Immunodeficiency, and Ichthyosis

Diseases related with Immunodeficiency and Ichthyosis

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

Top matches:

Immunodeficiency-55 is an autosomal recessive primary immunodeficiency characterized by intrauterine growth retardation, natural killer (NK) cell deficiency, and chronic neutropenia. Most patients also have postnatal growth retardation. Other clinical manifestations include mild facial dysmorphism, dry or eczematous skin, and recurrent infections with both viruses and bacteria. The disorder appears to result from a defect in DNA replication causing blockade of immune cell differentiation in the bone marrow, particularly affecting NK cells (summary by Cottineau et al., 2017).

COMBINED IMMUNODEFICIENCY DUE TO GINS1 DEFICIENCY Is also known as cid due to gins1 deficiency|combined immunodeficiency with intrauterine growth retardation-natural killer cell deficiency-neutropenia|combined immunodeficiency with intrauterine growth retardation-nk cell deficiency-neutropenia

Related symptoms:

  • Growth delay
  • Abnormal facial shape
  • Anemia
  • Intrauterine growth retardation
  • Blindness


SOURCES: OMIM ORPHANET MENDELIAN

More info about COMBINED IMMUNODEFICIENCY DUE TO GINS1 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

Shwachman-Diamond syndrome (SDS) is a rare multisystemic syndrome characterized by chronic and usually mild neutropenia, pancreatic exocrine insufficiency associated with steatorrhea and growth failure, skeletal dysplasia with short stature, and an increased risk of bone marrow aplasia or leukemic transformation.

SHWACHMAN-DIAMOND SYNDROME Is also known as pancreatic insufficiency and bone marrow dysfunction|shwachman syndrome|shwachman-bodian syndrome|shwachman-diamond syndrome|shwachman-bodian-diamond syndrome|sds|lipomatosis of pancreas, congenital

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about SHWACHMAN-DIAMOND SYNDROME

Other less relevant matches:

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

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

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

WOOLLY HAIR, AUTOSOMAL RECESSIVE 3; ARWH3 Is also known as woolly hair, autosomal recessive 3, with hypotrichosis

Related symptoms:

  • Intellectual disability
  • Diarrhea
  • Immunodeficiency
  • Hyperhidrosis
  • Rigidity


SOURCES: OMIM MENDELIAN

More info about WOOLLY HAIR, AUTOSOMAL RECESSIVE 3; ARWH3

Epidermolysis bullosa simplex due to plakophilin deficiency (EBS-PD) is a suprabasal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized superficial erosions and less commonly blistering.

EPIDERMOLYSIS BULLOSA SIMPLEX DUE TO PLAKOPHILIN DEFICIENCY Is also known as mcgrath syndrome|ectodermal dysplasia-skin fragility syndrome

Related symptoms:

  • Failure to thrive
  • Immunodeficiency
  • Alopecia
  • Hyperhidrosis
  • Hyperkeratosis


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about EPIDERMOLYSIS BULLOSA SIMPLEX DUE TO PLAKOPHILIN DEFICIENCY

Sézary syndrome (SS) is an aggressive form of cutaneous T-cell lymphoma characterized by a triad of erythroderma, lymphadenopathy and circulating atypical lymphocytes (Sézary cells).

SÉZARY SYNDROME Is also known as sÉzary lymphoma

Related symptoms:

  • Neoplasm
  • Abnormal facial shape
  • Peripheral neuropathy
  • Hepatomegaly
  • Fever


SOURCES: MESH ORPHANET MENDELIAN

More info about SÉZARY SYNDROME

Chronic mucocutaneous candidosis (CMC) refers to a group of heterogenous disorders characterized by persistent, debilitating and/or recurrent infections of the skin, nails, and mucus membranes, mainly with the fungal pathogen Candida albicans.

CHRONIC MUCOCUTANEOUS CANDIDIASIS Is also known as card9 immunodeficiency|candidiasis, familial chronic mucocutaneous, autosomal recessive|cmc

Related symptoms:

  • Seizures
  • Fever
  • Behavioral abnormality
  • Immunodeficiency
  • Headache


SOURCES: OMIM ORPHANET MENDELIAN

More info about CHRONIC MUCOCUTANEOUS CANDIDIASIS

Top 5 symptoms//phenotypes associated to Immunodeficiency and Ichthyosis

Symptoms // Phenotype % cases
Growth delay Uncommon - Between 30% and 50% cases
Palmoplantar keratoderma Uncommon - Between 30% and 50% cases
Recurrent infections Uncommon - Between 30% and 50% cases
Hyperhidrosis Uncommon - Between 30% and 50% cases
Eczema Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Short stature Specific learning disability Hyperkeratosis Alopecia Hypotrichosis Failure to thrive Global developmental delay Recurrent respiratory infections Microcephaly Erythema Dry skin Anemia Intrauterine growth retardation Neoplasm Blepharitis Skin rash Nail dystrophy Epidermal acanthosis Diarrhea Lymphopenia Recurrent bacterial infections Leukemia Lymphoma Cryptorchidism Pruritus Delayed skeletal maturation Skin ulcer Hearing impairment Seizures Abnormality of the nail Scoliosis Respiratory tract infection Myelodysplasia Erythroderma Hepatomegaly Intellectual disability Lymphadenopathy

Rare Symptoms - Less than 30% cases

Polydactyly Malabsorption Woolly hair Intellectual disability, mild Abnormal facial shape Nail dysplasia Respiratory distress Thrombocytopenia Chronic diarrhea Carious teeth Diabetes mellitus Scaling skin Abnormality of dental enamel Severe short stature Pulmonary fibrosis Abnormality of the dentition Telangiectasia of the skin Absent eyelashes Ectodermal dysplasia Cheilitis Aplastic anemia Acute myeloid leukemia Pancytopenia Myeloid leukemia Abnormality of temperature regulation Papule Splenomegaly Hypopigmented skin patches Abnormality of the skin Bone marrow hypocellularity Sparse hair Cerebellar hypoplasia Abnormal blistering of the skin Fever Skin vesicle Hypothyroidism Postnatal growth retardation Neutropenia Inflammatory abnormality of the skin Bronchiectasis Abnormal intestine morphology Generalized hypotonia Ataxia Abnormal eyebrow morphology Peripheral neuropathy Edema Abnormal eyelash morphology Mental deterioration Developmental regression Abnormality of the face Epiphora Neoplasm of the skin Abnormality of the fingernails Lichenification Absent lacrimal punctum Conjunctivitis Hemivertebrae Multicystic kidney dysplasia Muscular hypotonia Nystagmus Cleft palate Flexion contracture Abnormality of the hair Abnormal vertebral morphology Feeding difficulties Hypohidrosis Abnormality of the kidney Scarring Renal dysplasia Esophageal stenosis Umbilical hernia Palmar hyperkeratosis Photophobia Hydronephrosis Opacification of the corneal stroma Plagiocephaly Displacement of the external urethral meatus Abnormality of the hand Urticaria Congenital bullous ichthyosiform erythroderma Anorectal anomaly Hypoplasia of dental enamel Omphalocele Aganglionic megacolon Hypoplasia of the corpus callosum Camptodactyly of finger Corneal opacity Hernia Inguinal hernia Agenesis of corpus callosum Microphthalmia Kyphosis Hip dislocation Intellectual disability, severe Dementia Camptodactyly Platyspondyly Talipes Dilatation Ventriculomegaly Cerebral cortical atrophy Astigmatism Pulmonary hypoplasia Macrotia Psoriasiform dermatitis Frontal bossing Brain atrophy Myopia Postaxial hand polydactyly Oligohydramnios Abnormality of the ribs Choanal atresia Postaxial polydactyly Olivopontocerebellar atrophy Unilateral renal agenesis Ectropion Behavioral abnormality Cutaneous T-cell lymphoma Abnormal immunoglobulin level Abnormal lymphocyte morphology T-cell lymphoma Abnormality of the pleura Gangrene Irregular hyperpigmentation Thickened skin Abnormality of the eye Hepatosplenomegaly Weight loss Tremor Skeletal muscle atrophy Furrowed tongue Fragile skin Palmoplantar hyperkeratosis Trichorrhexis nodosa Headache Feeding difficulties in infancy Sparse eyelashes Abnormal toenail morphology Broad nail Dyspareunia Abnormal lip morphology Onychomycosis Abnormal endocardium morphology Recurrent fungal infections Abnormal vagina morphology Chronic mucocutaneous candidiasis Abnormality of the mouth Cough Hemoptysis Abnormality of blood and blood-forming tissues Abnormality of the immune system Abnormality of vision Meningitis Recurrent urinary tract infections Hepatitis Hematuria Curly hair Sparse scalp hair Bifid scrotum Ectrodactyly Follicular hyperkeratosis Corneal erosion Abnormal eyelid morphology Alopecia of scalp Parakeratosis Uveitis Submucous cleft hard palate Oligodactyly Atonic seizures Hypoplastic fingernail Congenital ichthyosiform erythroderma Abnormality of the vertebral column Absent septum pellucidum Mixed hearing impairment Hydroureter Absent eyebrow Keratitis Intestinal obstruction Heat intolerance Recurrent corneal erosions Fine hair Paronychia Rigidity Unilateral chest hypoplasia Ichthyosis follicularis Abnormal pelvis bone morphology Thin fingernail Scleritis Hypoplasia of the bladder Cerebral cortical hemiatrophy Episcleritis Nail pits Hyperconvex fingernails Abnormal nasolacrimal system morphology Subcortical cerebral atrophy Corneal scarring Abnormality of the upper urinary tract Alopecia universalis Oxycephaly Thin eyebrow Alopecia totalis Reticular hyperpigmentation Hypodontia Rough bone trabeculation Apraxia Leukopenia Coxa vara Nephrocalcinosis Type I diabetes mellitus Short ribs Decreased liver function Abnormality of the metaphysis Microdontia Neonatal respiratory distress Sepsis Generalized muscle weakness Narrow chest Small for gestational age Pectus carinatum Elevated hepatic transaminase Skeletal dysplasia Metaphyseal widening Short thorax Abnormality of the skeletal system Persistence of hemoglobin F Narrow sacroiliac notch Proximal femoral epiphysiolysis Metaphyseal dysostosis Myocardial necrosis Proximal femoral metaphyseal irregularity Enlargement of the costochondral junction Paroxysmal nocturnal hemoglobinuria Metaphyseal sclerosis Steatorrhea Anterior rib cupping Metaphyseal chondrodysplasia Recurrent aphthous stomatitis Acute monocytic leukemia Recurrent viral infections Ovoid vertebral bodies Exocrine pancreatic insufficiency Multiple lipomas Osteopenia Gait disturbance Micrognathia Severe intrauterine growth retardation Ptosis Sensorineural hearing impairment Strabismus Erythroid dysplasia Folliculitis Protein-losing enteropathy Osteosarcoma Atopic dermatitis Micropenis Autoimmune hemolytic anemia Recurrent skin infections Abnormal lung morphology Hemolytic anemia Respiratory failure Glaucoma Blindness Hypogonadism Hypoglycemia Absent testis Focal impaired awareness seizure Congenital nephrotic syndrome Steroid-resistant nephrotic syndrome Diffuse mesangial sclerosis Primary hypothyroidism Primary adrenal insufficiency Adrenal insufficiency Focal segmental glomerulosclerosis Glomerulosclerosis Proteinuria Hypoalbuminemia Hypocalcemia Hypertriglyceridemia Nephrotic syndrome Focal-onset seizure Stage 5 chronic kidney disease Retinopathy Abnormality of the nervous system Irregular ossification at anterior rib ends Cardiomyopathy Porokeratosis Cerebral calcification Hypermelanotic macule Abnormality of coagulation Premature graying of hair Tracheoesophageal fistula Dermal atrophy Hepatic fibrosis Hyperpigmentation of the skin Hypoplasia of the maxilla Macule Recurrent fractures Hepatic failure Cirrhosis Abnormality of skin pigmentation Osteoporosis Cataract Facial telangiectasia in butterfly midface distribution Neurofibromas Aplasia/Hypoplasia of the skin Neoplasm of the gastrointestinal tract Cellular immunodeficiency Aplastic/hypoplastic toenail Interstitial pneumonitis Abnormality of neutrophils Urethral stenosis Squamous cell carcinoma of the skin Abnormality of the pharynx Testicular atrophy Abnormality of female internal genitalia Aseptic necrosis Ridged nail Oral leukoplakia Abnormality of the testis White hair Periodontitis Taurodontia Neoplasm of the pancreas Premature loss of teeth Agenesis of maxillary lateral incisor Spotty hyperpigmentation Short nose Prominent nose Sinusitis Cafe-au-lait spot Telangiectasia Hypertrichosis Cutaneous photosensitivity Type II diabetes mellitus Otitis media Decreased antibody level in blood Azoospermia Infertility Dolichocephaly Finger syndactyly Protruding ear Pneumonia Clinodactyly of the 5th finger Syndactyly Malar flattening Narrow face Sacral dimple Spotty hypopigmentation Hypoplastic pelvis Female infertility Decreased fertility in females Abnormality of chromosome stability IgM deficiency Abnormality of the nose Chronic obstructive pulmonary disease Chronic lung disease Chromosome breakage Reduced number of teeth Hypoplasia of the zygomatic bone Acute leukemia IgG deficiency Hodgkin lymphoma IgA deficiency High pitched voice Squamous cell carcinoma Hand polydactyly Chronic oral candidiasis


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