syndrome|conotruncal anomaly face syndrome|digeorge syndrome|catch 22|cayler cardiofacial syndrome|microdeletion 22q11.2|22q11ds

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about 22Q11.2 DELETION SYNDROME

Proteus syndrome (PS) is a very rare and complex hamartomatous overgrowth disorder characterized by progressive overgrowth of the skeleton, skin, adipose, and central nervous systems.

PROTEUS SYNDROME Is also known as partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome|gigantism, partial, of hands and feet, nevi, hemihypertrophy, and macrocephaly

Related symptoms:

  • Intellectual disability
  • Seizures
  • Scoliosis
  • Hypertelorism
  • Nystagmus


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about PROTEUS SYNDROME

Top 5 symptoms//phenotypes associated to Immunodeficiency and Renal cyst

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Global developmental delay Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Intrauterine growth retardation

Uncommon Symptoms - Between 30% and 50% cases

Scoliosis

Common Symptoms - More than 50% cases

Abnormal facial shape

Uncommon Symptoms - Between 30% and 50% cases

Muscular hypotonia

Common Symptoms - More than 50% cases

Low-set ears

Uncommon Symptoms - Between 30% and 50% cases

Growth delay Ventriculomegaly Short neck Hypertelorism Micrognathia Cleft palate Obesity Anteverted nares Wide nasal bridge Ventricular septal defect Recurrent infections Atrial septal defect Malar flattening Hernia Behavioral abnormality Generalized hypotonia Failure to thrive Inguinal hernia Midface retrusion Cryptorchidism Depressed nasal bridge Epicanthus Strabismus Long philtrum Cataract Ptosis Cognitive impairment Hearing impairment Multicystic kidney dysplasia Macrotia Myopia Umbilical hernia Abnormality of the pinna Macrocephaly Feeding difficulties Delayed speech and language development Narrow mouth Intellectual disability, mild Microphthalmia Unilateral renal agenesis Thrombocytopenia Autism Downslanted palpebral fissures Gastroesophageal reflux Patent ductus arteriosus Constipation Anxiety Multiple renal cysts Respiratory distress Bulbous nose Hyperactivity Vesicoureteral reflux Renal dysplasia Tetralogy of Fallot Agenesis of corpus callosum Proptosis Nystagmus Specific learning disability Abnormality of cardiovascular system morphology Dilatation Kyphosis Arthritis Long face Glaucoma Abnormality of dental enamel Small for gestational age Polyhydramnios Abnormality of the hand Short nose Hypospadias Posteriorly rotated ears Talipes equinovarus Hydrocephalus Motor delay

Rare Symptoms - Less than 30% cases

Talipes Attention deficit hyperactivity disorder Narrow palpebral fissure Underdeveloped nasal alae Renal agenesis Psychosis Pointed chin Hemivertebrae Severe short stature Abnormal lung lobation Blepharophimosis Flat face Hand polydactyly Microretrognathia Nail dysplasia Round face Polydactyly Abdominal distention Smooth philtrum Autistic behavior Platyspondyly Joint stiffness Abnormality of the kidney Skeletal dysplasia EEG abnormality Kyphoscoliosis Varicose veins Deeply set eye Dolichocephaly Carious teeth Anal atresia Hypoplasia of the corpus callosum Intellectual disability, severe Dementia Purpura Hypocalcemia Hyperkeratosis Spina bifida Mental deterioration Open mouth Hip dislocation Autoimmunity Nasal speech Conductive hearing impairment Hypothyroidism Depressivity Fever Epidermal acanthosis Choanal atresia Aganglionic megacolon Abnormal vertebral morphology Abnormality of the nail Psoriasiform dermatitis Submucous cleft hard palate Schizophrenia Cholelithiasis Splenomegaly Intellectual disability, moderate Optic atrophy Pulmonary artery atresia Pain High palate Abnormality of the dentition Headache Absent speech Clinodactyly of the 5th finger Hydronephrosis Aggressive behavior Facial asymmetry Acne Impaired T cell function Seborrheic dermatitis Hypohidrosis Lymphedema Truncus arteriosus Meningocele Polycystic kidney dysplasia Hypoparathyroidism Bipolar affective disorder Posterior embryotoxon Heat intolerance Platybasia Abnormal eyelid morphology Anemia Neoplasm Ambiguous genitalia Congenital diaphragmatic hernia Primary amenorrhea Wide mouth Broad forehead Oligohydramnios Pulmonic stenosis Amenorrhea Dry skin Hepatic failure Bifid uvula Clinodactyly Asthma Cerebellar hypoplasia Upslanted palpebral fissure Wide nose Micropenis Depressed nasal ridge High forehead Feeding difficulties in infancy Postnatal growth retardation Chronic diarrhea Abnormality of the hair Aortic regurgitation Osteoporosis Respiratory tract infection Recurrent upper respiratory tract infections Recurrent respiratory infections Respiratory failure Bifid scrotum Abnormal thrombocyte morphology Diarrhea Combined immunodeficiency Edema Frontal bossing Abnormal heart morphology Protruding ear Severe intrauterine growth retardation Vitiligo Paranoia Retinal vascular tortuosity Giant platelets Autoimmune hemolytic anemia Axonal loss Aplasia of the thymus Epidermal nevus Metatarsus valgus Autoimmune thrombocytopenia Velopharyngeal insufficiency Anal stenosis Conotruncal defect Generalized hyperkeratosis Psychotic episodes Perimembranous ventricular septal defect Hearing abnormality Right aortic arch Interrupted aortic arch Epibulbar dermoid Graves disease Aplasia of the uterus Keloids Mood swings Upper limb asymmetry Basal ganglia calcification Juvenile rheumatoid arthritis Lymphangioma Abnormality of the endocrine system Echolalia Myelomeningocele Pierre-Robin sequence Venous malformation Delusions Neoplasm of the central nervous system Testicular neoplasm Nephrogenic diabetes insipidus Duodenal stenosis Apathy Abnormality of the ear Abnormality of temperature regulation Unilateral chest hypoplasia Ichthyosis follicularis Connective tissue nevi Abnormal pelvis bone morphology Depigmentation/hyperpigmentation of skin Thin fingernail Hypertrophy of skin of soles Scleritis Hypoplasia of the bladder Cerebral cortical hemiatrophy Paronychia Episcleritis Hyperconvex fingernails Abnormal nasolacrimal system morphology Cerebellar atrophy Subcortical cerebral atrophy Corneal scarring Abnormality of the upper urinary tract Cheilitis Alopecia universalis Oxycephaly Thin eyebrow Alopecia totalis Olivopontocerebellar atrophy Recurrent corneal erosions Hypoplastic fingernail Follicular hyperkeratosis Corneal erosion Central heterochromia Neoplasm of the thymus Calvarial hyperostosis Narrow internal auditory canal Myopathic facies Inflammation of the large intestine Hypoplasia of the brainstem Portal vein thrombosis Obsessive-compulsive behavior Vascular skin abnormality Rheumatoid arthritis Dysdiadochokinesis Arnold-Chiari malformation Macrodactyly Bicuspid aortic valve Holoprosencephaly Sirenomelia Hallucinations Abnormal subcutaneous fat tissue distribution Facial hyperostosis Low posterior hairline Peripheral demyelination Chorea Hemolytic anemia Nevus sebaceous Dysmetria Thymus hyperplasia Congenital cataract Retinal hamartoma Bronchogenic cyst Retrognathia Retinal nonattachment Thrombophlebitis Goiter Asymmetry of the thorax Abdominal pain Decreased antibody level in blood Nevus Gliosis Sudden cardiac death Polymicrogyria Abnormality of skin pigmentation Pulmonary embolism Confusion Finger syndactyly Craniosynostosis Carcinoma Spinal canal stenosis Visual loss High myopia Syndactyly Absent eyelashes Abnormality of the tonsils Tricuspid atresia Multiple suture craniosynostosis Abnormal aortic arch morphology Hypertensive crisis Retinal arteriolar tortuosity Anorectal anomaly Abnormal pulmonary valve morphology Arrhinencephaly Small earlobe Abnormality of the pharynx Overgrowth Abnormal form of the vertebral bodies Hypoplasia of the thymus Venous thrombosis Reduced number of teeth Abnormality of the metacarpal bones Growth abnormality Cachexia Lipodystrophy Chorioretinal coloboma Melanocytic nevus Hyperostosis Diabetes insipidus Decreased muscle mass Hemangioma Hallux valgus Disproportionate tall stature Generalized hyperpigmentation Generalized hirsutism Pericardial effusion Lymphopenia Neurofibromas Sinusitis Multiple lipomas Abnormality of retinal pigmentation Multiple cafe-au-lait spots Thickened skin Hamartoma Ovarian neoplasm Subcutaneous nodule Heterotopia Abnormal aortic valve morphology Tetany Arteria lusoria Unilateral lung agenesis Intestinal malrotation Hemihypertrophy Arachnodactyly Joint hyperflexibility Anisocytosis Arterial thrombosis Prominent nasal bridge Short philtrum Telecanthus Myalgia Buphthalmos Unilateral primary pulmonary dysgenesis Sacral meningocele Lower limb asymmetry Right aortic arch with mirror image branching Congenital conductive hearing impairment Myofibrillar myopathy Perineal fistula Vascular ring Palmoplantar hyperkeratosis Thin bony cortex Long penis Visceral angiomatosis Central nervous system degeneration Thick nasal alae Enlarged polycystic ovaries Asymmetric growth Abnormality of the neck Gastrointestinal hemorrhage Corneal neovascularization Lipoma Abnormality of the uterus Chronic obstructive pulmonary disease Atelectasis Irregular hyperpigmentation Abnormality of the skull Patellar dislocation Turricephaly Neoplasm of the lung Foot polydactyly Hyperthyroidism Bowel incontinence Dysphasia Chronic otitis media Exostoses Renal hypoplasia Papilledema Overfolded helix Abnormality of the thorax Laryngomalacia Capillary hemangioma Spinal cord compression Abnormality of finger Abnormality of the wrist Macroorchidism Meningioma Deep venous thrombosis Hypopigmented skin patches Arteriovenous malformation Occipital myelomeningocele Prominent supraorbital ridges Abnormal eyelash morphology Brachydactyly Broad thumb Bowing of the long bones Osteoarthritis Wide intermamillary distance Waddling gait Short metacarpal Short distal phalanx of finger Micromelia Narrow chest Hyperlordosis Joint laxity Pes planus Osteopenia Abnormalities of placenta or umbilical cord Horseshoe kidney Large placenta Abnormality of iron homeostasis Galactosuria Humoral immunodeficiency Hypermethioninemia Renal cortical microcysts Increased serum iron Hypergalactosemia Secretory diarrhea Intractable diarrhea Intermittent diarrhea Increased mean platelet volume Trichorrhexis nodosa Rhizomelia Coxa valga Abnormality of the pancreas Short 1st metacarpal Advanced tarsal ossification Bifid distal phalanx of the thumb Large joint dislocations Multiple joint dislocation Advanced ossification of carpal bones Long upper lip Vertebral clefting Hypoplastic vertebral bodies Flattened epiphysis Open angle glaucoma Broad femoral neck Coronal cleft vertebrae Generalized osteoporosis Generalized joint laxity Joint dislocation Flat acetabular roof Irregular vertebral endplates Protuberant abdomen Cystic hygroma Congenital glaucoma Thoracic hypoplasia Short femoral neck Metaphyseal widening Short metatarsal Genu varum Disproportionate short-limb short stature Sandal gap Coxa vara Peripheral pulmonary artery stenosis Villous atrophy Phalangeal dislocation Brachycephaly Acute lymphoblastic leukemia Nephroblastoma Limb-girdle muscular dystrophy Myelodysplasia Sarcoma Hyperpigmentation of the skin Intellectual disability, profound Dandy-Walker malformation Generalized myoclonic seizures Generalized tonic-clonic seizures Severe global developmental delay Muscular dystrophy Leukemia Pulmonary artery hypoplasia Mild microcephaly Chronic lung disease Recurrent lower respiratory tract infections Scaphocephaly Cortical gyral simplification Clitoral hypertrophy Narrow face Recurrent urinary tract infections Pachygyria Abnormal lung morphology Hypertrichosis Decreased fetal movement Convex nasal ridge Abnormal cardiac septum morphology Acute leukemia Short sternum Large forehead Premature birth Woolly hair Thrombocytosis Underdeveloped supraorbital ridges Iron deficiency anemia Curly hair Abnormality of the immune system Brittle hair Hypoalbuminemia Leukopenia Hepatic fibrosis Fine hair Pancytopenia Aciduria Sepsis Rhabdomyosarcoma Cirrhosis Delayed puberty Microtia Sparse hair Abnormality of the liver Elevated hepatic transaminase Jaundice Prominent forehead Hepatomegaly Hypodysplasia of the corpus callosum Embryonal rhabdomyosarcoma Premature chromatid separation Cerebral hypoplasia Triangular mouth Partial duplication of the distal phalanx of the hallux Supernumerary metacarpal bones Blepharitis Alopecia Astigmatism Hypotrichosis Nail dystrophy Papule Corneal opacity Camptodactyly of finger Scarring Erythema Developmental regression Camptodactyly Photophobia Cerebral cortical atrophy Hyperhidrosis Delayed skeletal maturation Pulmonary hypoplasia Flexion contracture Recurrent pyelonephritis Hair-pulling Fulminant hepatic failure Tongue thrusting Hyperorality Cerebellar cortical atrophy Toenail dysplasia Episodic vomiting Periorbital fullness Delayed CNS myelination Concave nasal ridge Bruxism Ichthyosis Postaxial polydactyly Abnormality of the periventricular white matter Intestinal obstruction Alopecia of scalp Parakeratosis Uveitis Oligodactyly Ectrodactyly Atonic seizures Congenital ichthyosiform erythroderma Abnormality of the vertebral column Absent septum pellucidum Mixed hearing impairment Hydroureter Absent eyebrow Keratitis Erythroderma Palmoplantar keratoderma Scaling skin Urticaria Plagiocephaly Opacification of the corneal stroma Conjunctivitis Recurrent bacterial infections Hypoplasia of dental enamel Omphalocele Abnormality of the ribs Eczema Postaxial hand polydactyly Ectodermal dysplasia Brain atrophy Arachnoid cyst Palpebral edema Multiple carpal ossification centers Language impairment Vomiting Gait disturbance Absent nasal bridge Widely-spaced maxillary central incisors Chorioretinitis Optic nerve coloboma Hydrocele testis Missing ribs Arnold-Chiari type I malformation Severe combined immunodeficiency Syringomyelia Long nose Anophthalmia Bilateral ptosis Neonatal hypotonia Pyloric stenosis Short toe Tapered finger Small hand Coloboma Congestive heart failure Respiratory insufficiency Hypertension Splayed fingers Medial deviation of the foot Radioulnar dislocation Broad first metatarsal Proximal fibular overgrowth Hyporeflexia Irritability Impaired pain sensation Cerebral visual impairment Poor eye contact Weak cry Cellulitis 2-3 toe syndactyly Hypoplastic toenails Large hands Recurrent skin infections Poor head control Increased intracranial pressure Abnormality of the outer ear Sacral dimple Accelerated skeletal maturation Short chin Dental crowding Hypermetropia Tall stature Nephrolithiasis Long eyelashes Abnormality of the genital system Broad-based gait Hepatitis Dental malocclusion Full cheeks Sleep disturbance High, narrow palate Thick vermilion border Thick eyebrow Unsteady gait Nausea and vomiting Mandibular hyperostosis


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