Immunodeficiency, and Cholestasis

Diseases related with Immunodeficiency and Cholestasis

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

Top matches:

Immunodeficiency-47 is an X-linked recessive complex immunodeficiency syndrome characterized by recurrent bacterial infections, hypogammaglobulinemia, liver dysfunction, and defective glycosylation of serum proteins. Some patients may also have neurologic abnormalities (summary by Jansen et al., 2016).

IMMUNODEFICIENCY 47; IMD47 Is also known as immunodeficiency and hepatopathy with or without neurologic features

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Sensorineural hearing impairment
  • Hepatomegaly


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY 47; IMD47

A rare, autosomal recessive genetic syndrome caused by mutations in the RAB27A gene. It is characterized by hypopigmentation of the skin, hair and eyes, recurrent infections, neutropenia, and immune system abnormalities. Patients are prone to develop hemophagocytic lymphohistiocytosis.

GRISCELLI SYNDROME TYPE 2 Is also known as hypopigmentation-immunodeficiency with or without neurologic impairment syndrome|griscelli-pruniÉras syndrome type 2

Related symptoms:

  • Seizures
  • Hepatomegaly
  • Fever
  • Hypertonia
  • Splenomegaly


SOURCES: ORPHANET MENDELIAN

More info about GRISCELLI SYNDROME TYPE 2

Zur Stadt et al. (2005) summarized the clinical features of hemophagocytic lymphohistiocytosis (HLH), a rare autosomal recessive disorder characterized by massive infiltration of several organs by activated lymphocytes and macrophages. The clinical features of the disease include fever, hepatosplenomegaly, cytopenia, and less frequently central nervous system involvement. In FHL, the familial form of the disease, first episodes occur mostly during infancy, with a rapidly fatal outcome if untreated. Diagnostic criteria also include low fibrinogen and high triglyceride and ferritin levels. Chemoimmunotherapy based on corticosteroids, epipodophyllotoxins, and cyclosporin succeeds in controlling the disease in the majority of patients, although remission is rarely obtained (Henter et al., 2002). Most patients suffer an early death unless they are treated by hematopoietic stem cell transplantation (Durken et al., 1999). Genetic Heterogeneity of Familial Hemophagocytic LymphohistiocytosisFamilial hemophagocytic lymphohistiocytosis exhibits genetic heterogeneity. In some families, familial hemophagocytic lymphohistiocytosis has been found to be linked to chromosome 9q (HPLH1, FHL1). FHL2 (OMIM ) is caused by mutation in the PRF1 gene (OMIM ) on chromosome 10q22; FHL3 (OMIM ) is caused by mutation in the UNC13D gene (OMIM ) on chromosome 17q25; FHL4 (OMIM ) is caused by mutation in the syntaxin-11 gene (STX11 ) on chromosome 6q24; and FHL5 (OMIM ) is caused by mutation in the syntaxin-binding protein-2 (STXBP2 ), which is an interaction partner of STX11, on chromosome 19p13.Furthermore, before the identification of mutations in the RAG1 (OMIM ) and RAG2 (OMIM ) genes, both of which map to 11p, Omenn syndrome (familial reticuloendotheliosis with eosinophilia; {603554}) was not thought to be clearly distinct from other reported cases of hemophagocytic lymphohistiocytosis.

HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 1; FHL1 Is also known as hemophagocytic reticulosis, familial|hlh1|hemophagocytic lymphohistiocytosis, familial|erythrophagocytic lymphohistiocytosis, familial|reticulosis, familial histiocytic|hplh1|fhl|fhlh|hplh|fel

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Neoplasm


SOURCES: OMIM MENDELIAN

More info about HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 1; FHL1

Other less relevant matches:

GRISCELLI SYNDROME, TYPE 2; GS2 Is also known as partial albinism and immunodeficiency syndrome|griscelli syndrome with hemophagocytic syndrome|paid syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Ataxia


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about GRISCELLI SYNDROME, TYPE 2; GS2

SHPK deficiency is an autosomal recessive inborn error of metabolism characterized by increased urinary erythritol and sedoheptulose. Additional phenotypic consequences of this deficiency are unclear (summary by Wamelink et al., 2015).

ISOLATED SEDOHEPTULOKINASE DEFICIENCY Is also known as isolated shpk deficiency

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ISOLATED SEDOHEPTULOKINASE DEFICIENCY

Low match COG6-CGD

CDG2L is an autosomal recessive multisystem disorder apparent from birth or early infancy. It is characterized by poor growth, gastrointestinal and liver abnormalities, delayed psychomotor development, hypotonia, recurrent infections, hematologic abnormalities, increased bleeding tendency, and hyperhidrosis or hyperkeratosis. More variable features include nonspecific dysmorphic facial features and cardiac septal defects. The disorder often results in death in infancy or the first years of life (summary by Rymen et al., 2015).For a general discussion of CDGs, see CDG1A (OMIM ) and CDG2A (OMIM ).

COG6-CGD Is also known as congenital disorder of glycosylation type 2l|cdg syndrome type iil|cdg-iil|cdg2l|congenital disorder of glycosylation type iil|cdgiil|cdg iil

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about COG6-CGD

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

Chédiak-Higashi syndrome (CHS) is a rare severe genetic disorder generally characterized by partial oculocutaneous albinism (OCA, see this term), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder. A classic, early-onset form and an attenuated, later-onset form (Atypical CHS; see this term) have been described.

CHÉDIAK-HIGASHI SYNDROME Is also known as chÉdiak-higashi-steinbrink syndrome|chÉdiak-higashi disease

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about CHÉDIAK-HIGASHI SYNDROME

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

Immunodeficiency-56 is an autosomal recessive primary immunodeficiency characterized by B- and T-cell defects and variable dysfunction of NK cells. Patients tend to have normal numbers of lymphocytes, but show defective class-switched B cells, low IgG, defective antibody response, and defective T-cell responses to certain antigens (summary by Kotlarz et al., 2013).

COMBINED IMMUNODEFICIENCY DUE TO IL21R DEFICIENCY Is also known as il21r immunodeficiency

Related symptoms:

  • Failure to thrive
  • Immunodeficiency
  • Recurrent infections
  • Pneumonia
  • Abnormality of the liver


SOURCES: OMIM ORPHANET MENDELIAN

More info about COMBINED IMMUNODEFICIENCY DUE TO IL21R DEFICIENCY

Top 5 symptoms//phenotypes associated to Immunodeficiency and Cholestasis

Symptoms // Phenotype % cases
Recurrent infections Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Jaundice Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Hepatomegaly

Uncommon Symptoms - Between 30% and 50% cases

Anemia

Common Symptoms - More than 50% cases

Pancytopenia

Uncommon Symptoms - Between 30% and 50% cases

Splenomegaly Hepatosplenomegaly Abnormality of the liver Failure to thrive Leukopenia Thrombocytopenia Diarrhea Chronic diarrhea Lymphadenopathy Generalized hypotonia Growth delay Partial albinism Hemophagocytosis Short stature Fever Decreased antibody level in blood Elevated hepatic transaminase Cirrhosis Hepatic failure Edema Albinism Hearing impairment Hyperbilirubinemia Peripheral demyelination Sepsis Muscular hypotonia Abnormal facial shape Ataxia Pulmonary infiltrates Iris hypopigmentation Neutropenia

Rare Symptoms - Less than 30% cases

Respiratory tract infection Cholangitis Ventriculomegaly Feeding difficulties Low-set ears Ptosis White hair Hepatitis Cranial nerve paralysis Renal insufficiency Hypopigmentation of the skin Abnormality of movement Rigidity Vomiting Abnormal heart morphology Nystagmus Brittle hair Trichorrhexis nodosa Narrow mouth Cerebellar atrophy Hypofibrinogenemia Malabsorption Abnormal bleeding Atrial septal defect Pneumonia Abnormal cardiac septum morphology Polyhydramnios Intrauterine growth retardation Strabismus Epicanthus Abnormality of the pinna Microcephaly Wide nasal bridge Ventricular septal defect Hip dysplasia Hernia Arthrogryposis multiplex congenita Wide nose Generalized edema Hemolytic anemia Combined immunodeficiency Petechiae Purpura Sensorineural hearing impairment Abnormality of the nervous system Hyperlipidemia Nausea and vomiting Recurrent bacterial infections Hypertonia Premature graying of hair Micronodular cirrhosis Lymphoma Hypoalbuminemia Hepatic steatosis Neoplasm Hypertriglyceridemia Leukemia Hypopigmentation of hair Cryptorchidism High palate Dilatation Myopia Brachydactyly Kyphosis Intellectual disability, mild Abnormality of the dentition Abnormality of the skeletal system Obesity Clinodactyly Depressivity Hydronephrosis Paralysis Protruding ear Postnatal growth retardation Feeding difficulties in infancy Abnormality of the kidney Intellectual disability, moderate Joint laxity Anxiety Hypoglycemia Hypospadias Pes planus Macrotia Hypothyroidism Micropenis Posteriorly rotated ears Severe short stature Visual loss Patent ductus arteriosus Cleft palate Recurrent systemic pyogenic infections Micrognathia Parkinsonism Skin ulcer Hyperpigmentation of the skin Amblyopia Cutaneous photosensitivity Epistaxis Abnormality of extrapyramidal motor function Bradykinesia Gastrointestinal hemorrhage Brain atrophy Neurodegeneration Abnormality of vision Sensory neuropathy Bruising susceptibility Falls Peripheral axonal neuropathy Paresthesia Paraplegia Spastic paraplegia Developmental regression Abnormality of the eye Foot dorsiflexor weakness Decreased nerve conduction velocity Scoliosis Hypersplenism Generalized hypopigmentation of hair Autoimmunity Abnormality of multiple cell lineages in the bone marrow Giant melanosomes in melanocytes Recurrent cutaneous abscess formation Abnormal leukocyte morphology Oculogyric crisis Recurrent bacterial skin infections Macular hypoplasia Progressive peripheral neuropathy Melanocytic nevus Spinocerebellar tract degeneration Generalized hypopigmentation Fair hair Periodontitis Gingivitis Gingival bleeding Generalized hyperpigmentation Resting tremor Sensory axonal neuropathy Cerebral hemorrhage Coloboma Hirsutism Anal atresia Mitral stenosis Bronchomalacia Diaphragmatic eventration Ureteropelvic junction obstruction Recurrent ear infections Anterior plagiocephaly Broad philtrum Small face Optic nerve coloboma Retinal coloboma Prominent fingertip pads Short 5th finger Depressed nasal tip Short columella Patellar dislocation Vitiligo Scaphocephaly Overweight Hashimoto thyroiditis Anal stenosis Biliary atresia Recurrent aspiration pneumonia IgA deficiency Eversion of lateral third of lower eyelids Recurrent infection of the gastrointestinal tract Recurrent sinusitis Bronchiectasis Congenital mitral stenosis Anoperineal fistula Nocturnal lagophthalmos Vertical orbital dystopia Pilonidal sinus Short nasal septum Premature thelarche Abnormality of the middle ear Prominent eyelashes Liver abscess Sclerosing cholangitis Single ventricle Crossed fused renal ectopia Anorectal anomaly Common atrium Vertebral clefting Epibulbar dermoid Autoimmune thrombocytopenia Thyroiditis Astigmatism Otitis media Renal dysplasia Heterotopia Recurrent otitis media Small nail Blue sclerae Coarctation of aorta Congenital diaphragmatic hernia Microdontia Growth hormone deficiency Cafe-au-lait spot Dental malocclusion Prominent nose Intestinal malrotation Hypodontia Single transverse palmar crease Highly arched eyebrow Photophobia Polymicrogyria Joint hypermobility Long eyelashes Abnormal vertebral morphology Congenital hypothyroidism Preauricular pit Autoimmune hemolytic anemia Cerebellar vermis atrophy Transposition of the great arteries Severe hearing impairment Long palpebral fissure Celiac disease Right bundle branch block Bundle branch block Hydroureter Bilateral cryptorchidism Sparse and thin eyebrow Cupped ear Precocious puberty Failure to thrive in infancy Poor suck Abnormality of the urinary system Abnormal dermatoglyphics Horseshoe kidney Congenital hip dislocation Increased body weight Mental deterioration Skeletal muscle atrophy Difficulty walking Prominent nasal bridge Portal hypertension Adducted thumb Arnold-Chiari malformation Tetraplegia Large fontanelles Gliosis Hypotelorism Short foot High forehead Steatorrhea Aspiration Inguinal hernia Meningitis Increased intracranial pressure Macrocephaly Eosinophilia Flexion contracture Encephalitis Hyperglycemia Shallow orbits Accumulation of melanosomes in melanocytes Abnormal CNS myelination Skin rash Hypoplasia of the corpus callosum Talipes equinovarus Confusion Coma Increased urinary sedoheptulose Abnormality of globe location Neonatal asphyxia Postprandial hyperglycemia Severe postnatal growth retardation Hypochromic anemia Subcortical cerebral atrophy Abnormality of the renal tubule Hypochromic microcytic anemia Cholestatic liver disease Recurrent hypoglycemia Breech presentation Diastasis recti Hemiplegia Melanin pigment aggregation in hair shafts Hyperhidrosis CSF pleocytosis Hydrocephalus Spasticity Acute leukemia Hypoproteinemia Abnormal natural killer cell physiology Lipogranulomatosis Plasmacytosis Polyneuritis Prolonged partial thromboplastin time Increased CSF protein Increased VLDL cholesterol concentration T-cell lymphoma Granulocytopenia Increased total bilirubin Increased LDL cholesterol concentration Histiocytosis Cellular immunodeficiency Prolonged prothrombin time Increased serum ferritin Severe combined immunodeficiency Silver-gray hair Pyloric stenosis Cutaneous anergy Reduced delayed hypersensitivity Abnormality of neutrophils Hyponatremia Edema of the lower limbs Abnormal eyebrow morphology Abnormal eyelash morphology Abnormality of lipid metabolism Hypopigmented skin patches Lethargy Reduced tendon reflexes Abnormality of the coagulation cascade Bone marrow hypocellularity Encephalocele Progressive neurologic deterioration Abnormal cerebellum morphology Ascites Increased antibody level in blood Episodic fever Cerebral atrophy Cerebral cortical atrophy Reduced visual acuity Iron deficiency anemia Peripheral pulmonary artery stenosis Abnormal thrombocyte morphology Abnormality of the pancreas Villous atrophy Large forehead Woolly hair Thrombocytosis Underdeveloped supraorbital ridges Curly hair Increased mean platelet volume Abnormality of the immune system Recurrent upper respiratory tract infections Aortic regurgitation Abnormality of the hair Hepatic fibrosis Depressed nasal ridge Fine hair Tetralogy of Fallot Decreased liver function Intermittent diarrhea Premature birth Visual impairment Recurrent respiratory infections Hyporeflexia Areflexia Hypermetropia Gait disturbance Tremor Decreased HDL cholesterol concentration Peripheral neuropathy Abnormalities of placenta or umbilical cord Intractable diarrhea Large placenta Abnormality of iron homeostasis Galactosuria Humoral immunodeficiency Hypermethioninemia Renal cortical microcysts Increased serum iron Hypergalactosemia Secretory diarrhea Aciduria Bifid uvula Polydactyly Decreased fetal movement Proximal tubulopathy Abnormal cortical gyration Neurodevelopmental delay Loss of consciousness Inflammation of the large intestine Abnormal intestine morphology Lymphopenia Hypohidrosis Focal-onset seizure Macrovesicular hepatic steatosis Postaxial polydactyly Encephalopathy Muscular hypotonia of the trunk Aggressive behavior Neonatal hypotonia Retrognathia Irritability Hyperkeratosis Impaired T cell function Gastrointestinal inflammation Prolonged neonatal jaundice Proptosis Dry skin Delayed puberty Pulmonic stenosis Small for gestational age Broad forehead Microtia Sparse hair Wide mouth Osteoporosis Abnormal T cell morphology Prominent forehead Long philtrum Anteverted nares Frontal bossing Downslanted palpebral fissures Depressed nasal bridge Cognitive impairment Hypertelorism Type II transferrin isoform profile Chronic hepatitis due to cryptosporidium infection


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