Immunodeficiency, and Hypodontia

Diseases related with Immunodeficiency and Hypodontia

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

Top matches:

Mutations in the NFKBIA gene result in functional impairment of NFKB1 (OMIM ), a master transcription factor required for normal activation of immune responses. Interruption of NFKB1 signaling results in decreased production of proinflammatory cytokines and certain interferons, rendering patients susceptible to infection (McDonald et al., 2007).

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Delayed speech and language development
  • Frontal bossing
  • Diarrhea


SOURCES: OMIM MESH MENDELIAN

More info about ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, AUTOSOMAL DOMINANT

Some ectodermal dysplasias are here classified as congenital disorders characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings.Hypohidrotic, or anhidrotic, ectodermal dysplasia (HED/EDA) is characterized by a triad of signs comprising sparse hair (hypotrichosis), abnormal or missing teeth (anodontia or hypodontia), and inability to sweat (anhidrosis or hypohidrosis). Typical clinical manifestations also include dryness of the skin, eyes, airways, and mucous membranes presumably due to the defective development of several exocrine glands. Hypohidrotic ectodermal dysplasia can be associated with dysmorphic features (forehead bumps, rings under the eyes, everted nose, and prominent lips) and occasionally with absent nipples. Ectodermal dysplasia-1, due to mutation in the EDA gene, is the most frequent form of hypohidrotic ectodermal dysplasia (summary by Cluzeau et al., 2011).

X-LINKED HYPOHIDROTIC ECTODERMAL DYSPLASIA Is also known as xhed|ectd1|cst syndrome|ed1|christ-siemens-touraine syndrome|eda1|eda|ectodermal dysplasia, anhidrotic, x-linked|ectodermal dysplasia, hypohidrotic, 1|x-linked anhidrotic ectodermal dysplasia|hed1|xlhed|ectodermal dysplasia 1, hypohidrotic/hair/tooth type

Related symptoms:

  • Intellectual disability
  • Feeding difficulties
  • Depressed nasal bridge
  • Hypertension
  • Fever


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED HYPOHIDROTIC ECTODERMAL DYSPLASIA

Other less relevant matches:

High match NEVUS OF ITO

Nevus of Ito is a benign dermal melanocytosis occurring most frequently in the Asian populations and characterized by unilateral, asymptomatic, blue, gray or brown skin pigmentation within the acromioclavicular and upper chest area (involving the side of the neck, the supraclavicular and scapular areas, and the shoulder region). It is usually diagnosed in early infancy and in early adolescence. Nevus of Ito may progressively enlarge and darken in color (particularly with puberty) and its appearance usually remains stable once adulthood is reached. Spontaneous regression does not occur. Malignant melanoma has rarely been reported within a nevus of Ito. It shares the clinical features of nevus of Ota, except its anatomic location and in rare occasions, mayoccur together with the latter.

NEVUS OF ITO Is also known as incontinentia pigmenti, familial male-lethal type|nevus fuscocaeruleus acromiodeltoideus|ip2, formerly|bloch-sulzberger syndrome|incontinentia pigmenti, type ii, formerly

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Microcephaly
  • Neoplasm


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEVUS OF ITO

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

Dyskeratosis congenita (DC) is a rare ectodermal dysplasia that often presents with the classic triad of nail dysplasia, skin pigmentary changes, and oral leukoplakia associated with a high risk of bone marrow failure (BMF) and cancer.

DYSKERATOSIS CONGENITA Is also known as dkc|dc|dyskeratosis congenita, scoggins type|zinsser-engman-cole syndrome

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about DYSKERATOSIS CONGENITA

Kabuki syndrome is a congenital mental retardation syndrome with additional features, including postnatal dwarfism, a peculiar facies characterized by long palpebral fissures with eversion of the lateral third of the lower eyelids (reminiscent of the make-up of actors of Kabuki, a Japanese traditional theatrical form), a broad and depressed nasal tip, large prominent earlobes, a cleft or high-arched palate, scoliosis, short fifth finger, persistence of fingerpads, radiographic abnormalities of the vertebrae, hands, and hip joints, and recurrent otitis media in infancy (Niikawa et al., 1981). Genetic HeterogeneityKabuki syndrome-2 (OMIM ) is caused by mutation in the KDM6A gene (OMIM ) on chromosome Xp11.3.

KABUKI SYNDROME 1; KABUK1 Is also known as kabuki syndrome|kabuki make-up syndrome|kms|niikawa-kuroki syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about KABUKI SYNDROME 1; KABUK1

Low 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

AUTOSOMAL DOMINANT HYPOHIDROTIC ECTODERMAL DYSPLASIA Is also known as autosomal dominant anhidrotic ectodermal dysplasia|ad-hed

Related symptoms:

  • Abnormality of the dentition
  • Prominent forehead
  • Hypotrichosis
  • Abnormality of skin pigmentation
  • Thick vermilion border


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT HYPOHIDROTIC ECTODERMAL DYSPLASIA

Some ectodermal dysplasias are here classified as congenital disorders characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings.Hypohidrotic, or anhidrotic, ectodermal dysplasia (HED/EDA) is characterized by a triad of signs comprising sparse hair (hypotrichosis), abnormal or missing teeth (anodontia or hypodontia), and inability to sweat (anhidrosis or hypohidrosis). Typical clinical manifestations also include dryness of the skin, eyes, airways, and mucous membranes presumably due to the defective development of several exocrine glands. Hypohidrotic ectodermal dysplasia can be associated with dysmorphic features (forehead bumps, rings under the eyes, everted nose, and prominent lips) and occasionally with absent nipples (summary by Cluzeau et al., 2011).For a discussion of genetic heterogeneity of hypohidrotic/anhidrotic ectodermal dysplasia, see {305100}.

Related symptoms:

  • Hyperhidrosis
  • Hyperkeratosis
  • Sparse hair
  • Short philtrum
  • Nail dystrophy


SOURCES: OMIM MENDELIAN

More info about ECTODERMAL DYSPLASIA 12, HYPOHIDROTIC/HAIR/TOOTH/NAIL TYPE; ECTD12

Top 5 symptoms//phenotypes associated to Immunodeficiency and Hypodontia

Symptoms // Phenotype % cases
Abnormality of the dentition Common - Between 50% and 80% cases
Recurrent infections Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Recurrent respiratory infections Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Hypohidrosis Sparse hair Ectodermal dysplasia Growth delay Microdontia Failure to thrive Hyperkeratosis Hyperhidrosis Anodontia Short stature Thick vermilion border Abnormality of skin pigmentation Feeding difficulties Hypoplastic nipples Hearing impairment Nail dysplasia Prominent nose Sparse and thin eyebrow Nail dystrophy Malabsorption Neoplasm Anemia Thin skin Hypohidrotic ectodermal dysplasia Alopecia Hypoplasia of the maxilla Fever Hypotrichosis Cryptorchidism Nail pits Anhidrosis Respiratory tract infection Global developmental delay Seizures Sparse scalp hair Heat intolerance Diarrhea Pneumonia Conical tooth Anhidrotic ectodermal dysplasia

Rare Symptoms - Less than 30% cases

Cataract Strabismus Hydroureter Anal atresia IgA deficiency Malar flattening Diabetes mellitus Protruding ear Leukemia Postnatal growth retardation Hand polydactyly Absent nipple Lymphoma Abnormality of the urinary system Taurodontia Specific learning disability Growth hormone deficiency Epiphora Short philtrum Visual loss Hyperpigmentation of the skin Cleft palate Syndactyly Cafe-au-lait spot Posteriorly rotated ears Agenesis of permanent teeth Ridged nail Otitis media Decreased antibody level in blood Keratitis Abnormal blistering of the skin Carious teeth Polydactyly Scoliosis Micropenis Depressed nasal tip Hydronephrosis Skin rash Blepharitis Erythema Intrauterine growth retardation Sparse body hair Renal dysplasia Micrognathia Spasticity Periorbital wrinkles Short nose Bronchiectasis Pulmonary fibrosis Anxiety Epicanthus Hypertelorism Dry skin Generalized hypotonia Eosinophilia Oligodontia Concave nasal ridge Telangiectasia of the skin Intellectual disability, mild Fine hair Prominent forehead Delayed eruption of teeth Severe short stature Brittle hair Delayed speech and language development Sparse eyelashes Hypopigmented skin patches Frontal bossing Abnormality of the fingernails Depressed nasal ridge Anorectal anomaly Eczema Myopia Ptosis Increased body weight Abnormal vertebral morphology Muscular hypotonia Long eyelashes Heterotopia Congenital hip dislocation Recurrent otitis media Abnormal facial shape Hypoglycemia Abnormal dermatoglyphics Absent lacrimal punctum Horseshoe kidney Hyperbilirubinemia Esophageal stenosis Purpura Blue sclerae Palmar hyperkeratosis Poor suck Failure to thrive in infancy Displacement of the external urethral meatus Congenital bullous ichthyosiform erythroderma Precocious puberty Cupped ear Bilateral cryptorchidism Preauricular pit Small nail Highly arched eyebrow Coarctation of aorta Patent ductus arteriosus Obesity Abnormal cardiac septum morphology Depressivity Hypospadias Coloboma Paralysis Clinodactyly Abnormal heart morphology Dilatation Abnormality of the pinna Feeding difficulties in infancy Abnormality of the kidney Hypothyroidism Macrotia Intellectual disability, moderate Bundle branch block Pes planus Hernia Renal insufficiency Congenital diaphragmatic hernia Hemolytic anemia High palate Brachydactyly Wide nasal bridge Dental malocclusion Intestinal malrotation Single transverse palmar crease Jaundice Hirsutism Kyphosis Wide nose Abnormality of the skeletal system Polymicrogyria Ventricular septal defect Atrial septal defect Joint hypermobility Astigmatism Autoimmunity Joint laxity Bronchomalacia Right bundle branch block Telangiectasia Acute myeloid leukemia Myeloid leukemia High pitched voice Squamous cell carcinoma Reduced number of teeth Sacral dimple Azoospermia Narrow face Sinusitis Abnormality of the face IgG deficiency Hypertrichosis Cutaneous photosensitivity Type II diabetes mellitus Abnormality of the skin Ichthyosis Infertility Dolichocephaly Finger syndactyly Clinodactyly of the 5th finger Hodgkin lymphoma Acute leukemia Cardiomyopathy Neoplasm of the gastrointestinal tract Acne inversa Orthokeratosis Subungual hyperkeratosis Natal tooth Premature loss of primary teeth Malignant hyperthermia Abnormality of dental morphology Facial telangiectasia in butterfly midface distribution Agenesis of maxillary lateral incisor Spotty hyperpigmentation Hypoplasia of the zygomatic bone Spotty hypopigmentation Female infertility Decreased fertility in females Abnormality of chromosome stability IgM deficiency Abnormality of the nose Chronic obstructive pulmonary disease Chronic lung disease Hypoplastic pelvis Chromosome breakage Delayed skeletal maturation Congenital mitral stenosis Celiac disease Scaphocephaly Small face Cholangitis Optic nerve coloboma Mitral stenosis Retinal coloboma Short 5th finger Short columella Patellar dislocation Vitiligo Overweight Trichorrhexis nodosa Hashimoto thyroiditis Anal stenosis Autoimmune thrombocytopenia Thyroiditis Congenital hypothyroidism Autoimmune hemolytic anemia Cerebellar vermis atrophy Transposition of the great arteries Severe hearing impairment Long palpebral fissure Broad philtrum Anterior plagiocephaly Anoperineal fistula Single ventricle Nocturnal lagophthalmos Vertical orbital dystopia Pilonidal sinus Short nasal septum Eversion of lateral third of lower eyelids Premature thelarche Prominent eyelashes Liver abscess Sclerosing cholangitis Crossed fused renal ectopia Recurrent ear infections Common atrium Vertebral clefting Epibulbar dermoid Abnormality of the middle ear Recurrent aspiration pneumonia Prominent fingertip pads Biliary atresia Rough bone trabeculation Diaphragmatic eventration Ureteropelvic junction obstruction Reticular hyperpigmentation Hepatomegaly Porokeratosis Retinal detachment Hyperostosis Coarse hair Hemivertebrae Increased bone mineral density Lymphedema Nevus Tetraplegia Hypopigmentation of the skin Papule Uveitis Scarring Pallor Kyphoscoliosis Microphthalmia Optic atrophy Visual impairment Hypoplastic-absent sebaceous glands Aplasia/Hypoplastia of the eccrine sweat glands Supernumerary nipple Pustule Everted upper lip vermilion Atrophic, patchy alopecia Small for gestational age Microtia Blepharophimosis Cleft lip Telecanthus Conductive hearing impairment Photophobia Inguinal hernia Retinal vascular proliferation Abnormality of the vasculature Hyperpigmented streaks Retinal hemorrhage Scarring alopecia of scalp Supernumerary ribs Breast aplasia Breast hypoplasia Generalized osteosclerosis Thick nail Hypoplasia of the fovea Periorbital hyperpigmentation Abnormal oral mucosa morphology Abnormality of the foot Long philtrum Hypsarrhythmia Asthma Unsteady gait Hypermetropia Attention deficit hyperactivity disorder Thin upper lip vermilion Narrow mouth Hyperactivity Defective production of NFKB1-dependent cytokines Narrow palpebral fissure Aplasia of the sweat glands Recurrent infection of the gastrointestinal tract Lymphocytosis Agammaglobulinemia Leukocytosis Chronic diarrhea Arthritis Hepatosplenomegaly Short palpebral fissure Myopathic facies Concave nail Short chin Anterior hypopituitarism Soft skin Absent eyelashes Rhinitis Aplasia/Hypoplasia of the eyebrow Absent eyebrow Prominent supraorbital ridges Dysphonia Type I diabetes mellitus Delayed ability to walk Hoarse voice Underdeveloped nasal alae Everted lower lip vermilion Short distal phalanx of finger Intellectual disability, severe Respiratory distress Hypertension Depressed nasal bridge Thin eyebrow Toe syndactyly Cleft upper lip Aplastic/hypoplastic toenail Lymphopenia Abnormality of coagulation Premature graying of hair Tracheoesophageal fistula Myelodysplasia Dermal atrophy Neoplasm of the skin Abnormal intestine morphology Bone marrow hypocellularity Skin ulcer Neurofibromas Hepatic fibrosis Pancytopenia Cerebral calcification Recurrent fractures Palmoplantar keratoderma Hepatic failure Cirrhosis Osteoporosis Hypermelanotic macule Macule Thrombocytopenia Aplastic anemia Interstitial pneumonitis Abnormality of neutrophils Urethral stenosis Squamous cell carcinoma of the skin Abnormality of the pharynx Testicular atrophy Cellular immunodeficiency Abnormality of female internal genitalia Oral leukoplakia Skin vesicle Abnormality of the testis White hair Periodontitis Abnormal eyebrow morphology Neoplasm of the pancreas Abnormal eyelash morphology Premature loss of teeth Aseptic necrosis Aplasia/Hypoplasia of the skin Cerebellar hypoplasia Splenomegaly Oral cleft Conjunctivitis Bilateral cleft lip Split foot Xerostomia Ectrodactyly Hypopituitarism Absent septum pellucidum Preaxial polydactyly Abnormality of the genitourinary system Hypogonadotrophic hypogonadism Fair hair Abnormality of the genital system Omphalocele Split hand Choanal atresia Oligohydramnios Renal agenesis Vesicoureteral reflux Broad nasal tip Pulmonary hypoplasia Blue irides Generalized hypopigmentation Ataxia Abnormality of the nasopharynx Slow-growing scalp hair Absence of Stensen duct Transverse vaginal septum Abnormal salivary gland morphology Urethral atresia Dacryocystitis Semilobar holoprosencephaly Ureterocele Duplicated collecting system Sparse axillary hair Nasolacrimal duct obstruction Selective tooth agenesis Central diabetes insipidus Bladder diverticulum Recurrent corneal erosions Hypoplasia of the thymus Sparse pubic hair Rectovaginal fistula Dysuria Hypoplastic sweat glands


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